FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

koenraad devriendt

Research Profile

Disorders

Physiology

Living Beings

Procedures

Concepts & Ideas

Anatomy

Chromosomes, Human, Pair 22

Chemicals & Drugs

Co-author Network

Publications

TOP 3
Gabrielle M Christenhusz; koenraad devriendt; Kris Dierickx
To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts.
Bénédicte Demeer; koenraad devriendt; Helen V Firth; Sophie Julia; Sandrine Lanco Dosen; Cédric Le Caignec; Dominique Martin-Coignard; Gilles Morin; Florence Petit; Ghislaine Plessis; Aline Receveur; Kerstin Sjörs; Ann-Charlotte Thuresson; Joris Andrieux; Bruno Delobel; Michèle Mathieu-Dramard
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.
Janneke H M Schuurs-Hoeijmakers; Marloes Steehouwer; Mariëlle E M Swinkels; Hans van Bokhoven; Joris Veltman; Lisenka E L M Vissers; Michèl A Willemsen; Arjan P M de Brouwer; Bert B A de Vries; koenraad devriendt; Christian Gilissen; Maureen Holvoet; Nicholas Katsanis; Edwin C Oh; Han G Brunner
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Register for free to view:

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 research activity
of experts around the globe

Geonetwork of koenraad devriendt (preview)

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

Flash Player Required

All Publications

2013: Gabrielle M Christenhusz; koenraad devriendt; Kris Dierickx
To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts.
European journal of human genetics : EJHG 2013;21(3):248-55.
2013: Bénédicte Demeer; koenraad devriendt; Helen V Firth; Sophie Julia; Sandrine Lanco Dosen; Cédric Le Caignec; Dominique Martin-Coignard; Gilles Morin; Florence Petit; Ghislaine Plessis; Aline Receveur; Kerstin Sjörs; Ann-Charlotte Thuresson; Joris Andrieux; Bruno Delobel; Michèle Mathieu-Dramard
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.
European journal of medical genetics 2013;56(1):26-31.
2012: Janneke H M Schuurs-Hoeijmakers; Marloes Steehouwer; Mariëlle E M Swinkels; Hans van Bokhoven; Joris Veltman; Lisenka E L M Vissers; Michèl A Willemsen; Arjan P M de Brouwer; Bert B A de Vries; koenraad devriendt; Christian Gilissen; Maureen Holvoet; Nicholas Katsanis; Edwin C Oh; Han G Brunner
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
American journal of human genetics 2012;91(6):1122-7.
2012: Mauro Longoni; Maria Loscertales; Faouzi I Maalouf; Kristin M Noonan; Ji H Park; Alan Rope; Meaghan K Russell; Osamu Shimokawa; Bernarda Strauss; Adam A Tracy; Dagmar Wieczorek; Elaine H Zackai; Omar A Abdul-Rahman; Gareth Baynam; Steven B Bleyl; Paul D Brady; Jeroen Breckpot; Chih P Chen; Caroline M Coletti; koenraad devriendt; Patricia K Donahoe; Gabriele Gillessen-Kaesbach; Arthur W Grix; Kasper Lage; Charles Lee; Barbara R Pober
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
American journal of medical genetics. Part A 2012;158A(12):3148-58.
2012: Daniela Börnigen; Patrick De Causmaecker; Bart De Moor; koenraad devriendt; Francisco Bonachela-Capdevila; Léon-Charles Tranchevent; Yves Moreau
An unbiased evaluation of gene prioritization tools.
Bioinformatics (Oxford, England) 2012;28(23):3081-8.
2012: Damien Lederer; Pierre Lefesvre; Dipayan Mitra; Vincent Vander Poorten; Christine Verellen-Dumoulin; Brian Wilson; Nigel Kirkham; koenraad devriendt
Atypical findings in three patients with Pai syndrome and literature review.
American journal of medical genetics. Part A 2012;158A(11):2899-904.
2012: M Isrie; Joris R Vermeesch; T J L de Ravel; koenraad devriendt; Guy Froyen; Jean-Pierre Fryns; Hilde Van Esch
Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.
European journal of medical genetics 2012;55(11):577-85.
2012: Gabrielle M Christenhusz; koenraad devriendt; Joris Vermeesch; Kris Dierickx
Why genomics shouldn't get too personal: in favor of filters: Re: invited comment by Holly K. Tabor et al. in American Journal of Medical Genetics Part A Volume 155.
American journal of medical genetics. Part A 2012;158A(10):2641-2; author reply 2643-4.
2012: Jacoba J Louw; Geert Verleden; Marc Gewillig; koenraad devriendt
Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema.
American journal of medical genetics. Part A 2012;158A(8):2053-4.
2012: Tjitske Kleefstra; Tom S Koemans; Jamie M Kramer; Kornelia Neveling; Willy M Nillesen; Trine Prescott; Annette Schenck; Han G Brunner; Robin D Clark; Arjan P M de Brouwer; koenraad devriendt; Michaela Fenckova; Christian Gilissen; Nael Nadif Kasri; Willem M R van den Akker; Jeroen van Reeuwijk; Joris Veltman; Lisenka E L M Vissers; Marjolein H Willemsen; Willemijn Wissink-Lindhout; Huiqing Zhou; Hans van Bokhoven
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
American journal of human genetics 2012;91(1):73-82.
2012: Gijs W E Santen; Yu Sun; Akemi Tomoda; Aurore Carré; koenraad devriendt; Antoinet C J Gijsbers; Arie van Haeringen; Maureen Holvoet; Saskia A J Lesnik Oberstein; Hiroyo Mabe; Michel Polak; Claudia Ruivenkamp; Emilia K Bijlsma
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.
Journal of medical genetics 2012;49(6):366-72.
2012: Femke Hannes; Oliver Quarrell; koenraad devriendt; Jean-Pierre Fryns; Peter Hammond; Joris R Vermeesch
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
American journal of medical genetics. Part A 2012;158A(5):996-1004.
2012: Rachel Soemedi; Chris Thornborough; Ana Topf; Ian J Wilson; David S Winlaw; Mark Lathrop; Thahira Rahman; Anita Rauch; Mauro Santibanez-Koref; Kerry Setchfield; Jamie Bentham; Shoumo Bhattacharya; Gillian M Blue; Jeroen Breckpot; J David Brook; Frances Bu'Lock; Heather J Cordell; Catherine Cosgrove; Rebecca Darlay; koenraad devriendt; Elise Glen; Judith A Goodship; Javier Granados-Riveron; Darroch Hall; Michael Hofbeck; Ni Huang; Matthew E Hurles; Bernard D Keavney
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Human molecular genetics 2012;21(7):1513-20.
2012: Jeroen Breckpot; Karel Allegaert; Marijke Bauters; Marc Gewillig; Yves Moreau; Bernard Thienpont; Léon-Charles Tranchevent; Joris R Vermeesch; koenraad devriendt
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
American journal of medical genetics. Part A 2012;158A(3):574-80.
2012: Eva Klopocki; Ulrike Kordass; Ingo Kurth; Karina Lezirovitz; Silke Lohan; Outi Mäkitie; Regina Celia Mingroni Netto; Mohammed Naveed; Charlotte W Ockeloen; Uppala Radhakrishna; Anna Rajab; Hitesh Shah; Renata Soares Thiele de Aguiar; Sigmar Stricker; Matthew Warman; Stylianos E Antonarakis; koenraad devriendt; Sandra C Doelken; Rolf Habenicht; Maja Hempel; Denise Horn; Aleksander Jamsheer; Stefan Mundlos
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Journal of medical genetics 2012;49(2):119-25.
2012: Aimé Lumaka; Gerrye Mubungu; Celestin Nsibu; Bruno-Paul Tady; T Lukusa; koenraad devriendt
X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.
European journal of pediatrics 2012;171(2):267-70.
2012: Steven Van Campenhout; Hilde Van Esch; Griet Van Buggenhout; J Breckpot; koenraad devriendt; J-P Frijns; B Maes; H Peeters; Ann Swillen
Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.
Genetic counseling (Geneva, Switzerland) 2012;23(2):135-48.
2012: Jeroen Breckpot; koenraad devriendt; Marc Gewillig; Yves Moreau; Bernard Thienpont; Léon-Charles Tranchevent; Els Troost; Marijke Bauters; Joris R Vermeesch; Hilde Van Esch
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.
European journal of medical genetics 2012;55(1):12-6.
2011: Joris R Vermeesch; Irina Balikova; Jean-Pierre Fryns; Connie Schrander-Stumpel; koenraad devriendt
The causality of de novo copy number variants is overestimated.
European journal of human genetics : EJHG 2011;19(11):1112-3.
2011: Irina Balikova; T J L de Ravel; Carmen Ayuso; Bernard Thienpont; Ingele Casteels; Cristina Villaverde; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.
American journal of ophthalmology 2011;151(6):1087-1094.e45.
2011: Aimée D C Paulussen; Alexander P A Stegmann; Marinus J Blok; Demis Tserpelis; Crool Posma-Velter; Yvonne Detisch; Eric E J Smeets; Annemieke Wagemans; Jaap J P Schrander; Marie-José H van den Boogaard; Jasper van der Smagt; Arie van Haeringen; Irene Stolte-Dijkstra; Wilhelmina S Kerstjens-Frederikse; Grazia M Mancini; Marja W Wessels; Raoul C M Hennekam; Maaike Vreeburg; Joep P M Geraedts; T J L de Ravel; Jean-Pierre Fryns; H J M Smeets; koenraad devriendt; Constance T R M Schrander-Stumpel
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Human mutation 2011;32(2):E2018-25.
2011: Paul D Brady; Kasemsri Srisupundit; koenraad devriendt; Jean-Pierre Fryns; Jan A Deprest; Joris R Vermeesch
Recent developments in the genetic factors underlying congenital diaphragmatic hernia.
Fetal diagnosis and therapy 2011;29(1):25-39.
2011: L Backx; E Seuntjens; koenraad devriendt; Joris R Vermeesch; H Van Esch
A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum.
Cytogenetic and genome research 2011;132(3):135-43.
2010: Kasemsri Srisupundit; Paul D Brady; koenraad devriendt; Jean-Pierre Fryns; Rogelio Cruz-Martinez; Eduard Gratacos; Jan A Deprest; Joris R Vermeesch
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH).
Prenatal diagnosis 2010;30(12-13):1198-206.
2010: Jeroen Breckpot; Werner Budts; Francis de Zegher; Joris R Vermeesch; koenraad devriendt
Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome.
European journal of medical genetics 2010;53(6):408-10.
2010: Jeroen Breckpot; Bernard Thienpont; Hilde Peeters; Thomy de Ravel; Amihood Singer; Maissa Rayyan; Karel Allegaert; Christine Vanhole; Benedicte Eyskens; Joris Robert Vermeesch; Marc Gewillig; koenraad devriendt
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.
The Journal of pediatrics 2010;156(5):810-7, 817.e1-817.e4.
2010: G Eda Utine; Jeroen Breckpot; Bernard Thienpont; Yasemin Alanay; Cemalettin Aksoy; Koray Boduroğlu; koenraad devriendt
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
American journal of medical genetics. Part A 2010;152A(4):947-9.
2010: Jeroen Breckpot; Robert Hermans; Vincent Vander Poorten; Joris R Vermeesch; koenraad devriendt
Congenital nasal piriform aperture stenosis as a rare manifestation of monosomy 1p36.
Clinical dysmorphology 2010;19(2):95-7.
2010: A Crepel; J Breckpot; Jean-Pierre Fryns; W De la Marche; Jean Steyaert; koenraad devriendt; H Peeters
DISC1 duplication in two brothers with autism and mild mental retardation.
Clinical genetics 2010;77(4):389-94.
2010: Ellen Denayer; koenraad devriendt; Thomy de Ravel; Griet Van Buggenhout; Eric E J Smeets; I Francois; Yves Sznajer; Marguerita Craen; George Leventopoulos; Léon Mutesa; Willy Vandecasseye; Guy Massa; Hulya Kayserili; Raf Sciot; Jean-Pierre Fryns; Eric Legius
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Genes, chromosomes & cancer 2010;49(3):242-52.
2010: Alfredo Orrico; L Galli; L Faivre; J Clayton-Smith; S M Azzarello-Burri; J M Hertz; S Jacquemont; R Taurisano; I Arroyo Carrera; E Tarantino; koenraad devriendt; D Melis; T Thelle; U Meinhardt; V Sorrentino
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
American journal of medical genetics. Part A 2010;152A(2):313-8.
2010: Liesbeth Backx; Jean-Pierre Fryns; Carlo Marcelis; koenraad devriendt; Joris R Vermeesch; Hilde Van Esch
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.
American journal of medical genetics. Part A 2010;152A(2):319-26.
2010: Jan A Deprest; Roland Devlieger; Kasemsri Srisupundit; Veronika Beck; Inga Sandaite; Silvia Rusconi; Filip Claus; Gunnar Naulaers; Marc Van de Velde; Paul Brady; koenraad devriendt; Joris Vermeesch; Jaan Toelen; Marianne Carlon; zeger debyser; Luc De Catte; Liesbeth Lewi
Fetal surgery is a clinical reality.
Seminars in fetal & neonatal medicine 2010;15(1):58-67.
2010: B I Dimitrov; T J L de Ravel; J Van Driessche; C de Die-Smulders; A Toutain; Joris R Vermeesch; Jean-Pierre Fryns; koenraad devriendt; Philippe Debeer
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.
Journal of medical genetics 2010;47(2):103-11.
2010: Lien De Somer; Carine Wouters; Marie-Anne Morren; Rita De Vos; Joost Van Den Oord; koenraad devriendt; Isabelle Meyts
Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report.
Orphanet journal of rare diseases 2010;5():37.
2010: Roland Barriot; Jeroen Breckpot; Bernard Thienpont; Sylvain Brohée; Steven Van Vooren; Bert Coessens; Léon-Charles Tranchevent; Peter Van Loo; Marc Gewillig; koenraad devriendt; Yves Moreau
Collaboratively charting the gene-to-phenotype network of human congenital heart defects.
Genome medicine 2010;2(3):16.
2009: Guy Froyen; K Govaerts; Hilde Van Esch; J Verbeeck; M-L Tuomi; H Heikkilä; S Torniainen; koenraad devriendt; Jean-Pierre Fryns; Peter Marynen; I Järvelä; S Ala-Mello
Novel PORCN mutations in focal dermal hypoplasia.
Clinical genetics 2009;76(6):535-43.
2009: Victoria Randall; Karen McCue; Catherine Roberts; Vanessa Kyriakopoulou; Sarah Beddow; Angela N Barrett; Francesca Vitelli; Katrina Prescott; Charles Shaw-Smith; koenraad devriendt; Erika Bosman; Georg Steffes; Karen P Steel; Subreena Simrick; M Albert Basson; Elizabeth Illingworth; Peter J Scambler
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.
The Journal of clinical investigation 2009;119(11):3301-10.
2009: Bernard Thienpont; Eftychia Dimitriadou; Katerina Theodoropoulos; Jeroen Breckpot; Helen Fryssira; Sophia Kitsiou-Tzeli; Meropi Tzoufi; Joris R Vermeesch; Maria Syrrou; koenraad devriendt
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.
European journal of medical genetics 2009;52(6):393-7.
2009: Jeroen Breckpot; Bernard Thienpont; Christine Vanhole; Els Van Rossem; Dominique Van Schoubroeck; Jean-Pierre Fryns; Lieven Lagae; Gunnar Buyse; koenraad devriendt
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
Clinical dysmorphology 2009;18(4):195-200.
2009: Willem Proesmans; Maria Van Dyck; koenraad devriendt
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009;24(4):1335-8.
2009: F D Hannes; A J Sharp; H C Mefford; T de Ravel; C A Ruivenkamp; M H Breuning; Jean-Pierre Fryns; koenraad devriendt; G Van Buggenhout; A Vogels; H Stewart; Raoul Hennekam; Gregory Cooper; R Regan; S J L Knight; Evan E Eichler; Joris R Vermeesch
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Journal of medical genetics 2009;46(4):223-32.
2009: Thomy J L de Ravel; Liliane Ameye; Katleen Ballon; Martine Borghgraef; Joris R Vermeesch; koenraad devriendt
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
European journal of medical genetics 2009;52(2-3):145-7.
2009: Liesbeth Backx; Berten Ceulemans; Joris Robert Vermeesch; koenraad devriendt; Hilde Van Esch
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.
European journal of human genetics : EJHG 2009;17(3):378-82.
2009: Nicole M C Maas; Cindy Melotte; Damien Sanlaville; C T R M Schrander-Stumpel; Tom Van de Putte; koenraad devriendt; Boyan Dimitrov; Annick Francis; Jean-Pierre Fryns; David Genevieve; Stanislas LYONNET; Joris R Vermeesch
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
BMJ case reports 2009;2009():.
2009: Daniela Nitsch; Léon-Charles Tranchevent; Bernard Thienpont; Lieven Thorrez; Hilde Van Esch; koenraad devriendt; Yves Moreau
Network analysis of differential expression for the identification of disease-causing genes.
PloS one 2009;4(5):e5526.
2009: John C Carey; M Michael Cohen; Cynthia J R Curry; koenraad devriendt; Lewis B Holmes; Alain Verloes
Elements of morphology: standard terminology for the lips, mouth, and oral region.
American journal of medical genetics. Part A 2009;149A(1):77-92.
2008: Heather C Mefford; andrew sharp; Carl Baker; Andy Itsara; Zhaoshi Jiang; Karen Buysse; Shuwen Huang; Viv K Maloney; John A Crolla; Diana Baralle; Amanda Collins; Catherine Mercer; Koen Norga; Thomy de Ravel; koenraad devriendt; Ernie M H F Bongers; Nicole de Leeuw; William Reardon; stefania gimelli; Frederique Bena; Raoul Hennekam; Alison Male; Lorraine Gaunt; Jill Clayton-Smith; Ingrid Simonic; Soo Mi Park; Sarju G Mehta; Serena Nik-Zainal; C Geoffrey Woods; Helen V Firth; Georgina Parkin; Marco Fichera; Santina Reitano; Mariangela Lo Giudice; Kelly E Li; Iris Casuga; Adam Broomer; Bernard Conrad; Markus Schwerzmann; Lorenz Räber; Sabina Gallati; Pasquale Striano; Antonietta Coppola; John L Tolmie; Edward S Tobias; Chris Lilley; Lluis Armengol; Yves Spysschaert; Patrick Verloo; Anja De Coene; Linde Goossens; Geert Mortier; Frank Speleman; Ellen van Binsbergen; Marcel R Nelen; Ron Hochstenbach; Martin Poot; Louise Gallagher; Michael Gill; Jon McClellan; Mary-Claire King; Regina Regan; Cindy Skinner; Roger E Stevenson; Stylianos Antonarakis; Caifu Chen; Xavier Estivill; Björn Menten; Giorgio Gimelli; Susan Gribble; Stuart Schwartz; James S Sutcliffe; Tom Walsh; Samantha J L Knight; Jonathan Sebat; Corrado Romano; Charles E Schwartz; Joris Veltman; Bert B A de Vries; Joris R Vermeesch; John C K Barber; Lionel Willatt; May Tassabehji; Evan E Eichler
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
The New England journal of medicine 2008;359(16):1685-99.
2008: K Buysse; A Crepel; B Menten; F Pattyn; Francesca Antonacci; Joris Veltman; L A Larsen; Z Tümer; A de Klein; I van de Laar; koenraad devriendt; G Mortier; F Speleman
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.
Journal of medical genetics 2008;45(10):672-8.
2008: Dries Castermans; Bernard Thienpont; Karolien Volders; An Crepel; Joris R Vermeesch; Connie T Schrander-Stumpel; Wim J M Van De Ven; Jean Steyaert; John W M Creemers; koenraad devriendt
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
European journal of human genetics : EJHG 2008;16(10):1187-92.
2008: Jeroen Breckpot; Yoshihisa Takiyama; Bernard Thienpont; Steven Van Vooren; Joris R Vermeesch; Els Ortibus; koenraad devriendt
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
European journal of human genetics : EJHG 2008;16(9):1050-4.
2008: Ingele Casteels; PJ Casaer; Marc Gewillig; Ann Swillen; koenraad devriendt
Ocular findings in children with a microdeletion in chromosome 22q11.2.
European journal of pediatrics 2008;167(7):751-5.
2008: Bernard Thienpont; Jeroen Breckpot; Joris R Vermeesch; Marc Gewillig; koenraad devriendt
A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications.
European journal of medical genetics 2008;51(3):219-25.
2008: Anita Rauch; Christian T Thiel; Detlev Schindler; U Wick; Yanick J Crow; Arif B Ekici; Anthonie J van Essen; Timm Goecke; Lihadh Al-Gazali; Krystyna H Chrzanowska; Christiane Zweier; Han G Brunner; Kristin Becker; Cynthia J Curry; Bruno Dallapiccola; koenraad devriendt; Arnd Dörfler; Esther Kinning; André Megarbane; Peter Meinecke; Robert K Semple; Stephanie Spranger; Annick Toutain; Richard C Trembath; Egbert Voss; Louise Wilson; Raoul Hennekam; Francis de Zegher; Helmuth-Günther Dörr; André Reis
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Science (New York, N.Y.) 2008;319(5864):816-9.
2008: S Swinnen; I Bailleul-Forestier; S Arte; P Nieminen; koenraad devriendt; Carine Carels
Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia.
Orthodontics & craniofacial research 2008;11(1):24-31.
2008: Ellen Denayer; Annabel Parret; Magdalena Chmara; Suzanne Schubbert; Annick Vogels; koenraad devriendt; JP Frijns; Vladimir Rybin; T J L de Ravel; Kevin Shannon; Jan Cools; Klaus Scheffzek; Eric Legius
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
Human mutation 2008;29(2):232-9.
2008: Nicole M C Maas; Griet Van Buggenhout; F Hannes; Bernard Thienpont; Damien Sanlaville; K Kok; A Midro; J Andrieux; Britt-Marie Anderlid; Jacqueline Schoumans; R Hordijk; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
Journal of medical genetics 2008;45(2):71-80.
2008: I Witters; I Balikova; M Cannie; koenraad devriendt; L De Catte; J P Fryns
Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21).
Genetic counseling (Geneva, Switzerland) 2008;19(4):443-6.
2008: Bert De Smedt; Ann Swillen; koenraad devriendt; Jean-Pierre Fryns; Lieven Verschaffel; Bart Boets; Pol Ghesquière
Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2008;19(1):71-94.
2008: Irina Balikova; Kevin Martens; Cindy Melotte; Mustapha Amyere; Steven Van Vooren; Yves Moreau; David Vetrie; Heike Fiegler; Nigel P Carter; Thomas Liehr; Miikka Vikkula; Gert Matthijs; Jean-Pierre Fryns; Ingele Casteels; koenraad devriendt; Joris R Vermeesch
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
American journal of human genetics 2008;82(1):181-7.
2008: Bert Callewaert; Andy Willaert; W S Kerstjens-Frederikse; Julie De Backer; koenraad devriendt; B Albrecht; M A Ramos-Arroyo; Martine Doco-Fenzy; Raoul Hennekam; Reed E Pyeritz; O N Krogmann; G Gillessen-kaesbach; E L Wakeling; S Nik-zainal; C Francannet; Pierre Mauran; C Booth; M Barrow; R Dekens; Bart Loeys; Paul J Coucke; Anne De Paepe
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Human mutation 2008;29(1):150-8.
2007: Ingrid Van de Laar; Dennis Dooijes; Lies Hoefsloot; Marleen Simon; Jeannette Hoogeboom; koenraad devriendt
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.
American journal of medical genetics. Part A 2007;143A(22):2712-5.
2007: Joris R Vermeesch; Heike Fiegler; Nicole de Leeuw; Karoly Szuhai; Jacqueline Schoumans; Roberto Ciccone; Frank Speleman; Anita Rauch; Jill Clayton-Smith; Conny van Ravenswaaij-Arts; Damien Sanlaville; Philippos C Patsalis; Helen V Firth; koenraad devriendt; Orsetta Zuffardi
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
European journal of human genetics : EJHG 2007;15(11):1105-14.
2007: Bernard Thienpont; Luc Mertens; T J L de Ravel; Benedicte Eyskens; Derize Boshoff; Nicole M C Maas; Jean-Pierre Fryns; Marc Gewillig; Joris R Vermeesch; koenraad devriendt
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.
European heart journal 2007;28(22):2778-84.
2007: Bernard Thienpont; T J L de Ravel; Hilde Van Esch; Dominique Van Schoubroeck; Philippe Moerman; Joris R Vermeesch; Jean-Pierre Fryns; Guy Froyen; Caroline Lacoste; Catherine Badens; koenraad devriendt
Partial duplications of the ATRX gene cause the ATR-X syndrome.
European journal of human genetics : EJHG 2007;15(10):1094-7.
2007: Guy Froyen; Hilde Van Esch; Marijke Bauters; Karen Hollanders; Suzanna G M Frints; Joris R Vermeesch; koenraad devriendt; Jean-Pierre Fryns; Peter Marynen
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.
Human mutation 2007;28(10):1034-42.
2007: Irina Balikova; Björn Menten; T J L de Ravel; Cédric Le Caignec; Bernard Thienpont; Montse Urbina; Martine Doco-Fenzy; Marjan de Rademaeker; Geert R Mortier; Frank Kooy; Janneke van den Ende; koenraad devriendt; Jean-Pierre Fryns; Frank Speleman; Joris R Vermeesch
Subtelomeric imbalances in phenotypically normal individuals.
Human mutation 2007;28(10):958-67.
2007: Bernard Thienpont; Jeroen Breckpot; Maureen Holvoet; Joris R Vermeesch; koenraad devriendt
A microduplication of CBP in a patient with mental retardation and a congenital heart defect.
American journal of medical genetics. Part A 2007;143A(18):2160-4.
2007: Bert De Smedt; koenraad devriendt; Jean-Pierre Fryns; Annick Vogels; Marc Gewillig; Ann Swillen
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update.
Journal of intellectual disability research : JIDR 2007;51(Pt 9):666-70.
2007: I Witters; P Debois; Jean-Pierre Fryns; koenraad devriendt; M Gewillig
A case of left isomerism with early fetal decompensation.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2007;30(3):363-4.
2007: Nicole M C Maas; Tom Van de Putte; Cindy Melotte; Annick Francis; C T R M Schrander-Stumpel; Damien Sanlaville; David Genevieve; Stanislas LYONNET; Boyan Dimitrov; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Journal of medical genetics 2007;44(9):562-9.
2007: Philippe Debeer; Valerie Race; Marc Gewillig; koenraad devriendt; Jean-Pierre Frijns
Novel TBX5 mutations in patients with Holt-Oram syndrome.
Clinical orthopaedics and related research 2007;462():20-6.
2007: Sibel Kantarci; Lihadh Al-Gazali; R Sean Hill; Dian Donnai; Graeme C M Black; Eric Bieth; Nicolas Chassaing; Didier Lacombe; koenraad devriendt; Ahmad Teebi; Maria Loscertales; Caroline Robson; Tianming Liu; David T MacLaughlin; Kristin M Noonan; Meaghan K Russell; Christopher Walsh; Patricia K Donahoe; Barbara R Pober
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nature genetics 2007;39(8):957-9.
2007: Philippe Debeer; koenraad devriendt; Luc De Smet; Thomy Deravel; Antonio Gonzalez-Meneses; Karl-Heinz Grzeschik; Jean-Pierre Fryns
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.
Journal of children's orthopaedics 2007;1(2):143-50.
2007: T J L de Ravel; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).
European journal of pediatrics 2007;166(7):637-43.
2007: Weining Lu; Fabiola Quintero-Rivera; Yanli Fan; Fowzan S Alkuraya; Diana J Donovan; Qiongchao Xi; Annick Turbe-Doan; Qing-Gang Li; Craig G Campbell; Alan L Shanske; Elliott H Sherr; Ayesha Ahmad; Roxana Peters; Bénédict Rilliet; Paloma Parvex; Alexander G Bassuk; David J Harris; Heather Ferguson; Chantal Kelly; Christopher Walsh; Richard M Gronostajski; koenraad devriendt; Anne Higgins; Azra H Ligon; Bradley J Quade; Cynthia C Morton; James Gusella; Richard L Maas
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PLoS genetics 2007;3(5):e80.
2007: Christiane Zweier; Maarit Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton-Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Gohring; koenraad devriendt; T J L de Ravel; Emilia K Bijlsma; Raoul Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; André Reis; Peter Nurnberg; Anita Rauch
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
American journal of human genetics 2007;80(5):994-1001.
2007: Bernard Thienpont; Luc Mertens; Gunnar Buyse; Joris R Vermeesch; koenraad devriendt
Left-ventricular non-compaction in a patient with monosomy 1p36.
European journal of medical genetics 2007;50(3):233-6.
2007: Dries Castermans; Joris R Vermeesch; Jean-Pierre Fryns; Jean Steyaert; Wim J M Van De Ven; John W M Creemers; koenraad devriendt
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.
European journal of human genetics : EJHG 2007;15(4):422-31.
2007: Bert De Smedt; Ann Swillen; koenraad devriendt; Jean-Pierre Fryns; Lieven Verschaffel; Pol Ghesquière
Mathematical disabilities in children with velo-cardio-facial syndrome.
Neuropsychologia 2007;45(5):885-95.
2007: Katrijn Van Aken; Bert De Smedt; Annelies Van Roie; Marc Gewillig; koenraad devriendt; Jean-Pierre Fryns; Johan Simons; Ann Swillen
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).
Developmental medicine and child neurology 2007;49(3):210-3.
2007: Ingrid Witters; Mieke Cannie; P Casaer; koenraad devriendt; J-P Fryns
Prenatal diagnosis of schizencephaly after inhalation of organic solvents.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2007;29(3):356-7.
2007: Marja Majava; Kristien P Hoornaert; Deborah Bartholdi; Mieke C Bouma; Katelijne Bouman; Marta Carrera; koenraad devriendt; Jane Hurst; Georgios Kitsos; Dunja Niedrist; Michael B Petersen; Debbie Shears; Irene Stolte-Dijkstra; Johanna M van Hagen; Leena Ala-Kokko; Minna Männikkö; Geert R Mortier
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
American journal of medical genetics. Part A 2007;143(3):258-64.
2007: Nicole M C Maas; Steven Van Vooren; F Hannes; Griet Van Buggenhout; M Mysliwiec; Yves Moreau; K Fagan; A Midro; Ozlem Engiz; Sevim Balci; M J Parker; Y Sznajer; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.
Genetic counseling (Geneva, Switzerland) 2007;18(4):357-65.
2007: Catherine Dodé; Corinne Fouveaut; Geert Mortier; Sandra Janssens; Jérôme Bertherat; Jacques Mahoudeau; Marie-Laure Kottler; Christine Chabrolle; Antoine Gancel; Inge François; koenraad devriendt; Slawomir Wolczynski; Michel Pugeat; Alfons Pineiro-Garcia; Arnaud Murat; Philippe Bouchard; Jacques Young; Marc Delpech; Jean-Pierre Hardelin
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
Human mutation 2007;28(1):97-8.
2006: Ilse Gutierrez-Roelens; Luc De Roy; Caroline Ovaert; Thierry Sluysmans; koenraad devriendt; Han G Brunner; Miikka Vikkula
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
European journal of human genetics : EJHG 2006;14(12):1313-6.
2006: Hilde Peeters; Marianne L Voz; Kristin Verschueren; Bart De Cat; Hélène Pendeville; Bernard Thienpont; Ann Schellens; John W Belmont; Guido David; Wim J M Van De Ven; Jean-Pierre Fryns; Marc Gewillig; Danny Huylebroeck; Bernard Peers; koenraad devriendt
Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling.
Human molecular genetics 2006;15(22):3369-77.
2006: Hilde Peeters; koenraad devriendt
Human laterality disorders.
European journal of medical genetics 2006;49(5):349-62.
2006: Björn Menten; Nicole M C Maas; Bernard Thienpont; Karen Buysse; Jo Vandesompele; Cindy Melotte; T J L de Ravel; Steven Van Vooren; Irina Balikova; liesbeth backx; S Janssens; Anne De Paepe; Bart De Moor; Yves Moreau; Peter Marynen; Jean-Pierre Fryns; Geert R Mortier; koenraad devriendt; Frank Speleman; Joris R Vermeesch
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
Journal of medical genetics 2006;43(8):625-33.
2006: Bernard Thienpont; Joris R Vermeesch; koenraad devriendt
Anterior cervical hypertrichosis and mental retardation.
Clinical dysmorphology 2006;15(3):189-90.
2006: Ute Moog; Kees E P van Roozendaal; Eric E J Smeets; Demis Tserpelis; koenraad devriendt; Griet Van Buggenhout; Jean-Pierre Frijns; C T R M Schrander-Stumpel
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
Brain & development 2006;28(5):305-10.
2006: Linde Goossens; Sandra Janssens; Valerie Meersschaut; Hilde Peeters; Hugo Devlieger; koenraad devriendt
Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?
Clinical dysmorphology 2006;15(2):71-4.
2006: Trine E Prescott; koenraad devriendt; Ben Hamel; Marcel C Pasch; Hilde Peeters; Vincent Vander Poorten; Ola Tallerås
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.
European journal of medical genetics 2006;49(2):135-9.
2006: Wiktor Borozdin; Katharina Steinmann; Beate Albrecht; Armand Bottani; koenraad devriendt; Michael Leipoldt; Juergen Kohlhase
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
Human mutation 2006;27(2):211-2.
2006: T J L de Ravel; Irina Balikova; Bernard Thienpont; F Hannes; Nicole M C Maas; Jean-Pierre Fryns; koenraad devriendt; Joris R Vermeesch
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.
Cytogenetic and genome research 2006;115(3-4):225-30.
2006: Bert De Smedt; Ann Swillen; koenraad devriendt; Jean-Pierre Fryns; Lieven Verschaffel; P Ghesquiere
Mathematical disabilities in young primary school children with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2006;17(3):259-80.
2006: Bernard Thienpont; Marc Gewillig; Jean-Pierre Fryns; koenraad devriendt; Joris R Vermeesch
Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies.
Cytogenetic and genome research 2006;114(3-4):338-41.
2006: I B Mathijssen; V Cossey; J P Fryns; L De Smet; koenraad devriendt
Unilateral symbrachydactyly of the foot.
Genetic counseling (Geneva, Switzerland) 2006;17(1):77-80.
2005: Ann Swillen; Hilde Feys; Tamara Adriaens; Loes Nelissen; Luc Mertens; Marc Gewillig; koenraad devriendt; Jean-Pierre Fryns
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.
Developmental medicine and child neurology 2005;47(12):797-802.
2005: Santhosh Girirajan; Louis J Elsas; koenraad devriendt; Sarah H Elsea
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
Journal of medical genetics 2005;42(11):820-8.
2005: Philippe Debeer; Hilde Van Esch; Christel Huysmans; E Pijkels; Luc De Smet; Wim Van de Ven; koenraad devriendt; Jean-Pierre Fryns
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
European journal of medical genetics 2005;48(4):377-87.
2005: Ingele Casteels; koenraad devriendt
Unilateral Peters' anomaly in a patient with DiGeorge syndrome.
Journal of pediatric ophthalmology and strabismus 2005;42(5):311-3.
2005: A Sondakh; Willem Daenen; Marc Gewillig; koenraad devriendt; Bart Meyns
Right aortic arch with vascular ring in one monozygotic twin.
The Journal of thoracic and cardiovascular surgery 2005;130(3):883-4.
2005: Anne Debeer; E Steenkiste; koenraad devriendt; Marie-Anne Morren
Scalp skin lesion in Turner syndrome: more than lymphoedema?
Clinical dysmorphology 2005;14(3):149-50.
2005: Hilde Van Esch; Karen Hollanders; Liesbeth Badisco; Cindy Melotte; Paul van Hummelen; Joris R Vermeesch; koenraad devriendt; Jean-Pierre Fryns; Peter Marynen; Guy Froyen
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.
Human molecular genetics 2005;14(13):1795-803.
2005: D Lambrechts; koenraad devriendt; Deborah A Driscoll; Elizabeth Goldmuntz; M Gewillig; Robert Francois Vlietinck; D Collen; P Carmeliet
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study.
Journal of medical genetics 2005;42(6):519-22.
2005: Tom Rossenbacker; E Schollen; Cuno Kuipéri; T J L de Ravel; koenraad devriendt; G Matthijs; Désiré Collen; Hein Heidbüchel; Peter Carmeliet
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
Journal of medical genetics 2005;42(5):e29.
2005: Deepak Kamnasaran; Chih-Ping Chen; koenraad devriendt; Lakshmi Mehta; Diane W Cox
Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.
Genomics 2005;85(5):608-21.
2005: Lieve Sevenants; Carine Wouters; Annachiara De Sandre-Giovannoli; Hugo Devlieger; koenraad devriendt; Joost J van den Oord; Karel Marien; Nicolas Lévy; Marie-Anne Morren
Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.
European journal of pediatrics 2005;164(5):283-6.
2005: Philippe Debeer; Christel Huysmans; Wim J M Van De Ven; Jean-Pierre Fryns; koenraad devriendt
Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.
American journal of medical genetics. Part A 2005;134(3):318-20.
2005: Hilde Van Esch; Ginevra Zanni; Maureen Holvoet; Martine Borghgraef; Jamel Chelly; Jean-Pierre Fryns; koenraad devriendt
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
European journal of medical genetics 2005;48(2):145-52.
2005: Christiane Zweier; Christian T Thiel; Andreas Dufke; Yanick J Crow; Peter Meinecke; Mohnish Suri; Sirpa Ala-Mello; Frits Beemer; Sergio Bernasconi; Paolo Bianchi; Andrea Bier; koenraad devriendt; Boyan Dimitrov; Helen Firth; Renata C Gallagher; Livia Garavelli; Gabriele Gillessen-Kaesbach; Louanne Hudgins; Helena Kääriäinen; Susan Karstens; Ian Krantz; Anca Mannhardt; Livija Medne; Jürgen Mücke; Maria Kibaek; Lotte Nylandsted Krogh; Maarit Peippo; Olaf Rittinger; Solveig Schulz; Susan L Schelley; I Karen Temple; Nick R Dennis; Marjo S Van der Knaap; Patricia Wheeler; Baruch Yerushalmi; Martin Zenker; Heide Seidel; A Lachmeijer; Trine Prescott; Cornelia Kraus; R Brian Lowry; Anita Rauch
Clinical and mutational spectrum of Mowat-Wilson syndrome.
European journal of medical genetics 2005;48(2):97-111.
2005: Joris R Vermeesch; Cindy Melotte; Guy Froyen; Steven Van Vooren; Binita Dutta; Nicole M C Maas; Stefan Vermeulen; Björn Menten; Frank Speleman; Bart De Moor; Paul van Hummelen; Peter Marynen; Jean-Pierre Fryns; koenraad devriendt
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2005;53(3):413-22.
2005: Philippe Debeer; koenraad devriendt
Early recognition of basal cell naevus syndrome.
European journal of pediatrics 2005;164(3):123-5.
2005: Tom Rossenbacker; Kanigula Mubagwa; Roselie J Jongbloed; Johan Vereecke; koenraad devriendt; Marc Gewillig; Edward Carmeliet; Désiré Collen; Hein Heidbüchel; Peter Carmeliet
Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome.
Circulation 2005;111(8):961-8.
2005: koenraad devriendt
Hydatidiform mole and triploidy: the role of genomic imprinting in placental development.
Human reproduction update 2005;11(2):137-42.
2005: Peter Stiers; Ann Swillen; Bert De Smedt; Lieven Lagae; koenraad devriendt; Emiliano D'Agostino; Stefan Sunaert; Andjean-Pierre Fryns
Atypical neuropsychological profile in a boy with 22q11.2 Deletion Syndrome.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2005;11(1):87-108.
2005: koenraad devriendt; Ann Swillen; Ingeborg Stalmans; Ingele Casteels
Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation or deletion in chromosome 22q11.2?
American journal of medical genetics. Part A 2005;132A(3):340-1.
2005: Inge B Mathijssen; Jean-Pierre Fryns; koenraad devriendt; Yves Sznajer; Maurice Van Eygen
Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome.
American journal of medical genetics. Part A 2005;132A(3):338-9.
2005: Boyan Dimitrov; Irina Balikova; Irena Bradinova; D Zahariev; A Popova; Emil Simeonov; L De Smet; koenraad devriendt; Jean-Pierre Fryns
The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
Genetic counseling (Geneva, Switzerland) 2005;16(2):181-6.
2005: Erna Claes; Lieve Denayer; Gerry Evers-Kiebooms; Andrea Boogaerts; Kristien Philippe; Sabine Tejpar; koenraad devriendt; Eric Legius
Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test.
Genetic testing 2005;9(1):54-65.
2005: Joyce So; Vanessa Suckow; Zofia Kijas; Vera Kalscheuer; Bettina Moser; Jennifer Winter; Marieke Baars; Helen V Firth; Peter Lunt; Ben Hamel; Peter Meinecke; Claude Moraine; Sylvie Odent; Albert Schinzel; Jasper van der Smagt; koenraad devriendt; Beate Albrecht; Gabriele Gillessen-Kaesbach; Ineke van der Burgt; Fred Petrij; Laurence Faivre; Julie McGaughran; Fiona McKenzie; John M Opitz; Timothy Cox; Susann Schweiger
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
American journal of medical genetics. Part A 2005;132A(1):1-7.
2004: koenraad devriendt; Ann Swillen; Isabelle Schatteman; Marc Lemmerling; Ingeborg Dhooge
Middle and inner ear malformations in velocardiofacial syndrome.
American journal of medical genetics. Part A 2004;131(2):225-6.
2004: koenraad devriendt; J P Fryns; C Vanhole; G Bogaert
Multiple circumferential skin creases: another sign of genetic mosaicism?
American journal of medical genetics. Part A 2004;131(2):219-20.
2004: Tom Rossenbacker; Sheila J Carroll; Huajun Liu; Cuno Kuipéri; T J L de Ravel; koenraad devriendt; Peter Carmeliet; Robert Kass; Hein Heidbüchel
Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.
Heart rhythm : the official journal of the Heart Rhythm Society 2004;1(5):610-5.
2004: Morten Duno; Hanne Hove; Maria Kirchhoff; koenraad devriendt; Marianne Schwartz
Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.
Human genetics 2004;115(6):459-67.
2004: koenraad devriendt; Jean-Pierre Fryns
Diagnostic evaluation for asymmetry: consider genetic mosaicism.
European journal of pediatrics 2004;163(10):634-5.
2004: Griet Van Buggenhout; Cindy Melotte; Binita Dutta; Guy Froyen; Paul van Hummelen; Peter Marynen; Gert Matthijs; T J L de Ravel; koenraad devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
Journal of medical genetics 2004;41(9):691-8.
2004: Philippe Debeer; Jean-Pierre Fryns; koenraad devriendt; E Baten; Christel Huysmans; Wim J M Van De Ven
A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses.
American journal of medical genetics. Part A 2004;128A(4):439-40.
2004: Stijn De Muynck; E Schollen; G Matthijs; Anna Verdonck; koenraad devriendt; Carine Carels
A novel MSX1 mutation in hypodontia.
American journal of medical genetics. Part A 2004;128A(4):401-3.
2004: Annalisa Verri; Paola Maraschio; koenraad devriendt; Carla Uggetti; Emanuela Spadoni; Edward Haeusler; Antonio Federico
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.
Annales de génétique 2004;47(3):281-7.
2004: Annick Vogels; Marc De Hert; Mie-Jef Descheemaeker; Veerle Govers; koenraad devriendt; Eric Legius; P Prinzie; Jean-Pierre Fryns
Psychotic disorders in Prader-Willi syndrome.
American journal of medical genetics. Part A 2004;127A(3):238-43.
2004: koenraad devriendt; Ann Swillen; Marc Gewillig; Jean-Pierre Fryns; Pierre Moens; Luc De Smet
Velocardiofacial syndrome presenting as distal arthrogryposis.
European journal of pediatrics 2004;163(6):329-30.
2004: Dries Castermans; Valérie Wilquet; Jean Steyaert; Wim Van de Ven; Jean-Pierre Fryns; koenraad devriendt
Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.
Autism : the international journal of research and practice 2004;8(2):141-61.
2004: Hilde Van Esch; Karine Poirier; F de Zegher; Maureen Holvoet; Thierry Bienvenu; Jamel Chelly; koenraad devriendt; J-P Fryns
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
Clinical genetics 2004;65(6):503-5.
2004: Anita Rauch; koenraad devriendt; A Koch; Ralf Rauch; M Gewillig; Cornelia Kraus; M Weyand; Helmut Singer; A Reis; Michael Hofbeck
Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.
Journal of medical genetics 2004;41(4):e40.
2004: Annick Vogels; Jenneke Van Den Ende; Kathelijn Keymolen; Geert Mortier; koenraad devriendt; Eric Legius; Jean-Pierre Fryns
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.
European journal of human genetics : EJHG 2004;12(3):238-40.
2004: Alla Skapenko; Jan Leipe; Uwe Niesner; koenraad devriendt; Rolf Beetz; Andreas Radbruch; Joachim R Kalden; Peter E Lipsky; Hendrik Schulze-Koops
GATA-3 in human T cell helper type 2 development.
The Journal of experimental medicine 2004;199(3):423-8.
2004: koenraad devriendt; Joris R Vermeesch
Chromosomal phenotypes and submicroscopic abnormalities.
Human genomics 2004;1(2):126-33.
2004: T Lukusa; Joris R Vermeesch; Maureen Holvoet; Jean-Pierre Fryns; koenraad devriendt
Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
Genetic counseling (Geneva, Switzerland) 2004;15(3):293-301.
2004: Boyan Dimitrov; koenraad devriendt; Nicole M C Maas; Joris R Vermeesch; D Zahariev; D Avdjieva; A Popova; D A A Popova; Jean-Pierre Fryns; Emil Simeonov
Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23).
Genetic counseling (Geneva, Switzerland) 2004;15(2):191-7.
2004: P Prinzie; Ann Swillen; B Maes; Patrick Onghena; Annick Vogels; A Van Hooste; koenraad devriendt; Cornelis F M Van Lieshout; Jean-Pierre Fryns
Parenting, family contexts, and personality characteristics in youngsters with VCFS.
Genetic counseling (Geneva, Switzerland) 2004;15(2):141-57.
2004: koenraad devriendt; L Vandenbossche; J P Fryns
Unilateral limb reduction defect and lumbar appendage: disorganisation-like syndrome?
Genetic counseling (Geneva, Switzerland) 2004;15(1):103-4.
2003: Francois X Lemaire; Louw Feenstra; Patrick Huygen; Erik Fransen; koenraad devriendt; Guy Van Camp; Greet Vantrappen; Cor W R J Cremers; P Ashley Wackym; John C Koss
Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2003;24(5):743-8.
2003: Philippe Debeer; Hilde Peeters; S Driess; L De Smet; K Freese; G Matthijs; Dorothea Bornholdt; koenraad devriendt; Karl-Heinz Grzeschik; Jean-Pierre Fryns; M Kalff-Suske
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
American journal of medical genetics. Part A 2003;120A(1):49-58.
2003: Suzanna G M Frints; Lin Jun; Jean-Pierre Fryns; koenraad devriendt; Rudi Teulingkx; Lut Van den Berghe; Bernice De Vos; Martine Borghgraef; Jamel Chelly; Vincent des Portes; Hans van Bokhoven; Ben Hamel; Hans-Hilger Ropers; Vera Kalscheuer; Martine Raynaud; Claude Moraine; Peter Marynen; Guy Froyen
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
American journal of medical genetics. Part A 2003;119A(3):367-74.
2003: Philippe Debeer; E Pykels; J Lammens; koenraad devriendt; Jean-Pierre Fryns
Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family.
American journal of medical genetics. Part A 2003;119A(2):188-93.
2003: Alexandre Irrthum; koenraad devriendt; David Chitayat; Gert Matthijs; Conrad Glade; Peter M Steijlen; Jean-Pierre Fryns; Maurice A M van Steensel; Miikka Vikkula
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
American journal of human genetics 2003;72(6):1470-8.
2003: Dries Castermans; Valérie Wilquet; E Parthoens; Christel Huysmans; J Steyaert; L Swinnen; Jean-Pierre Fryns; Wim Van de Ven; koenraad devriendt
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.
Journal of medical genetics 2003;40(5):352-6.
2003: Hilde Peeters; Philippe Debeer; Amos Bairoch; Valérie Wilquet; Christel Huysmans; E Parthoens; Jean-Pierre Fryns; Marc Gewillig; Y Nakamura; N Niikawa; Wim Van de Ven; koenraad devriendt
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse.
Human genetics 2003;112(5-6):573-80.
2003: Jennifer Winter; Tanja Lehmann; Vanessa Suckow; Zofia Kijas; Andreas E Kulozik; Vera Kalscheuer; Ben Hamel; koenraad devriendt; John M Opitz; Steffen Lenzner; Hans-Hilger Ropers; Susann Schweiger
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Human genetics 2003;112(3):249-54.
2003: Gabriel Stefan Gebhardt; koenraad devriendt; Reinhilde Thoelen; Ann Swillen; Elly Pijkels; Jean-Pierre Fryns; Joris R Vermeesch; Marc Gewillig
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.
European journal of human genetics : EJHG 2003;11(2):109-11.
2003: Anne Wauters; Tom Dejagere; koenraad devriendt; Yves Vanrenterghem; Bart Maes
Triangular face and vascular malformation. The links to renal failure.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2003;18(2):436-9.
2003: Ingeborg Stalmans; Diether Lambrechts; Frederik De Smet; Sandra Jansen; Jian Wang; Sunit Maity; Paige Kneer; Maren von der Ohe; Ann Swillen; Christa Maes; Marc Gewillig; Daniel G M Molin; Peter Hellings; Thurid Boetel; Maartin Haardt; Veerle Compernolle; Mieke Dewerchin; Stephane Plaisance; Robert Francois Vlietinck; Beverly Emanuel; Adriana C Gittenberger-de Groot; Peter Scambler; Bernice E Morrow; Deborah A Driscol; Lieve Moons; Camila V Esguerra; Geert Carmeliet; Annett Behn-Krappa; koenraad devriendt; Désiré Collen; Simon J Conway; Peter Carmeliet
VEGF: a modifier of the del22q11 (DiGeorge) syndrome?
Nature medicine 2003;9(2):173-82.
2003: Elfride De Baere; Diane Beysen; Christine Oley; Birgit Lorenz; Julie Cocquet; Petra De Sutter; koenraad devriendt; Michael Dixon; Marc Fellous; Jean-Pierre Fryns; Arturo Garza; Christoffer Jonsrud; Pasi A Koivisto; Amanda Krause; Bart P Leroy; Françoise Meire; Astrid Plomp; Lionel Van Maldergem; Anne De Paepe; Reiner A Veitia; Ludwine MESSIAEN
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
American journal of human genetics 2003;72(2):478-87.
2003: S Goethals; I Hoffman; koenraad devriendt; I Casteels
Heterochromia of the irides and a motility disorder of the oesophagus: a coincidence or a defect during embryogenesis?
Bulletin de la Société belge d'ophtalmologie 2003;(289):73-7.
2003: T Lukusa; Maureen Holvoet; Joris R Vermeesch; koenraad devriendt; Jean-Pierre Fryns
Partial monosomy 11q and trisomy 12q: variable expression in two siblings.
Genetic counseling (Geneva, Switzerland) 2003;14(2):155-64.
2003: Greet Vantrappen; Nathalie Rommel; Ann Swillen; Cor W R J Cremers; Jean-Pierre Fryns; koenraad devriendt
Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations.
Acta oto-rhino-laryngologica Belgica 2003;57(2):101-6.
2003: Bert De Smedt; Ann Swillen; Pol Ghesquière; koenraad devriendt; Jean-Pierre Fryns
Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence.
Genetic counseling (Geneva, Switzerland) 2003;14(1):15-29.
2003: A Vogels; G Matthijs; E Legius; koenraad devriendt; J-P Fryns
Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome.
Journal of medical genetics 2003;40(1):72-3.
2002: Joris R Vermeesch; E Baten; Jean-Pierre Fryns; koenraad devriendt
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.
Clinical genetics 2002;62(5):415-7.
2002: Philippe Debeer; R Mols; Christel Huysmans; koenraad devriendt; Wim J M Van De Ven; Jean-Pierre Fryns
Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11).
Clinical genetics 2002;62(5):410-4.
2002: Liesbeth Spruijt; koenraad devriendt; Jos P M Offermans; Sjoerd Bulstra; C T R M Schrander-Stumpel
VATER--tibia aplasia association: report on two patients.
Clinical dysmorphology 2002;11(4):283-7.
2002: Philippe Debeer; T J L de Ravel; koenraad devriendt; Jean-Pierre Fryns; Christel Huysmans; Wim J M Van De Ven
Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects.
American journal of medical genetics 2002;111(4):455-6.
2002: Petros Syrris; Kirsten Heathcote; Romeo Carrozzo; koenraad devriendt; Nursel H Elçioglu; Christine Garrett; Meriel McEntagart; Nicholas D Carter
Human piebaldism: six novel mutations of the proto-oncogene KIT.
Human mutation 2002;20(3):234.
2002: koenraad devriendt; Jean-Pierre Fryns; Francis Lemmens; Juergen Kohlhase; Manuela Liebers
Somatic mosaicism and variable expression of Townes-Brocks syndrome.
American journal of medical genetics 2002;111(2):230-1.
2002: Ingrid Witters; Bernard Spitz; C Van Hole; koenraad devriendt; Jean-Pierre Fryns; K Verbek
Resolution of non-immune hydrops in Noonan syndrome with favorable outcome.
American journal of medical genetics 2002;110(4):408-9.
2002: Ilse Gutierrez-Roelens; Thierry Sluysmans; Marc Gewillig; koenraad devriendt; Miikka Vikkula
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.
Human mutation 2002;20(1):75-6.
2002: Thierry Van den Bosch; Dominique Van Schoubroeck; J P Fryns; Gunnar Naulaers; A M Inion; koenraad devriendt
Prenatal findings in a monozygotic twin pregnancy with Costello syndrome.
Prenatal diagnosis 2002;22(5):415-7.
2002: Weimin Bi; Jiong Yan; Pawel Stankiewicz; Sung Sup Park; Katherina Walz; Cornelius F Boerkoel; Lorraine Potocki; Lisa Shaffer; koenraad devriendt; Magorzata J M Nowaczyk; Ken Inoue; James R Lupski
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Genome research 2002;12(5):713-28.
2002: Annick Vogels; W M A Verhoeven; Siegfried Tuinier; koenraad devriendt; Ann Swillen; Leopold M G Curfs; JP Frijns
The psychopathological phenotype of velo-cardio-facial syndrome.
Annales de génétique 2002;45(2):89-95.
2002: A G-M López; J-P Fryns; koenraad devriendt
MURCS association with duplicated thumb.
Clinical genetics 2002;61(4):308-9.
2002: Greet Vantrappen; Nathalie Rommel; Cor W R J Cremers; Jean-Pierre Fryns; koenraad devriendt
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency.
American journal of medical genetics 2002;108(4):337-8.
2002: Maria Syrrou; Kathelijn Keymolen; koenraad devriendt; Maureen Holvoet; Reinhilde Thoelen; K Verhofstadt; Jean-Pierre Fryns
Glypican 1 gene: good candidate for brachydactyly type E.
American journal of medical genetics 2002;108(4):310-4.
2002: Ingrid Witters; Philippe Moerman; koenraad devriendt; P Braet; Dominique Van Schoubroeck; F André Van Assche; Jean-Pierre Fryns
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type.
American journal of medical genetics 2002;108(1):41-4.
2002: Ingrid Witters; koenraad devriendt; D Spinnewijn; Philippe Moerman; F André Van Assche; Jean-Pierre Fryns
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies.
American journal of medical genetics 2002;107(3):233-6.
2002: P Prinzie; Ann Swillen; Annick Vogels; V Kockuyt; Leopold M G Curfs; Gerbert J T Haselager; Walter Hellinckx; koenraad devriendt; Patrick Onghena; Cornelis F M Van Lieshout; Jean-Pierre Fryns
Personality profiles of youngsters with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2002;13(3):265-80.
2002: T Lukusa; Griet Van Buggenhout; koenraad devriendt; Jean-Pierre Fryns
Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.
Genetic counseling (Geneva, Switzerland) 2002;13(1):1-10.
2002: Annick Vogels; Maureen Holvoet; Mie-Jef Descheemaeker; Jean-Pierre Fryns; koenraad devriendt
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?
Annales de génétique 2002;45(1):1-3.
2002: Greet Vantrappen; Nathalie Rommel; W Wellens; Cor W R J Cremers; Jean-Pierre Fryns; koenraad devriendt
Autosomal dominant isolated velopharyngeal insufficiency.
Clinical genetics 2002;61(1):74-6.
2002: Ingrid Witters; koenraad devriendt; Eric Legius; Gert Matthijs; Dominique Van Schoubroeck; F André Van Assche; Jean-Pierre Fryns
Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH).
Prenatal diagnosis 2002;22(1):29-33.
2001: Ingrid Witters; koenraad devriendt; Philippe Moerman; J Caudron; C Van Hole; Jean-Pierre Fryns
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance.
American journal of medical genetics 2001;104(3):209-13.
2001: N Andreu; Mònica Escarceller; S Feather; koenraad devriendt; A S Wolf; Xavier Estivill; Lauro Sumoy
PALML, a novel paralemmin-related gene mapping on human chromosome 1p21.
Gene 2001;278(1-2):33-40.
2001: Ingrid Witters; Philippe Moerman; M Muenke; F André Van Assche; koenraad devriendt; Eric Legius; Dominique Van Schoubroeck; Jean-Pierre Fryns
Semilobar holoprosencephaly in a 46,XY female fetus.
Prenatal diagnosis 2001;21(10):839-41.
2001: Hilde Peeters; Philippe Debeer; Peter Groenen; Hilde Van Esch; G Vanderlinden; Benedicte Eyskens; Luc Mertens; Marc Gewillig; Wim Van de Ven; Jean-Pierre Fryns; koenraad devriendt
Recurrent involvement of chromosomal region 6q21 in heterotaxy.
American journal of medical genetics 2001;103(1):44-7.
2001: M Genuardi; Martina Klutz; koenraad devriendt; D Caruso; M Stirpe; Dietmar R Lohmann
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.
European journal of human genetics : EJHG 2001;9(9):690-4.
2001: Hilde Van Esch; koenraad devriendt
Transcription factor GATA3 and the human HDR syndrome.
Cellular and molecular life sciences : CMLS 2001;58(9):1296-300.
2001: Elfride De Baere; M J Dixon; Kent W Small; Ethylin Jabs; Bart P Leroy; koenraad devriendt; Yves Gillerot; Geert R Mortier; Françoise Meire; Lionel Van Maldergem; Winnie Courtens; Helle Hjalgrim; S Huang; I Liebaers; Nicole Van Regemorter; P Touraine; V Praphanphoj; Alain Verloes; Nitin Udar; V Yellore; Meenal Chalukya; Svetlana Yelchits; Anne De Paepe; Frédérique Kuttenn; Marc Fellous; Reiner A Veitia; Ludwine MESSIAEN
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
Human molecular genetics 2001;10(15):1591-600.
2001: Kathleen Freson; koenraad devriendt; Gert Matthijs; Achiel Van Hoof; Rita De Vos; Chantal Thys; K Minner; Marc F Hoylaerts; Jos Vermylen; Chris Van Geet
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.
Blood 2001;98(1):85-92.
2001: Ingrid Witters; E Legius; koenraad devriendt; Philippe Moerman; Dominique Van Schoubroeck; A Van Assche; J P Fryns
Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype.
Journal of medical genetics 2001;38(5):336-8.
2001: Suzanna G M Frints; Jean-Pierre Fryns; L Lagae; Maria Syrrou; Peter Marynen; koenraad devriendt
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.
Annales de génétique 2001;44(2):71-6.
2001: Stuart W Knight; Tom Vulliamy; B Morgan; koenraad devriendt; Philip J Mason; Inderjeet Dokal
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.
Human genetics 2001;108(4):299-303.
2001: I Casteels; koenraad devriendt; H Van Cleynenbreugel; P Demaerel; F De Tavernier; J P Fryns
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome.
The British journal of ophthalmology 2001;85(4):499-500.
2001: koenraad devriendt; Annette S Kim; G Mathijs; Suzanna G M Frints; M Schwartz; J J Van Den Oord; G E Verhoef; M A Boogaerts; Jean-Pierre Fryns; Daoqi You; Michael K Rosen; Peter Vandenberghe
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
Nature genetics 2001;27(3):313-7.
2001: Ann Swillen; koenraad devriendt; Pol Ghesquière; Jean-Pierre Fryns
Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age.
Genetic counseling (Geneva, Switzerland) 2001;12(4):309-17.
2001: Luc De Smet; koenraad devriendt; Jean-Pierre Fryns
Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father.
Genetic counseling (Geneva, Switzerland) 2001;12(3):251-4.
2001: Gunnar Naulaers; koenraad devriendt; P Moerman; P Gillis; Christine Vanhole; Hugo Devlieger
Aneurysm of the ductus arteriosus in a neonate with 13q-deletion.
American journal of perinatology 2001;18(1):11-4.
2001: Greet Vantrappen; Nathalie Rommel; koenraad devriendt; Cor W R J Cremers; Louw Feenstra; Jean-Pierre Fryns
Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
Acta oto-rhino-laryngologica Belgica 2001;55(1):43-8.
2001: H J Lüdecke; J Schaper; P Meinecke; P Momeni; S Gross; H Hirche; M J Abramowicz; B Albrecht; C Apacik; H J Christen; U Claussen; koenraad devriendt; E Fastnacht; A Forderer; U Friedrich; T H Goodship; M Greiwe; H Hamm; Raoul Hennekam; G K Hinkel; M Hoeltzenbein; H Kayserili; F Majewski; M Mathieu; R McLeod; A T Midro; U Moog; T Nagai; N Niikawa; K H Orstavik; E Plöchl; C Seitz; J Schmidtke; L Tranebjaerg; M Tsukahara; B Wittwer; B Zabel; G Gillessen-Kaesbach; B Horsthemke
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
American journal of human genetics 2001;68(1):81-91.
2000: Stephan J Claes; koenraad devriendt; Gert Van Goethem; L Roelen; J Meireleire; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
Novel syndromic form of X-linked complicated spastic paraplegia.
American journal of medical genetics 2000;94(1):1-4.
2000: koenraad devriendt
Genetic control of intra-uterine growth.
European journal of obstetrics, gynecology, and reproductive biology 2000;92(1):29-34.
2000: Noritaka Iwatani; Hiroyo Mabe; koenraad devriendt; M Kodama; Teruhisa Miike
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure.
The Journal of pediatrics 2000;137(2):272-6.
2000: Alexandre Irrthum; M J Karkkainen; koenraad devriendt; K Alitalo; Miikka Vikkula
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
American journal of human genetics 2000;67(2):295-301.
2000: Hilde Van Esch; Peter Groenen; M Andrew Nesbit; S Schuffenhauer; Peter Lichtner; G Vanderlinden; Brian Harding; R Beetz; R W Bilous; I Holdaway; N J Shaw; Jean-Pierre Fryns; Wim Van de Ven; Rajesh V Thakker; koenraad devriendt
GATA3 haplo-insufficiency causes human HDR syndrome.
Nature 2000;406(6794):419-22.
2000: Annick Vogels; koenraad devriendt; Joris R Vermeesch; R Van Dael; Peter Marynen; P Dewaele; J Hageman; Maureen Holvoet; Jean-Pierre Fryns
Cryptic translocation t(5;18) in familial mental retardation.
Annales de génétique 2000;43(3-4):117-23.
2000: Zsolt Urbán; V V Michels; S N Thibodeau; Elaine C Davis; J P Bonnefont; A Munnich; B Eyskens; M Gewillig; koenraad devriendt; Charles D Boyd
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Human genetics 2000;106(6):577-88.
2000: Ingrid Witters; koenraad devriendt; Philippe Moerman; C Van Hole; Jean-Pierre Fryns
Diaphragmatic hernia as the first echographic sign in Apert syndrome.
Prenatal diagnosis 2000;20(5):404-6.
2000: Chih-Ping Chen; koenraad devriendt; Schu-Rern Chern; Chen-Chi Lee; Wayseen Wang; Shuan-Pei Lin
Prenatal diagnosis of inherited satellited non-acrocentric chromosomes.
Prenatal diagnosis 2000;20(5):384-9.
2000: koenraad devriendt; K Keymolen; L Roelen; Gert Van Goethem; J Meireleire; Jean-Pierre Fryns
Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.
Clinical dysmorphology 2000;9(2):111-4.
2000: Sally A Feather; Sue Malcolm; Adrian S Woolf; Victoria Wright; Diana Blaydon; C J Reid; F A Flinter; W Proesmans; koenraad devriendt; J Carter; Paul Warwicker; Timothy H J Goodship; Judith A Goodship
Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1.
American journal of human genetics 2000;66(4):1420-5.
2000: T Lukusa; koenraad devriendt; Maureen Holvoet; Jean-Pierre Fryns
Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.
American journal of medical genetics 2000;91(3):192-7.
2000: koenraad devriendt; J P Fryns; Gunnar Naulaers; H Devlieger; P Alliet
Neuroblastoma in a mother and congenital central hypoventilation in her daughter: variable expression of the same genetic disorder?
American journal of medical genetics 2000;90(5):430-1.
2000: Ann Swillen; Annick Vogels; koenraad devriendt; J P Fryns
Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications.
American journal of medical genetics 2000;97(2):128-35.
2000: Anita Leys; H D Gilbert; W Van De Sompel; Claire Verougstraete; koenraad devriendt; L Lagae; J D Gass
Familial spastic paraplegia and maculopathy with juxtafoveolar retinal telangiectasis and subretinal neovascularization.
Retina (Philadelphia, Pa.) 2000;20(2):184-9.
2000: J P Fryns; koenraad devriendt
On the nosology of van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.
Genetic counseling (Geneva, Switzerland) 2000;11(1):59-60.
2000: koenraad devriendt; M Holvoet; A De Mûelenaere; J P Fryns
The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation.
Clinical genetics 2000;57(1):83-5.
1999: Ann Swillen; L Vandeputte; J Cracco; B Maes; Pol Ghesquière; koenraad devriendt; Jean-Pierre Fryns
Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability?
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 1999;5(4):230-41.
1999: Chih-Ping Chen; koenraad devriendt; Chen-Chi Lee; Wen-Lin Chen; Wayseen Wang; Tao-Yeuan Wang
Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.
Prenatal diagnosis 1999;19(10):986-9.
1999: Griet Van Buggenhout; JC Trommelen; A Schoenmaker; C De Bal; J J Verbeek; D F Smeets; H H Ropers; koenraad devriendt; Ben C J Hamel; Jean-Pierre Fryns
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care.
American journal of medical genetics 1999;85(4):376-84.
1999: Stephan J Claes; P Volcke; koenraad devriendt; Maureen Holvoet; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
Regional localization of a gene for nonspecific XLMR to Xp11.3-p11. 23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1.
American journal of medical genetics 1999;85(3):283-7.
1999: koenraad devriendt; Maureen Holvoet; J P Fryns
Follow-up of an adult with Keutel syndrome.
American journal of medical genetics 1999;85(1):82-3.
1999: Anne De Paepe; Bart Loeys; koenraad devriendt; Jean-Pierre Fryns
Occipital Horn syndrome in a 2-year-old boy.
Clinical dysmorphology 1999;8(3):179-83.
1999: koenraad devriendt; J Jaeken; G Matthijs; Hilde Van Esch; Philippe Debeer; M Gewillig; J P Fryns
Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.
American journal of human genetics 1999;65(1):249-51.
1999: Hilde Van Esch; Peter Groenen; S Daw; A Poffyn; Maureen Holvoet; P Scambler; Jean-Pierre Fryns; Wim Van de Ven; koenraad devriendt
Partial DiGeorge syndrome in two patients with a 10p rearrangement.
Clinical genetics 1999;55(4):269-76.
1999: koenraad devriendt; Gert Matthijs; R Van Dael; Marc Gewillig; Benedicte Eyskens; Helle Hjalgrim; B Dolmer; J McGaughran; K Bröndum-Nielsen; Peter Marynen; Jean-Pierre Fryns; Joris R Vermeesch
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
American journal of human genetics 1999;64(4):1119-26.
1999: koenraad devriendt; Gert Matthijs; Maureen Holvoet; Eric F P M Schoenmakers; Jean-Pierre Fryns
Triplication of distal chromosome 10q.
Journal of medical genetics 1999;36(3):242-5.
1999: Juergen Kohlhase; P E Taschner; Peter Burfeind; Bastian Pasche; B Newman; C Blanck; M H Breuning; L P ten Kate; P Maaswinkel-Mooy; Beate Mitulla; Jörg Seidel; SJ Kirkpatrick; RM Pauli; DS Wargowski; koenraad devriendt; W Proesmans; Orazio Gabrielli; G V Coppa; E Wesby-van Swaay; R C Trembath; Albert Schinzel; W Reardon; Eva Seemanova; Wolfgang Engel
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
American journal of human genetics 1999;64(2):435-45.
1999: T Lukusa; koenraad devriendt; Jean-Pierre Fryns
A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).
Annales de génétique 1999;42(2):91-4.
1999: T Lukusa; koenraad devriendt; Jaak Jaeken; Jean-Pierre Fryns
Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation.
Clinical dysmorphology 1999;8(1):47-51.
1999: Ann Swillen; koenraad devriendt; Eric Legius; P Prinzie; Annick Vogels; Pol Ghesquière; Jean-Pierre Fryns
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.
Genetic counseling (Geneva, Switzerland) 1999;10(1):79-88.
1999: Nathalie Rommel; Greet Vantrappen; Ann Swillen; koenraad devriendt; Louw Feenstra; Jean-Pierre Fryns
Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 1999;10(1):71-8.
1999: Hilde Van Esch; Peter Groenen; Jean-Pierre Fryns; Wim Van de Ven; koenraad devriendt
The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
Genetic counseling (Geneva, Switzerland) 1999;10(1):59-65.
1999: Greet Vantrappen; koenraad devriendt; Ann Swillen; Nathalie Rommel; Annick Vogels; Benedicte Eyskens; Marc Gewillig; Louw Feenstra; Jean-Pierre Fryns
Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
Genetic counseling (Geneva, Switzerland) 1999;10(1):3-9.
1999: koenraad devriendt; J P Fryns; P Moerman; Christine Vanhole; H Devlieger
Heterogeneity in omphalocoele with absent radial ray complex.
American journal of medical genetics 1999;82(1):95-6.
1998: Ann Swillen; koenraad devriendt; Greet Vantrappen; Annick Vogels; Nathalie Rommel; Jean-Pierre Fryns; Benedicte Eyskens; Marc Gewillig; M Dumoulin
Familial deletions of chromosome 22q11: the Leuven experience.
American journal of medical genetics 1998;80(5):531-2.
1998: Stuart W Knight; Tom Vulliamy; Nina S Heiss; G Matthijs; koenraad devriendt; J M Connor; Michele D'Urso; Annemarie Poustka; Philip J Mason; Inderjeet Dokal
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.
Journal of medical genetics 1998;35(12):993-6.
1998: koenraad devriendt; G Matthijs; J P Fryns; V Ballegeer
Second trimester miscarriage of a male fetus with incontinentia pigmenti.
American journal of medical genetics 1998;80(3):298-9.
1998: Greet Vantrappen; Nathalie Rommel; Cor W R J Cremers; koenraad devriendt; JP Frijns
The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications.
International journal of pediatric otorhinolaryngology 1998;45(2):133-41.
1998: Heather Cunliffe; LA McNoe; TA Ward; koenraad devriendt; H G Brunner; Michael Eccles
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.
Journal of medical genetics 1998;35(10):806-12.
1998: Chris Van Geet; koenraad devriendt; Benedicte Eyskens; Jos Vermylen; Marc F Hoylaerts
Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets.
Pediatric research 1998;44(4):607-11.
1998: T Lukusa; koenraad devriendt; Maureen Holvoet; Jean-Pierre Fryns
Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.
Clinical genetics 1998;54(3):224-30.
1998: koenraad devriendt; Jean-Pierre Fryns; G Mortier; M N van Thienen; Kathelijn Keymolen
The annual incidence of DiGeorge/velocardiofacial syndrome.
Journal of medical genetics 1998;35(9):789-90.
1998: koenraad devriendt; Gert Matthijs; B Van Damme; D Van Caesbroeck; M Eccles; Y Vanrenterghem; Jean-Pierre Fryns; Anita Leys
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
Human genetics 1998;103(2):149-53.
1998: koenraad devriendt; J P Fryns; C P Chen
Holoprosencephaly in deletions of proximal chromosome 14q.
Journal of medical genetics 1998;35(7):612.
1998: Gert Matthijs; koenraad devriendt; Jean-Pierre Fryns
The prenatal diagnosis of spinal muscular atrophy.
Prenatal diagnosis 1998;18(6):607-10.
1998: koenraad devriendt; D Stoffelen; R Pfeiffer; Anita Leys; Jean-Pierre Fryns
Oto-onycho-peroneal syndrome: confirmation of a syndrome.
Journal of medical genetics 1998;35(6):508-9.
1998: koenraad devriendt; Ann Swillen; Jean-Pierre Fryns
Deletion in chromosome region 22q11 in a child with CHARGE association.
Clinical genetics 1998;53(5):408-10.
1998: koenraad devriendt; Christine Vanhole; G Matthijs; Francis de Zegher
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.
The New England journal of medicine 1998;338(18):1317-8.
1998: Peter Groenen; G Vanderlinden; koenraad devriendt; Jean-Pierre Fryns; Wim J M Van De Ven
Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia.
Genomics 1998;49(2):218-29.
1998: Jean-Pierre Fryns; C Van Lingen; koenraad devriendt; Eric Legius; P Raus
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.
Journal of medical genetics 1998;35(4):333-5.
1998: koenraad devriendt; Peter Groenen; Hilde Van Esch; M van Dijck; Wim Van de Ven; Jean-Pierre Fryns; W Proesmans
Vesico-ureteral reflux: a genetic condition?
European journal of pediatrics 1998;157(4):265-71.
1998: koenraad devriendt; Gert Matthijs; J Meireleire; L Roelen; Griet Van Buggenhout; Jean-Pierre Fryns
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).
Genetic counseling (Geneva, Switzerland) 1998;9(4):283-6.
1998: Patrice X. PETIT; koenraad devriendt; M Azou; Marc Gewillig; Jean-Pierre Fryns
Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes.
Genetic counseling (Geneva, Switzerland) 1998;9(4):271-5.
1998: Annick Vogels; koenraad devriendt; Eric Legius; P Decock; J Marien; G Hendrickx; J P Fryns
The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents.
Genetic counseling (Geneva, Switzerland) 1998;9(4):245-53.
1998: T Lukusa; Griet Van Buggenhout; koenraad devriendt; J Meireleire; Gert Van Goethem; L Roelen; Jean-Pierre Fryns
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.
Annales de génétique 1998;41(4):199-204.
1998: A Bergen; koenraad devriendt; Ludwine MESSIAEN; G Mortier; F Speleman; L Van Maldergem; Simone van Soest
Genetics in ophthalmology.
Bulletin de la Société belge d'ophtalmologie 1998;269():1-244.
1998: Patrice X. PETIT; koenraad devriendt; Joris R Vermeesch; J Meireleire; Jean-Pierre Fryns
Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p).
Genetic counseling (Geneva, Switzerland) 1998;9(3):215-21.
1998: koenraad devriendt; Maureen Holvoet; Jean-Pierre Fryns
Further delineation of the KBG syndrome.
Genetic counseling (Geneva, Switzerland) 1998;9(3):191-4.
1998: Jean-Pierre Fryns; Eric E J Smeets; koenraad devriendt; Patrice X. PETIT
Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.
Annales de génétique 1998;41(2):73-6.
1998: J P Fryns; koenraad devriendt; E Legius
Skin pigmentation anomalies in ring chromosome 13.
Genetic counseling (Geneva, Switzerland) 1998;9(2):155-6.
1998: Patrice X. PETIT; koenraad devriendt; Joris R Vermeesch; Paul De Cock; Jean-Pierre Fryns
Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation.
Annales de génétique 1998;41(1):22-6.
1998: J P Fryns; koenraad devriendt
Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome.
Genetic counseling (Geneva, Switzerland) 1998;9(1):57-8.
1998: Jean-Pierre Fryns; koenraad devriendt; C Detroch; P Decock
Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia.
Genetic counseling (Geneva, Switzerland) 1998;9(1):51-4.
1998: koenraad devriendt; Dominique Van Schoubroeck; Benedicte Eyskens; Greet Vantrappen; Ann Swillen; Marc Gewillig; M Dumoulin; Philippe Moerman; K Vandenberghe; Jean-Pierre Fryns
Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.
Prenatal diagnosis 1998;18(1):68-72.
1998: koenraad devriendt; Dominique Van Schoubroeck; Benedicte Eyskens; Marc Gewillig; K Vandenberghe; Jean-Pierre Fryns
Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect.
Prenatal diagnosis 1998;18(1):65-7.
1998: koenraad devriendt; L Standaert; C Van Hole; Hugo Devlieger; Jean-Pierre Fryns
Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.
Journal of medical genetics 1998;35(1):70-1.
1997: Stephan J Claes; Annick Vogels; Maureen Holvoet; koenraad devriendt; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).
American journal of medical genetics 1997;73(4):474-9.
1997: J P Fryns; koenraad devriendt
Precocious puberty in Klinefelter syndrome: non-specific result of neurological deficit?
American journal of medical genetics 1997;72(1):122.
1997: I Claeys; Maureen Holvoet; Benedicte Eyskens; P Adriaensens; Marc Gewillig; Jean-Pierre Fryns; koenraad devriendt
A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.
American journal of medical genetics 1997;74(5):515-20.
1997: Stephan J Claes; koenraad devriendt; Patrizia D'Adamo; J Meireleire; Petra Raeymaekers; Daniela Toniolo; Jean-Jacques Cassiman; Jean-Pierre Fryns
X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.
Clinical genetics 1997;52(3):155-61.
1997: Stephan J Claes; koenraad devriendt; Lieven Lagae; Berten Ceulemans; L Dom; PJ Casaer; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.
Annals of neurology 1997;42(3):360-4.
1997: J P Fryns; koenraad devriendt; E Legius
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome?
Clinical dysmorphology 1997;6(3):285-6.
1997: Ann Swillen; koenraad devriendt; Eric Legius; Benedicte Eyskens; M Dumoulin; Marc Gewillig; Jean-Pierre Fryns
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
Journal of medical genetics 1997;34(6):453-8.
1997: Joris R Vermeesch; Patrice X. PETIT; Frank Speleman; koenraad devriendt; Jean-Pierre Fryns; Peter Marynen
Interstitial telomeric sequences at the junction site of a jumping translocation.
Human genetics 1997;99(6):735-7.
1997: koenraad devriendt; Philippe Moerman; Dominique Van Schoubroeck; K Vandenberghe; Jean-Pierre Fryns
Chromosome 22q11 deletion presenting as the Potter sequence.
Journal of medical genetics 1997;34(5):423-5.
1997: koenraad devriendt; Patrice X. PETIT; Gert Matthijs; Joris R Vermeesch; Maureen Holvoet; A De Muelenaere; Peter Marynen; Jean-Jacques Cassiman; Jean-Pierre Fryns
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.
Journal of medical genetics 1997;34(5):395-9.
1997: koenraad devriendt; R Van Hoestenberghe; C Van Hole; Hugo Devlieger; Marc Gewillig; Philippe Moerman; H Van den Berghe; Jean-Pierre Fryns
Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.
Clinical genetics 1997;51(4):246-9.
1997: koenraad devriendt; Gert Matthijs; S Claes; Eric Legius; Willem Proesmans; Jean-Jacques Cassiman; Jean-Pierre Fryns
Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.
Journal of medical genetics 1997;34(4):318-22.
1997: Lisa A Schimmenti; Heather Cunliffe; LA McNoe; TA Ward; Michelle C French; HH Shim; Yao-Hua Zhang; W Proesmans; A Leys; K A Byerly; S R Braddock; M Masuno; K Imaizumi; koenraad devriendt; Michael Eccles
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
American journal of human genetics 1997;60(4):869-78.
1997: koenraad devriendt; Gert Matthijs; Eric Legius; Els Schollen; Daniel Blockmans; Chris Van Geet; H Degreef; Jean-Jacques Cassiman; Jean-Pierre Fryns
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
American journal of human genetics 1997;60(3):581-7.
1997: koenraad devriendt; Luc De Smet; K De Boeck; Jean-Pierre Fryns
DiGeorge syndrome and unilateral symbrachydactyly.
Genetic counseling (Geneva, Switzerland) 1997;8(4):345-7.
1997: koenraad devriendt; Gunnar Naulaers; G Matthijs; K Van Houdt; Hugo Devlieger; M Gewillig; J P Fryns
Agenesis of corpus callosum and anophthalmia in the asplenia syndrome. A recognisable association?
Annales de génétique 1997;40(1):14-7.
1996: Peter Groenen; E Garcia; P Debeer; koenraad devriendt; J P Fryns; Wim J M Van De Ven
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia.
Genomics 1996;38(2):141-8.
1996: koenraad devriendt; M Lammens; Els Schollen; C Van Hole; R Dom; Hugo Devlieger; Jean-Jacques Cassiman; J P Fryns; Gert Matthijs
Clinical and molecular genetic features of congenital spinal muscular atrophy.
Annals of neurology 1996;40(5):731-8.
1996: koenraad devriendt; H Van den Berghe; J P Fryns; P Van Reempst
Large congenital follicular ovarian cyst in a girl with Kabuki syndrome.
American journal of medical genetics 1996;65(1):90-91.
1996: koenraad devriendt; M N Thienen; Ann Swillen; J P Fryns
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.
Developmental medicine and child neurology 1996;38(10):949-53.
1996: J P Fryns; koenraad devriendt
Velo-facio-skeletal syndrome versus Aarskog syndrome.
American journal of medical genetics 1996;64(4):604.
1996: koenraad devriendt; Benedicte Eyskens; Ann Swillen; M Dumoulin; Marc Gewillig; J P Fryns
The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease.
European journal of pediatrics 1996;155(8):721.
1996: Gert Matthijs; Els Schollen; Eric Legius; koenraad devriendt; N Goemans; H Kayserili; M Y Apäk; Jean-Jacques Cassiman
Unusual molecular findings in autosomal recessive spinal muscular atrophy.
Journal of medical genetics 1996;33(6):469-74.
1996: koenraad devriendt; K van den Berghe; Philippe Moerman; J P Fryns
Elevated maternal serum and amniotic fluid alpha-fetoprotein levels in the Denys-Drash syndrome.
Prenatal diagnosis 1996;16(5):455-7.
1996: J P Fryns; Eric Legius; koenraad devriendt; F Meire; L Standaert; E Baten; Herman Van Den Berghe
Cohen syndrome: the clinical symptoms and stigmata at a young age.
Clinical genetics 1996;49(5):237-41.
1996: koenraad devriendt; Ann Swillen; J P Fryns; W Proesmans; Marc Gewillig
Renal and urological tract malformations caused by a 22q11 deletion.
Journal of medical genetics 1996;33(4):349.
1996: koenraad devriendt; Eric Legius; J P Fryns
Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?
American journal of medical genetics 1996;62(1):54-7.
1996: koenraad devriendt; L D'Espallier; J P Fryns
Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.
Journal of medical genetics 1996;33(3):224-6.
1996: koenraad devriendt; L Dooms; Willem Proesmans; Francis de Zegher; V Desmet; E Eggermont
Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?
European journal of pediatrics 1996;155(2):87-90.
1996: koenraad devriendt; J van den Oord; R De Vos; Herman Van Den Berghe; J P Fryns
Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities.
American journal of medical genetics 1996;61(2):127-30.
1996: Peter Groenen; E Garcia; R Thoelen; M Aly; Eric F P M Schoenmakers; koenraad devriendt; J P Fryns; Wim J M Van De Ven
Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia.
Cytogenetics and cell genetics 1996;75(4):210-5.
1996: J P Fryns; H Devlieger; M Gewillig; P Lukusa; koenraad devriendt
Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome.
Genetic counseling (Geneva, Switzerland) 1996;7(3):237-9.
1996: J P Fryns; M D'Hooghe; koenraad devriendt
Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene.
Genetic counseling (Geneva, Switzerland) 1996;7(3):227-30.
1996: J P Fryns; koenraad devriendt; P Moerman
Lumbosacral spina bifida and myeloschizis in a female foetus with de novo X/autosomal translocation (t(X;22)(q27;q121))
Genetic counseling (Geneva, Switzerland) 1996;7(2):159-60.
1996: koenraad devriendt; Herman Van Den Berghe; J P Fryns
Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.
Clinical genetics 1996;49(1):6-9.
1995: koenraad devriendt; J P Fryns
Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux.
American journal of medical genetics 1995;59(3):396-8.
1995: koenraad devriendt; E Deloof; Philippe Moerman; Eric Legius; Christine Vanhole; Francis de Zegher; W Proesmans; Hugo Devlieger
Diaphragmatic hernia in Denys-Drash syndrome.
American journal of medical genetics 1995;57(1):97-101.
1995: C Guo; B Van Damme; Y Vanrenterghem; koenraad devriendt; Jean-Jacques Cassiman; Peter Marynen
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
The Journal of clinical investigation 1995;95(4):1832-7.
1995: koenraad devriendt; C Van Mol; J P Fryns
Craniofrontonasal dysplasia: more severe expression in the mother than in her son.
Genetic counseling (Geneva, Switzerland) 1995;6(4):361-4.
1995: koenraad devriendt; K De Mars; Paul De Cock; Marc Gewillig; J P Fryns
Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome.
Annales de génétique 1995;38(4):228-30.
1995: koenraad devriendt; P De Cock; J P Fryns
Hydrocephalus with features of VATER.
Genetic counseling (Geneva, Switzerland) 1995;6(1):69.
1995: koenraad devriendt; L Lemli; Marguerita Craen; Francis de Zegher
Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome.
Hormone research 1995;43(6):303-6.
1994: koenraad devriendt; A Casaer; A Van Cauter; Francis de Zegher; M Dumoulin; Marc Gewillig; Hugo Devlieger
Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings.
European journal of pediatrics 1994;153(10):712-4.
1994: koenraad devriendt; J P Fryns
The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia.
Clinical genetics 1994;45(6):330-1.
1993: koenraad devriendt; G Massa; F de Zegher; M Vanderschueren-Lodeweyckx; Jean-Jacques Cassiman; Herman Van Den Berghe; Peter Marynen
Opposite effects of growth hormone and estrogens on the pregnancy zone protein serum levels in children and adolescents.
Acta endocrinologica 1993;128(4):334-8.
1993: M S Aly; Paola Dal Cin; Philippe Moerman; Ivo De Wever; koenraad devriendt; P Brock; M Casteels-Van Daele; Herman Van Den Berghe
Loss of the Y-chromosome in a malignant Sertoli tumor.
Cancer genetics and cytogenetics 1993;65(2):104-6.
1993: J P Fryns; A Kleczkowska; koenraad devriendt; H Devliegher; Herman Van Den Berghe
Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.
Genetic counseling (Geneva, Switzerland) 1993;4(1):37-41.
1992: Gert Matthijs; koenraad devriendt; Jean-Jacques Cassiman; Herman Van Den Berghe; Peter Marynen
Structure of the human alpha-2 macroglobulin gene and its promotor.
Biochemical and biophysical research communications 1992;184(2):596-603.
1991: koenraad devriendt; Herman Van Den Berghe; Jean-Jacques Cassiman; Peter Marynen
Primary structure of pregnancy zone protein. Molecular cloning of a full-length PZP cDNA clone by the polymerase chain reaction.
Biochimica et biophysica acta 1991;1088(1):95-103.
1990: J Zhang; koenraad devriendt; Peter Marynen; Herman Van Den Berghe; Jean-Jacques Cassiman
Chromosome mapping using polymerase chain reaction on somatic cell hybrids.
Cancer genetics and cytogenetics 1990;45(2):217-21.
1990: Peter Marynen; koenraad devriendt; Herman Van Den Berghe; Jean-Jacques Cassiman
A genetic polymorphism in a functional domain of human pregnancy zone protein: the bait region. Genomic structure of the bait domains of human pregnancy zone protein and alpha 2 macroglobulin.
FEBS letters 1990;262(2):349-52.
1989: J Zhang; Peter Marynen; koenraad devriendt; J P Fryns; Herman Van Den Berghe; Jean-Jacques Cassiman
Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.
Human genetics 1989;83(4):359-63.
1989: koenraad devriendt; J Zhang; Fred Van Leuven; Herman Van Den Berghe; Jean-Jacques Cassiman; Peter Marynen
A cluster of alpha 2-macroglobulin-related genes (alpha 2 M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an alpha 2M pseudogene.
Gene 1989;81(2):325-34.