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Jean-Pierre Fryns

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Marjolijn Renard; Constance Schrander-Stumpel; Eva-Lena Stattin; Machteld Baetens; Maryse Bonduelle; Bert Callewaert; Laurence Campens; Diogo Cavaco; Paul Coucke; Anne De Paepe; Harry C Dietz; Jean-Pierre Fryns; Isabel Mendes Gaspar; Bart Loeys; Kay Macdermot; Julie De Backer
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
M Isrie; Joris R Vermeesch; T J L de Ravel; koenraad devriendt; Guy Froyen; Jean-Pierre Fryns; Hilde Van Esch
Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.
Caroline Robberecht; Jan Deprest; Thomas D'Hooghe; Jean-Pierre Fryns; Anne Pexsters; Joris Robert Vermeesch
Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss.

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2013: Marjolijn Renard; Constance Schrander-Stumpel; Eva-Lena Stattin; Machteld Baetens; Maryse Bonduelle; Bert Callewaert; Laurence Campens; Diogo Cavaco; Paul Coucke; Anne De Paepe; Harry C Dietz; Jean-Pierre Fryns; Isabel Mendes Gaspar; Bart Loeys; Kay Macdermot; Julie De Backer
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
International journal of cardiology 2013;165(2):314-21.
2012: M Isrie; Joris R Vermeesch; T J L de Ravel; koenraad devriendt; Guy Froyen; Jean-Pierre Fryns; Hilde Van Esch
Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.
European journal of medical genetics 2012;55(11):577-85.
2012: Caroline Robberecht; Jan Deprest; Thomas D'Hooghe; Jean-Pierre Fryns; Anne Pexsters; Joris Robert Vermeesch
Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss.
Prenatal diagnosis 2012;32(10):933-42.
2012: E Chabchoub; Joris R Vermeesch; Diane Willekens; Jean-Pierre Fryns
Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.
Clinical genetics 2012;81(6):584-9.
2012: Femke Hannes; Oliver Quarrell; koenraad devriendt; Jean-Pierre Fryns; Peter Hammond; Joris R Vermeesch
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part A 2012;158A(5):996-1004.
2012: Ingrid Witters; A Coumans; L Meylaerts; H Peeters; S Wirjosoekarto; Jean-Pierre Fryns
Fetal hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report.
Genetic counseling (Geneva, Switzerland) 2012;23(4):513-7.
2012: Caroline Robberecht; Albert Schinzel; Gülen E Utine; Nicole de Leeuw; Jean-Pierre Fryns; Thierry Voet; Joris R Vermeesch
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.
Molecular cytogenetics 2012;5():19.
2011: Alfredo Orrico; Lucia Galli; Jill Clayton-Smith; Jean-Pierre Fryns
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
European journal of human genetics : EJHG 2011;19(11):.
2011: Joris R Vermeesch; Irina Balikova; Jean-Pierre Fryns; Connie Schrander-Stumpel; koenraad devriendt
The causality of de novo copy number variants is overestimated.
European journal of human genetics : EJHG 2011;19(11):1112-3.
2011: Jacek Majewski; Janet Marcadier; Ivo Marik; Fergus E McKiernan; Jacques L Michaud; Lysanne Patry; Kym M Boycott; Aurore Caqueret; Jean-Pierre Fryns; Jeremy A Schwartzentruber; Louis-Georges Ste-Marie; Hilde Van Esch; Mark E Samuels
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
Human mutation 2011;32(10):1114-7.
2011: Piotr S Iwanowski; Lech Korniszewski; Serena Lattante; Nicole M C Maas; Jean-Pierre Fryns; Marina Murdolo; Marta Myśliwiec; Barbara Panasiuk; Jacek Pilch; Renata Posmyk; Griet Van Buggenhout; Stanislaw Zajączek; Marcella Zollino; Alina Midro
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
American journal of medical genetics. Part A 2011;155A(8):1833-47.
2011: Thierry Voet; Sophie Debrock; Matthias Declercq; Thomas D'Hooghe; Jean-Pierre Fryns; Sigrun Jackmaert; Cindy Melotte; Yves Moreau; Niels Van der Aa; Tamara Vandendael; Evelyne Vanneste; Joris R Vermeesch
Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos.
Human mutation 2011;32(7):783-93.
2011: Nicole Y P Souren; Sascha Tierling; Jörn Walter; Catherine Derom; Jean-Pierre Fryns; Maurice Zeegers
DNA methylation variability at growth-related imprints does not contribute to overweight in monozygotic twins discordant for BMI.
Obesity (Silver Spring, Md.) 2011;19(7):1519-22.
2011: Edith Said; Alfred Cuschieri; Joris Vermeesch; Jean-Pierre Fryns
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH.
American journal of medical genetics. Part A 2011;155A(6):1390-2.
2011: Anne M Slavotinek; Sergio E Baranzini; Denny Schanze; Cassandre Labelle-Dumais; Kieran M Short; Ryan Chao; Mani Yahyavi; Emilia K Bijlsma; Catherine Chu; Stacey Musone; Ashleigh Wheatley; Pui-Yan Kwok; Sandra Marles; Jean-Pierre Fryns; A. Murat Maga; Mohamed G Hassan; Douglas B Gould; Lohith Madireddy; Chumei Li; Timothy C Cox; Ian Smyth; Albert E Chudley; Martin Zenker
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Journal of medical genetics 2011;48(6):375-82.
2011: Irina Balikova; T J L de Ravel; Carmen Ayuso; Bernard Thienpont; Ingele Casteels; Cristina Villaverde; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.
American journal of ophthalmology 2011;151(6):1087-1094.e45.
2011: Ellen Denayer; Mie-Jef Descheemaeker; Douglas R Stewart; Kathelijn Keymolen; Ellen Plasschaert; Sarah L Ruppert; Joseph Snow; Audrey E Thurm; Lisa A Joseph; Jean-Pierre Fryns; Eric Legius
Observations on intelligence and behavior in 15 patients with Legius syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics 2011;157(2):123-8.
2011: An Crepel; Jean Steyaert; Wouter De la Marche; Veerle De Wolf; Jean-Pierre Fryns; Ilse Noens; Koen Devriendt; Hilde Peeters
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156(2):243-5.
2011: Aimée D C Paulussen; Alexander P A Stegmann; Marinus J Blok; Demis Tserpelis; Crool Posma-Velter; Yvonne Detisch; Eric E J Smeets; Annemieke Wagemans; Jaap J P Schrander; Marie-José H van den Boogaard; Jasper van der Smagt; Arie van Haeringen; Irene Stolte-Dijkstra; Wilhelmina S Kerstjens-Frederikse; Grazia M Mancini; Marja W Wessels; Raoul C M Hennekam; Maaike Vreeburg; Joep P M Geraedts; T J L de Ravel; Jean-Pierre Fryns; H J M Smeets; koenraad devriendt; Constance T R M Schrander-Stumpel
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Human mutation 2011;32(2):E2018-25.
2011: Ingrid Witters; Derize Boshoff; Luc De Catte; Tinne Mesens; Wilfried Gyselaers; Claire Theyskens; Els Bruneel; Marc Gewillig; Jean-Pierre Fryns
Pericardial effusion in the first trimester of pregnancy.
Prenatal diagnosis 2011;31(2):215-7.
2011: Boyan Dimitrov; Irina Balikova; T J L de Ravel; Hilde Van Esch; Maryse De Smedt; Emiel Baten; Joris R Vermeesch; Irena Bradinova; Emil Simeonov; Koen Devriendt; Jean-Pierre Fryns; Philippe Debeer
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
Journal of medical genetics 2011;48(2):98-104.
2011: Paul D Brady; Kasemsri Srisupundit; koenraad devriendt; Jean-Pierre Fryns; Jan A Deprest; Joris R Vermeesch
Recent developments in the genetic factors underlying congenital diaphragmatic hernia.
Fetal diagnosis and therapy 2011;29(1):25-39.
2010: Kasemsri Srisupundit; Paul D Brady; koenraad devriendt; Jean-Pierre Fryns; Rogelio Cruz-Martinez; Eduard Gratacos; Jan A Deprest; Joris R Vermeesch
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH).
Prenatal diagnosis 2010;30(12-13):1198-206.
2010: Femke Hannes; Jeroen Van Houdt; Oliver W Quarrell; Martin Poot; Ron Hochstenbach; Jean-Pierre Fryns; Joris R Vermeesch
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.
Human mutation 2010;31(12):1343-51.
2010: Boyan Ivanov Dimitrov; Thierry Voet; Luc De Smet; Joris Robert Vermeesch; Koen Devriendt; Jean-Pierre Fryns; Philippe Debeer
Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.
Journal of medical genetics 2010;47(8):569-74.
2010: Barbara D'haene; Jan Hellemans; Marguerita Craen; Jean De Schepper; Koen Devriendt; Jean-Pierre Fryns; Kathelijn Keymolen; Eveline Debals; Annelies de Klein; Elisabeth M de Jong; Karin Segers; Anne De Paepe; Geert Mortier; Jo Vandesompele; Elfride De Baere
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
The Journal of clinical endocrinology and metabolism 2010;95(6):3010-8.
2010: Ingrid Witters; Jean-Pierre Fryns
Comment on 'genetic considerations in the prenatal diagnosis of overgrowth syndromes', by Vora and Bianchi.
Prenatal diagnosis 2010;30(5):492.
2010: Ginevra Zanni; Hilde Van Esch; Anissa Bensalem; Yoann Saillour; Karine Poirier; Laetitia Castelnau; Hans-Hilger Ropers; Arjan P M de Brouwer; Fréderic Laumonnier; Jean-Pierre Fryns; Jamel Chelly
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
Neurogenetics 2010;11(2):251-5.
2010: A Crepel; J Breckpot; Jean-Pierre Fryns; W De la Marche; Jean Steyaert; koenraad devriendt; H Peeters
DISC1 duplication in two brothers with autism and mild mental retardation.
Clinical genetics 2010;77(4):389-94.
2010: Ellen Denayer; koenraad devriendt; Thomy de Ravel; Griet Van Buggenhout; Eric E J Smeets; I Francois; Yves Sznajer; Marguerita Craen; George Leventopoulos; Léon Mutesa; Willy Vandecasseye; Guy Massa; Hulya Kayserili; Raf Sciot; Jean-Pierre Fryns; Eric Legius
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Genes, chromosomes & cancer 2010;49(3):242-52.
2010: Bernard Thienpont; Frédérique Béna; Jeroen Breckpot; Nicole Philip; Björn Menten; Hilde Van Esch; Emmanuel Scalais; Jessica M Salamone; Chin-To Fong; Jennifer L Kussmann; Dorothy K Grange; Jerome L Gorski; Farah Zahir; Siu Li Yong; Michael Morris; Stefania Gimelli; Jean-Pierre Fryns; Geert Mortier; Jan M Friedman; Laurent Villard; Armand Bottani; Joris R Vermeesch; Sau Wai Cheung; Koen Devriendt
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
Journal of medical genetics 2010;47(3):155-61.
2010: Liesbeth Backx; Jean-Pierre Fryns; Carlo Marcelis; koenraad devriendt; Joris R Vermeesch; Hilde Van Esch
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.
American journal of medical genetics. Part A 2010;152A(2):319-26.
2010: B I Dimitrov; T J L de Ravel; J Van Driessche; C de Die-Smulders; A Toutain; Joris R Vermeesch; Jean-Pierre Fryns; koenraad devriendt; Philippe Debeer
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.
Journal of medical genetics 2010;47(2):103-11.
2010: Ingrid Witters; A Bogaerts; Jean-Pierre Fryns
Preconception care.
Genetic counseling (Geneva, Switzerland) 2010;21(2):169-82.
2010: Caroline Robberecht; Jean-Pierre Fryns; Joris Robert Vermeesch
Piecing together the problems in diagnosing low-level chromosomal mosaicism.
Genome medicine 2010;2(7):47.
2010: T Lukusa; Jean-Pierre Fryns
Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis.
Genetic counseling (Geneva, Switzerland) 2010;21(1):25-34.
2010: Lars R Jensen; Heinz Bartenschlager; Sinitdhorn Rujirabanjerd; Andreas Tzschach; Astrid Nümann; Andreas R Janecke; Ralf Spörle; Sigmar Stricker; Martine Raynaud; John Nelson; Anna Hackett; Jean-Pierre Fryns; Jamel Chelly; Arjan Pm de Brouwer; Ben Hamel; Jozef Gecz; Hans-Hilger Ropers; Andreas W Kuss
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.
PathoGenetics 2010;3(1):2.
2009: Joke Vandewalle; Hilde Van Esch; Karen Govaerts; Jelle Verbeeck; Christiane Zweier; Irene Madrigal; Montserrat Mila; Elly Pijkels; Isabel Fernandez; Jürgen Kohlhase; Christiane Spaich; Anita Rauch; Jean-Pierre Fryns; Peter Marynen; Guy Froyen
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
American journal of human genetics 2009;85(6):809-22.
2009: Guy Froyen; K Govaerts; Hilde Van Esch; J Verbeeck; M-L Tuomi; H Heikkilä; S Torniainen; koenraad devriendt; Jean-Pierre Fryns; Peter Marynen; I Järvelä; S Ala-Mello
Novel PORCN mutations in focal dermal hypoplasia.
Clinical genetics 2009;76(6):535-43.
2009: Ingrid Witters; Jean-Pierre Fryns; Luc De Catte; Philippe Moerman
Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence.
Prenatal diagnosis 2009;29(11):1081-4.
2009: Evelyne Vanneste; Thierry Voet; Cindy Melotte; Sophie Debrock; Karen Sermon; Catherine Staessen; Inge Liebaers; Jean-Pierre Fryns; Thomas M D'Hooghe; Joris R Vermeesch
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate.
Human reproduction (Oxford, England) 2009;24(11):2679-82.
2009: Griet Van Buggenhout; Jean-Pierre Fryns
Angelman syndrome (AS, MIM 105830).
European journal of human genetics : EJHG 2009;17(11):1367-73.
2009: Jeroen Breckpot; Bernard Thienpont; Christine Vanhole; Els Van Rossem; Dominique Van Schoubroeck; Jean-Pierre Fryns; Lieven Lagae; Gunnar Buyse; koenraad devriendt
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
Clinical dysmorphology 2009;18(4):195-200.
2009: Caroline Robberecht; Vicky Schuddinck; Jean-Pierre Fryns; Joris R Vermeesch
Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(9):646-54.
2009: Irina Balikova; A-E Lehesjoki; T J L de Ravel; Bernard Thienpont; K E Chandler; J Clayton-Smith; A-L Träskelin; Jean-Pierre Fryns; Joris R Vermeesch
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
Human mutation 2009;30(9):E845-54.
2009: Martina Zivná; Helena Hůlková; Marie Matignon; Katerina Hodanová; Petr Vylet'al; Marie Kalbácová; Veronika Baresová; Jakub Sikora; Hana Blazková; Jan Zivný; Robert Ivanek; Viktor Stránecký; Jana Sovová; Kathleen Claes; Evelyne Lerut; Jean-Pierre Fryns; P Suzanne Hart; Thomas Hart; Jeremy N Adams; Audrey Pawtowski; Maud Clemessy; Jean-Marie Gasc; Marie-Claire Gübler; Corinne Antignac; Milan Elleder; Katja Kapp; Philippe Grimbert; Anthony J Bleyer; Stanislav Kmoch
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
American journal of human genetics 2009;85(2):204-13.
2009: Ingrid Witters; Elyes Chabchoub; Joris R Vermeesch; Jean-Pierre Fryns
Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis.
American journal of medical genetics. Part A 2009;149A(8):1834-6.
2009: Irina Balikova; Joris R Vermeesch; Jean-Pierre Fryns; Hilde Van Esch
Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).
European journal of medical genetics 2009;52(4):260-1.
2009: Thomy de Ravel; Irina Balikova; Jozef Van Driessche; Joris R Vermeesch; Jean-Pierre Fryns
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion.
American journal of medical genetics. Part A 2009;149A(6):1315-6.
2009: E Vanneste; Cindy Melotte; Sophie Debrock; Thomas M D'Hooghe; Hilde Brems; Jean-Pierre Fryns; Eric Legius; Joris R Vermeesch
Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions.
Human reproduction (Oxford, England) 2009;24(6):1522-8.
2009: Evelyne Vanneste; Thierry Voet; Cédric Le Caignec; Michèle Ampe; Peter Konings; Cindy Melotte; Sophie Debrock; Mustapha Amyere; Miikka Vikkula; Frans Schuit; Jean-Pierre Fryns; Geert Verbeke; Thomas M D'Hooghe; Yves Moreau; Joris R Vermeesch
Chromosome instability is common in human cleavage-stage embryos.
Nature medicine 2009;15(5):577-83.
2009: Maria Kirchhoff; Anne-Marie Bisgaard; Radka Stoeva; Boyan Dimitrov; Gabriele Gillessen-Kaesbach; Jean-Pierre Fryns; Hanne Rose; Liliana Grozdanova; Ivan Ivanov; Kathelijn Keymolen; Christina Fagerberg; Lisbeth Tranebjaerg; Flemming Skovby; Margarita Stefanova
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
American journal of medical genetics. Part A 2009;149A(5):894-905.
2009: F D Hannes; A J Sharp; H C Mefford; T de Ravel; C A Ruivenkamp; M H Breuning; Jean-Pierre Fryns; koenraad devriendt; G Van Buggenhout; A Vogels; H Stewart; Raoul Hennekam; Gregory Cooper; R Regan; S J L Knight; Evan E Eichler; Joris R Vermeesch
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Journal of medical genetics 2009;46(4):223-32.
2009: Hilde Van Esch; Liesbeth Backx; Elly Pijkels; Jean-Pierre Fryns
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.
European journal of medical genetics 2009;52(2-3):153-6.
2009: Nicole M C Maas; Cindy Melotte; Damien Sanlaville; C T R M Schrander-Stumpel; Tom Van de Putte; koenraad devriendt; Boyan Dimitrov; Annick Francis; Jean-Pierre Fryns; David Genevieve; Stanislas LYONNET; Joris R Vermeesch
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
BMJ case reports 2009;2009():.
2009: Ellen Denayer; Hilde Brems; Paul de Cock; Gareth D Evans; Frank Van Calenbergh; Naomi Bowers; Raf Sciot; Maria Debiec-Rychter; Joris V Vermeesch; Jean-Pierre Fryns; Eric Legius
Pathogenesis of vestibular schwannoma in ring chromosome 22.
BMC medical genetics 2009;10():97.
2008: Ingrid Witters; Jean-Pierre Fryns
Follow-up of a child with trisomy 17 mosaicism.
Prenatal diagnosis 2008;28(11):1080.
2008: Radka E Stoeva; Liliana I Grozdanova; Joris R Vermeesch; Maria Kirchhoff; Jean-Pierre Fryns; Ivan S Ivanov; Iliana H Patcheva; Boyan I Dimitrov; Tsanyu B Krastev; Alexander Jordanov Linev; Margarita T Stefanova
Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.
Folia medica 2008;50(4):55-62.
2008: Isabelle Bailleul-Forestier; Ariane Berdal; Frans Vinckier; Thomy de Ravel; Jean-Pierre Fryns; Alain Verloes
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
European journal of medical genetics 2008;51(5):383-408.
2008: Suzanna Gerarda Maria Frints; Steffen Lenzner; Marijke Bauters; Lars Riff Jensen; Hilde Van Esch; Vincent des Portes; Ute Moog; Merryn Victor Erik Macville; Kees van Roozendaal; Constance Theresia Rimbertha Maria Schrander-Stumpel; Andreas Tzschach; Peter Marynen; Jean-Pierre Fryns; Ben Hamel; Hans van Bokhoven; Jamel Chelly; Chérif Beldjord; Gillian Turner; Jozef Gecz; Claude Moraine; Martine Raynaud; Hans-Hilger Ropers; Guy Froyen; Andreas Walter Kuss
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
European journal of human genetics : EJHG 2008;16(9):1029-37.
2008: Annelies Vermeiren; Andrzej Zarowski; Jean-Pierre Fryns; Filiep Vanpoucke; Thomas Somers; Erwin Offeciers
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome.
Acta oto-laryngologica 2008;128(7):814-20.
2008: Eda G Utine; Yasemin Alanay; Dilek Aktas; Mehmet Alikasifoglu; Koray Boduroglu; Joris R Vermeesch; Ergul Tuncbilek; Jean-Pierre Fryns
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.
European journal of medical genetics 2008;51(4):343-50.
2008: Ingrid Witters; Jean-Pierre Fryns
Trisomy 18 presenting with severe limb deformations.
Prenatal diagnosis 2008;28(6):549-50.
2008: Marijke Bauters; Hilde Van Esch; Michael J Friez; Odile Boespflug-Tanguy; Martin Zenker; Angela M Vianna-Morgante; Carla Rosenberg; Jaakko Ignatius; Martine Raynaud; Karen Hollanders; Karen Govaerts; Kris Vandenreijt; Florence Niel; Pierre Blanc; Roger E Stevenson; Jean-Pierre Fryns; Peter Marynen; Charles E Schwartz; Guy Froyen
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
Genome research 2008;18(6):847-58.
2008: An Hindryckx; Luc De Catte; Hilde Van Esch; Jean-Pierre Fryns; Philippe Moerman; Roland Devlieger
First trimester prenatal diagnosis of 13q-syndrome presenting with increased nuchal translucency, Dandy-Walker malformation and small parietal encephalocoele.
Prenatal diagnosis 2008;28(5):445-6.
2008: M M Hagleitner; A Lankester; Paola Maraschio; M Hultén; Jean-Pierre Fryns; C Schuetz; Giorgio Gimelli; E Graham Davies; A Gennery; B H Belohradsky; R de Groot; E J A Gerritsen; Teresa Mattina; P J Howard; A Fasth; I Reisli; D Furthner; Mary A Slatter; A J Cant; G Cazzola; P J van Dijken; Marcel van Deuren; JC de Greef; Silvère M van der Maarel; Corry M R Weemaes
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Journal of medical genetics 2008;45(2):93-9.
2008: Nicole M C Maas; Griet Van Buggenhout; F Hannes; Bernard Thienpont; Damien Sanlaville; K Kok; A Midro; J Andrieux; Britt-Marie Anderlid; Jacqueline Schoumans; R Hordijk; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
Journal of medical genetics 2008;45(2):71-80.
2008: Luc De Smet; Jean-Pierre Fryns
Unilateral radio-ulnar synostosis and idic-Y chromosome.
Genetic counseling (Geneva, Switzerland) 2008;19(4):425-7.
2008: H Peeters; Joris R Vermeesch; Jean-Pierre Fryns
A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
Genetic counseling (Geneva, Switzerland) 2008;19(4):365-71.
2008: Ingrid Witters; Philippe Moerman; Jean-Pierre Fryns
Skeletal dysplasias: 38 prenatal cases.
Genetic counseling (Geneva, Switzerland) 2008;19(3):267-75.
2008: Ingrid Witters; Jean-Pierre Fryns
Prenatal diagnosis of trisomy 21: registration results from a single genetic center.
Genetic counseling (Geneva, Switzerland) 2008;19(2):157-63.
2008: Bert De Smedt; Ann Swillen; koenraad devriendt; Jean-Pierre Fryns; Lieven Verschaffel; Bart Boets; Pol Ghesquière
Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2008;19(1):71-94.
2008: Karin Peeters; Diane Willekens; Jean Steyaert; Jean-Pierre Fryns
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics.
Genetic counseling (Geneva, Switzerland) 2008;19(1):1-14.
2008: Irina Balikova; Kevin Martens; Cindy Melotte; Mustapha Amyere; Steven Van Vooren; Yves Moreau; David Vetrie; Heike Fiegler; Nigel P Carter; Thomas Liehr; Miikka Vikkula; Gert Matthijs; Jean-Pierre Fryns; Ingele Casteels; koenraad devriendt; Joris R Vermeesch
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
American journal of human genetics 2008;82(1):181-7.
2008: Isabelle Bailleul-Forestier; Veroniek Verhaeghe; Jean-Pierre Fryns; Frans Vinckier; Dominique Declerck; Annick Vogels
The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients.
International journal of paediatric dentistry / the British Paedodontic Society [and] the International Association of Dentistry for Children 2008;18(1):40-7.
2008: I Witters; E Denayer; Hilde Brems; Jean-Pierre Fryns; Eric Legius
The cardiofaciocutaneous syndrome: prenatal findings in two patients.
Prenatal diagnosis 2008;28(1):53-5.
2007: Karine Poirier; David A Keays; Fiona Francis; Yoann Saillour; Nadia Bahi; Sylvie Manouvrier; Catherine Fallet-Bianco; Laurent Pasquier; Annick Toutain; Françoise Phan Dinh Tuy; Thierry Bienvenu; Sylvie Joriot; Sylvie Odent; Dorothée Ville; Isabelle Desguerre; Alice Goldenberg; Marie-Laure Moutard; Jean-Pierre Fryns; Hilde Van Esch; Robert Justin Harvey; Christian Siebold; Jonathan Flint; Cherif Beldjord; Jamel Chelly
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Human mutation 2007;28(11):1055-64.
2007: Bernard Thienpont; Luc Mertens; T J L de Ravel; Benedicte Eyskens; Derize Boshoff; Nicole M C Maas; Jean-Pierre Fryns; Marc Gewillig; Joris R Vermeesch; koenraad devriendt
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.
European heart journal 2007;28(22):2778-84.
2007: Sophie Vanhaesebrouck; David Van Laere; Jean-Pierre Fryns; Claire Theyskens
Pseudo-Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome 8.
American journal of medical genetics. Part A 2007;143A(20):2469-72.
2007: Bernard Thienpont; T J L de Ravel; Hilde Van Esch; Dominique Van Schoubroeck; Philippe Moerman; Joris R Vermeesch; Jean-Pierre Fryns; Guy Froyen; Caroline Lacoste; Catherine Badens; koenraad devriendt
Partial duplications of the ATRX gene cause the ATR-X syndrome.
European journal of human genetics : EJHG 2007;15(10):1094-7.
2007: Guy Froyen; Hilde Van Esch; Marijke Bauters; Karen Hollanders; Suzanna G M Frints; Joris R Vermeesch; koenraad devriendt; Jean-Pierre Fryns; Peter Marynen
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.
Human mutation 2007;28(10):1034-42.
2007: Irina Balikova; Björn Menten; T J L de Ravel; Cédric Le Caignec; Bernard Thienpont; Montse Urbina; Martine Doco-Fenzy; Marjan de Rademaeker; Geert R Mortier; Frank Kooy; Janneke van den Ende; koenraad devriendt; Jean-Pierre Fryns; Frank Speleman; Joris R Vermeesch
Subtelomeric imbalances in phenotypically normal individuals.
Human mutation 2007;28(10):958-67.
2007: Bert De Smedt; koenraad devriendt; Jean-Pierre Fryns; Annick Vogels; Marc Gewillig; Ann Swillen
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update.
Journal of intellectual disability research : JIDR 2007;51(Pt 9):666-70.
2007: Hilde Brems; Magdalena Chmara; Mourad Sahbatou; Ellen Denayer; Koji Taniguchi; Reiko Kato; Riet Somers; Ludwine MESSIAEN; Sofie de Schepper; Jean-Pierre Fryns; Jan Cools; Peter Marynen; Gilles Thomas; Akihiko Yoshimura; Eric Legius
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Nature genetics 2007;39(9):1120-6.
2007: I Witters; P Debois; Jean-Pierre Fryns; koenraad devriendt; M Gewillig
A case of left isomerism with early fetal decompensation.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2007;30(3):363-4.
2007: Nicole M C Maas; Tom Van de Putte; Cindy Melotte; Annick Francis; C T R M Schrander-Stumpel; Damien Sanlaville; David Genevieve; Stanislas LYONNET; Boyan Dimitrov; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Journal of medical genetics 2007;44(9):562-9.
2007: Philippe Debeer; koenraad devriendt; Luc De Smet; Thomy Deravel; Antonio Gonzalez-Meneses; Karl-Heinz Grzeschik; Jean-Pierre Fryns
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.
Journal of children's orthopaedics 2007;1(2):143-50.
2007: Ingrid Witters; Mieke Cannie; Jean-Pierre Fryns
Prenatal diagnosis of trisomy 17 mosaicism.
Prenatal diagnosis 2007;27(7):677-8.
2007: T J L de Ravel; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).
European journal of pediatrics 2007;166(7):637-43.
2007: Guy Froyen; Marijke Bauters; Jackie Boyle; Hilde Van Esch; Karen Govaerts; Hans van Bokhoven; Hans-Hilger Ropers; Claude Moraine; Jamel Chelly; Jean-Pierre Fryns; Peter Marynen; Jozef Gecz; Gillian Turner
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
Human genetics 2007;121(5):539-47.
2007: Dries Castermans; Joris R Vermeesch; Jean-Pierre Fryns; Jean Steyaert; Wim J M Van De Ven; John W M Creemers; koenraad devriendt
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.
European journal of human genetics : EJHG 2007;15(4):422-31.
2007: Marleen Decruyenaere; Gerry Evers-Kiebooms; Andrea Boogaerts; Kristien Philippe; Koen Demyttenaere; René Dom; Wim Vandenberghe; Jean-Pierre Fryns
The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation.
European journal of human genetics : EJHG 2007;15(4):453-62.
2007: Elyes Chabchoub; Laura Rodríguez; Enrique Galán; Elena Mansilla; Maria Luisa Martínez-Fernandez; María Luisa Martínez-Frías; Jean-Pierre Fryns; Joris R Vermeesch
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Journal of medical genetics 2007;44(4):250-6.
2007: Bert De Smedt; Ann Swillen; koenraad devriendt; Jean-Pierre Fryns; Lieven Verschaffel; Pol Ghesquière
Mathematical disabilities in children with velo-cardio-facial syndrome.
Neuropsychologia 2007;45(5):885-95.
2007: Katrijn Van Aken; Bert De Smedt; Annelies Van Roie; Marc Gewillig; koenraad devriendt; Jean-Pierre Fryns; Johan Simons; Ann Swillen
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).
Developmental medicine and child neurology 2007;49(3):210-3.
2007: Wei Chen; Lars Riff Jensen; Jozef Gecz; Jean-Pierre Fryns; Claude Moraine; Arjan de Brouwer; Jamel Chelly; Bettina Moser; Hans-Hilger Ropers; Andreas W Kuss
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
European journal of human genetics : EJHG 2007;15(3):375-8.
2007: Hilde Van Esch; Anna Jansen; Marijke Bauters; Guy Froyen; Jean-Pierre Fryns
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.
American journal of medical genetics. Part A 2007;143(4):364-9.
2007: Elke M Botzenhart; Gabriella Bartalini; Edward Blair; Angela F Brady; Frances Elmslie; Karen L Chong; Katie Christy; Wilfredo Torres-Martinez; Cesare Danesino; Matthew A Deardorff; Jean-Pierre Fryns; Sandrine Marlin; Sixto Garcia-Minaur; Yorck Hellenbroich; Beverly N Hay; Maila Penttinen; Vandana Shashi; Paulien Terhal; Lionel Van Maldergem; Margo L Whiteford; Elaine Zackai; Juergen Kohlhase
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Human mutation 2007;28(2):204-5.
2007: Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen V Firth; Mohammad Hassan Karimi-Nejad; Chong A Kim; Kathryn Leask; Melissa K Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; T J L de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; Louise C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Journal of medical genetics 2007;44(2):89-98.
2007: Nicole M C Maas; Steven Van Vooren; F Hannes; Griet Van Buggenhout; M Mysliwiec; Yves Moreau; K Fagan; A Midro; Ozlem Engiz; Sevim Balci; M J Parker; Y Sznajer; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.
Genetic counseling (Geneva, Switzerland) 2007;18(4):357-65.
2007: Lars Riff Jensen; Steffen Lenzner; Bettina Moser; Kristine Freude; Andreas Tzschach; Chen Wei; Jean-Pierre Fryns; Jamel Chelly; Gillian Turner; Claude Moraine; Ben Hamel; Hans-Hilger Ropers; Andreas W Kuss
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
European journal of human genetics : EJHG 2007;15(1):68-75.
2006: Catherine Derom; Robert Francois Vlietinck; evert thiery; Fernand Leroy; Jean-Pierre Fryns; Robert Derom
The East Flanders Prospective Twin Survey (EFPTS).
Twin research and human genetics : the official journal of the International Society for Twin Studies 2006;9(6):733-8.
2006: E Chabchoub; T J L de Ravel; Reinhilde Thoelen; Joris R Vermeesch; Jean-Pierre Fryns; Hilde Van Esch
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly.
Clinical genetics 2006;70(6):535-7.
2006: Hilde Peeters; Marianne L Voz; Kristin Verschueren; Bart De Cat; Hélène Pendeville; Bernard Thienpont; Ann Schellens; John W Belmont; Guido David; Wim J M Van De Ven; Jean-Pierre Fryns; Marc Gewillig; Danny Huylebroeck; Bernard Peers; koenraad devriendt
Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling.
Human molecular genetics 2006;15(22):3369-77.
2006: P Vylet'al; M Kublová; Marie Kalbácová; Katerina Hodanová; V Baresová; B Stibůrková; Jakub Sikora; H Hůlková; J Zivný; Jacek Majewski; A Simmonds; Jean-Pierre Fryns; Gopalakrishnan Venkat-Raman; Milan Elleder; Stanislav Kmoch
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
Kidney international 2006;70(6):1155-69.
2006: Tjitske Kleefstra; Han G Brunner; Jeanne Amiel; Astrid R Oudakker; Willy M Nillesen; Alex Magee; David Geneviève; Valérie Cormier-Daire; Hilde Van Esch; Jean-Pierre Fryns; Ben C J Hamel; Erik A Sistermans; Bert B A de Vries; Hans van Bokhoven
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
American journal of human genetics 2006;79(2):370-7.
2006: Björn Menten; Nicole M C Maas; Bernard Thienpont; Karen Buysse; Jo Vandesompele; Cindy Melotte; T J L de Ravel; Steven Van Vooren; Irina Balikova; liesbeth backx; S Janssens; Anne De Paepe; Bart De Moor; Yves Moreau; Peter Marynen; Jean-Pierre Fryns; Geert R Mortier; koenraad devriendt; Frank Speleman; Joris R Vermeesch
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
Journal of medical genetics 2006;43(8):625-33.
2006: Capucine Delnatte; Damien Sanlaville; Jean-Francois Mougenot; Joris R Vermeesch; Claude Houdayer; Marie-Christine de Blois; David Genevieve; Olivier Goulet; Jean-Pierre Fryns; Francis Jaubert; Michel Vekemans; Stanislas LYONNET; Serge Romana; Charis Eng; Dominique Stoppa-Lyonnet
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
American journal of human genetics 2006;78(6):1066-74.
2006: Mie-Jef Descheemaeker; Veerle Govers; Peter B Vermeulen; Jean-Pierre Fryns
Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls.
American journal of medical genetics. Part A 2006;140(11):1136-42.
2006: Anil Agarwal; Xin J Zhou; Roger K Hall; Kathy Nicholls; Agnes Bankier; Hilde Van Esch; Jean-Pierre Fryns; Abhimanyu Garg
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2006;54(4):208-13.
2006: Andreas Tzschach; Steffen Lenzner; Bettina Moser; Richard Reinhardt; Jamel Chelly; Jean-Pierre Fryns; Tjitske Kleefstra; Martine Raynaud; Gillian Turner; Hans-Hilger Ropers; Andreas W Kuss; Lars Riff Jensen
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
Human mutation 2006;27(4):389.
2006: Dorien Lugtenberg; Arjan de Brouwer; Tjitske Kleefstra; Astrid R Oudakker; Suzanna G M Frints; C T R M Schrander-Stumpel; Jean-Pierre Fryns; Lars Riff Jensen; Jamel Chelly; Claude Moraine; Gillian Turner; Joris Veltman; Ben C J Hamel; Bert B A de Vries; Hans van Bokhoven; Helger G Yntema
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
Journal of medical genetics 2006;43(4):362-70.
2006: Linda P Jakobsen; Mary A Knudsen; James Lespinasse; Carmen García Ayuso; Carmen Ramos; Jean-Pierre Fryns; Merete Bugge; Niels Tommerup
The genetic basis of the Pierre Robin Sequence.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(2):155-9.
2006: Catherine Derom; Fernand Leroy; Robert Francois Vlietinck; Jean-Pierre Fryns; Robert Derom
High frequency of iatrogenic monozygotic twins with administration of clomiphene citrate and a change in chorionicity.
Fertility and sterility 2006;85(3):755-7.
2006: Karine Poirier; D Lacombe; B Gilbert-Dussardier; Martine Raynaud; Vincent Desportes; Arjan de Brouwer; Claude Moraine; Jean-Pierre Fryns; Hans-Hilger Ropers; Cherif Beldjord; Jamel Chelly; Thierry Bienvenu
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Neurogenetics 2006;7(1):39-46.
2006: Jan Deprest; Jacques Jani; Dominique Van Schoubroeck; Mieke Cannie; Denis Gallot; Steven Dymarkowski; Jean-Pierre Fryns; Gunnar Naulaers; Eduard Gratacos; Kypros Nicolaides
Current consequences of prenatal diagnosis of congenital diaphragmatic hernia.
Journal of pediatric surgery 2006;41(2):423-30.
2006: Liesbeth Lewi; Isaac Blickstein; Dominique Van Schoubroeck; Karl-Philipp Gloning; Martine Casteels; Helen Brandenburg; Jean-Pierre Fryns; Jan Deprest
Diagnosis and management of heterokaryotypic monochorionic twins.
American journal of medical genetics. Part A 2006;140(3):272-5.
2006: Dorien Lugtenberg; Helger G Yntema; Martijn J G Banning; Astrid R Oudakker; Helen V Firth; Lionel Willatt; Martine Raynaud; Tjitske Kleefstra; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Jozef Gecz; Jeroen van Reeuwijk; Sander B Nabuurs; Bert B A de Vries; Ben C J Hamel; Arjan de Brouwer; Hans van Bokhoven
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
American journal of human genetics 2006;78(2):265-78.
2006: Hilde Van Esch; Anil Agarwal; Philippe Debeer; Jean-Pierre Fryns; Abhimanyu Garg
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
The Journal of clinical endocrinology and metabolism 2006;91(2):517-21.
2006: Pascal Borry; Jean-Pierre Fryns; Paul Schotsmans; Kris Dierickx
Carrier testing in minors: a systematic review of guidelines and position papers.
European journal of human genetics : EJHG 2006;14(2):133-8.
2006: Nicole M C Maas; Bernard Thienpont; Joris R Vermeesch; Jean-Pierre Fryns
Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q.
Genetic counseling (Geneva, Switzerland) 2006;17(4):477-9.
2006: T J L de Ravel; Irina Balikova; Bernard Thienpont; F Hannes; Nicole M C Maas; Jean-Pierre Fryns; koenraad devriendt; Joris R Vermeesch
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.
Cytogenetic and genome research 2006;115(3-4):225-30.
2006: Bert De Smedt; Ann Swillen; koenraad devriendt; Jean-Pierre Fryns; Lieven Verschaffel; P Ghesquiere
Mathematical disabilities in young primary school children with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2006;17(3):259-80.
2006: Bernard Thienpont; Marc Gewillig; Jean-Pierre Fryns; koenraad devriendt; Joris R Vermeesch
Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies.
Cytogenetic and genome research 2006;114(3-4):338-41.
2006: Griet Van Buggenhout; Jean-Pierre Fryns
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
Orphanet journal of rare diseases 2006;1():26.
2006: Annick Vogels; Jean-Pierre Fryns
Pfeiffer syndrome.
Orphanet journal of rare diseases 2006;1():19.
2006: Cédric Le Caignec; Claudia Spits; Karen Sermon; Martine De Rycke; Bernard Thienpont; Sophie Debrock; Catherine Staessen; Yves Moreau; Jean-Pierre Fryns; André Van Steirteghem; Inge Liebaers; Joris R Vermeesch
Single-cell chromosomal imbalances detection by array CGH.
Nucleic acids research 2006;34(9):e68.
2006: Olivier Hagens; Aline Dubos; fatima abidi; Gotthold Barbi; Laura Van Zutven; Maria Hoeltzenbein; Niels Tommerup; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans van Bokhoven; Jozef Gécz; Hélène Dollfus; Hans-Hilger Ropers; Charles E Schwartz; Rita de Cassia Stocco Dos Santos; Vera Kalscheuer; André Hanauer
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Human genetics 2006;118(5):578-90.
2005: Ann Swillen; Hilde Feys; Tamara Adriaens; Loes Nelissen; Luc Mertens; Marc Gewillig; koenraad devriendt; Jean-Pierre Fryns
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.
Developmental medicine and child neurology 2005;47(12):797-802.
2005: Nicole M C Maas; Joris R Vermeesch; Jean-Pierre Fryns
A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome.
American journal of medical genetics. Part A 2005;138A(3):294-6.
2005: Philippe Debeer; Hilde Van Esch; Christel Huysmans; E Pijkels; Luc De Smet; Wim Van de Ven; koenraad devriendt; Jean-Pierre Fryns
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
European journal of medical genetics 2005;48(4):377-87.
2005: Frédéric Laumonnier; S Holbert; Nathalie Ronce; F Faravelli; Steffen Lenzner; C E Schwartz; James Lespinasse; Hilde Van Esch; D Lacombe; C Goizet; F Phan-Dinh Tuy; Hans van Bokhoven; Jean-Pierre Fryns; Jamel Chelly; Hans-Hilger Ropers; Claude Moraine; Ben C J Hamel; Sylvain Briault
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Journal of medical genetics 2005;42(10):780-6.
2005: Katerina Hodanová; Jacek Majewski; Martina Kublová; Petr Vyletal; Marie Kalbácová; Blanka Stibůrková; Helena Hůlková; Yvon C Chagnon; Christian-Marc Lanouette; Anthony M Marinaki; Jean-Pierre Fryns; Gopalakrishnan Venkat-Raman; Stanislav Kmoch
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
Kidney international 2005;68(4):1472-82.
2005: Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gecz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
American journal of human genetics 2005;77(3):442-53.
2005: Marleen Decruyenaere; Gerry Evers-Kiebooms; Andrea Boogaerts; Koen Demyttenaere; René Dom; Jean-Pierre Fryns
Partners of mutation-carriers for Huntington's disease: forgotten persons?
European journal of human genetics : EJHG 2005;13(9):1077-85.
2005: Diane Beysen; J Raes; Bart P Leroy; A Lucassen; J R W Yates; J Clayton-Smith; H Ilyina; Susan Sklower Brooks; Sophie Christin-Maitre; Marc Fellous; Jean-Pierre Fryns; J R Kim; P Lapunzina; E Lemyre; Françoise Meire; Ludwine MESSIAEN; Christine Oley; M Splitt; J Thomson; Y Van de Peer; Reiner A Veitia; Anne De Paepe; Elfride De Baere
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.
American journal of human genetics 2005;77(2):205-18.
2005: Bernard Thienpont; Joris R Vermeesch; Jean-Pierre Fryns
25 Mb deletion of 13q13.3-->q21.31 in a patient without retinoblastoma.
European journal of medical genetics 2005;48(3):363-6.
2005: T J L de Ravel; Peter Aerssens; Joris R Vermeesch; Jean-Pierre Fryns
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
European journal of medical genetics 2005;48(3):355-9.
2005: Cédric Le Caignec; Ann Swillen; Elvire Van Asche; Jean-Pierre Fryns; Joris R Vermeesch
Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
European journal of medical genetics 2005;48(3):339-45.
2005: Joris R Vermeesch; Cindy Melotte; Ivo Salden; Mariluce Riegel; Vladimir Trifnov; Anna Polityko; Natalia Rumyantseva; Irina Naumchik; Heike Starke; Gert Matthijs; Albert Schinzel; Jean-Pierre Fryns; Thomas Liehr
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
European journal of medical genetics 2005;48(3):319-27.
2005: Griet Van Buggenhout; Conny van Ravenswaaij-Arts; N Mc Maas; Reinhilde Thoelen; Annick Vogels; Dominique Smeets; Ivo Salden; Gert Matthijs; Jean-Pierre Fryns; Joris R Vermeesch
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
European journal of medical genetics 2005;48(3):276-89.
2005: Hilde Van Esch; Karen Hollanders; Liesbeth Badisco; Cindy Melotte; Paul van Hummelen; Joris R Vermeesch; koenraad devriendt; Jean-Pierre Fryns; Peter Marynen; Guy Froyen
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.
Human molecular genetics 2005;14(13):1795-803.
2005: Hilde Van Esch; Gert Matthijs; Jean-Pierre Fryns
Should we screen for FMR1 premutations in female subjects presenting with ataxia?
Annals of neurology 2005;57(6):932-3.
2005: Boyan Dimitrov; Irina Balikova; Nely Jekova; Lilija Vakrilova; Jean-Pierre Fryns; Emil Simeonov
Acrofacial dysostosis type Rodríguez.
American journal of medical genetics. Part A 2005;135(1):81-5.
2005: Karine Poirier; Fiona Francis; Ben Hamel; Claude Moraine; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Thierry Bienvenu
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
European journal of human genetics : EJHG 2005;13(5):523-4.
2005: Philippe Debeer; Christel Huysmans; Wim J M Van De Ven; Jean-Pierre Fryns; koenraad devriendt
Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.
American journal of medical genetics. Part A 2005;134(3):318-20.
2005: T J L de Ravel; Paul Thiry; Jean-Pierre Fryns
Follow-up of adult males with chromosome 18p deletion.
European journal of medical genetics 2005;48(2):189-93.
2005: Hilde Van Esch; Ginevra Zanni; Maureen Holvoet; Martine Borghgraef; Jamel Chelly; Jean-Pierre Fryns; koenraad devriendt
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
European journal of medical genetics 2005;48(2):145-52.
2005: Tjitske Kleefstra; M Smidt; Martijn J G Banning; Astrid R Oudakker; Hilde Van Esch; Arjan de Brouwer; Willy M Nillesen; Erik A Sistermans; Ben C J Hamel; Diederik R H de Bruijn; Jean-Pierre Fryns; Helger G Yntema; Han G Brunner; Bert B A de Vries; Hans van Bokhoven
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
Journal of medical genetics 2005;42(4):299-306.
2005: T J L de Ravel; Indira B Taylor; Alex J T Van Oostveldt; Jean-Pierre Fryns; Andrew O M Wilkie
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
European journal of human genetics : EJHG 2005;13(4):503-5.
2005: Joris R Vermeesch; Cindy Melotte; Guy Froyen; Steven Van Vooren; Binita Dutta; Nicole M C Maas; Stefan Vermeulen; Björn Menten; Frank Speleman; Bart De Moor; Paul van Hummelen; Peter Marynen; Jean-Pierre Fryns; koenraad devriendt
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2005;53(3):413-22.
2005: Geneviève Michils; Sabine Tejpar; Reinhilde Thoelen; Eric Van Cutsem; Joris R Vermeesch; Jean-Pierre Fryns; Eric Legius; Gert Matthijs
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.
Human mutation 2005;25(2):125-34.
2005: Lars Riff Jensen; Marion Amende; Ulf Gurok; Bettina Moser; Verena Gimmel; Andreas Tzschach; Andreas R Janecke; Gholamali Tariverdian; Jamel Chelly; Jean-Pierre Fryns; Hilde Van Esch; Tjitske Kleefstra; Ben Hamel; Claude Moraine; Jozef Gecz; Gillian Turner; Richard Reinhardt; Vera Kalscheuer; Hans-Hilger Ropers; Steffen Lenzner
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
American journal of human genetics 2005;76(2):227-36.
2005: Inge B Mathijssen; Jean-Pierre Fryns; koenraad devriendt; Yves Sznajer; Maurice Van Eygen
Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome.
American journal of medical genetics. Part A 2005;132A(3):338-9.
2005: Eric E J Smeets; P Terhal; P Casaer; A Peters; A Midro; Els Schollen; Kees E P van Roozendaal; Ute Moog; Gert Matthijs; Jos Herbergs; H J M Smeets; Leopold M G Curfs; C T R M Schrander-Stumpel; Jean-Pierre Fryns
Rett syndrome in females with CTS hot spot deletions: a disorder profile.
American journal of medical genetics. Part A 2005;132A(2):117-20.
2005: G Eda Utine; Cindy Melotte; Joris R Vermeesch; Jean-Pierre Fryns
Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1.
Genetic counseling (Geneva, Switzerland) 2005;16(4):407-12.
2005: Pascal Borry; Jean-Pierre Fryns; Paul Schotsmans; Kris Dierickx
Attitudes towards carrier testing in minors: a systematic review.
Genetic counseling (Geneva, Switzerland) 2005;16(4):341-52.
2005: G Eda Utine; Reinhilde Thoelen; H Peeters; Joris R Vermeesch; Jean-Pierre Fryns
Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation.
Genetic counseling (Geneva, Switzerland) 2005;16(3):291-5.
2005: G Meeus; Jean Steyaert; Jean-Pierre Fryns
A follow-up study on 12 prenatally diagnosed boys with Klinefelter syndrome.
Genetic counseling (Geneva, Switzerland) 2005;16(3):249-56.
2005: Boyan Dimitrov; Irina Balikova; Irena Bradinova; D Zahariev; A Popova; Emil Simeonov; L De Smet; koenraad devriendt; Jean-Pierre Fryns
The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
Genetic counseling (Geneva, Switzerland) 2005;16(2):181-6.
2005: T Lukusa; Eric E J Smeets; Annick Vogels; Joris R Vermeesch; Jean-Pierre Fryns
Terminal 2q37 deletion and autistic behaviour.
Genetic counseling (Geneva, Switzerland) 2005;16(2):179-80.
2005: Hilde Van Esch; Peter Aerssens; Jean-Pierre Fryns
The importance of excluding 13q deletion mosaicism in the diagnosis of retinoblastoma associated with dysmorphic features.
Genetic counseling (Geneva, Switzerland) 2005;16(1):91-3.
2005: T Lukusa; Joris R Vermeesch; Jean-Pierre Fryns
De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature.
Genetic counseling (Geneva, Switzerland) 2005;16(1):1-15.
2005: Robert Derom; Catherine Derom; Ruth J F Loos; evert thiery; Robert Francois Vlietinck; Jean-Pierre Fryns
Gender mix: does it modify birthweight--outcome association?
Paediatric and perinatal epidemiology 2005;19 Suppl 1():37-40.
2005: Mie-Jef Descheemaeker; Pol Ghesquière; H Symons; Jean-Pierre Fryns; Eric Legius
Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children.
Journal of intellectual disability research : JIDR 2005;49(Pt 1):33-46.
2005: Hilde Van Esch; René Dom; Dorien Bex; Ivo Salden; Jo Caeckebeke; Alain Wibail; Martine Borghgraef; Eric Legius; Jean-Pierre Fryns; Gert Matthijs
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.
European journal of human genetics : EJHG 2005;13(1):121-3.
2004: T J L de Ravel; Kathelijn Keymolen; Elvire Van Assche; Ingrid Wittevronghel; Philippe Moerman; Ivo Salden; Gert Matthijs; Jean-Pierre Fryns; Joris R Vermeesch
Post-zygotic origin of isochromosome 12p.
Prenatal diagnosis 2004;24(12):984-8.
2004: Mie-Jef Descheemaeker; K Roelandts; Thomas De Raedt; Hilde Brems; Jean-Pierre Fryns; Eric Legius
Intelligence in individuals with a neurofibromatosis type 1 microdeletion.
American journal of medical genetics. Part A 2004;131(3):325-6.
2004: Ingrid Witters; J Deprest; C Van Hole; Myriam Hanssens; H Devlieger; Jean-Pierre Fryns
Anogenital malformation with ambiguous genitalia as part of the OEIS complex.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2004;24(7):797-8.
2004: Griet Van Buggenhout; Nicole M C Maas; Jean-Pierre Fryns; Joris R Vermeesch
A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings.
American journal of medical genetics. Part A 2004;131(2):186-9.
2004: Jiong Tao; Hilde Van Esch; M Hagedorn-Greiwe; Kirsten Hoffmann; Bettina Moser; Martine Raynaud; Jürgen Sperner; Jean-Pierre Fryns; Eberhard Schwinger; Jozef Gécz; Hans-Hilger Ropers; Vera Kalscheuer
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
American journal of human genetics 2004;75(6):1149-54.
2004: Cindy Melotte; Sophie Debrock; Thomas M D'Hooghe; Jean-Pierre Fryns; Joris R Vermeesch
Preimplantation genetic diagnosis for an insertional translocation carrier.
Human reproduction (Oxford, England) 2004;19(12):2777-83.
2004: Hilde Van Esch; Paul Mariën; Maryse De Smedt; Jean-Pierre Fryns
A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus.
Clinical dysmorphology 2004;13(4):261-3.
2004: koenraad devriendt; Jean-Pierre Fryns
Diagnostic evaluation for asymmetry: consider genetic mosaicism.
European journal of pediatrics 2004;163(10):634-5.
2004: Griet Van Buggenhout; Cindy Melotte; Binita Dutta; Guy Froyen; Paul van Hummelen; Peter Marynen; Gert Matthijs; T J L de Ravel; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
Journal of medical genetics 2004;41(9):691-8.
2004: Philippe Debeer; Jean-Pierre Fryns; koenraad devriendt; E Baten; Christel Huysmans; Wim J M Van De Ven
A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses.
American journal of medical genetics. Part A 2004;128A(4):439-40.
2004: Kristine Freude; Kirsten Hoffmann; Lars Riff Jensen; Martin B Delatycki; Vincent des Portes; Bettina Moser; Ben Hamel; Hans van Bokhoven; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Jozef Gécz; Steffen Lenzner; Vera Kalscheuer; Hans-Hilger Ropers
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
American journal of human genetics 2004;75(2):305-9.
2004: Joris R Vermeesch; Reinhilde Thoelen; Jean-Pierre Fryns
A familial complex chromosome translocation resulting in duplication of 6p25.
Annales de génétique 2004;47(3):275-80.
2004: Ingrid Witters; Philippe Moerman; Jean-Pierre Fryns
First-trimester scan in trisomy 14 mosaicism.
Prenatal diagnosis 2004;24(7):573-4.
2004: Ingrid Witters; Philippe Moerman; Etienne Mornet; Jean-Pierre Fryns
Positive maternal serum triple test screening in severe early onset hypophosphatasia.
Prenatal diagnosis 2004;24(7):494-7.
2004: Christel Stinckens; Hannie Kremer; Erwin van Wijk; Lies Hoefsloot; Patrick Huygen; Lieve Standaert; Jean-Pierre Fryns; Cor W R J Cremers
Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.
The Annals of otology, rhinology, and laryngology 2004;113(7):587-93.
2004: Efraim H. Rosenberg; Lígia Almeida; Tjitske Kleefstra; Rose S deGrauw; Helger G Yntema; Nadia Bahi; Claude Moraine; Hans-Hilger Ropers; Jean-Pierre Fryns; Ton J DeGrauw; Cornelis Jakobs; Gajja S Salomons
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
American journal of human genetics 2004;75(1):97-105.
2004: Juha Kolehmainen; Robert Wilkinson; Anna-Elina Lehesjoki; Kate Chandler; Satu Kivitie-Kallio; Jill Clayton-Smith; Ann-Liz Träskelin; Laura Waris; Anne Juvonen; Jabbar Khan; Varda Gross-Tsur; Elias Traboulsi; Mette Warburg; Jean-Pierre Fryns; Reijo Norio; Graeme C M Black; Forbes D C Manson
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
American journal of human genetics 2004;75(1):122-7.
2004: Annick Vogels; Marc De Hert; Mie-Jef Descheemaeker; Veerle Govers; koenraad devriendt; Eric Legius; P Prinzie; Jean-Pierre Fryns
Psychotic disorders in Prader-Willi syndrome.
American journal of medical genetics. Part A 2004;127A(3):238-43.
2004: koenraad devriendt; Ann Swillen; Marc Gewillig; Jean-Pierre Fryns; Pierre Moens; Luc De Smet
Velocardiofacial syndrome presenting as distal arthrogryposis.
European journal of pediatrics 2004;163(6):329-30.
2004: Dries Castermans; Valérie Wilquet; Jean Steyaert; Wim Van de Ven; Jean-Pierre Fryns; koenraad devriendt
Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.
Autism : the international journal of research and practice 2004;8(2):141-61.
2004: Tjitske Kleefstra; Helger G Yntema; Astrid R Oudakker; Martijn J G Banning; Vera Kalscheuer; Jamel Chelly; Claude Moraine; Hans-Hilger Ropers; Jean-Pierre Fryns; I M Janssen; Erik A Sistermans; W N Nillesen; L B A de Vries; Ben C J Hamel; Hans van Bokhoven
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
Journal of medical genetics 2004;41(5):394-9.
2004: Frédéric Laumonnier; Frédérique Bonnet-Brilhault; Marie Gomot; Romuald Blanc; Albert David; Marie-Pierre Moizard; Martine Raynaud; Nathalie Ronce; Eric Lemonnier; Patrick Calvas; Béatrice Laudier; Jamel Chelly; Jean-Pierre Fryns; Hans-Hilger Ropers; Ben C J Hamel; Christian Andres; Catherine Barthélémy; Claude Moraine; Sylvain Briault
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
American journal of human genetics 2004;74(3):552-7.
2004: Annick Vogels; Jenneke Van Den Ende; Kathelijn Keymolen; Geert Mortier; koenraad devriendt; Eric Legius; Jean-Pierre Fryns
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.
European journal of human genetics : EJHG 2004;12(3):238-40.
2004: Philippe Debeer; L Vandenbossche; T J L de Ravel; C Desloovere; Luc De Smet; Christel Huysmans; Reinhilde Thoelen; Joris R Vermeesch; Wim J M Van De Ven; Jean-Pierre Fryns
Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.
Clinical genetics 2004;65(2):153-5.
2004: C T R M Schrander-Stumpel; Leopold M G Curfs; Prapto Sastrowijoto; Suzanne B Cassidy; Jaap J P Schrander; Jean-Pierre Fryns
Prader-Willi syndrome: causes of death in an international series of 27 cases.
American journal of medical genetics. Part A 2004;124A(4):333-8.
2004: T J L de Ravel; Jean-Pierre Fryns; J Van Driessche; Joris R Vermeesch
Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation.
American journal of medical genetics. Part A 2004;124A(3):259-62.
2004: Annick Vogels; Jean-Pierre Fryns
Age at diagnosis, body mass index and physical morbidity in children and adults with the Prader-Willi syndrome.
Genetic counseling (Geneva, Switzerland) 2004;15(4):397-404.
2004: T Lukusa; Joris R Vermeesch; Maureen Holvoet; Jean-Pierre Fryns; koenraad devriendt
Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
Genetic counseling (Geneva, Switzerland) 2004;15(3):293-301.
2004: Boyan Dimitrov; koenraad devriendt; Nicole M C Maas; Joris R Vermeesch; D Zahariev; D Avdjieva; A Popova; D A A Popova; Jean-Pierre Fryns; Emil Simeonov
Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23).
Genetic counseling (Geneva, Switzerland) 2004;15(2):191-7.
2004: P Prinzie; Ann Swillen; B Maes; Patrick Onghena; Annick Vogels; A Van Hooste; koenraad devriendt; Cornelis F M Van Lieshout; Jean-Pierre Fryns
Parenting, family contexts, and personality characteristics in youngsters with VCFS.
Genetic counseling (Geneva, Switzerland) 2004;15(2):141-57.
2004: Ute Moog; J J M Engelen; B W Weber; M Van Gelderen; Jean Steyaert; F Baas; H M Sijstermans; Jean-Pierre Fryns
Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12).
Genetic counseling (Geneva, Switzerland) 2004;15(1):73-80.
2004: Philippe Debeer; Luc De Smet; Jean-Pierre Fryns
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5.
Genetic counseling (Geneva, Switzerland) 2004;15(1):67-71.
2004: Marleen Decruyenaere; Gerry Evers-Kiebooms; Trees Cloostermans; Andrea Boogaerts; Koen Demyttenaere; René Dom; Jean-Pierre Fryns
Predictive testing for Huntington's disease: relationship with partners after testing.
Clinical genetics 2004;65(1):24-31.
2004: John Van Borsel; Sigrid De Grande; Griet Van Buggenhout; Jean-Pierre Fryns
Speech and language in Wolf-Hirschhorn syndrome: a case-study.
Journal of communication disorders 2004;37(1):21-33.
2004: Alfredo Orrico; Lucia Galli; Maria Luigia Cavaliere; Livia Garavelli; Jean-Pierre Fryns; Ellen Crushell; Maria Michela Rinaldi; Ana Medeira; Vincenzo Sorrentino
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
European journal of human genetics : EJHG 2004;12(1):16-23.
2003: Sarah A Shoichet; Kirsten Hoffmann; Corinna Menzel; Udo Trautmann; Bettina Moser; Maria Hoeltzenbein; Bernard Echenne; Michael Partington; Hans van Bokhoven; Claude Moraine; Jean-Pierre Fryns; Jamel Chelly; Hans-Dieter Rott; Hans-Hilger Ropers; Vera Kalscheuer
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
American journal of human genetics 2003;73(6):1341-54.
2003: Jacquelyn Bond; Sheila Scott; Daniel J Hampshire; Kelly Springell; Peter Corry; Marc J Abramowicz; Ganeshwaran H Mochida; Raoul Hennekam; Eamonn R Maher; Jean-Pierre Fryns; Abdulrahman Alswaid; Hussain Jafri; Yasmin Rashid; Ammar F Mubaidin; Christopher Walsh; Emma Roberts; C Geoffrey Woods
Protein-truncating mutations in ASPM cause variable reduction in brain size.
American journal of human genetics 2003;73(5):1170-7.
2003: Eric E J Smeets; Els Schollen; Ute Moog; Gert Matthijs; Jos Herbergs; H J M Smeets; Leopold M G Curfs; C T R M Schrander-Stumpel; Jean-Pierre Fryns
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
American journal of medical genetics. Part A 2003;122A(3):227-33.
2003: Anil Agarwal; Jean-Pierre Fryns; Richard J Auchus; Abhimanyu Garg
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
Human molecular genetics 2003;12(16):1995-2001.
2003: Ute Moog; J J M Engelen; C T R M Schrander-Stumpel; Jean-Pierre Fryns
Chromosome bands and ends revisited.
American journal of medical genetics. Part A 2003;121A(1):88-9.
2003: Joris R Vermeesch; Reinhilde Thoelen; Ivo Salden; M Raes; Gert Matthijs; Jean-Pierre Fryns
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.
Journal of medical genetics 2003;40(8):e93.
2003: Els Schollen; Eric E J Smeets; E Deflem; Jean-Pierre Fryns; Gert Matthijs
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.
Human mutation 2003;22(2):116-20.
2003: Joris R Vermeesch; Jean-Pierre Fryns
Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27).
American journal of medical genetics. Part A 2003;120A(2):299-300.
2003: Suzanna G M Frints; Peter Marynen; Dieter Hartmann; Jean-Pierre Fryns; Jean Steyaert; Melitta Schachner; Bettina Rolf; Katleen Craessaerts; An Snellinx; Karen Hollanders; Rudi D'Hooge; Peter Paul De Deyn; Guy Froyen
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior.
Human molecular genetics 2003;12(13):1463-74.
2003: Philippe Debeer; Hilde Peeters; S Driess; L De Smet; K Freese; G Matthijs; Dorothea Bornholdt; koenraad devriendt; Karl-Heinz Grzeschik; Jean-Pierre Fryns; M Kalff-Suske
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
American journal of medical genetics. Part A 2003;120A(1):49-58.
2003: Suzanna G M Frints; Lin Jun; Jean-Pierre Fryns; koenraad devriendt; Rudi Teulingkx; Lut Van den Berghe; Bernice De Vos; Martine Borghgraef; Jamel Chelly; Vincent des Portes; Hans van Bokhoven; Ben Hamel; Hans-Hilger Ropers; Vera Kalscheuer; Martine Raynaud; Claude Moraine; Peter Marynen; Guy Froyen
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
American journal of medical genetics. Part A 2003;119A(3):367-74.
2003: Hans-Hilger Ropers; Maria Hoeltzenbein; Vera Kalscheuer; Helger G Yntema; Ben Hamel; Jean-Pierre Fryns; Jamel Chelly; Michael Partington; Jozef Gecz; Claude Moraine
Nonsyndromic X-linked mental retardation: where are the missing mutations?
Trends in genetics : TIG 2003;19(6):316-20.
2003: Vinaya Simha; Anil Agarwal; Elif Arioglu Oral; Jean-Pierre Fryns; Abhimanyu Garg
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.
The Journal of clinical endocrinology and metabolism 2003;88(6):2821-4.
2003: Philippe Debeer; E Pykels; J Lammens; koenraad devriendt; Jean-Pierre Fryns
Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family.
American journal of medical genetics. Part A 2003;119A(2):188-93.
2003: Alexandre Irrthum; koenraad devriendt; David Chitayat; Gert Matthijs; Conrad Glade; Peter M Steijlen; Jean-Pierre Fryns; Maurice A M van Steensel; Miikka Vikkula
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
American journal of human genetics 2003;72(6):1470-8.
2003: Joris Veltman; Yvonne Jonkers; Inge Nuijten; Irene M Janssen; Walter A Van Der Vliet; Erik H L P G Huys; Joris R Vermeesch; Griet Van Buggenhout; Jean-Pierre Fryns; Ronald J C Admiraal; Paulien Terhal; Didier Lacombe; Ad Geurts van Kessel; Dominique Smeets; Eric F P M Schoenmakers; Conny van Ravenswaaij-Arts
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.
American journal of human genetics 2003;72(6):1578-84.
2003: Juha Kolehmainen; Graeme C M Black; Anne Juvonen; Kate Chandler; Jill Clayton-Smith; Ann-Liz Träskelin; Rahat Perveen; Satu Kivitie-Kallio; Reijo Norio; Mette Warburg; Jean-Pierre Fryns; Albert de La Chapelle; Anna-Elina Lehesjoki
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
American journal of human genetics 2003;72(6):1359-69.
2003: Dries Castermans; Valérie Wilquet; E Parthoens; Christel Huysmans; J Steyaert; L Swinnen; Jean-Pierre Fryns; Wim Van de Ven; koenraad devriendt
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.
Journal of medical genetics 2003;40(5):352-6.
2003: Hilde Peeters; Philippe Debeer; Amos Bairoch; Valérie Wilquet; Christel Huysmans; E Parthoens; Jean-Pierre Fryns; Marc Gewillig; Y Nakamura; N Niikawa; Wim Van de Ven; koenraad devriendt
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse.
Human genetics 2003;112(5-6):573-80.
2003: P Prinzie; Mie-Jef Descheemaeker; Annick Vogels; T Cleymans; Gerbert J T Haselager; Leopold M G Curfs; Walter Hellinckx; Patrick Onghena; Eric Legius; Cornelis F M Van Lieshout; Jean-Pierre Fryns
Personality profiles of children and adolescents with neurofibromatosis type 1.
American journal of medical genetics. Part A 2003;118A(1):1-7.
2003: T J L de Ravel; Joris R Vermeesch; Jean-Pierre Fryns
De novo interstitial tandem duplication of chromosome 20p12.1p13.
American journal of medical genetics. Part A 2003;117A(1):76-9.
2003: Blanka Stibůrková; Jacek Majewski; Katerina Hodanová; Lenka Ondrová; Markéta Jerábková; Marie Zikánová; Petr Vylet'al; Ivan Sebesta; Anthony M Marinaki; Anne Simmonds; Gert Matthijs; Jean-Pierre Fryns; Rosa Torres; Juan García Puig; Jurg Ott; Stanislav Kmoch
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.
European journal of human genetics : EJHG 2003;11(2):145-54.
2003: Gabriel Stefan Gebhardt; koenraad devriendt; Reinhilde Thoelen; Ann Swillen; Elly Pijkels; Jean-Pierre Fryns; Joris R Vermeesch; Marc Gewillig
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.
European journal of human genetics : EJHG 2003;11(2):109-11.
2003: Elfride De Baere; Diane Beysen; Christine Oley; Birgit Lorenz; Julie Cocquet; Petra De Sutter; koenraad devriendt; Michael Dixon; Marc Fellous; Jean-Pierre Fryns; Arturo Garza; Christoffer Jonsrud; Pasi A Koivisto; Amanda Krause; Bart P Leroy; Françoise Meire; Astrid Plomp; Lionel Van Maldergem; Anne De Paepe; Reiner A Veitia; Ludwine MESSIAEN
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
American journal of human genetics 2003;72(2):478-87.
2003: Ingrid Witters; Marie Therèse Van Damme; Paul Ramaekers; F André Van Assche; Jean-Pierre Fryns
Benign multiple diffuse neonatal hemangiomatosis after a pregnancy complicated by polyhydramnios and a placental chorioangioma.
European journal of obstetrics, gynecology, and reproductive biology 2003;106(1):83-5.
2003: Joris R Vermeesch; H Duhamel; P Raeymaekers; K Van Zand; P Verhasselt; Jean-Pierre Fryns; Peter Marynen
A physical map of the chromosome 12 centromere.
Cytogenetic and genome research 2003;103(1-2):63-73.
2003: Hilde Brems; A Vogels; P Ribai; Thomas De Raedt; Jean-Pierre Fryns; Eric Legius
Second polar body inclusion results in diploid/triploid mixoploidy.
Genetic counseling (Geneva, Switzerland) 2003;14(4):425-9.
2003: M Geerts; J Steyaert; Jean-Pierre Fryns
The XYY syndrome: a follow-up study on 38 boys.
Genetic counseling (Geneva, Switzerland) 2003;14(3):267-79.
2003: Ingrid Witters; Jean-Pierre Fryns
Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. A variant example of Nicolaides-Baraitser syndrome?
Genetic counseling (Geneva, Switzerland) 2003;14(2):245-7.
2003: T Lukusa; Maureen Holvoet; Joris R Vermeesch; koenraad devriendt; Jean-Pierre Fryns
Partial monosomy 11q and trisomy 12q: variable expression in two siblings.
Genetic counseling (Geneva, Switzerland) 2003;14(2):155-64.
2003: Greet Vantrappen; Nathalie Rommel; Ann Swillen; Cor W R J Cremers; Jean-Pierre Fryns; koenraad devriendt
Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations.
Acta oto-rhino-laryngologica Belgica 2003;57(2):101-6.
2003: Jean-Pierre Fryns; D Gevers
Goeminne syndrome (OMIM 314300): another male patient 30 years later.
Genetic counseling (Geneva, Switzerland) 2003;14(1):109-11.
2003: Philippe Debeer; L De Borre; Luc De Smet; Jean-Pierre Fryns
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome.
Genetic counseling (Geneva, Switzerland) 2003;14(1):95-100.
2003: Bert De Smedt; Ann Swillen; Pol Ghesquière; koenraad devriendt; Jean-Pierre Fryns
Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence.
Genetic counseling (Geneva, Switzerland) 2003;14(1):15-29.
2003: Els Schollen; Gert Matthijs; Marc Gewillig; Jean-Pierre Fryns; Eric Legius
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
European journal of human genetics : EJHG 2003;11(1):85-8.
2003: Marleen Decruyenaere; Gerry Evers-Kiebooms; Trees Cloostermans; Andrea Boogaerts; Koen Demyttenaere; René Dom; Jean-Pierre Fryns
Psychological distress in the 5-year period after predictive testing for Huntington's disease.
European journal of human genetics : EJHG 2003;11(1):30-8.
2003: Ilaria Longo; Suzanna G M Frints; Jean-Pierre Fryns; Ilaria Meloni; Chiara Pescucci; Francesca Ariani; Martine Borghgraef; Martine Raynaud; Peter Marynen; C Schwartz; Alessandra Renieri; Guy Froyen
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.
Journal of medical genetics 2003;40(1):11-7.
2003: Ute Moog; J J M Engelen; Henny M J van Schrojenstein Lantman-de Valk; Sandra D Driessen; Jean-Pierre Fryns
Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.
Clinical dysmorphology 2003;12(1):35-9.
2003: Jean Steyaert; Eric Legius; Martine Borghgraef; Jean-Pierre Fryns
A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with visual attention tasks.
American journal of medical genetics. Part A 2003;116A(1):44-51.
2002: Suzanna G M Frints; Guy Froyen; Peter Marynen; Jean-Pierre Fryns
X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms.
Clinical genetics 2002;62(6):423-32.
2002: Frédéric Laumonnier; Nathalie Ronce; Ben C J Hamel; Paul Thomas; James Lespinasse; Martine Raynaud; Christine Paringaux; Hans van Bokhoven; Vera Kalscheuer; Jean-Pierre Fryns; Jamel Chelly; Claude Moraine; Sylvain Briault
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
American journal of human genetics 2002;71(6):1450-5.
2002: Ingrid Witters; Philippe Moerman; Jean-Pierre Fryns
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses.
American journal of medical genetics 2002;113(1):23-8.
2002: Joris R Vermeesch; E Baten; Jean-Pierre Fryns; koenraad devriendt
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.
Clinical genetics 2002;62(5):415-7.
2002: Philippe Debeer; R Mols; Christel Huysmans; koenraad devriendt; Wim J M Van De Ven; Jean-Pierre Fryns
Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11).
Clinical genetics 2002;62(5):410-4.
2002: Joris R Vermeesch; M Syrrou; Ivo Salden; F Dhondt; Gert Matthijs; Jean-Pierre Fryns
Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant.
Journal of medical genetics 2002;39(11):e72.
2002: Suzanna G M Frints; Guy Froyen; Peter Marynen; Diane Willekens; Eric Legius; Jean-Pierre Fryns
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.
American journal of medical genetics 2002;112(4):427-8.
2002: Suzanna G M Frints; Martine Borghgraef; Guy Froyen; Peter Marynen; Jean-Pierre Fryns
Clinical study and haplotype analysis in two brothers with Partington syndrome.
American journal of medical genetics 2002;112(4):361-8.
2002: Catherine Derom; Robert Francois Vlietinck; evert thiery; Fernand Leroy; Jean-Pierre Fryns; Robert Derom
The East Flanders Prospective Twin Survey (EFPTS).
Twin research : the official journal of the International Society for Twin Studies 2002;5(5):337-41.
2002: Jean Steyaert; Jean-Pierre Fryns
Psychiatric genetics: the case of single gene disorders.
European child & adolescent psychiatry 2002;11(5):201-9.
2002: Philippe Debeer; T J L de Ravel; koenraad devriendt; Jean-Pierre Fryns; Christel Huysmans; Wim J M Van De Ven
Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects.
American journal of medical genetics 2002;111(4):455-6.
2002: Geneviève Michils; Sabine Tejpar; Jean-Pierre Fryns; Eric Legius; Eric Van Cutsem; Jean-Jacques Cassiman; Gert Matthijs
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).
European journal of human genetics : EJHG 2002;10(9):505-10.
2002: koenraad devriendt; Jean-Pierre Fryns; Francis Lemmens; Juergen Kohlhase; Manuela Liebers
Somatic mosaicism and variable expression of Townes-Brocks syndrome.
American journal of medical genetics 2002;111(2):230-1.
2002: Johan L K Van Hove; Rita Van Damme-Lombaerts; Stephanie Grünewald; Heidi Peters; Boudewijn Van Damme; Jean-Pierre Fryns; Jozef Arnout; Ron A Wevers; E Regula Baumgartner; Brian Fowler
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.
American journal of medical genetics 2002;111(2):195-201.
2002: Eric Legius; C T R M Schrander-Stumpel; Els Schollen; C Pulles-Heintzberger; Marc Gewillig; Jean-Pierre Fryns
PTPN11 mutations in LEOPARD syndrome.
Journal of medical genetics 2002;39(8):571-4.
2002: Ingrid Witters; Bernard Spitz; C Van Hole; koenraad devriendt; Jean-Pierre Fryns; K Verbek
Resolution of non-immune hydrops in Noonan syndrome with favorable outcome.
American journal of medical genetics 2002;110(4):408-9.
2002: Jean-Pierre Fryns; T J L de Ravel
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, pound sterling 1595.
Human genetics 2002;111(1):113.
2002: Bernice De Vos; Nele Jacobs; Lieve Vandemeulebroecke; Catherine Derom; Jean-Pierre Fryns
Coping with twins discordant for intellectual disabilities: the mothers' view.
Twin research : the official journal of the International Society for Twin Studies 2002;5(3):227-30.
2002: Maria Zeniou; Solange Pannetier; Jean-Pierre Fryns; André Hanauer
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.
American journal of human genetics 2002;70(6):1421-33.
2002: Thierry Bienvenu; Karine Poirier; Gaëlle Friocourt; Nadia Bahi; Delphine Beaumont; Fabien Fauchereau; Lamia Ben Jeema; Ramzi Zemni; Marie-Claude Vinet; Fiona Francis; Philippe Couvert; Marie Gomot; Claude Moraine; Hans van Bokhoven; Vera Kalscheuer; Suzanna G M Frints; Jozef Gecz; Kanae Ohzaki; Habiba Chaabouni; Jean-Pierre Fryns; Vincent Desportes; Cherif Beldjord; Jamel Chelly
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Human molecular genetics 2002;11(8):981-91.
2002: Greet Vantrappen; Nathalie Rommel; Cor W R J Cremers; Jean-Pierre Fryns; koenraad devriendt
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency.
American journal of medical genetics 2002;108(4):337-8.
2002: Maria Syrrou; Kathelijn Keymolen; koenraad devriendt; Maureen Holvoet; Reinhilde Thoelen; K Verhofstadt; Jean-Pierre Fryns
Glypican 1 gene: good candidate for brachydactyly type E.
American journal of medical genetics 2002;108(4):310-4.
2002: Petter Strømme; Marie Mangelsdorf; Marie A Shaw; Karen M Lower; Suzanne M E Lewis; Helene Bruyere; Viggo Lütcherath; Agi K Gedeon; Robyn H Wallace; Ingrid E Scheffer; Gillian Turner; Michael Partington; Suzanna G M Frints; Jean-Pierre Fryns; Grant R Sutherland; John C Mulley; Jozef Gécz
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Nature genetics 2002;30(4):441-5.
2002: Ilaria Meloni; Michela Muscettola; Martine Raynaud; Ilaria Longo; Mirella Bruttini; Marie-Pierre Moizard; Marie Gomot; Jamel Chelly; Vincent des Portes; Jean-Pierre Fryns; Hans-Hilger Ropers; Barbara Magi; Cristina Bellan; Nila Volpi; Helger G Yntema; Sarah E Lewis; Jean E Schaffer; Alessandra Renieri
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nature genetics 2002;30(4):436-40.
2002: Ingrid Witters; Philippe Moerman; koenraad devriendt; P Braet; Dominique Van Schoubroeck; F André Van Assche; Jean-Pierre Fryns
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type.
American journal of medical genetics 2002;108(1):41-4.
2002: Philippe Debeer; Eric F P M Schoenmakers; Waleed O Twal; Scott Argraves; L De Smet; Jean-Pierre Fryns; Wim J M Van De Ven
The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
Journal of medical genetics 2002;39(2):98-104.
2002: Ingrid Witters; koenraad devriendt; D Spinnewijn; Philippe Moerman; F André Van Assche; Jean-Pierre Fryns
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies.
American journal of medical genetics 2002;107(3):233-6.
2002: T Lukusa; Eric E J Smeets; Joris R Vermeesch; Jean-Pierre Fryns
Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis.
Genetic counseling (Geneva, Switzerland) 2002;13(4):417-25.
2002: Annick Vogels; Jean-Pierre Fryns
The Prader-Willi syndrome and the Angelman syndrome.
Genetic counseling (Geneva, Switzerland) 2002;13(4):385-96.
2002: P Prinzie; Ann Swillen; Annick Vogels; V Kockuyt; Leopold M G Curfs; Gerbert J T Haselager; Walter Hellinckx; koenraad devriendt; Patrick Onghena; Cornelis F M Van Lieshout; Jean-Pierre Fryns
Personality profiles of youngsters with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2002;13(3):265-80.
2002: Bernice De Vos; Suzanna G M Frints; Martine Borghgraef; Jean-Pierre Fryns
Cognitive and behavioral characteristics in 4 affected males of a family with non-specific X-linked mental retardation and TM4 SF2-gene mutation.
Genetic counseling (Geneva, Switzerland) 2002;13(2):191-4.
2002: Ingrid Witters; Philippe Moerman; R Natens; F André Van Assche; Jean-Pierre Fryns
Multiple congenital anomalies syndrome with multicystic renal dysplasia, postaxial polydactyly and lumbosacral meningocoele. Difficulties in nosological classification and genetic counseling.
Genetic counseling (Geneva, Switzerland) 2002;13(2):147-9.
2002: Annick Vogels; Jean-Pierre Fryns
The velocardiofacial syndrome: a review.
Genetic counseling (Geneva, Switzerland) 2002;13(2):105-13.
2002: T Lukusa; Griet Van Buggenhout; koenraad devriendt; Jean-Pierre Fryns
Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.
Genetic counseling (Geneva, Switzerland) 2002;13(1):1-10.
2002: Annick Vogels; Maureen Holvoet; Mie-Jef Descheemaeker; Jean-Pierre Fryns; koenraad devriendt
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?
Annales de génétique 2002;45(1):1-3.
2002: Greet Vantrappen; Nathalie Rommel; W Wellens; Cor W R J Cremers; Jean-Pierre Fryns; koenraad devriendt
Autosomal dominant isolated velopharyngeal insufficiency.
Clinical genetics 2002;61(1):74-6.
2002: Mie-Jef Descheemaeker; Annick Vogels; Veerle Govers; Martine Borghgraef; Diane Willekens; Ann Swillen; W M A Verhoeven; Jean-Pierre Fryns
Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.
Journal of intellectual disability research : JIDR 2002;46(Pt 1):41-50.
2002: Ingrid Witters; koenraad devriendt; Eric Legius; Gert Matthijs; Dominique Van Schoubroeck; F André Van Assche; Jean-Pierre Fryns
Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH).
Prenatal diagnosis 2002;22(1):29-33.
2002: Helger G Yntema; Astrid R Oudakker; Tjitske Kleefstra; Ben C J Hamel; Hans van Bokhoven; Jamel Chelly; Vera Kalscheuer; Jean-Pierre Fryns; Martine Raynaud; Marie-Pierre Moizard; Claude Moraine
In-frame deletion in MECP2 causes mild nonspecific mental retardation.
American journal of medical genetics 2002;107(1):81-3.
2001: Ingrid Witters; Hans van Bokhoven; A Goossens; F André Van Assche; Jean-Pierre Fryns
Split-hand/split-foot malformation with paternal mutation in the p63 gene.
Prenatal diagnosis 2001;21(13):1119-22.
2001: Ingrid Witters; koenraad devriendt; Philippe Moerman; J Caudron; C Van Hole; Jean-Pierre Fryns
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance.
American journal of medical genetics 2001;104(3):209-13.
2001: Maria Syrrou; Martine Borghgraef; Jean-Pierre Fryns
Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3::pter-qter).
American journal of medical genetics 2001;104(3):199-203.
2001: Ingrid Witters; Eric Legius; Philippe Moerman; Jan Deprest; Dominique Van Schoubroeck; D Timmerman; F André Van Assche; Jean-Pierre Fryns
Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia.
American journal of medical genetics 2001;103(4):278-82.
2001: Ingrid Witters; Philippe Moerman; D Louwagie; F André Van Assche; Barbara R Migeon; Jean-Pierre Fryns
Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome.
Annales de génétique 2001;44(4):179-82.
2001: Ingrid Witters; Philippe Moerman; M Muenke; F André Van Assche; koenraad devriendt; Eric Legius; Dominique Van Schoubroeck; Jean-Pierre Fryns
Semilobar holoprosencephaly in a 46,XY female fetus.
Prenatal diagnosis 2001;21(10):839-41.
2001: T J L de Ravel; Eric Legius; Hilde Brems; R Van Hoestenberghe; Phillipe Gillis; Jean-Pierre Fryns
Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor.
Clinical dysmorphology 2001;10(4):263-7.
2001: Hilde Peeters; Philippe Debeer; Peter Groenen; Hilde Van Esch; G Vanderlinden; Benedicte Eyskens; Luc Mertens; Marc Gewillig; Wim Van de Ven; Jean-Pierre Fryns; koenraad devriendt
Recurrent involvement of chromosomal region 6q21 in heterotaxy.
American journal of medical genetics 2001;103(1):44-7.
2001: M Veugelers; Bart De Cat; Nathalie Delande; Cary Esselens; I Bonk; Joris R Vermeesch; Peter Marynen; Jean-Pierre Fryns; Guido David
A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 gene cluster on chromosome 13q32.
Matrix biology : journal of the International Society for Matrix Biology 2001;20(5-6):375-85.
2001: Hans van Bokhoven; Ben C J Hamel; Michael Bamshad; Eugenio Sangiorgi; Fiorella Gurrieri; Pascal Duijf; Kaate R J Vanmolkot; Ellen van Beusekom; Sylvia van Beersum; Jacopo Celli; Gerard F M Merkx; R Tenconi; Jean-Pierre Fryns; Alain Verloes; Ruth Newbury-Ecob; A Raas-Rotschild; Frank Majewski; F A Beemer; Andreas R Janecke; David Chitayat; G Crisponi; Hulya Kayserili; J R Yates; Giovanni Neri; Han G Brunner
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
American journal of human genetics 2001;69(3):481-92.
2001: A Goffin; Lies Hoefsloot; E Bosgoed; Ann Swillen; Jean-Pierre Fryns
PTEN mutation in a family with Cowden syndrome and autism.
American journal of medical genetics 2001;105(6):521-4.
2001: C López-Correa; Michael O Dorschner; Hilde Brems; C Lázaro; M Clementi; Meena Upadhyaya; D Dooijes; U Moog; Hildegard Kehrer-Sawatzki; JL Rutkowski; Jean-Pierre Fryns; Peter Marynen; K Stephens; Eric Legius
Recombination hotspot in NF1 microdeletion patients.
Human molecular genetics 2001;10(13):1387-92.
2001: Griet Van Buggenhout; Conny van Ravenswaaij-Arts; H Mieloo; Maria Syrrou; Ben Hamel; H Brunner; Jean-Pierre Fryns
Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.
Annales de génétique 2001;44(2):89-92.
2001: Suzanna G M Frints; Jean-Pierre Fryns; L Lagae; Maria Syrrou; Peter Marynen; koenraad devriendt
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.
Annales de génétique 2001;44(2):71-6.
2001: koenraad devriendt; Annette S Kim; G Mathijs; Suzanna G M Frints; M Schwartz; J J Van Den Oord; G E Verhoef; M A Boogaerts; Jean-Pierre Fryns; Daoqi You; Michael K Rosen; Peter Vandenberghe
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
Nature genetics 2001;27(3):313-7.
2001: T J L de Ravel; E Deckers; P L Alliet; Patrice X. PETIT; Jean-Pierre Fryns
The ICF syndrome: new case and update.
Genetic counseling (Geneva, Switzerland) 2001;12(4):379-85.
2001: Philippe Debeer; Luc De Smet; Jean-Pierre Fryns
Intrafamilial clinical variability in type C brachydactyly.
Genetic counseling (Geneva, Switzerland) 2001;12(4):353-8.
2001: Ann Swillen; koenraad devriendt; Pol Ghesquière; Jean-Pierre Fryns
Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age.
Genetic counseling (Geneva, Switzerland) 2001;12(4):309-17.
2001: Ute Moog; C E M de Die-Smulders; C T R M Schrander-Stumpel; J J M Engelen; A J H Hamers; Suzanna G M Frints; Jean-Pierre Fryns
Holoprosencephaly: the Maastricht experience.
Genetic counseling (Geneva, Switzerland) 2001;12(3):287-98.
2001: Luc De Smet; koenraad devriendt; Jean-Pierre Fryns
Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father.
Genetic counseling (Geneva, Switzerland) 2001;12(3):251-4.
2001: T Lukusa; Diane Willekens; N Lukusa; F De Cock; Jean-Pierre Fryns
Terminal 6q25.3 deletion and abnormal behaviour.
Genetic counseling (Geneva, Switzerland) 2001;12(3):213-21.
2001: Griet Van Buggenhout; JC Trommelen; H G Brunner; Ben C J Hamel; Jean-Pierre Fryns
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
Annales de génétique 2001;44(1):47-55.
2001: Ingrid Witters; Philippe Moerman; F André Van Assche; Jean-Pierre Fryns
Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence.
Genetic counseling (Geneva, Switzerland) 2001;12(1):91-4.
2001: Eric E J Smeets; L Vandenbossche; Jean-Pierre Fryns
Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.
Genetic counseling (Geneva, Switzerland) 2001;12(1):85-9.
2001: Carlo L M Marcelis; C T R M Schrander-Stumpel; J J M Engelen; Anneke M J Schoonbrood-Lenssen; A Willemse; Frits A Beemer; Sabine Sigaudy; Chantal Missirian; Nicole Philip; Jean-Pierre Fryns
Wolf-Hirschhorn (4P-) syndrome in adults.
Genetic counseling (Geneva, Switzerland) 2001;12(1):35-48.
2001: Jean-Pierre Fryns
Micro-ablepharon of the upper eyelids and vaginal atresia.
Genetic counseling (Geneva, Switzerland) 2001;12(1):101-2.
2001: Griet Van Buggenhout; J M Trijbels; Ron A Wevers; JC Trommelen; Ben C J Hamel; H G Brunner; Jean-Pierre Fryns
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.
Genetic counseling (Geneva, Switzerland) 2001;12(1):1-21.
2001: Greet Vantrappen; Nathalie Rommel; koenraad devriendt; Cor W R J Cremers; Louw Feenstra; Jean-Pierre Fryns
Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
Acta oto-rhino-laryngologica Belgica 2001;55(1):43-8.
2001: Ingrid Witters; J Schreurs; J Van Wing; W Wouters; Jean-Pierre Fryns
Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum.
Prenatal diagnosis 2001;21(1):62-4.
2000: Jean Steyaert; C E M de Die-Smulders; Jean-Pierre Fryns; E Goossens; Diane Willekens
Behavioral phenotype in childhood type of dystrophia myotonica.
American journal of medical genetics 2000;96(6):888-9.
2000: Jean-Pierre Fryns; Martine Borghgraef; T W Brown; Jamel Chelly; Gene S Fisch; Ben Hamel; André Hanauer; D Lacombe; L Luo; J N MacPherson; J L Mandel; Claude Moraine; John C Mulley; D Nelson; B Oostra; Michael Partington; G J Ramakers; Hans-Hilger Ropers; Francois Rousseau; C Schwartz; P Steinbach; claude stoll; L Tranebjaerg; Gillian Turner; Hans van Bokhoven; A Vianna-Morgante
9th international workshop on fragile X syndrome and X-linked mental retardation.
American journal of medical genetics 2000;94(5):345-60.
2000: Suzanna G M Frints; Luc De Smet; G Fabry; Jean-Pierre Fryns
A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism.
Clinical dysmorphology 2000;9(4):273-6.
2000: Ilaria Meloni; Mirella Bruttini; Ilaria Longo; Francesca Mari; Flavio Rizzolio; Patrizia D'Adamo; K Denvriendt; Jean-Pierre Fryns; Daniela Toniolo; Alessandra Renieri
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.
American journal of human genetics 2000;67(4):982-5.
2000: Stephan J Claes; koenraad devriendt; Gert Van Goethem; L Roelen; J Meireleire; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
Novel syndromic form of X-linked complicated spastic paraplegia.
American journal of medical genetics 2000;94(1):1-4.
2000: Thierry Bienvenu; Vincent des Portes; N McDonell; Alain Carrié; Ramzi Zemni; Philippe Couvert; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; K Allen; Christopher Walsh; J Boué; Axel Kahn; Jamel Chelly; Cherif Beldjord
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
American journal of medical genetics 2000;93(4):294-8.
2000: Philippe Debeer; Eric F P M Schoenmakers; Reinhilde Thoelen; Maureen Holvoet; T Kuittinen; Guy Fabry; Jean-Pierre Fryns; Frances R Goodman; Wim J M Van De Ven
Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.
European journal of human genetics : EJHG 2000;8(8):561-70.
2000: Hilde Van Esch; Peter Groenen; M Andrew Nesbit; S Schuffenhauer; Peter Lichtner; G Vanderlinden; Brian Harding; R Beetz; R W Bilous; I Holdaway; N J Shaw; Jean-Pierre Fryns; Wim Van de Ven; Rajesh V Thakker; koenraad devriendt
GATA3 haplo-insufficiency causes human HDR syndrome.
Nature 2000;406(6794):419-22.
2000: Kathelijn Keymolen; R Van Damme-Lombaerts; Alain Verloes; Jean-Pierre Fryns
Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity.
American journal of medical genetics 2000;93(1):19-21.
2000: Annick Vogels; koenraad devriendt; Joris R Vermeesch; R Van Dael; Peter Marynen; P Dewaele; J Hageman; Maureen Holvoet; Jean-Pierre Fryns
Cryptic translocation t(5;18) in familial mental retardation.
Annales de génétique 2000;43(3-4):117-23.
2000: M Veugelers; B D Cat; Serge Muyldermans; Gunter Reekmans; Nathalie Delande; Suzanna G M Frints; Eric Legius; Jean-Pierre Fryns; C T R M Schrander-Stumpel; B Weidle; N Magdalena; Guido David
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.
Human molecular genetics 2000;9(9):1321-8.
2000: Ingrid Witters; koenraad devriendt; Philippe Moerman; C Van Hole; Jean-Pierre Fryns
Diaphragmatic hernia as the first echographic sign in Apert syndrome.
Prenatal diagnosis 2000;20(5):404-6.
2000: koenraad devriendt; K Keymolen; L Roelen; Gert Van Goethem; J Meireleire; Jean-Pierre Fryns
Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.
Clinical dysmorphology 2000;9(2):111-4.
2000: T Lukusa; koenraad devriendt; Maureen Holvoet; Jean-Pierre Fryns
Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.
American journal of medical genetics 2000;91(3):192-7.
2000: Ramzi Zemni; Thierry Bienvenu; Marie-Claude Vinet; abdelaziz sefiani; Alain Carrié; Pierre Billuart; N McDonell; Philippe Couvert; Fiona Francis; Philippe Chafey; Fabien Fauchereau; Gaëlle Friocourt; Vincent des Portes; A Cardona; Suzanna G M Frints; Alfons Meindl; Oliver Brandau; Nathalie Ronce; Claude Moraine; Hans van Bokhoven; Hans-Hilger Ropers; Ralf Sudbrak; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Jamel Chelly
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Nature genetics 2000;24(2):167-70.
2000: Jean-Pierre Fryns
MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients.
Genetic counseling (Geneva, Switzerland) 2000;11(4):399-402.
2000: Ingrid Witters; Marc Van Ranst; Jean-Pierre Fryns
Cytomegalovirus reactivation in pregnancy and subsequent isolated bilateral hearing loss in the infant.
Genetic counseling (Geneva, Switzerland) 2000;11(4):375-8.
2000: Griet Van Buggenhout; M J Descheemaeker; P Thiry; JC Trommelen; Ben C J Hamel; Jean-Pierre Fryns
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications.
Genetic counseling (Geneva, Switzerland) 2000;11(4):363-73.
2000: E Goossens; Jean Steyaert; C E M de Die-Smulders; Diane Willekens; Jean-Pierre Fryns
Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy.
Genetic counseling (Geneva, Switzerland) 2000;11(4):317-27.
2000: Greet Vantrappen; Louw Feenstra; Jean-Pierre Fryns
Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the Branchio-Oculo-Facial syndrome.
Genetic counseling (Geneva, Switzerland) 2000;11(3):273-6.
2000: Ingrid Witters; Philippe Moerman; Jean-Pierre Fryns
Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome.
Genetic counseling (Geneva, Switzerland) 2000;11(3):215-9.
2000: T Lukusa; Jean-Pierre Fryns
Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence.
Genetic counseling (Geneva, Switzerland) 2000;11(2):119-26.
2000: D Willekens; Paul De Cock; Jean-Pierre Fryns
Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms.
Genetic counseling (Geneva, Switzerland) 2000;11(2):103-10.
2000: Greet Vantrappen; Louw Feenstra; C Macours-Verelst; Jean-Pierre Fryns
Mandibulo-acral dysplasia in a one-year-old boy.
Genetic counseling (Geneva, Switzerland) 2000;11(1):49-52.
2000: Ingrid Witters; Jean-Pierre Fryns
Prenatal diagnosis of central nervous system abnormalities: diagnostic possibilities and limitations of fetal neurosonography.
Genetic counseling (Geneva, Switzerland) 2000;11(1):3-11.
1999: Helger G Yntema; Bellinda van den Helm; J Kissing; Gerard van Duijnhoven; Francis A M Poppelaars; J Chelly; Claude Moraine; Jean-Pierre Fryns; Ben C J Hamel; H Heilbronner; H J Pander; Han G Brunner; Hans-Hilger Ropers; Frans P M Cremers; Hans van Bokhoven
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
Genomics 1999;62(3):332-43.
1999: Ann Swillen; L Vandeputte; J Cracco; B Maes; Pol Ghesquière; koenraad devriendt; Jean-Pierre Fryns
Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability?
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 1999;5(4):230-41.
1999: Joris R Vermeesch; H Duhamel; Patrice X. PETIT; Daniela Falzetti; Jean-Pierre Fryns; Peter Marynen
Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male.
Human genetics 1999;105(6):611-8.
1999: Marleen Decruyenaere; Gerry Evers-Kiebooms; Andrea Boogaerts; Jean-Jacques Cassiman; Trees Cloostermans; Koen Demyttenaere; René Dom; Jean-Pierre Fryns
Psychological functioning before predictive testing for Huntington's disease: the role of the parental disease, risk perception, and subjective proximity of the disease.
Journal of medical genetics 1999;36(12):897-905.
1999: Hubertus W van den Borne; Rob Van Hooren; Miriam A van Gestel; P Rienmeijer; Jean-Pierre Fryns; Leopold M G Curfs
Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome.
Patient education and counseling 1999;38(3):205-16.
1999: Ute Moog; P Maroteaux; C T R M Schrander-Stumpel; André Van Ooij; Jaap J P Schrander; Jean-Pierre Fryns
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?
Journal of medical genetics 1999;36(11):856-8.
1999: Alain Carrié; Lin Jun; Thierry Bienvenu; Marie-Claude Vinet; N McDonell; Philippe Couvert; Ramzi Zemni; A Cardona; Griet Van Buggenhout; Suzanna G M Frints; Ben Hamel; Claude Moraine; Hans-Hilger Ropers; T Strom; G R Howell; A Whittaker; Mark T Ross; Axel Kahn; Jean-Pierre Fryns; Cherif Beldjord; Peter Marynen; Jamel Chelly
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
Nature genetics 1999;23(1):25-31.
1999: Griet Van Buggenhout; JC Trommelen; A Schoenmaker; C De Bal; J J Verbeek; D F Smeets; H H Ropers; koenraad devriendt; Ben C J Hamel; Jean-Pierre Fryns
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care.
American journal of medical genetics 1999;85(4):376-84.
1999: Stephan J Claes; P Volcke; koenraad devriendt; Maureen Holvoet; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1.
American journal of medical genetics 1999;85(3):283-7.
1999: Anne De Paepe; Bart Loeys; koenraad devriendt; Jean-Pierre Fryns
Occipital Horn syndrome in a 2-year-old boy.
Clinical dysmorphology 1999;8(3):179-83.
1999: Gene S Fisch; Nancy Carpenter; Jeanette J A Holden; Patricia N Howard-Peebles; A Maddalena; Martine Borghgraef; Jean Steyaert; Jean-Pierre Fryns
Longitudinal changes in cognitive and adaptive behavior in fragile X females: a prospective multicenter analysis.
American journal of medical genetics 1999;83(4):308-12.
1999: Hilde Van Esch; Peter Groenen; S Daw; A Poffyn; Maureen Holvoet; P Scambler; Jean-Pierre Fryns; Wim Van de Ven; koenraad devriendt
Partial DiGeorge syndrome in two patients with a 10p rearrangement.
Clinical genetics 1999;55(4):269-76.
1999: koenraad devriendt; Gert Matthijs; R Van Dael; Marc Gewillig; Benedicte Eyskens; Helle Hjalgrim; B Dolmer; J McGaughran; K Bröndum-Nielsen; Peter Marynen; Jean-Pierre Fryns; Joris R Vermeesch
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
American journal of human genetics 1999;64(4):1119-26.
1999: koenraad devriendt; Gert Matthijs; Maureen Holvoet; Eric F P M Schoenmakers; Jean-Pierre Fryns
Triplication of distal chromosome 10q.
Journal of medical genetics 1999;36(3):242-5.
1999: T Lukusa; L van den Berghe; Eric E J Smeets; Jean-Pierre Fryns
Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
Annales de génétique 1999;42(4):215-20.
1999: Greet Vantrappen; Louw Feenstra; Jean-Pierre Fryns
On the association profound nerve deafness, semilobar holoprosencephaly, and minor midline developmental anomalies.
Genetic counseling (Geneva, Switzerland) 1999;10(4):399-401.
1999: Jean-Pierre Fryns; M Dumoulin; Greet Hens
Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2.
Genetic counseling (Geneva, Switzerland) 1999;10(4):395-8.
1999: K Keymolen; Luc De Smet; H Kenis; Jean-Pierre Fryns
Segmentary fibrous dysplasia manifesting as macrodactyly.
Genetic counseling (Geneva, Switzerland) 1999;10(4):373-6.
1999: L De Smet; K Keymolen; Jean-Pierre Fryns
Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4-5 synostosis.
Genetic counseling (Geneva, Switzerland) 1999;10(4):369-72.
1999: Kathelijn Keymolen; Luc De Smet; P Bracke; Jean-Pierre Fryns
The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.
Genetic counseling (Geneva, Switzerland) 1999;10(3):295-300.
1999: M Tabaku; Eric Legius; W Robberecht; R Sciot; Jean-Pierre Fryns; J J Cassiman; Gert Matthijs
A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation.
Genetic counseling (Geneva, Switzerland) 1999;10(3):285-93.
1999: T Lukusa; koenraad devriendt; Jean-Pierre Fryns
A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).
Annales de génétique 1999;42(2):91-4.
1999: Griet Van Buggenhout; JC Trommelen; Ben Hamel; Jean-Pierre Fryns
13q deletion syndrome in an adult mentally retarded patient.
Genetic counseling (Geneva, Switzerland) 1999;10(2):177-81.
1999: L Plissart; Jean-Pierre Fryns
Early development (5 to 48 months) in Williams syndrome. A study of 14 children.
Genetic counseling (Geneva, Switzerland) 1999;10(2):151-6.
1999: E Goossens; R Cayenberghs; Jean-Pierre Fryns
Moderate mental retardation without dysmorphic symptoms in intrachromosomal 11p12 duplication.
Genetic counseling (Geneva, Switzerland) 1999;10(2):137-40.
1999: E Goossens; P Decock; S Potgieter; Jean-Pierre Fryns
Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.
Genetic counseling (Geneva, Switzerland) 1999;10(2):133-6.
1999: T Lukusa; koenraad devriendt; Jaak Jaeken; Jean-Pierre Fryns
Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation.
Clinical dysmorphology 1999;8(1):47-51.
1999: Ann Swillen; koenraad devriendt; Eric Legius; P Prinzie; Annick Vogels; Pol Ghesquière; Jean-Pierre Fryns
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.
Genetic counseling (Geneva, Switzerland) 1999;10(1):79-88.
1999: Nathalie Rommel; Greet Vantrappen; Ann Swillen; koenraad devriendt; Louw Feenstra; Jean-Pierre Fryns
Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 1999;10(1):71-8.
1999: Hilde Van Esch; Peter Groenen; Jean-Pierre Fryns; Wim Van de Ven; koenraad devriendt
The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
Genetic counseling (Geneva, Switzerland) 1999;10(1):59-65.
1999: Greet Vantrappen; koenraad devriendt; Ann Swillen; Nathalie Rommel; Annick Vogels; Benedicte Eyskens; Marc Gewillig; Louw Feenstra; Jean-Pierre Fryns
Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
Genetic counseling (Geneva, Switzerland) 1999;10(1):3-9.
1998: Ann Swillen; koenraad devriendt; Greet Vantrappen; Annick Vogels; Nathalie Rommel; Jean-Pierre Fryns; Benedicte Eyskens; Marc Gewillig; M Dumoulin
Familial deletions of chromosome 22q11: the Leuven experience.
American journal of medical genetics 1998;80(5):531-2.
1998: T Lukusa; Jean-Pierre Fryns
Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.
American journal of medical genetics 1998;80(5):454-8.
1998: Jean-Pierre Fryns; Griet Van Buggenhout
Structural chromosome rearrangements in couples with recurrent fetal wastage.
European journal of obstetrics, gynecology, and reproductive biology 1998;81(2):171-6.
1998: Ingrid Witters; Griet Van Buggenhout; Philippe Moerman; Jean-Pierre Fryns
Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy.
Prenatal diagnosis 1998;18(12):1304-7.
1998: Jean-Pierre Fryns; L Lagae; W B Rizzo
Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome?
Clinical dysmorphology 1998;7(4):275-7.
1998: T Lukusa; koenraad devriendt; Maureen Holvoet; Jean-Pierre Fryns
Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.
Clinical genetics 1998;54(3):224-30.
1998: koenraad devriendt; Jean-Pierre Fryns; G Mortier; M N van Thienen; Kathelijn Keymolen
The annual incidence of DiGeorge/velocardiofacial syndrome.
Journal of medical genetics 1998;35(9):789-90.
1998: koenraad devriendt; Gert Matthijs; B Van Damme; D Van Caesbroeck; M Eccles; Y Vanrenterghem; Jean-Pierre Fryns; Anita Leys
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
Human genetics 1998;103(2):149-53.
1998: Thierry Bienvenu; Vincent des Portes; A Saint Martin; N McDonell; Pierre Billuart; Alain Carrié; Marie-Claude Vinet; Philippe Couvert; D Toniolo; Hans-Hilger Ropers; Claude Moraine; Hans van Bokhoven; Jean-Pierre Fryns; Axel Kahn; Cherif Beldjord; Jamel Chelly
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Human molecular genetics 1998;7(8):1311-5.
1998: Jean-Pierre Fryns; D Willekens; Dominique Van Schoubroeck; Philippe Moerman
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene.
Clinical genetics 1998;54(1):86-9.
1998: Cornelis F M Van Lieshout; R E De Meyer; Leopold M G Curfs; Jean-Pierre Fryns
Family contexts, parental behaviour, and personality profiles of children and adolescents with Prader-Willi, fragile-X, or Williams syndrome.
Journal of child psychology and psychiatry, and allied disciplines 1998;39(5):699-710.
1998: Gert Matthijs; koenraad devriendt; Jean-Pierre Fryns
The prenatal diagnosis of spinal muscular atrophy.
Prenatal diagnosis 1998;18(6):607-10.
1998: koenraad devriendt; D Stoffelen; R Pfeiffer; Anita Leys; Jean-Pierre Fryns
Oto-onycho-peroneal syndrome: confirmation of a syndrome.
Journal of medical genetics 1998;35(6):508-9.
1998: koenraad devriendt; Ann Swillen; Jean-Pierre Fryns
Deletion in chromosome region 22q11 in a child with CHARGE association.
Clinical genetics 1998;53(5):408-10.
1998: C T R M Schrander-Stumpel; Jean-Pierre Fryns
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
European journal of pediatrics 1998;157(5):355-62.
1998: Pierre Billuart; Thierry Bienvenu; Nathalie Ronce; Vincent des Portes; Marie-Claude Vinet; Ramzi Zemni; H Roest Crollius; Alain Carrié; Fabien Fauchereau; M Cherry; Sylvain Briault; Ben Hamel; Jean-Pierre Fryns; Cherif Beldjord; Axel Kahn; Claude Moraine; Jamel Chelly
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Nature 1998;392(6679):923-6.
1998: Peter Groenen; G Vanderlinden; koenraad devriendt; Jean-Pierre Fryns; Wim J M Van De Ven
Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia.
Genomics 1998;49(2):218-29.
1998: Jean-Pierre Fryns; C Van Lingen; koenraad devriendt; Eric Legius; P Raus
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.
Journal of medical genetics 1998;35(4):333-5.
1998: Cornelis F M Van Lieshout; R E de Meyer; Leopold M G Curfs; Hans Koot; Jean-Pierre Fryns
Problem behaviors and personality of children and adolescents with Prader-Willi syndrome.
Journal of pediatric psychology 1998;23(2):111-20.
1998: koenraad devriendt; Peter Groenen; Hilde Van Esch; M van Dijck; Wim Van de Ven; Jean-Pierre Fryns; W Proesmans
Vesico-ureteral reflux: a genetic condition?
European journal of pediatrics 1998;157(4):265-71.
1998: Suzanna G M Frints; E F Schoenmakers; Eric E J Smeets; Patrice X. PETIT; Jean-Pierre Fryns
De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.
American journal of medical genetics 1998;75(2):153-8.
1998: Eric Legius; W Daenen; V Vandenbergh; G Verbeeck; Marie Bex; Jean-Pierre Fryns
Syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).
Genetic counseling (Geneva, Switzerland) 1998;9(4):287-90.
1998: koenraad devriendt; Gert Matthijs; J Meireleire; L Roelen; Griet Van Buggenhout; Jean-Pierre Fryns
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).
Genetic counseling (Geneva, Switzerland) 1998;9(4):283-6.
1998: Griet Van Buggenhout; Luc De Smet; P Maroteaux; Jean-Pierre Fryns
Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth.
Genetic counseling (Geneva, Switzerland) 1998;9(4):277-81.
1998: Patrice X. PETIT; koenraad devriendt; M Azou; Marc Gewillig; Jean-Pierre Fryns
Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes.
Genetic counseling (Geneva, Switzerland) 1998;9(4):271-5.
1998: T Lukusa; Griet Van Buggenhout; koenraad devriendt; J Meireleire; Gert Van Goethem; L Roelen; Jean-Pierre Fryns
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.
Annales de génétique 1998;41(4):199-204.
1998: Patrice X. PETIT; koenraad devriendt; Joris R Vermeesch; J Meireleire; Jean-Pierre Fryns
Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p).
Genetic counseling (Geneva, Switzerland) 1998;9(3):215-21.
1998: Ute Moog; Anneke M J Schoonbrood-Lenssen; C T R M Schrander-Stumpel; Jean-Pierre Fryns
Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia?
Genetic counseling (Geneva, Switzerland) 1998;9(3):211-3.
1998: Griet Van Buggenhout; JC Trommelen; Ben Hamel; Jean-Pierre Fryns
Björnstad syndrome in a patient with mental retardation.
Genetic counseling (Geneva, Switzerland) 1998;9(3):201-4.
1998: koenraad devriendt; Maureen Holvoet; Jean-Pierre Fryns
Further delineation of the KBG syndrome.
Genetic counseling (Geneva, Switzerland) 1998;9(3):191-4.
1998: Philippe Debeer; Eric F P M Schoenmakers; Reinhilde Thoelen; Jean-Pierre Fryns; Wim J M Van De Ven
Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly.
Cytogenetics and cell genetics 1998;81(3-4):229-34.
1998: Griet Van Buggenhout; L De Coen; Jean-Pierre Fryns
Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.
Annales de génétique 1998;41(2):77-81.
1998: Jean-Pierre Fryns; Eric E J Smeets; koenraad devriendt; Patrice X. PETIT
Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.
Annales de génétique 1998;41(2):73-6.
1998: Joris R Vermeesch; Daniela Falzetti; Griet Van Buggenhout; Jean-Pierre Fryns; Peter Marynen
Chromosome healing of constitutional chromosome deletions studied by microdissection.
Cytogenetics and cell genetics 1998;81(1):68-72.
1998: Patrice X. PETIT; koenraad devriendt; Joris R Vermeesch; Paul De Cock; Jean-Pierre Fryns
Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation.
Annales de génétique 1998;41(1):22-6.
1998: Jean-Pierre Fryns; koenraad devriendt; C Detroch; P Decock
Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia.
Genetic counseling (Geneva, Switzerland) 1998;9(1):51-4.
1998: Philippe Moerman; Jean-Pierre Fryns
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study.
Genetic counseling (Geneva, Switzerland) 1998;9(1):39-43.
1998: Suzanna G M Frints; C T R M Schrander-Stumpel; E F Schoenmakers; J J M Engelen; A B Reekers; A M Van den Neucker; Eric E J Smeets; H Devlieger; Jean-Pierre Fryns
Strong variable clinical presentation in 3 patients with 7q terminal deletion.
Genetic counseling (Geneva, Switzerland) 1998;9(1):5-14.
1998: koenraad devriendt; Dominique Van Schoubroeck; Benedicte Eyskens; Greet Vantrappen; Ann Swillen; Marc Gewillig; M Dumoulin; Philippe Moerman; K Vandenberghe; Jean-Pierre Fryns
Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.
Prenatal diagnosis 1998;18(1):68-72.
1998: koenraad devriendt; Dominique Van Schoubroeck; Benedicte Eyskens; Marc Gewillig; K Vandenberghe; Jean-Pierre Fryns
Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect.
Prenatal diagnosis 1998;18(1):65-7.
1998: koenraad devriendt; L Standaert; C Van Hole; Hugo Devlieger; Jean-Pierre Fryns
Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.
Journal of medical genetics 1998;35(1):70-1.
1997: Stephan J Claes; Annick Vogels; Maureen Holvoet; koenraad devriendt; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).
American journal of medical genetics 1997;73(4):474-9.
1997: Marleen Decruyenaere; Gerry Evers-Kiebooms; Andrea Boogaerts; Trees Cloostermans; Jean-Jacques Cassiman; Koen Demyttenaere; René Dom; Jean-Pierre Fryns; Herman Van Den Berghe
Non-participation in predictive testing for Huntington's disease: individual decision-making, personality and avoidant behaviour in the family.
European journal of human genetics : EJHG 1997;5(6):351-63.
1997: I Claeys; Maureen Holvoet; Benedicte Eyskens; P Adriaensens; Marc Gewillig; Jean-Pierre Fryns; koenraad devriendt
A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.
American journal of medical genetics 1997;74(5):515-20.
1997: Stephan J Claes; koenraad devriendt; Patrizia D'Adamo; J Meireleire; Petra Raeymaekers; Daniela Toniolo; Jean-Jacques Cassiman; Jean-Pierre Fryns
X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.
Clinical genetics 1997;52(3):155-61.
1997: Jean Steyaert; S Umans; Diane Willekens; Eric Legius; E Pijkels; C E M de Die-Smulders; H Van den Berghe; Jean-Pierre Fryns
A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy.
Clinical genetics 1997;52(3):135-41.
1997: Stephan J Claes; koenraad devriendt; Lieven Lagae; Berten Ceulemans; L Dom; PJ Casaer; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.
Annals of neurology 1997;42(3):360-4.
1997: Jean-Pierre Fryns; Dominique Van Schoubroeck; K Vandenberghe; H Nagels; P Klerckx
Diagnostic echographic findings in cryptophthalmos syndrome (Fraser syndrome).
Prenatal diagnosis 1997;17(6):582-4.
1997: Ann Swillen; koenraad devriendt; Eric Legius; Benedicte Eyskens; M Dumoulin; Marc Gewillig; Jean-Pierre Fryns
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
Journal of medical genetics 1997;34(6):453-8.
1997: Joris R Vermeesch; Patrice X. PETIT; Frank Speleman; koenraad devriendt; Jean-Pierre Fryns; Peter Marynen
Interstitial telomeric sequences at the junction site of a jumping translocation.
Human genetics 1997;99(6):735-7.
1997: koenraad devriendt; Philippe Moerman; Dominique Van Schoubroeck; K Vandenberghe; Jean-Pierre Fryns
Chromosome 22q11 deletion presenting as the Potter sequence.
Journal of medical genetics 1997;34(5):423-5.
1997: koenraad devriendt; Patrice X. PETIT; Gert Matthijs; Joris R Vermeesch; Maureen Holvoet; A De Muelenaere; Peter Marynen; Jean-Jacques Cassiman; Jean-Pierre Fryns
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.
Journal of medical genetics 1997;34(5):395-9.
1997: Jean-Pierre Fryns; Christel Stinckens; Louw Feenstra
Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome.
Clinical genetics 1997;51(4):271-4.
1997: koenraad devriendt; R Van Hoestenberghe; C Van Hole; Hugo Devlieger; Marc Gewillig; Philippe Moerman; H Van den Berghe; Jean-Pierre Fryns
Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.
Clinical genetics 1997;51(4):246-9.
1997: koenraad devriendt; Gert Matthijs; S Claes; Eric Legius; Willem Proesmans; Jean-Jacques Cassiman; Jean-Pierre Fryns
Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.
Journal of medical genetics 1997;34(4):318-22.
1997: Anne De Paepe; Lieve Nuytinck; M Raes; Jean-Pierre Fryns
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.
Human genetics 1997;99(4):478-83.
1997: Jean-Pierre Fryns; H Verresen; H Van den Berghe
Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome.
Clinical genetics 1997;51(3):164-6.
1997: koenraad devriendt; Gert Matthijs; Eric Legius; Els Schollen; Daniel Blockmans; Chris Van Geet; H Degreef; Jean-Jacques Cassiman; Jean-Pierre Fryns
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
American journal of human genetics 1997;60(3):581-7.
1997: Christel Stinckens; Robbert J H Ensink; L Feenstra; Jean-Pierre Fryns; Cor W R J Cremers
Non-syndromic dominant sensorineural hearing loss: from a few phenotypes to many genotypes.
International journal of pediatric otorhinolaryngology 1997;38(3):237-45.
1997: koenraad devriendt; Luc De Smet; K De Boeck; Jean-Pierre Fryns
DiGeorge syndrome and unilateral symbrachydactyly.
Genetic counseling (Geneva, Switzerland) 1997;8(4):345-7.
1997: Patrice X. PETIT; Jean-Pierre Fryns
Interstitial deletion 2p accompanied by marker chromosome formation of the deleted segment resulting in a stable acentric marker chromosome.
Genetic counseling (Geneva, Switzerland) 1997;8(4):341-3.
1997: Annick Vogels; J Haegeman; Jean-Pierre Fryns
Pierre-Robin sequence and severe mental retardation with chaotic behaviour associated with a small interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333)).
Genetic counseling (Geneva, Switzerland) 1997;8(3):249-52.
1997: D Soekarman; P Volcke; Jean-Pierre Fryns
On the nosology of the craniodigital syndromes: report of a family and review of the literature.
Genetic counseling (Geneva, Switzerland) 1997;8(3):217-22.
1997: Griet Van Buggenhout; Philippe Moerman; Jean-Pierre Fryns
Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31).
Genetic counseling (Geneva, Switzerland) 1997;8(1):19-24.