Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

Jean-Pierre Fryns

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Procedures

Physiology

Concepts & Ideas

Living Beings

Anatomy

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
Witters Ingrid; Fryns Jean-Pierre; De Catte Luc; Moerman Philippe
Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence.
Vanneste Evelyne; Voet Thierry; Melotte Cindy; Debrock Sophie; Sermon Karen; Staessen Catherine; Liebaers Inge; Fryns Jean-Pierre; D'Hooghe Thomas; Vermeesch Joris R
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate.
Van Buggenhout Griet; Fryns Jean-Pierre
Angelman syndrome (AS, MIM 105830).

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of Jean-Pierre Fryns (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2009: Witters Ingrid; Fryns Jean-Pierre; De Catte Luc; Moerman Philippe
Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequence.
Prenatal diagnosis 2009;29(11):1081-4.
2009: Vanneste Evelyne; Voet Thierry; Melotte Cindy; Debrock Sophie; Sermon Karen; Staessen Catherine; Liebaers Inge; Fryns Jean-Pierre; D'Hooghe Thomas; Vermeesch Joris R
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: Van Buggenhout Griet; Fryns Jean-Pierre
Angelman syndrome (AS, MIM 105830).
European journal of human genetics : EJHG 2009;17(11):1367-73.
2009: Breckpot Jeroen; Thienpont Bernard; Vanhole Christine; Van Rossem Els; Van Schoubroeck Dominique; Fryns Jean-Pierre; Lagae Lieven; Buyse Gunnar; Devriendt Koen
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: Robberecht Caroline; Schuddinck Vicky; Fryns Jean-Pierre; Vermeesch Joris Robert
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: Balikova I; Lehesjoki A-E; de Ravel T J L; Thienpont B; Chandler K E; Clayton-Smith J; Träskelin A-L; Fryns J-P; Vermeesch J R
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
Human mutation 2009;30(9):E845-54.
2009: Zivná Martina; Hulková Helena; Matignon Marie; Hodanová Katerina; Vylet'al Petr; Kalbácová Marie; Baresová Veronika; Sikora Jakub; Blazková Hana; Zivný Jan; Ivánek Robert; Stránecký Viktor; Sovová Jana; Claes Kathleen; Lerut Evelyne; Fryns Jean-Pierre; Hart P Suzanne; Hart Thomas C; Adams Jeremy N; Pawtowski Audrey; Clemessy Maud; Gasc Jean-Marie; Gübler Marie-Claire; Antignac Corinne; Elleder Milan; Kapp Katja; Grimbert Philippe; Bleyer Anthony J; Kmoch Stanislav
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: Witters Ingrid; Chabchoub Elyes; Vermeesch Joris R; Fryns Jean-Pierre
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: Balikova Irina; Vermeesch Joris Robert; Fryns Jean-Pierre; Van Esch Hilde
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: de Ravel Thomy; Balikova Irina; Van Driessche Jozef; Vermeesch Joris; Fryns Jean-Pierre
"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: Vanneste E; Melotte C; Debrock S; D'Hooghe T; Brems H; Fryns J P; Legius E; Vermeesch J R
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: Vanneste Evelyne; Voet Thierry; Le Caignec Cédric; Ampe Michèle; Konings Peter; Melotte Cindy; Debrock Sophie; Amyere Mustapha; Vikkula Miikka; Schuit Frans; Fryns Jean-Pierre; Verbeke Geert; D'Hooghe Thomas; Moreau Yves; Vermeesch Joris R
Chromosome instability is common in human cleavage-stage embryos.
Nature medicine 2009;15(5):577-83.
2009: Kirchhoff Maria; Bisgaard Anne-Marie; Stoeva Radka; Dimitrov Boyan; Gillessen-Kaesbach Gabriele; Fryns Jean-Pierre; Rose Hanne; Grozdanova Liliana; Ivanov Ivan; Keymolen Kathelijn; Fagerberg Christina; Tranebjaerg Lisbeth; Skovby Flemming; Stefanova Margarita
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: Hannes F D; Sharp A J; Mefford H C; de Ravel T; Ruivenkamp C A; Breuning M H; Fryns J-P; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam R C; Cooper G M; Regan R; Knight S J L; Eichler E E; Vermeesch J R
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: Van Esch Hilde; Backx Liesbeth; Pijkels Elly; Fryns Jean-Pierre
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.
European journal of medical genetics 2009;52(2-3):153-6.
2009: Denayer Ellen; Brems Hilde; de Cock Paul; Evans Gareth D; Van Calenbergh Frank; Bowers Naomi; Sciot Raf; Debiec-Rychter Maria; Vermeesch Joris V; Fryns Jean-Pierre; Legius Eric
Pathogenesis of vestibular schwannoma in ring chromosome 22.
BMC medical genetics 2009;10():97.
2008: Witters Ingrid; Fryns Jean-Pierre
Follow-up of a child with trisomy 17 mosaicism.
Prenatal diagnosis 2008;28(11):1080.
2008: Stoeva Radka E; Grozdanova Liliana I; Vermeesch Joris R; Kirchhoff Maria; Fryns Jean-Pierre; Ivanov Ivan S; Patcheva Iliana H; Dimitrov Boyan I; Krastev Tsanyu B; Linev Alexander J; Stefanova Margarita T
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: Bailleul-Forestier Isabelle; Berdal Ariane; Vinckier Frans; de Ravel Thomy; Fryns Jean Pierre; Verloes Alain
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: Frints Suzanna Gerarda Maria; Lenzner Steffen; Bauters Mareike; Jensen Lars Riff; Van Esch Hilde; des Portes Vincent; Moog Ute; Macville Merryn Victor Erik; van Roozendaal Kees; Schrander-Stumpel Constance Theresia Rimbertha Maria; Tzschach Andreas; Marynen Peter; Fryns Jean-Pierre; Hamel Ben; van Bokhoven Hans; Chelly Jamel; Beldjord Chérif; Turner Gillian; Gecz Jozef; Moraine Claude; Raynaud Martine; Ropers Hans Hilger; Froyen Guy; Kuss Andreas Walter
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: Vermeiren Annelies; Zarowski Andrzej; Fryns Jean-Pierre; Vanpoucke Filiep; Somers Thomas; Offeciers Erwin
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome.
Acta oto-laryngologica 2008;128(7):814-20.
2008: Utine Eda G; Alanay Yasemin; Aktas Dilek; Alikasifoglu Mehmet; Boduroglu Koray; Vermeesch Joris; Tuncbilek Ergul; Fryns Jean-Pierre
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: Witters Ingrid; Fryns Jean-Pierre
Trisomy 18 presenting with severe limb deformations.
Prenatal diagnosis 2008;28(6):549-50.
2008: Bauters Marijke; Van Esch Hilde; Friez Michael J; Boespflug-Tanguy Odile; Zenker Martin; Vianna-Morgante Angela M; Rosenberg Carla; Ignatius Jaakko; Raynaud Martine; Hollanders Karen; Govaerts Karen; Vandenreijt Kris; Niel Florence; Blanc Pierre; Stevenson Roger E; Fryns Jean-Pierre; Marynen Peter; Schwartz Charles E; Froyen Guy
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
Genome research 2008;18(6):847-58.
2008: Hindryckx An; De Catte Luc; Van Esch Hilde; Fryns Jean-Pierre; Moerman Philippe; Devlieger Roland
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: Hagleitner M M; Lankester A; Maraschio P; Hultén M; Fryns J P; Schuetz C; Gimelli G; Davies E G; Gennery A; Belohradsky B H; de Groot R; Gerritsen E J A; Mattina T; Howard P J; Fasth A; Reisli I; Furthner D; Slatter M A; Cant A J; Cazzola G; van Dijken P J; van Deuren M; de Greef J C; van der Maarel S M; Weemaes C M R
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Journal of medical genetics 2008;45(2):93-9.
2008: Maas N M C; Van Buggenhout G; Hannes F; Thienpont B; Sanlaville D; Kok K; Midro A; Andrieux J; Anderlid B-M; Schoumans J; Hordijk R; Devriendt K; Fryns J-P; Vermeesch J R
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: Balikova Irina; Martens Kevin; Melotte Cindy; Amyere Mustapha; Van Vooren Steven; Moreau Yves; Vetrie David; Fiegler Heike; Carter Nigel P; Liehr Thomas; Vikkula Miikka; Matthijs Gert; Fryns Jean-Pierre; Casteels Ingele; Devriendt Koen; Vermeesch Joris Robert
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: Bailleul-Forestier Isabelle; Verhaeghe Veroniek; Fryns Jean-Pierre; Vinckier Frans; Declerck Dominique; Vogels Annick
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: Witters I; Denayer E; Brems H; Fryns J P; Legius E
The cardiofaciocutaneous syndrome: prenatal findings in two patients.
Prenatal diagnosis 2008;28(1):53-5.
2008: De Smet L; Fryns J P
Unilateral radio-ulnar synostosis and idic-Y chromosome.
Genetic counseling (Geneva, Switzerland) 2008;19(4):425-7.
2008: Peeters H; Vermeesch J; Fryns J P
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: Witters I; Moerman Ph; Fryns J P
Skeletal dysplasias: 38 prenatal cases.
Genetic counseling (Geneva, Switzerland) 2008;19(3):267-75.
2008: Witters I; Fryns J P
Prenatal diagnosis of trisomy 21: registration results from a single genetic center.
Genetic counseling (Geneva, Switzerland) 2008;19(2):157-63.
2008: De Smedt B; Swillen A; Devriendt K; Fryns J P; Verschaffel L; Boets B; Ghesquière P
Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2008;19(1):71-94.
2008: Peeters K; Willekens D; Steyaert J; Fryns J P
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics.
Genetic counseling (Geneva, Switzerland) 2008;19(1):1-14.
2007: Poirier Karine; Keays David A; Francis Fiona; Saillour Yoann; Bahi Nadia; Manouvrier Sylvie; Fallet-Bianco Catherine; Pasquier Laurent; Toutain Annick; Tuy Françoise Phan Dinh; Bienvenu Thierry; Joriot Sylvie; Odent Sylvie; Ville Dorothée; Desguerre Isabelle; Goldenberg Alice; Moutard Marie-Laure; Fryns Jean-Pierre; van Esch Hilde; Harvey Robert J; Siebold Christian; Flint Jonathan; Beldjord Chérif; Chelly Jamel
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: Thienpont Bernard; Mertens Luc; de Ravel Thomy; Eyskens Benedicte; Boshoff Derize; Maas Nicole; Fryns Jean-Pierre; Gewillig Marc; Vermeesch Joris R; Devriendt Koen
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: Vanhaesebrouck Sophie; Van Laere David; Fryns Jean-Pierre; Theyskens Claire
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: Thienpont Bernard; de Ravel Thomy; Van Esch Hilde; Van Schoubroeck Dominique; Moerman Philippe; Vermeesch Joris Robert; Fryns Jean-Pierre; Froyen Guy; Lacoste Caroline; Badens Catherine; Devriendt Koen
Partial duplications of the ATRX gene cause the ATR-X syndrome.
European journal of human genetics : EJHG 2007;15(10):1094-7.
2007: Froyen Guy; Van Esch Hilde; Bauters Marijke; Hollanders Karen; Frints Suzanna G M; Vermeesch Joris R; Devriendt Koen; Fryns Jean-Pierre; Marynen Peter
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: Balikova Irina; Menten Björn; de Ravel Thomy; Le Caignec Cédric; Thienpont Bernard; Urbina Montse; Doco-Fenzy Martine; de Rademaeker Marjan; Mortier Geert; Kooy Frank; van den Ende Janneke; Devriendt Koen; Fryns Jean-Pierre; Speleman Frank; Vermeesch Joris Robert
Subtelomeric imbalances in phenotypically normal individuals.
Human mutation 2007;28(10):958-67.
2007: De Smedt B; Devriendt K; Fryns J-P; Vogels A; Gewillig M; Swillen A
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: Brems Hilde; Chmara Magdalena; Sahbatou Mourad; Denayer Ellen; Taniguchi Koji; Kato Reiko; Somers Riet; Messiaen Ludwine; De Schepper Sofie; Fryns Jean-Pierre; Cools Jan; Marynen Peter; Thomas Gilles; Yoshimura Akihiko; Legius Eric
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Nature genetics 2007;39(9):1120-6.
2007: Witters I; Debois P; Fryns J P; Devriendt K; Gewillig M
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: Maas Nicole M C; Van de Putte Tom; Melotte Cindy; Francis Annick; Schrander-Stumpel Constance T R M; Sanlaville Damien; Genevieve David; Lyonnet Stanislas; Dimitrov Boyan; Devriendt Koenraad; Fryns Jean-Pierre; Vermeesch Joris R
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Journal of medical genetics 2007;44(9):562-9.
2007: Debeer Philippe; Devriendt Koen; De Smet Luc; Deravel Thomy; Gonzalez-Meneses Antonio; Grzeschik Karl-Heinz; Fryns Jean-Pierre
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.
Journal of children's orthopaedics 2007;1(2):143-50.
2007: Witters Ingrid; Cannie Mieke; Fryns Jean-Pierre
Prenatal diagnosis of trisomy 17 mosaicism.
Prenatal diagnosis 2007;27(7):677-8.
2007: de Ravel Thomy J L; Devriendt Koen; Fryns Jean-Pierre; Vermeesch Joris R
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).
European journal of pediatrics 2007;166(7):637-43.
2007: Froyen Guy; Bauters Marijke; Boyle Jackie; Van Esch Hilde; Govaerts Karen; van Bokhoven Hans; Ropers Hans-Hilger; Moraine Claude; Chelly Jamel; Fryns Jean-Pierre; Marynen Peter; Gecz Jozef; Turner Gillian
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: Castermans Dries; Vermeesch Joris R; Fryns Jean-Pierre; Steyaert Jean G; Van de Ven Wim J M; Creemers John W M; Devriendt Koen
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: Decruyenaere Marleen; Evers-Kiebooms Gerry; Boogaerts Andrea; Philippe Kristien; Demyttenaere Koen; Dom René; Vandenberghe Wim; Fryns Jean-Pierre
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: Chabchoub Elyes; Rodríguez Laura; Galán Enrique; Mansilla Elena; Martínez-Fernandez Maria Luisa; Martínez-Frías Maria Luisa; Fryns Jean-Pierre; Vermeesch Joris Robert
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: Van Aken Katrijn; De Smedt Bert; Van Roie Annelies; Gewillig Marc; Devriendt Koen; Fryns Jean-Pierre; Simons Johan; Swillen Ann
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).
Developmental medicine and child neurology 2007;49(3):210-3.
2007: Chen Wei; Jensen Lars R; Gecz Jozef; Fryns Jean-Pierre; Moraine Claude; de Brouwer Arjan; Chelly Jamel; Moser Bettina; Ropers H Hilger; Kuss Andreas W
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: De Smedt B; Swillen A; Devriendt K; Fryns J P; Verschaffel L; Ghesquière P
Mathematical disabilities in children with velo-cardio-facial syndrome.
Neuropsychologia 2007;45(5):885-95.
2007: Van Esch Hilde; Jansen Anna; Bauters Marijke; Froyen Guy; Fryns Jean-Pierre
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: Botzenhart Elke M; Bartalini Gabriella; Blair Edward; Brady Angela F; Elmslie Frances; Chong Karen L; Christy Katie; Torres-Martinez Wilfredo; Danesino Cesare; Deardorff Matthew A; Fryns Jean-Pierre; Marlin Sandrine; Garcia-Minaur Sixto; Hellenbroich Yorck; Hay Beverly N; Penttinen Maila; Shashi Vandana; Terhal Paulien; Van Maldergem Lionel; Whiteford Margo L; Zackai Elaine; Kohlhase Jürgen
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: Bicknell Louise S; Farrington-Rock Claire; Shafeghati Yousef; Rump Patrick; Alanay Yasemin; Alembik Yves; Al-Madani Navid; Firth Helen; Karimi-Nejad Mohammad Hassan; Kim Chong Ae; Leask Kathryn; Maisenbacher Melissa; Moran Ellen; Pappas John G; Prontera Paolo; de Ravel Thomy; Fryns Jean-Pierre; Sweeney Elizabeth; Fryer Alan; Unger Sheila; Wilson L C; Lachman Ralph S; Rimoin David L; Cohn Daniel H; Krakow Deborah; Robertson Stephen P
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Journal of medical genetics 2007;44(2):89-98.
2007: Jensen Lars Riff; Lenzner Steffen; Moser Bettina; Freude Kristine; Tzschach Andreas; Wei Chen; Fryns Jean-Pierre; Chelly Jamel; Turner Gillian; Moraine Claude; Hamel Ben; Ropers Hans-Hilger; Kuss Andreas Walter
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.
2007: Maas N M C; Van Vooren S; Hannes F; Van Buggenhout G; Mysliwiec M; Moreau Y; Fagan K; Midro A; Engiz O; Balci S; Parker M J; Sznajer Y; Devriendt K; Fryns J P; Vermeesch J R
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.
2006: Derom Catherine A; Vlietinck Robert F; Thiery Evert W; Leroy Fernand O G; Fryns Jean-Pierre; Derom Robert M
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: Chabchoub E; de Ravel T; Thoelen R; Vermeesch J R; Fryns J-P; Van Esch H
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: Peeters Hilde; Voz Marianne L; Verschueren Kristin; De Cat Bart; Pendeville Hélène; Thienpont Bernard; Schellens Ann; Belmont John W; David Guido; Van De Ven Wim J M; Fryns Jean-Pierre; Gewillig Marc; Huylebroeck Danny; Peers Bernard; Devriendt Koen
Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling.
Human molecular genetics 2006;15(22):3369-77.
2006: Vylet'al P; Kublová M; Kalbácová M; Hodanová K; Baresová V; Stiburková B; Sikora J; Hulková H; Zivný J; Majewski J; Simmonds A; Fryns J-P; Venkat-Raman G; Elleder M; Kmoch S
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
Kidney international 2006;70(6):1155-69.
2006: Kleefstra Tjitske; Brunner Han G; Amiel Jeanne; Oudakker Astrid R; Nillesen Willy M; Magee Alex; Geneviève David; Cormier-Daire Valérie; van Esch Hilde; Fryns Jean-Pierre; Hamel Ben C J; Sistermans Erik A; de Vries Bert B A; van Bokhoven Hans
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: Menten B; Maas N; Thienpont B; Buysse K; Vandesompele J; Melotte C; de Ravel T; Van Vooren S; Balikova I; Backx L; Janssens S; De Paepe A; De Moor B; Moreau Y; Marynen P; Fryns J-P; Mortier G; Devriendt K; Speleman F; Vermeesch J R
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: Delnatte Capucine; Sanlaville Damien; Mougenot Jean-Francois; Vermeesch Joris-Robert; Houdayer Claude; Blois Marie-Christine de; Genevieve David; Goulet Olivier; Fryns Jean-Pierre; Jaubert Francis; Vekemans Michel; Lyonnet Stanislas; Romana Serge; Eng Charis; Stoppa-Lyonnet Dominique
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: Descheemaeker Mie-Jef; Govers Veerle; Vermeulen Peter; Fryns Jean-Pierre
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: Agarwal Anil K; Zhou Xin J; Hall Roger K; Nicholls Kathy; Bankier Agnes; Van Esch Hilde; Fryns Jean-Pierre; Garg Abhimanyu
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: Tzschach Andreas; Lenzner Steffen; Moser Bettina; Reinhardt Richard; Chelly Jamel; Fryns Jean-Pierre; Kleefstra Tjitske; Raynaud Martine; Turner Gillian; Ropers Hans-Hilger; Kuss Andreas; Jensen Lars Riff
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
Human mutation 2006;27(4):389.
2006: Lugtenberg D; de Brouwer A P M; Kleefstra T; Oudakker A R; Frints S G M; Schrander-Stumpel C T R M; Fryns J P; Jensen L R; Chelly J; Moraine C; Turner G; Veltman J A; Hamel B C J; de Vries B B A; van Bokhoven H; Yntema H G
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: Jakobsen Linda P; Knudsen Mary A; Lespinasse James; García Ayuso Carmen; Ramos Carmen; Fryns Jean-Pierre; Bugge Merete; Tommerup Niels
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: Derom Catherine; Leroy Fernand; Vlietinck Robert; Fryns Jean-Pierre; Derom Robert
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: Poirier K; Lacombe D; Gilbert-Dussardier B; Raynaud M; Desportes V; de Brouwer A P M; Moraine C; Fryns J P; Ropers H H; Beldjord C; Chelly J; Bienvenu T
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Neurogenetics 2006;7(1):39-46.
2006: Deprest Jan; Jani Jacques; Van Schoubroeck Dominique; Cannie Mieke; Gallot Dennis; Dymarkowski Steven; Fryns Jean-Pierre; Naulaers Gunnar; Gratacos Eduardo; Nicolaides Kypros
Current consequences of prenatal diagnosis of congenital diaphragmatic hernia.
Journal of pediatric surgery 2006;41(2):423-30.
2006: Lewi Liesbeth; Blickstein Isaac; Van Schoubroeck Dominique; Gloning Karl-Philipp; Casteels Martine; Brandenburg Helen; Fryns Jean-Pierre; Deprest Jan
Diagnosis and management of heterokaryotypic monochorionic twins.
American journal of medical genetics. Part A 2006;140(3):272-5.
2006: Lugtenberg Dorien; Yntema Helger G; Banning Martijn J G; Oudakker Astrid R; Firth Helen V; Willatt Lionel; Raynaud Martine; Kleefstra Tjitske; Fryns Jean-Pierre; Ropers Hans-Hilger; Chelly Jamel; Moraine Claude; Gecz Jozef; van Reeuwijk Jeroen; Nabuurs Sander B; de Vries Bert B A; Hamel Ben C J; de Brouwer Arjan P M; van Bokhoven Hans
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: Van Esch Hilde; Agarwal Anil K; Debeer Philippe; Fryns Jean-Pierre; Garg Abhimanyu
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: Borry Pascal; Fryns Jean-Pierre; Schotsmans Paul; Dierickx Kris
Carrier testing in minors: a systematic review of guidelines and position papers.
European journal of human genetics : EJHG 2006;14(2):133-8.
2006: Hagens Olivier; Dubos Aline; Abidi Fatima; Barbi Gotthold; Van Zutven Laura; Hoeltzenbein Maria; Tommerup Niels; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; van Bokhoven Hans; Gécz Jozef; Dollfus Hélène; Ropers Hans-Hilger; Schwartz Charles E; de Cassia Stocco Dos Santos Rita; Kalscheuer Vera; Hanauer André
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Human genetics 2006;118(5):578-90.
2006: Maas N; Thienpont B; Vermeesch J R; Fryns J P
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: de Ravel T J L; Balikova I; Thienpont B; Hannes F; Maas N; Fryns J-P; Devriendt K; Vermeesch J R
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: De Smedt B; Swillen A; Devriendt K; Fryns J P; Verschaffel L; Ghesquiere P
Mathematical disabilities in young primary school children with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2006;17(3):259-80.
2006: Thienpont B; Gewillig M; Fryns J-P; Devriendt K; Vermeesch J
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: Van Buggenhout Griet; Fryns Jean-Pierre
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
Orphanet journal of rare diseases 2006;1():26.
2006: Vogels Annick; Fryns Jean-Pierre
Pfeiffer syndrome.
Orphanet journal of rare diseases 2006;1():19.
2006: Le Caignec Cedric; Spits Claudia; Sermon Karen; De Rycke Martine; Thienpont Bernard; Debrock Sophie; Staessen Catherine; Moreau Yves; Fryns Jean-Pierre; Van Steirteghem Andre; Liebaers Inge; Vermeesch Joris R
Single-cell chromosomal imbalances detection by array CGH.
Nucleic acids research 2006;34(9):e68.
2005: Swillen Ann; Feys Hilde; Adriaens Tamara; Nelissen Loes; Mertens Luc; Gewillig Marc; Devriendt Koen; Fryns Jean-Pierre
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: Debeer Ph; Van Esch H; Huysmans C; Pijkels E; De Smet L; Van de Ven W; Devriendt K; Fryns J-P
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
European journal of medical genetics 2005;48(4):377-87.
2005: Laumonnier F; Holbert S; Ronce N; Faravelli F; Lenzner S; Schwartz C E; Lespinasse J; Van Esch H; Lacombe D; Goizet C; Phan-Dinh Tuy F; van Bokhoven H; Fryns J-P; Chelly J; Ropers H-H; Moraine C; Hamel B C J; Briault S
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: Hodanová Katerina; Majewski Jacek; Kublová Martina; Vyletal Petr; Kalbácová Marie; Stiburková Blanka; Hulková Helena; Chagnon Yvon C; Lanouette Christian-Marc; Marinaki Anthony; Fryns Jean-Pierre; Venkat-Raman Gopalakrishnan; Kmoch Stanislav
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
Kidney international 2005;68(4):1472-82.
2005: Maas Nicole M C; Vermeesch Joris R; Fryns Jean-Pierre
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: Van Esch Hilde; Bauters Marijke; Ignatius Jaakko; Jansen Mieke; Raynaud Martine; Hollanders Karen; Lugtenberg Dorien; Bienvenu Thierry; Jensen Lars Riff; Gecz Jozef; Moraine Claude; Marynen Peter; Fryns Jean-Pierre; Froyen Guy
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: Decruyenaere Marleen; Evers-Kiebooms Gerry; Boogaerts Andrea; Demyttenaere Koen; Dom René; Fryns Jean-Pierre
Partners of mutation-carriers for Huntington's disease: forgotten persons?
European journal of human genetics : EJHG 2005;13(9):1077-85.
2005: Beysen D; Raes J; Leroy B P; Lucassen A; Yates J R W; Clayton-Smith J; Ilyina H; Brooks S Sklower; Christin-Maitre S; Fellous M; Fryns J P; Kim J R; Lapunzina P; Lemyre E; Meire F; Messiaen L M; Oley C; Splitt M; Thomson J; Van de Peer Y; Veitia R A; De Paepe A; De Baere E
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: Thienpont Bernard; Vermeesch Joris R; Fryns Jean-Pierre
25 Mb deletion of 13q13.3-->q21.31 in a patient without retinoblastoma.
European journal of medical genetics 2005;48(3):363-6.
2005: de Ravel Thomy; Aerssens Peter; Vermeesch Joris R; Fryns Jean-Pierre
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: Le Caignec Cédric; Swillen Ann; Van Asche Elvire; Fryns Jean-Pierre; Vermeesch Joris R
Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
European journal of medical genetics 2005;48(3):339-45.
2005: Vermeesch Joris Robert; Melotte Cindy; Salden Ivo; Riegel Mariluce; Trifnov Vladimir; Polityko Anna; Rumyantseva Natalia; Naumchik Irina; Starke Heike; Matthijs Gert; Schinzel Albert; Fryns Jean-Pierre; Liehr Thomas
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
European journal of medical genetics 2005;48(3):319-27.
2005: Van Buggenhout G; Van Ravenswaaij-Arts C; Mc Maas N; Thoelen R; Vogels A; Smeets Dominique; Salden I; Matthijs G; Fryns J-P; Vermeesch J R
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: Van Esch Hilde; Hollanders Karen; Badisco Liesbeth; Melotte Cindy; Van Hummelen Paul; Vermeesch Joris Robert; Devriendt Koen; Fryns Jean-Pierre; Marynen Peter; Froyen Guy
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: Van Esch Hilde; Matthijs Gert; Fryns Jean-Pierre
Should we screen for FMR1 premutations in female subjects presenting with ataxia?
Annals of neurology 2005;57(6):932-3.
2005: Dimitrov Boyan; Balikova Irina; Jekova Nely; Vakrilova Lilija; Fryns Jean-Pierre; Simeonov Emil
Acrofacial dysostosis type Rodríguez.
American journal of medical genetics. Part A 2005;135(1):81-5.
2005: Poirier Karine; Francis Fiona; Hamel Ben; Moraine Claude; Fryns Jean Pierre; Ropers Hans H; Chelly Jamel; Bienvenu Thierry
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: de Ravel Thomy J L; Thiry Paul; Fryns Jean-Pierre
Follow-up of adult males with chromosome 18p deletion.
European journal of medical genetics 2005;48(2):189-93.
2005: Van Esch Hilde; Zanni Ginevra; Holvoet Maureen; Borghgraef Martine; Chelly Jamel; Fryns Jean-Pierre; Devriendt Koenraad
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: Kleefstra T; Smidt M; Banning M J G; Oudakker A R; Van Esch H; de Brouwer A P M; Nillesen W; Sistermans E A; Hamel B C J; de Bruijn D; Fryns J-P; Yntema H G; Brunner H G; de Vries B B A; van Bokhoven H
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: Debeer Philippe; Huysmans Christel; Van de Ven Wim J M; Fryns Jean-Pierre; Devriendt Koen
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: de Ravel Thomy J L; Taylor Indira B; Van Oostveldt Alex J T; Fryns Jean-Pierre; Wilkie Andrew O M
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: Vermeesch Joris R; Melotte Cindy; Froyen Guy; Van Vooren Steven; Dutta Binita; Maas Nicole; Vermeulen Stefan; Menten Björn; Speleman Frank; De Moor Bart; Van Hummelen Paul; Marynen Peter; Fryns Jean-Pierre; Devriendt Koen
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: Michils Geneviève; Tejpar Sabine; Thoelen Reinhilde; van Cutsem Eric; Vermeesch Joris Robert; Fryns Jean-Pierre; Legius Eric; Matthijs Gert
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: Jensen Lars Riff; Amende Marion; Gurok Ulf; Moser Bettina; Gimmel Verena; Tzschach Andreas; Janecke Andreas R; Tariverdian Gholamali; Chelly Jamel; Fryns Jean-Pierre; Van Esch Hilde; Kleefstra Tjitske; Hamel Ben; Moraine Claude; Gecz Jozef; Turner Gillian; Reinhardt Richard; Kalscheuer Vera M; Ropers Hans-Hilger; Lenzner Steffen
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: Derom Robert; Derom Catherine; Loos Ruth J F; Thiery Evert; Vlietinck Robert; Fryns Jean-Pierre
Gender mix: does it modify birthweight--outcome association?
Paediatric and perinatal epidemiology 2005;19 Suppl 1():37-40.
2005: Descheemaeker M-J; Ghesquière P; Symons H; Fryns J P; Legius E
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: Mathijssen Inge B; Fryns Jean-Pierre; Devriendt Koen; Sznajer Yves; Van Eygen Maurice
Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome.
American journal of medical genetics. Part A 2005;132A(3):338-9.
2005: Smeets E; Terhal P; Casaer P; Peters A; Midro A; Schollen E; van Roozendaal K; Moog U; Matthijs G; Herbergs J; Smeets H; Curfs L; Schrander-Stumpel C; Fryns J P
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: Van Esch Hilde; Dom Rene; Bex Dorien; Salden Ivo; Caeckebeke Jo; Wibail Alain; Borghgraef Martine; Legius Eric; Fryns Jean-Pierre; Matthijs Gert
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.
European journal of human genetics : EJHG 2005;13(1):121-3.
2005: Utine G E; Melotte C; Vermeesch J R; Fryns J P
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: Borry P; Fryns J P; Schotsmans P; Dierickx K
Attitudes towards carrier testing in minors: a systematic review.
Genetic counseling (Geneva, Switzerland) 2005;16(4):341-52.
2005: Utine G E; Thoelen R; Peeters H; Vermeesch J; Fryns J P
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: Meeus G; Steyaert J; Fryns J P
A follow-up study on 12 prenatally diagnosed boys with Klinefelter syndrome.
Genetic counseling (Geneva, Switzerland) 2005;16(3):249-56.
2005: Dimitrov B; Balikova I; Bradinova I; Zahariev D; Popova A; Simeonov E; De Smet L; Devriendt K; Fryns J P
The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
Genetic counseling (Geneva, Switzerland) 2005;16(2):181-6.
2005: Lukusa T; Smeets E; Vogels A; Vermeesch J R; Fryns J P
Terminal 2q37 deletion and autistic behaviour.
Genetic counseling (Geneva, Switzerland) 2005;16(2):179-80.
2005: Van Esch H; Aerssens P; Fryns J P
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: Lukusa T; Vermeesch J R; Fryns J P
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.
2004: de Ravel Thomy J L; Keymolen Kathelijn; van Assche Elvire; Wittevronghel Ingrid; Moerman Philippe; Salden Ivo; Matthijs Gert; Fryns Jean-Pierre; Vermeesch Joris R
Post-zygotic origin of isochromosome 12p.
Prenatal diagnosis 2004;24(12):984-8.
2004: Witters I; Deprest J; Van Hole C; Hanssens M; Devlieger H; Fryns J P
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: Van Buggenhout Griet; Maas Nicole M C; Fryns Jean-Pierre; Vermeesch Joris R
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: Tao Jiong; Van Esch Hilde; Hagedorn-Greiwe M; Hoffmann Kirsten; Moser Bettina; Raynaud Martine; Sperner Jürgen; Fryns Jean-Pierre; Schwinger Eberhard; Gécz Jozef; Ropers Hans-Hilger; Kalscheuer Vera M
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: Descheemaeker M J; Roelandts K; De Raedt T; Brems H; Fryns J P; Legius E
Intelligence in individuals with a neurofibromatosis type 1 microdeletion.
American journal of medical genetics. Part A 2004;131(3):325-6.
2004: Melotte C; Debrock S; D'Hooghe T; Fryns J P; Vermeesch J R
Preimplantation genetic diagnosis for an insertional translocation carrier.
Human reproduction (Oxford, England) 2004;19(12):2777-83.
2004: Van Esch Hilde; Mariën Paul; De Smedt Maryse; Fryns Jean-Pierre
A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus.
Clinical dysmorphology 2004;13(4):261-3.
2004: Devriendt Koen; Fryns Jean-Pierre
Diagnostic evaluation for asymmetry: consider genetic mosaicism.
European journal of pediatrics 2004;163(10):634-5.
2004: Van Buggenhout G; Melotte C; Dutta B; Froyen G; Van Hummelen P; Marynen P; Matthijs G; de Ravel T; Devriendt K; Fryns J P; Vermeesch J R
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: Debeer P; Fryns J-P; Devriendt K; Baten E; Huysmans C; Van de Ven W J M
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: Freude Kristine; Hoffmann Kirsten; Jensen Lars-Riff; Delatycki Martin B; des Portes Vincent; Moser Bettina; Hamel Ben; van Bokhoven Hans; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; Gécz Jozef; Lenzner Steffen; Kalscheuer Vera M; Ropers Hans-Hilger
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: Vermeesch J R; Thoelen R; Fryns Jean Pierre
A familial complex chromosome translocation resulting in duplication of 6p25.
Annales de génétique 2004;47(3):275-80.
2004: Witters Ingrid; Moerman Philippe; Fryns Jean-Pierre
First-trimester scan in trisomy 14 mosaicism.
Prenatal diagnosis 2004;24(7):573-4.
2004: Witters Ingrid; Moerman Philippe; Mornet Etienne; Fryns Jean-Pierre
Positive maternal serum triple test screening in severe early onset hypophosphatasia.
Prenatal diagnosis 2004;24(7):494-7.
2004: Stinckens Christel; Kremer Hannie; van Wijk Erwin; Hoefsloot Lies H; Huygen Patrick L M; Standaert Lieve; Fryns Jean Pierre; Cremers Cor W R J
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: Rosenberg Efraim H; Almeida Ligia S; Kleefstra Tjitske; deGrauw Rose S; Yntema Helger G; Bahi Nadia; Moraine Claude; Ropers Hans-Hilger; Fryns Jean-Pierre; deGrauw Ton J; Jakobs Cornelis; Salomons Gajja S
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
American journal of human genetics 2004;75(1):97-105.
2004: Kolehmainen Juha; Wilkinson Robert; Lehesjoki Anna-Elina; Chandler Kate; Kivitie-Kallio Satu; Clayton-Smith Jill; Träskelin Ann-Liz; Waris Laura; Saarinen Anne; Khan Jabbar; Gross-Tsur Varda; Traboulsi Elias I; Warburg Mette; Fryns Jean-Pierre; Norio Reijo; Black Graeme C M; Manson Forbes D C
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
American journal of human genetics 2004;75(1):122-7.
2004: Devriendt Koen; Swillen Ann; Gewillig Marc; Fryns Jean-Pierre; Moens Pierre; De Smet Luc
Velocardiofacial syndrome presenting as distal arthrogryposis.
European journal of pediatrics 2004;163(6):329-30.
2004: Castermans Dries; Wilquet Valérie; Steyaert Jean; Van de Ven Wim; Fryns Jean-Pierre; Devriendt Koen
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: Vogels A; De Hert M; Descheemaeker M J; Govers V; Devriendt K; Legius E; Prinzie P; Fryns J P
Psychotic disorders in Prader-Willi syndrome.
American journal of medical genetics. Part A 2004;127A(3):238-43.
2004: Kleefstra T; Yntema H G; Oudakker A R; Banning M J G; Kalscheuer V M; Chelly J; Moraine C; Ropers H-H; Fryns J-P; Janssen I M; Sistermans E A; Nillesen W N; de Vries L B A; Hamel B C J; van Bokhoven H
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
Journal of medical genetics 2004;41(5):394-9.
2004: Laumonnier Frédéric; Bonnet-Brilhault Frédérique; Gomot Marie; Blanc Romuald; David Albert; Moizard Marie-Pierre; Raynaud Martine; Ronce Nathalie; Lemonnier Eric; Calvas Patrick; Laudier Béatrice; Chelly Jamel; Fryns Jean-Pierre; Ropers Hans-Hilger; Hamel Ben C J; Andres Christian; Barthélémy Catherine; Moraine Claude; Briault Sylvain
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: Vogels Annick; Van Den Ende Jenneke; Keymolen Kathelijne; Mortier Geert; Devriendt Koen; Legius E; Fryns J P
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: Debeer Ph; Vandenbossche L; de Ravel T J L; Desloovere C; De Smet L; Huysmans C; Thoelen R; Vermeesch J; Van de Ven W J M; Fryns J P
Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.
Clinical genetics 2004;65(2):153-5.
2004: Schrander-Stumpel Constance Th R M; Curfs Leopold M G; Sastrowijoto Prapto; Cassidy Suzanne B; Schrander Jaap J P; Fryns Jean-Pierre
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: Decruyenaere M; Evers-Kiebooms G; Cloostermans T; Boogaerts A; Demyttenaere K; Dom R; Fryns J P
Predictive testing for Huntington's disease: relationship with partners after testing.
Clinical genetics 2004;65(1):24-31.
2004: Van Borsel John; De Grande Sigrid; Van Buggenhout Griet; Fryns Jean-Pierre
Speech and language in Wolf-Hirschhorn syndrome: a case-study.
Journal of communication disorders 2004;37(1):21-33.
2004: de Ravel T J L; Fryns J P; Van Driessche J; Vermeesch J R
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: Orrico Alfredo; Galli Lucia; Cavaliere Maria Luigia; Garavelli Livia; Fryns Jean-Pierre; Crushell Ellen; Rinaldi Maria Michela; Medeira Ana; Sorrentino Vincenzo
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.
2004: Vogels A; Fryns J P
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: Lukusa T; Vermeesch J R; Holvoet M; Fryns J P; Devriendt K
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: Dimitrov B; Devriendt K; Maas N M C; Vermeesch J R; Zahariev D; Avdjieva D; Popova A; Fryns J P; Simeonov E
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: Prinzie P; Swillen A; Maes B; Onghena P; Vogels A; Van Hooste A; Devriendt K; Van Lieshout C F M; Fryns J P
Parenting, family contexts, and personality characteristics in youngsters with VCFS.
Genetic counseling (Geneva, Switzerland) 2004;15(2):141-57.
2004: Moog U; Engelen J J; Weber B W; Van Gelderen M; Steyaert J; Baas F; Sijstermans H M; Fryns J P
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: Debeer Ph; De Smet L; Fryns J P
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.
2003: Shoichet Sarah A; Hoffmann Kirsten; Menzel Corinna; Trautmann Udo; Moser Bettina; Hoeltzenbein Maria; Echenne Bernard; Partington Michael; Van Bokhoven Hans; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; Rott Hans-Dieter; Ropers Hans-Hilger; Kalscheuer Vera M
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: Bond Jacquelyn; Scott Sheila; Hampshire Daniel J; Springell Kelly; Corry Peter; Abramowicz Marc J; Mochida Ganesh H; Hennekam Raoul C M; Maher Eamonn R; Fryns Jean-Pierre; Alswaid Abdulrahman; Jafri Hussain; Rashid Yasmin; Mubaidin Ammar; Walsh Christopher A; Roberts Emma; Woods C Geoffrey
Protein-truncating mutations in ASPM cause variable reduction in brain size.
American journal of human genetics 2003;73(5):1170-7.
2003: Smeets E; Schollen E; Moog U; Matthijs G; Herbergs J; Smeets H; Curfs L; Schrander-Stumpel C; Fryns J P
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: Vermeesch J R; Thoelen R; Salden I; Raes M; Matthijs G; Fryns J-P
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: Agarwal Anil K; Fryns Jean-Pierre; Auchus Richard J; Garg Abhimanyu
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.
Human molecular genetics 2003;12(16):1995-2001.
2003: Moog Ute; Engelen John J M; Schrander-Stumpel Connie T R M; Fryns Jean-Pierre
Chromosome bands and ends revisited.
American journal of medical genetics. Part A 2003;121A(1):88-9.
2003: Schollen E; Smeets E; Deflem E; Fryns J P; Matthijs G
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: Vermeesch Joris R; Fryns Jean-Pierre
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: Frints Suzanna G M; Marynen Peter; Hartmann Dieter; Fryns Jean-Pierre; Steyaert Jean; Schachner Melitta; Rolf Bettina; Craessaerts Katleen; Snellinx An; Hollanders Karen; D'Hooge Rudi; De Deyn Peter P; Froyen Guy
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: Debeer Philippe; Peeters H; Driess S; De Smet L; Freese K; Matthijs G; Bornholdt D; Devriendt K; Grzeschik K-H; Fryns J-P; Kalff-Suske M
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: Ropers Hans-Hilger; Hoeltzenbein Maria; Kalscheuer Vera; Yntema Helger; Hamel Ben; Fryns Jean-Pierre; Chelly Jamel; Partington Michael; Gecz Jozef; Moraine Claude
Nonsyndromic X-linked mental retardation: where are the missing mutations?
Trends in genetics : TIG 2003;19(6):316-20.
2003: Simha Vinaya; Agarwal Anil K; Oral Elif Arioglu; Fryns Jean-Pierre; Garg Abhimanyu
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.
The Journal of clinical endocrinology and metabolism 2003;88(6):2821-4.
2003: Frints Suzanna G M; Jun Lin; Fryns Jean-Pierre; Devriendt Koen; Teulingkx Rudi; Van den Berghe Lut; De Vos Bernice; Borghgraef Martine; Chelly Jamel; Des Portes Vincent; Van Bokhoven Hans; Hamel Ben; Ropers Hans-Hilger; Kalscheuer Vera; Raynaud Martine; Moraine Claude; Marynen Peter; Froyen Guy
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: Debeer Philippe; Pykels E; Lammens J; Devriendt K; Fryns J-P
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: Irrthum Alexandre; Devriendt Koenraad; Chitayat David; Matthijs Gert; Glade Conrad; Steijlen Peter M; Fryns Jean-Pierre; Van Steensel Maurice A M; Vikkula Miikka
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: Veltman Joris A; Jonkers Yvonne; Nuijten Inge; Janssen Irene; van der Vliet Walter; Huys Erik; Vermeesch Joris; Van Buggenhout Griet; Fryns Jean-Pierre; Admiraal Ronald; Terhal Paulien; Lacombe Didier; van Kessel Ad Geurts; Smeets Dominique; Schoenmakers Eric F P M; van Ravenswaaij-Arts Conny M
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: Kolehmainen Juha; Black Graeme C M; Saarinen Anne; Chandler Kate; Clayton-Smith Jill; Träskelin Ann-Liz; Perveen Rahat; Kivitie-Kallio Satu; Norio Reijo; Warburg Mette; Fryns Jean-Pierre; de la Chapelle Albert; Lehesjoki Anna-Elina
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: Castermans D; Wilquet V; Parthoens E; Huysmans C; Steyaert J; Swinnen L; Fryns J-P; Van de Ven W; Devriendt K
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.
Journal of medical genetics 2003;40(5):352-6.
2003: Peeters H; Debeer P; Bairoch A; Wilquet V; Huysmans C; Parthoens E; Fryns J P; Gewillig M; Nakamura Y; Niikawa N; Van de Ven W; Devriendt K
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: Prinzie P; Descheemaeker M J; Vogels A; Cleymans T; Haselager G J T; Curfs L M G; Hellinckx W; Onghena P; Legius E; van Lieshout C F M; Fryns J-P
Personality profiles of children and adolescents with neurofibromatosis type 1.
American journal of medical genetics. Part A 2003;118A(1):1-7.
2003: Stiburková Blanka; Majewski Jacek; Hodanová Katerina; Ondrová Lenka; Jerábková Markéta; Zikánová Marie; Vylet'al Petr; Sebesta Ivan; Marinaki Anthony; Simmonds Anne; Matthijs Gert; Fryns Jean-Pierre; Torres Rosa; Puig Juan García; Ott Jurg; Kmoch Stanislav
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: Gebhardt Gabriel Stefan; Devriendt Koenraad; Thoelen Reinhilde; Swillen Ann; Pijkels Elly; Fryns Jean-Pierre; Vermeesch Joris R; Gewillig Marc
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: de Ravel T J L; Vermeesch J R; Fryns J-P
De novo interstitial tandem duplication of chromosome 20p12.1p13.
American journal of medical genetics. Part A 2003;117A(1):76-9.
2003: De Baere Elfride; Beysen Diane; Oley Christine; Lorenz Birgit; Cocquet Julie; De Sutter Paul; Devriendt Koen; Dixon Michael; Fellous Marc; Fryns Jean-Pierre; Garza Arturo; Jonsrud Christoffer; Koivisto Pasi A; Krause Amanda; Leroy Bart P; Meire Françoise; Plomp Astrid; Van Maldergem Lionel; De Paepe Anne; Veitia Reiner; Messiaen Ludwine
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: Schollen Els; Matthijs Gert; Gewillig Marc; Fryns Jean-Pierre; Legius Eric
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
European journal of human genetics : EJHG 2003;11(1):85-8.
2003: Decruyenaere Marleen; Evers-Kiebooms Gerry; Cloostermans Trees; Boogaerts Andrea; Demyttenaere Koen; Dom René; Fryns Jean Pierre
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: Longo I; Frints S G M; Fryns J-P; Meloni I; Pescucci C; Ariani F; Borghgraef M; Raynaud M; Marynen P; Schwartz C; Renieri A; Froyen G
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: Moog Ute; Engelen John J M; van Schrojenstein Lantman-de Valk Henny M J; Driessen Sandra D; Fryns Jean-Pierre
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: Steyaert Jean; Legius Eric; Borghgraef Martine; Fryns Jean-Pierre
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.
2003: Witters Ingrid; Van Damme Marie Therèse; Ramaekers Paul; Van Assche Frans André; Fryns Jean Pierre
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: Vermeesch J R; Duhamel H; Raeymaekers P; Van Zand K; Verhasselt P; Fryns J P; Marynen P
A physical map of the chromosome 12 centromere.
Cytogenetic and genome research 2003;103(1-2):63-73.
2003: Brems H; Vogels A; Ribai P; De Raedt T; Fryns J P; Legius E
Second polar body inclusion results in diploid/triploid mixoploidy.
Genetic counseling (Geneva, Switzerland) 2003;14(4):425-9.
2003: Geerts M; Steyaert J; Fryns J P
The XYY syndrome: a follow-up study on 38 boys.
Genetic counseling (Geneva, Switzerland) 2003;14(3):267-79.
2003: Witters I; Fryns J P
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: Lukusa T; Holvoet M; Vermeesch J R; Devriendt K; Fryns J P
Partial monosomy 11q and trisomy 12q: variable expression in two siblings.
Genetic counseling (Geneva, Switzerland) 2003;14(2):155-64.
2003: Vantrappen G; Rommel N; Swillen A; Cremers C W; Fryns J P; Devriendt K
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: Fryns J P; Gevers D
Goeminne syndrome (OMIM 314300): another male patient 30 years later.
Genetic counseling (Geneva, Switzerland) 2003;14(1):109-11.
2003: Debeer Ph; De Borre L; De Smet L; Fryns J P
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: De Smedt B; Swillen A; Ghesquière P; Devriendt K; Fryns J P
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.
2002: Frints S G M; Froyen G; Marynen P; Fryns J-P
X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms.
Clinical genetics 2002;62(6):423-32.
2002: Laumonnier Frédéric; Ronce Nathalie; Hamel Ben C J; Thomas Paul; Lespinasse James; Raynaud Martine; Paringaux Christine; Van Bokhoven Hans; Kalscheuer Vera; Fryns Jean-Pierre; Chelly Jamel; Moraine Claude; Briault Sylvain
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: Vermeesch J R; Baten E; Fryns J-P; Devriendt K
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.
Clinical genetics 2002;62(5):415-7.
2002: Debeer P; Mols R; Huysmans C; Devriendt K; Van de Ven W J M; Fryns J-P
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: Vermeesch J R; Syrrou M; Salden I; Dhondt F; Matthijs G; Fryns J-P
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: Witters Ingrid; Moerman Philippe; Fryns Jean-Pierre
Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses.
American journal of medical genetics 2002;113(1):23-8.
2002: Frints Suzanna G M; Froyen Guy; Marynen Peter; Willekens Diane; Legius Eric; Fryns Jean-Pierre
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: Frints Suzanna G M; Borghgraef Martine; Froyen Guy; Marynen Peter; Fryns Jean-Pierre
Clinical study and haplotype analysis in two brothers with Partington syndrome.
American journal of medical genetics 2002;112(4):361-8.
2002: Derom Catherine; Vlietinck Robert; Thiery Evert; Leroy Fernand; Fryns Jean-Pierre; Derom Robert
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: Steyaert Jean; Fryns Jean-Pierre
Psychiatric genetics: the case of single gene disorders.
European child & adolescent psychiatry 2002;11(5):201-9.
2002: Debeer Ph; de Ravel T J L; Devriendt K; Fryns J-P; Huysmans C; Van de Ven W J M
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: Michils Geneviève; Tejpar Sabine; Fryns Jean-Pierre; Legius Eric; Van Cutsem Eric; Cassiman Jean-Jacques; Matthijs Gert
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: Devriendt Koen; Fryns Jean-Pierre; Lemmens Francis; Kohlhase Jürgen; Liebers Manuela
Somatic mosaicism and variable expression of Townes-Brocks syndrome.
American journal of medical genetics 2002;111(2):230-1.
2002: Van Hove Johan L K; Van Damme-Lombaerts Rita; Grünewald Stephanie; Peters Heidi; Van Damme Boudewijn; Fryns Jean-Pierre; Arnout Jozef; Wevers Ron; Baumgartner E Regula; Fowler Brian
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.
American journal of medical genetics 2002;111(2):195-201.
2002: Legius E; Schrander-Stumpel C; Schollen E; Pulles-Heintzberger C; Gewillig M; Fryns J-P
PTPN11 mutations in LEOPARD syndrome.
Journal of medical genetics 2002;39(8):571-4.
2002: Fryns J-P; de Ravel T J L
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: Witters I; Spitz B; Van Hole C; Devriendt K; Fryns J P; Verbek K
Resolution of non-immune hydrops in Noonan syndrome with favorable outcome.
American journal of medical genetics 2002;110(4):408-9.
2002: De Vos Bernice; Jacobs Nele; Vandemeulebroecke Lieve; Derom Catherine; Fryns Jean-Pierre
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: Zeniou Maria; Pannetier Solange; Fryns Jean-Pierre; Hanauer André
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: Bienvenu Thierry; Poirier Karine; Friocourt Gaelle; Bahi Nadia; Beaumont Delphine; Fauchereau Fabien; Ben Jeema Lamia; Zemni Ramzi; Vinet Marie-Claude; Francis Fiona; Couvert Philippe; Gomot Marie; Moraine Claude; van Bokhoven Hans; Kalscheuer Vera; Frints Suzanne; Gecz Josef; Ohzaki Kanae; Chaabouni Habiba; Fryns Jean-Pierre; Desportes Vincent; Beldjord Cherif; Chelly Jamel
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: Vantrappen Greet; Rommel Nathalie; Cremers Cor W R J; Fryns Jean-Pierre; Devriendt Koen
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency.
American journal of medical genetics 2002;108(4):337-8.
2002: Syrrou Maria; Keymolen Katelÿne; Devriendt Koen; Holvoet Maureen; Thoelen Reinhilde; Verhofstadt K; Fryns Jean-Pierre
Glypican 1 gene: good candidate for brachydactyly type E.
American journal of medical genetics 2002;108(4):310-4.
2002: Strømme Petter; Mangelsdorf Marie E; Shaw Marie A; Lower Karen M; Lewis Suzanne M E; Bruyere Helene; Lütcherath Viggo; Gedeon Agi K; Wallace Robyn H; Scheffer Ingrid E; Turner Gillian; Partington Michael; Frints Suzanna G M; Fryns Jean-Pierre; Sutherland Grant R; Mulley John C; Gécz Jozef
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Nature genetics 2002;30(4):441-5.
2002: Meloni Ilaria; Muscettola Maddalena; Raynaud Martine; Longo Ilaria; Bruttini Mirella; Moizard Marie-Pierre; Gomot Marie; Chelly Jamel; des Portes Vincent; Fryns Jean-Pierre; Ropers Hans-Hilger; Magi Barbara; Bellan Cristina; Volpi Nila; Yntema Helger G; Lewis Sarah E; Schaffer Jean E; Renieri Alessandra
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nature genetics 2002;30(4):436-40.
2002: Witters I; Moerman Ph; Devriendt K; Braet P; Van Schoubroeck D; Van Assche F A; Fryns J P
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: Debeer P; Schoenmakers E F P M; Twal W O; Argraves W S; De Smet L; Fryns J P; Van De Ven W J M
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: Vogels Annick; Holvoet Maureen; Descheemaeker Mie-Jef; Fryns Jean-Pierre; Devriendt Koen
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?
Annales de génétique 2002;45(1):1-3.
2002: Vantrappen G; Rommel N; Wellens W; Cremers C W R J; Fryns J-P; Devriendt K
Autosomal dominant isolated velopharyngeal insufficiency.
Clinical genetics 2002;61(1):74-6.
2002: Descheemaeker M J; Vogels A; Govers V; Borghgraef M; Willekens D; Swillen A; Verhoeven W; Fryns J P
Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.
Journal of intellectual disability research : JIDR 2002;46(Pt 1):41-50.
2002: Witters Ingrid; Devriendt K; Legius E; Matthijs G; Van Schoubroeck D; Van Assche F A; Fryns Jean-Pierre
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: Witters I; Devriendt K; Spinnewijn D; Moerman P; Van Assche F A; Fryns J P
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: Yntema Helger G; Oudakker Astrid R; Kleefstra Tjitske; Hamel Ben C J; van Bokhoven Hans; Chelly Jamel; Kalscheuer Vera M; Fryns Jean-Pierre; Raynaud Martine; Moizard Marie-Pierre; Moraine Claude
In-frame deletion in MECP2 causes mild nonspecific mental retardation.
American journal of medical genetics 2002;107(1):81-3.
2002: Lukusa T; Smeets E; Vermeesch J R; Fryns J P
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: Vogels A; Fryns J P
The Prader-Willi syndrome and the Angelman syndrome.
Genetic counseling (Geneva, Switzerland) 2002;13(4):385-96.
2002: Prinzie P; Swillen A; Vogels A; Kockuyt V; Curfs L; Haselager G; Hellinckx W; Devriendt K; Onghena P; Van Lieshout C F M; Fryns J P
Personality profiles of youngsters with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2002;13(3):265-80.
2002: De Vos B; Frints S; Borghgraef M; Fryns J P
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: Witters I; Moerman Ph; Natens R; Van Assche F A; Fryns J P
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: Vogels A; Fryns J P
The velocardiofacial syndrome: a review.
Genetic counseling (Geneva, Switzerland) 2002;13(2):105-13.
2002: Lukusa T; Van Buggenhout G; Devriendt K; Fryns J P
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.
2001: Witters I; Van Bokhoven H; Goossens A; Van Assche F A; Fryns J P
Split-hand/split-foot malformation with paternal mutation in the p63 gene.
Prenatal diagnosis 2001;21(13):1119-22.
2001: Witters I; Devriendt K; Moerman P; Caudron J; Van Hole C; Fryns J P
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance.
American journal of medical genetics 2001;104(3):209-13.
2001: Syrrou M; Borghgraef M; Fryns J P
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: Witters I; Legius E; Moerman P; Deprest J; Van Schoubroeck D; Timmerman D; Van Assche F A; Fryns J P
Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia.
American journal of medical genetics 2001;103(4):278-82.
2001: Witters I; Moerman P; Louwagie D; Van Assche F A; Migeon B R; Fryns J P
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: Witters I; Moerman P; Muenke M; Van Assche F A; Devriendt K; Legius E; Van Schoubroeck D; Fryns J P
Semilobar holoprosencephaly in a 46,XY female fetus.
Prenatal diagnosis 2001;21(10):839-41.
2001: de Ravel T J; Legius E; Brems H; Van Hoestenberghe R; Gillis P H; Fryns J P
Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor.
Clinical dysmorphology 2001;10(4):263-7.
2001: Veugelers M; De Cat B; Delande N; Esselens C; Bonk I; Vermeesch J; Marynen P; Fryns J P; David G
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: Peeters H; Debeer P; Groenen P; Van Esch H; Vanderlinden G; Eyskens B; Mertens L; Gewillig M; Van de Ven W; Fryns J P; Devriendt K
Recurrent involvement of chromosomal region 6q21 in heterotaxy.
American journal of medical genetics 2001;103(1):44-7.
2001: van Bokhoven H; Hamel B C; Bamshad M; Sangiorgi E; Gurrieri F; Duijf P H; Vanmolkot K R; van Beusekom E; van Beersum S E; Celli J; Merkx G F; Tenconi R; Fryns J P; Verloes A; Newbury-Ecob R A; Raas-Rotschild A; Majewski F; Beemer F A; Janecke A; Chitayat D; Crisponi G; Kayserili H; Yates J R; Neri G; Brunner H G
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: Goffin A; Hoefsloot L H; Bosgoed E; Swillen A; Fryns J P
PTEN mutation in a family with Cowden syndrome and autism.
American journal of medical genetics 2001;105(6):521-4.
2001: López-Correa C; Dorschner M; Brems H; Lázaro C; Clementi M; Upadhyaya M; Dooijes D; Moog U; Kehrer-Sawatzki H; Rutkowski J L; Fryns J P; Marynen P; Stephens K; Legius E
Recombination hotspot in NF1 microdeletion patients.
Human molecular genetics 2001;10(13):1387-92.
2001: Van Buggenhout G J; van Ravenswaaij-Arts C; Mieloo H; Syrrou M; Hamel B; Brunner H; Fryns J P
Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.
Annales de génétique 2001;44(2):89-92.
2001: Frints S G; Fryns J; Lagae L; Syrrou M; Marynen P; Devriendt K
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.
Annales de génétique 2001;44(2):71-6.
2001: Devriendt K; Kim A S; Mathijs G; Frints S G; Schwartz M; Van Den Oord J J; Verhoef G E; Boogaerts M A; Fryns J P; You D; Rosen M K; Vandenberghe P
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
Nature genetics 2001;27(3):313-7.
2001: Van Buggenhout G J; Trommelen J C; Brunner H G; Hamel B C; Fryns J
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
Annales de génétique 2001;44(1):47-55.
2001: Witters I; Schreurs J; Van Wing J; Wouters W; Fryns J P
Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum.
Prenatal diagnosis 2001;21(1):62-4.
2001: De Ravel T J; Deckers E; Alliet P L; Petit P; Fryns J P
The ICF syndrome: new case and update.
Genetic counseling (Geneva, Switzerland) 2001;12(4):379-85.
2001: Debeer P; De Smet L; Fryns J P
Intrafamilial clinical variability in type C brachydactyly.
Genetic counseling (Geneva, Switzerland) 2001;12(4):353-8.
2001: Swillen A; Devriendt K; Ghesquière P; Fryns J P
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: Moog U; De Die-Smulders C E; Schrander-Stumpel C T; Engelen J J; Hamers A J; Frints S; Fryns J P
Holoprosencephaly: the Maastricht experience.
Genetic counseling (Geneva, Switzerland) 2001;12(3):287-98.
2001: De Smet L; Devriendt K; Fryns J P
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: Lukusa T; Willekens D; Lukusa N; De Cock F; Fryns J P
Terminal 6q25.3 deletion and abnormal behaviour.
Genetic counseling (Geneva, Switzerland) 2001;12(3):213-21.
2001: Witters I; Moerman P H; Van Assche F A; Fryns J P
Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence.
Genetic counseling (Geneva, Switzerland) 2001;12(1):91-4.
2001: Smeets E; Vandenbossche L; Fryns J P
Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.
Genetic counseling (Geneva, Switzerland) 2001;12(1):85-9.
2001: Marcelis C; Schrander-Stumpel C; Engelen J; Schoonbrood-Lenssen A; Willemse A; Beemer F; Sigaudy S; Missirian C; Philip N; Fryns J P
Wolf-Hirschhorn (4P-) syndrome in adults.
Genetic counseling (Geneva, Switzerland) 2001;12(1):35-48.
2001: Fryns J P
Micro-ablepharon of the upper eyelids and vaginal atresia.
Genetic counseling (Geneva, Switzerland) 2001;12(1):101-2.
2001: Van Buggenhout G J; Trijbels J M; Wevers R; Trommelen J C; Hamel B C; Brunner H G; Fryns J P
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: Vantrappen G; Rommel N; Devriendt K; Cremers C W; Feenstra L; Fryns J P
Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
Acta oto-rhino-laryngologica Belgica 2001;55(1):43-8.
2000: Steyaert J; de Die-Smulders C; Fryns J P; Goossens E; Willekens D
Behavioral phenotype in childhood type of dystrophia myotonica.
American journal of medical genetics 2000;96(6):888-9.
2000: Fryns J P; Borghgraef M; Brown T W; Chelly J; Fisch G S; Hamel B; Hanauer A; Lacombe D; Luo L; MacPherson J N; Mandel J L; Moraine C; Mulley J; Nelson D; Oostra B; Partington M; Ramakers G J; Ropers H H; Rousseau F; Schwartz C; Steinbach P; Stoll C; Tranebjaerg L; Turner G; Van Bokhoven H; Vianna-Morgante A
9th international workshop on fragile X syndrome and X-linked mental retardation.
American journal of medical genetics 2000;94(5):345-60.
2000: Frints S G; De Smet L; Fabry G; Fryns J P
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: Meloni I; Bruttini M; Longo I; Mari F; Rizzolio F; D'Adamo P; Denvriendt K; Fryns J P; Toniolo D; Renieri A
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: Claes S; Devriendt K; Van Goethem G; Roelen L; Meireleire J; Raeymaekers P; Cassiman J J; Fryns J P
Novel syndromic form of X-linked complicated spastic paraplegia.
American journal of medical genetics 2000;94(1):1-4.
2000: Debeer P; Schoenmakers E F; Thoelen R; Holvoet M; Kuittinen T; Fabry G; Fryns J P; Goodman F R; Van de Ven W J
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: Bienvenu T; des Portes V; McDonell N; Carrié A; Zemni R; Couvert P; Ropers H H; Moraine C; van Bokhoven H; Fryns J P; Allen K; Walsh C A; Boué J; Kahn A; Chelly J; Beldjord C
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
American journal of medical genetics 2000;93(4):294-8.
2000: Vogels A; Devriendt K; Vermeesch J R; Van Dael R; Marynen P; Dewaele P; Hageman J; Holvoet M; Fryns J P
Cryptic translocation t(5;18) in familial mental retardation.
Annales de génétique 2000;43(3-4):117-23.
2000: Van Esch H; Groenen P; Nesbit M A; Schuffenhauer S; Lichtner P; Vanderlinden G; Harding B; Beetz R; Bilous R W; Holdaway I; Shaw N J; Fryns J P; Van de Ven W; Thakker R V; Devriendt K
GATA3 haplo-insufficiency causes human HDR syndrome.
Nature 2000;406(6794):419-22.
2000: Keymolen K; Van Damme-Lombaerts R; Verloes A; Fryns J P
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: Witters I; Devriendt K; Moerman P; van Hole C; Fryns J P
Diaphragmatic hernia as the first echographic sign in Apert syndrome.
Prenatal diagnosis 2000;20(5):404-6.
2000: Veugelers M; Cat B D; Muyldermans S Y; Reekmans G; Delande N; Frints S; Legius E; Fryns J P; Schrander-Stumpel C; Weidle B; Magdalena N; David G
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: Devriendt K; Keymolen K; Roelen L; Van Goethem G; Meireleire J; Fryns J P
Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.
Clinical dysmorphology 2000;9(2):111-4.
2000: Lukusa T; Devriendt K; Holvoet M; Fryns J P
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: Zemni R; Bienvenu T; Vinet M C; Sefiani A; Carrié A; Billuart P; McDonell N; Couvert P; Francis F; Chafey P; Fauchereau F; Friocourt G; des Portes V; Cardona A; Frints S; Meindl A; Brandau O; Ronce N; Moraine C; van Bokhoven H; Ropers H H; Sudbrak R; Kahn A; Fryns J P; Beldjord C; Chelly J
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: Fryns J P
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: Witters I; Van Ranst M; Fryns J P
Cytomegalovirus reactivation in pregnancy and subsequent isolated bilateral hearing loss in the infant.
Genetic counseling (Geneva, Switzerland) 2000;11(4):375-8.
2000: Van Buggenhout G J; Descheemaeker M J; Thiry P; Trommelen J C; Hamel B C; Fryns J P
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications.
Genetic counseling (Geneva, Switzerland) 2000;11(4):363-73.
2000: Goossens E; Steyaert J; De Die-Smulders C; Willekens D; Fryns J P
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: Vantrappen G; Feenstra L; Fryns J P
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: Witters I; Moerman P; Fryns J P
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: Lukusa T; Fryns J P
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: Willekens D; De Cock P; Fryns J P
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: Vantrappen G; Feenstra L; Macours-Verelst C; Fryns J P
Mandibulo-acral dysplasia in a one-year-old boy.
Genetic counseling (Geneva, Switzerland) 2000;11(1):49-52.
2000: Witters I; Fryns J P
Prenatal diagnosis of central nervous system abnormalities: diagnostic possibilities and limitations of fetal neurosonography.
Genetic counseling (Geneva, Switzerland) 2000;11(1):3-11.
1999: Swillen A; Vandeputte L; Cracco J; Maes B; Ghesquière P; Devriendt K; Fryns J P
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: Vermeesch J R; Duhamel H; Petit P; Falzetti D; Fryns J P; Marynen P
Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male.
Human genetics 1999;105(6):611-8.
1999: Yntema H G; van den Helm B; Kissing J; van Duijnhoven G; Poppelaars F; Chelly J; Moraine C; Fryns J P; Hamel B C; Heilbronner H; Pander H J; Brunner H G; Ropers H H; Cremers F P; van Bokhoven H
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: Decruyenaere M; Evers-Kiebooms G; Boogaerts A; Cassiman J J; Cloostermans T; Demyttenaere K; Dom R; Fryns J P
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: van den Borne H W; van Hooren R H; van Gestel M; Rienmeijer P; Fryns J P; Curfs L M
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: Moog U; Maroteaux P; Schrander-Stumpel C T; van Ooij A; Schrander J J; Fryns J P
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: Carrié A; Jun L; Bienvenu T; Vinet M C; McDonell N; Couvert P; Zemni R; Cardona A; Van Buggenhout G; Frints S; Hamel B; Moraine C; Ropers H H; Strom T; Howell G R; Whittaker A; Ross M T; Kahn A; Fryns J P; Beldjord C; Marynen P; Chelly J
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: Van Buggenhout G J; Trommelen J C; Schoenmaker A; De Bal C; Verbeek J J; Smeets D F; Ropers H H; Devriendt K; Hamel B C; Fryns J P
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: De Paepe A; Loeys B; Devriendt K; Fryns J P
Occipital Horn syndrome in a 2-year-old boy.
Clinical dysmorphology 1999;8(3):179-83.
1999: Claes S; Volcke P; Devriendt K; Holvoet M; Raeymaekers P; Cassiman J J; Fryns J P
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: Van Esch H; Groenen P; Daw S; Poffyn A; Holvoet M; Scambler P; Fryns J P; Van de Ven W; Devriendt K
Partial DiGeorge syndrome in two patients with a 10p rearrangement.
Clinical genetics 1999;55(4):269-76.
1999: Fisch G S; Carpenter N; Holden J J; Howard-Peebles P N; Maddalena A; Borghgraef M; Steyaert J; Fryns J P
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: Devriendt K; Matthijs G; Van Dael R; Gewillig M; Eyskens B; Hjalgrim H; Dolmer B; McGaughran J; Bröndum-Nielsen K; Marynen P; Fryns J P; Vermeesch J R
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: Devriendt K; Matthijs G; Holvoet M; Schoenmakers E; Fryns J P
Triplication of distal chromosome 10q.
Journal of medical genetics 1999;36(3):242-5.
1999: Lukusa T; Devriendt K; Jaeken J; Fryns J P
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: Lukusa T; van den Berghe L; Smeets E; Fryns J P
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: Vantrappen G; Feenstra L; Fryns J P
On the association profound nerve deafness, semilobar holoprosencephaly, and minor midline developmental anomalies.
Genetic counseling (Geneva, Switzerland) 1999;10(4):399-401.
1999: Fryns J P; Dumoulin M; Hens G
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: Keymolen K; De Smet L; Kenis H; Fryns J P
Segmentary fibrous dysplasia manifesting as macrodactyly.
Genetic counseling (Geneva, Switzerland) 1999;10(4):373-6.
1999: De Smet L; Keymolen K; Fryns J P
Unilateral longitudinal radial ray deficiency of the hand and metacarpal 4-5 synostosis.
Genetic counseling (Geneva, Switzerland) 1999;10(4):369-72.
1999: Keymolen K; De Smet L; Bracke P; Fryns J P
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: Tabaku M; Legius E; Robberecht W; Sciot R; Fryns J P; Cassiman J J; Matthijs G
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: Lukusa T; Devriendt K; Fryns J P
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: Van Buggenhout G; Trommelen J; Hamel B; Fryns J P
13q deletion syndrome in an adult mentally retarded patient.
Genetic counseling (Geneva, Switzerland) 1999;10(2):177-81.
1999: Plissart L; Fryns J P
Early development (5 to 48 months) in Williams syndrome. A study of 14 children.
Genetic counseling (Geneva, Switzerland) 1999;10(2):151-6.
1999: Goossens E; Cayenberghs R; Fryns J P
Moderate mental retardation without dysmorphic symptoms in intrachromosomal 11p12 duplication.
Genetic counseling (Geneva, Switzerland) 1999;10(2):137-40.
1999: Goossens E; Decock P; Potgieter S; Fryns J P
Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.
Genetic counseling (Geneva, Switzerland) 1999;10(2):133-6.
1999: Swillen A; Devriendt K; Legius E; Prinzie P; Vogels A; Ghesquière P; Fryns J P
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.
Genetic counseling (Geneva, Switzerland) 1999;10(1):79-88.
1999: Rommel N; Vantrappen G; Swillen A; Devriendt K; Feenstra L; Fryns J P
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: Van Esch H; Groenen P; Fryns J P; Van de Ven W; Devriendt K
The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
Genetic counseling (Geneva, Switzerland) 1999;10(1):59-65.
1999: Vantrappen G; Devriendt K; Swillen A; Rommel N; Vogels A; Eyskens B; Gewillig M; Feenstra L; Fryns J P
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: Fryns J P; Van Buggenhout G
Structural chromosome rearrangements in couples with recurrent fetal wastage.
European journal of obstetrics, gynecology, and reproductive biology 1998;81(2):171-6.
1998: Witters I; Van Buggenhout G; Moerman P; Fryns J P
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: Swillen A; Devriendt K; Vantrappen G; Vogels A; Rommel N; Fryns J P; Eyskens B; Gewillig M; Dumoulin M
Familial deletions of chromosome 22q11: the Leuven experience.
American journal of medical genetics 1998;80(5):531-2.
1998: Lukusa T; Fryns J P
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: Fryns J P; Lagae L; Rizzo W B
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: Lukusa T; Devriendt K; Holvoet M; Fryns J P
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: Devriendt K; Fryns J P; Mortier G; van Thienen M N; Keymolen K
The annual incidence of DiGeorge/velocardiofacial syndrome.
Journal of medical genetics 1998;35(9):789-90.
1998: Devriendt K; Matthijs G; Van Damme B; Van Caesbroeck D; Eccles M; Vanrenterghem Y; Fryns J P; Leys A
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: Bienvenu T; des Portes V; Saint Martin A; McDonell N; Billuart P; Carrié A; Vinet M C; Couvert P; Toniolo D; Ropers H H; Moraine C; van Bokhoven H; Fryns J P; Kahn A; Beldjord C; Chelly J
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Human molecular genetics 1998;7(8):1311-5.
1998: Fryns J P; Willekens D; Van Schoubroeck D; Moerman P
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: van Lieshout C F; De Meyer R E; Curfs L M; Fryns J P
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: Matthijs G; Devriendt K; Fryns J P
The prenatal diagnosis of spinal muscular atrophy.
Prenatal diagnosis 1998;18(6):607-10.
1998: Devriendt K; Stoffelen D; Pfeiffer R; Leys A; Fryns J P
Oto-onycho-peroneal syndrome: confirmation of a syndrome.
Journal of medical genetics 1998;35(6):508-9.
1998: Devriendt K; Swillen A; Fryns J P
Deletion in chromosome region 22q11 in a child with CHARGE association.
Clinical genetics 1998;53(5):408-10.
1998: Schrander-Stumpel C; Fryns J P
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
European journal of pediatrics 1998;157(5):355-62.
1998: Fryns J P; Van Lingen C; Devriendt K; Legius E; Raus P
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: Groenen P M; Vanderlinden G; Devriendt K; Fryns J P; Van de Ven W J
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: van Lieshout C F; de Meyer R E; Curfs L M; Koot H M; Fryns J P
Problem behaviors and personality of children and adolescents with Prader-Willi syndrome.
Journal of pediatric psychology 1998;23(2):111-20.
1998: Billuart P; Bienvenu T; Ronce N; des Portes V; Vinet M C; Zemni R; Roest Crollius H; Carrié A; Fauchereau F; Cherry M; Briault S; Hamel B; Fryns J P; Beldjord C; Kahn A; Moraine C; Chelly J
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
Nature 1998;392(6679):923-6.
1998: Devriendt K; Groenen P; Van Esch H; van Dijck M; Van de Ven W; Fryns J P; Proesmans W
Vesico-ureteral reflux: a genetic condition?
European journal of pediatrics 1998;157(4):265-71.
1998: Devriendt K; Van Schoubroeck D; Eyskens B; Vantrappen G; Swillen A; Gewillig M; Dumoulin M; Moerman P; Vandenberghe K; Fryns J P
Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.
Prenatal diagnosis 1998;18(1):68-72.
1998: Devriendt K; Van Schoubroeck D; Eyskens B; Gewillig M; Vandenberghe K; Fryns J P
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: Devriendt K; Standaert L; Van Hole C; Devlieger H; Fryns J P
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.
1998: Frints S G; Schoenmakers E F; Smeets E; Petit P; Fryns J P
De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.
American journal of medical genetics 1998;75(2):153-8.
1998: Legius E; Daenen W; Vandenbergh V; Verbeeck G; Bex M; Fryns J P
Syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).
Genetic counseling (Geneva, Switzerland) 1998;9(4):287-90.
1998: Devriendt K; Matthijs G; Meireleire J; Roelen L; van Buggenhout G; Fryns J P
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).
Genetic counseling (Geneva, Switzerland) 1998;9(4):283-6.
1998: van Buggenhout G; De Smet L; Maroteaux P; Fryns J P
Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth.
Genetic counseling (Geneva, Switzerland) 1998;9(4):277-81.
1998: Petit P; Devriendt K; Azou M; Gewillig M; Fryns J P
Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes.
Genetic counseling (Geneva, Switzerland) 1998;9(4):271-5.
1998: Lukusa T; Van Buggenhout G; Devriendt K; Meireleire J; Van Goethem G; Roelen L; Fryns J P
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: Petit P; Devriendt K; Vermeesch J R; Meireleire J; Fryns J P
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: Moog U; Schoonbrood-Lenssen A M; Schrander-Stumpel C T; Fryns J P
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: Van Buggenhout G; Trommelen J; Hamel B; Fryns J P
Björnstad syndrome in a patient with mental retardation.
Genetic counseling (Geneva, Switzerland) 1998;9(3):201-4.
1998: Devriendt K; Holvoet M; Fryns J P
Further delineation of the KBG syndrome.
Genetic counseling (Geneva, Switzerland) 1998;9(3):191-4.
1998: Debeer P; Schoenmakers E F; Thoelen R; Fryns J P; Van de Ven W J
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: Van Buggenhout G; De Coen L; Fryns J P
Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.
Annales de génétique 1998;41(2):77-81.
1998: Fryns J P; Smeets E; Devriendt K; Petit P
Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.
Annales de génétique 1998;41(2):73-6.
1998: Vermeesch J R; Falzetti D; Van Buggenhout G; Fryns J P; Marynen P
Chromosome healing of constitutional chromosome deletions studied by microdissection.
Cytogenetics and cell genetics 1998;81(1):68-72.
1998: Petit P; Devriendt K; Vermeesch J R; De Cock P; Fryns J P
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: Fryns J P; Devriendt K; Detroch C; Decock P
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: Moerman P; Fryns J P
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study.
Genetic counseling (Geneva, Switzerland) 1998;9(1):39-43.
1998: Frints S G; Schrander-Stumpel C T; Schoenmakers E F; Engelen J J; Reekers A B; Van den Neucker A M; Smeets E; Devlieger H; Fryns J P
Strong variable clinical presentation in 3 patients with 7q terminal deletion.
Genetic counseling (Geneva, Switzerland) 1998;9(1):5-14.
1997: Claes S; Vogels A; Holvoet M; Devriendt K; Raeymaekers P; Cassiman J J; Fryns J P
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: Decruyenaere M; Evers-Kiebooms G; Boogaerts A; Cloostermans T; Cassiman J J; Demyttenaere K; Dom R; Fryns J P; Van den Berghe H
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: Claes S; Devriendt K; D'Adamo P; Meireleire J; Raeymaekers P; Toniolo D; Cassiman J J; Fryns J P
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: Steyaert J; Umans S; Willekens D; Legius E; Pijkels E; de Die-Smulders C; Van den Berghe H; Fryns J P
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: Claeys I; Holvoet M; Eyskens B; Adriaensens P; Gewillig M; Fryns J P; Devriendt K
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: Claes S; Devriendt K; Lagae L; Ceulemans B; Dom L; Casaer P; Raeymaekers P; Cassiman J J; Fryns J P
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: Fryns J P; van Schoubroeck D; Vandenberghe K; Nagels H; Klerckx P
Diagnostic echographic findings in cryptophthalmos syndrome (Fraser syndrome).
Prenatal diagnosis 1997;17(6):582-4.
1997: Swillen A; Devriendt K; Legius E; Eyskens B; Dumoulin M; Gewillig M; Fryns J P
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: Vermeesch J R; Petit P; Speleman F; Devriendt K; Fryns J P; Marynen P
Interstitial telomeric sequences at the junction site of a jumping translocation.
Human genetics 1997;99(6):735-7.
1997: Devriendt K; Moerman P; Van Schoubroeck D; Vandenberghe K; Fryns J P
Chromosome 22q11 deletion presenting as the Potter sequence.
Journal of medical genetics 1997;34(5):423-5.
1997: Devriendt K; Petit P; Matthijs G; Vermeesch J R; Holvoet M; De Muelenaere A; Marynen P; Cassiman J J; Fryns J P
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.
Journal of medical genetics 1997;34(5):395-9.
1997: Fryns J P; Stinckens C; Feenstra L
Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome.
Clinical genetics 1997;51(4):271-4.
1997: Devriendt K; Van Hoestenberghe R; Van Hole C; Devlieger H; Gewillig M; Moerman P; Van den Berghe H; Fryns J P
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: Devriendt K; Matthijs G; Claes S; Legius E; Proesmans W; Cassiman J J; Fryns J P
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: De Paepe A; Nuytinck L; Raes M; Fryns J P
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: Fryns J P; Verresen H; Van den Berghe H
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: Devriendt K; Matthijs G; Legius E; Schollen E; Blockmans D; van Geet C; Degreef H; Cassiman J J; Fryns J P
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
American journal of human genetics 1997;60(3):581-7.
1997: Stinckens C; Ensink R; Feenstra L; Fryns J P; Cremers C
Non-syndromic dominant sensorineural hearing loss: from a few phenotypes to many genotypes.
International journal of pediatric otorhinolaryngology 1997;38(3):237-45.
1997: Devriendt K; De Smet L; De Boeck K; Fryns J P
DiGeorge syndrome and unilateral symbrachydactyly.
Genetic counseling (Geneva, Switzerland) 1997;8(4):345-7.
1997: Petit P; Fryns J P
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: Vogels A; Haegeman J; Fryns J P
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: Soekarman D; Volcke P; Fryns J P
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: Van Buggenhout G; Moerman P H; Fryns J P
Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31).
Genetic counseling (Geneva, Switzerland) 1997;8(1):19-24.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

Jean-Pierre Fryns

Research Profile (preview)

Disorders

Procedures

Physiology

Concepts & Ideas

Living Beings

Anatomy

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of Jean-Pierre Fryns (preview)

All Publications