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T J L de Ravel

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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.
Eline Beert; Hilde Brems; Karen Cichowski; Bruno Daniëls; Thomas De Raedt; T J L de Ravel; Ivo De Wever; Maria Debiec-Rychter; Olivier Gevaert; Lan Kluwe; Victor Mautner; Joseph Schoenaers; Raf Sciot; Frank Van Calenbergh; Annick Van den Bruel; Eric Legius
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors.
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.

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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.
2011: Eline Beert; Hilde Brems; Karen Cichowski; Bruno Daniëls; Thomas De Raedt; T J L de Ravel; Ivo De Wever; Maria Debiec-Rychter; Olivier Gevaert; Lan Kluwe; Victor Mautner; Joseph Schoenaers; Raf Sciot; Frank Van Calenbergh; Annick Van den Bruel; Eric Legius
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors.
Genes, chromosomes & cancer 2011;50(12):1021-32.
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: Boyan Dimitrov; Irina Balikova; T J L de Ravel; Hilde Van Esch; Maryse De Smedt; Emiel Baten; Joris R Vermeesch; Irena Bradinova; Emil Simeonov; Koen Devriendt; Jean-Pierre Fryns; Philippe Debeer
2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
Journal of medical genetics 2011;48(2):98-104.
2010: Liesbeth Backx; Joris R Vermeesch; Elly Pijkels; T J L de Ravel; Eve Seuntjens; Hilde Van Esch
PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.
European journal of medical genetics 2010;53(5):239-43.
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.
2009: Irina Balikova; A-E Lehesjoki; T J L de Ravel; Bernard Thienpont; K E Chandler; J Clayton-Smith; A-L Träskelin; Jean-Pierre Fryns; Joris R Vermeesch
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
Human mutation 2009;30(9):E845-54.
2008: E Denayer; T J L de Ravel; Eric Legius
Clinical and molecular aspects of RAS related disorders.
Journal of medical genetics 2008;45(11):695-703.
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.
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: 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: 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: 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: Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen V Firth; Mohammad Hassan Karimi-Nejad; Chong A Kim; Kathryn Leask; Melissa K Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; T J L de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; Louise C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Journal of medical genetics 2007;44(2):89-98.
2007: Corinne Stoetzel; Jean Muller; Virginie Laurier; Erica E Davis; Norann Zaghloul; Serge Vicaire; Cecile Jacquelin; Frédéric Plewniak; Carmen C Leitch; Pierre Sarda; Christian Hamel; T J L de Ravel; Richard Alan Lewis; Evelyne Friederich; Christelle Thibault; Jean-Marc Danse; Alain Verloes; Dominique Bonneau; Nicholas Katsanis; Olivier Poch; Jean-Louis Mandel; Hélène Dollfus
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
American journal of human genetics 2007;80(1):1-11.
2006: E Chabchoub; T J L de Ravel; Reinhilde Thoelen; Joris R Vermeesch; Jean-Pierre Fryns; Hilde Van Esch
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly.
Clinical genetics 2006;70(6):535-7.
2006: J Van Keirsbilck; Mieke Cannie; C Robrechts; T J L de Ravel; S Dymarkowski; Thierry Van den Bosch; Dominique Van Schoubroeck
First trimester diagnosis of sirenomelia.
Prenatal diagnosis 2006;26(8):684-8.
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: Marijke Aerts; Caroline Van Holsbeke; T J L de Ravel; Roland Devlieger
Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.
Prenatal diagnosis 2006;26(4):394.
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.
2005: T J L de Ravel; Peter Aerssens; Joris R Vermeesch; Jean-Pierre Fryns
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
European journal of medical genetics 2005;48(3):355-9.
2005: 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: Neil V Morgan; Fahmida Essop; Ilja Demuth; T J L de Ravel; Stander Jansen; Marc Tischkowitz; Cathryn M Lewis; Linda Wainwright; Janet Poole; Hans Joenje; Martin Digweed; Amanda Krause; Christopher G Mathew
A common Fanconi anemia mutation in black populations of sub-Saharan Africa.
Blood 2005;105(9):3542-4.
2005: T J L de Ravel; Paul Thiry; Jean-Pierre Fryns
Follow-up of adult males with chromosome 18p deletion.
European journal of medical genetics 2005;48(2):189-93.
2005: T J L de Ravel; Indira B Taylor; Alex J T Van Oostveldt; Jean-Pierre Fryns; Andrew O M Wilkie
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
European journal of human genetics : EJHG 2005;13(4):503-5.
2004: T J L de Ravel; Kathelijn Keymolen; Elvire Van Assche; Ingrid Wittevronghel; Philippe Moerman; Ivo Salden; Gert Matthijs; Jean-Pierre Fryns; Joris R Vermeesch
Post-zygotic origin of isochromosome 12p.
Prenatal diagnosis 2004;24(12):984-8.
2004: 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: 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: T J L de Ravel; J Van Driessche; J P Fryns
Macrocephaly, mental retardation, dysmorphism, and spastic paraplegia.
American journal of medical genetics. Part A 2004;127A(3):329-30.
2004: Philippe Debeer; L Vandenbossche; T J L de Ravel; C Desloovere; Luc De Smet; Christel Huysmans; Reinhilde Thoelen; Joris R Vermeesch; Wim J M Van De Ven; Jean-Pierre Fryns
Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.
Clinical genetics 2004;65(2):153-5.
2004: T J L de Ravel; Jean-Pierre Fryns; J Van Driessche; Joris R Vermeesch
Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation.
American journal of medical genetics. Part A 2004;124A(3):259-62.
2004: T J L de Ravel; Dominique Van Schoubroeck; C Robrechts; Thierry Van den Bosch; J P Fryns
Primary body stalk anomaly in a first trimester fetus.
Genetic counseling (Geneva, Switzerland) 2004;15(2):237-8.
2003: T J L de Ravel; Joris R Vermeesch; Jean-Pierre Fryns
De novo interstitial tandem duplication of chromosome 20p12.1p13.
American journal of medical genetics. Part A 2003;117A(1):76-9.
2002: T J L de Ravel; L De Smet; J-P Fryns
Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset.
Clinical dysmorphology 2002;11(4):261-6.
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: Jean-Pierre Fryns; T J L de Ravel
London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851-780, pound sterling 1595.
Human genetics 2002;111(1):113.
2002: JJ Grobbelaar; E Wilken; T J L de Ravel; D L Nicholson; Maritha J Kotze
Familial adenomatous polyposis in two Black South African families.
Clinical genetics 2002;61(3):214-7.
2002: T J L de Ravel; K Dillen; J P Fryns
"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia.
Genetic counseling (Geneva, Switzerland) 2002;13(4):475-6.
2002: T J L de Ravel; M Azou; J R Fryns
Cohen syndrome and rheumatoid arthritis.
Genetic counseling (Geneva, Switzerland) 2002;13(1):63-4.
2001: T J L de Ravel; Eric Legius; Hilde Brems; R Van Hoestenberghe; Phillipe Gillis; Jean-Pierre Fryns
Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor.
Clinical dysmorphology 2001;10(4):263-7.
2001: Alex J Tipping; T Pearson; Neil V Morgan; Robert Alan Gibson; L P Kuyt; C Havenga; Eliane Gluckman; Hans Joenje; T J L de Ravel; Stander Jansen; Christopher G Mathew
Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(10):5734-9.
2001: T J L de Ravel; E Deckers; P L Alliet; Patrice X. PETIT; Jean-Pierre Fryns
The ICF syndrome: new case and update.
Genetic counseling (Geneva, Switzerland) 2001;12(4):379-85.
2000: L Faivre; Philippe Guardiola; C Lewis; Inderjeet Dokal; Wolfram Ebell; Adriana Zatterale; Cigdem Altay; Janet Poole; David Stones; Mei Lan Kwee; M van Weel-Sipman; C Havenga; N Morgan; Johan P de Winter; Martin Digweed; Anna Savoia; J Pronk; T J L de Ravel; Stander Jansen; Hans Joenje; Eliane Gluckman; Christopher G Mathew
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.
Blood 2000;96(13):4064-70.
1999: M Wijker; Neil V Morgan; Sabine Herterich; Carola G M van Berkel; Alex J Tipping; Hans J Gross; Johan J P Gille; Gerard Pals; Maria Savino; Cigdem Altay; S Mohan; Inderjeet Dokal; J Cavenagh; Judith Marsh; M van Weel; JJ Ortega; D Schuler; E Samochatova; M Karwacki; Albert Bekassy; M Abecasis; Wolfram Ebell; Mei Lan Kwee; T J L de Ravel
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
European journal of human genetics : EJHG 1999;7(1):52-9.