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Guy Van Camp

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Isabelle Schrauwen; Manou Sommen; Guy Van Camp; Rebecca A Reiman; Maria Bitner-Glindzicz; Charlotte Claes; Kathleen Claes; Jason Corneveaux; Paul Coucke; Nicole J Hackett; Matthew Huentelman
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
Isabelle Schrauwen; Celia Zazo Seco; Manou Sommen; Mohammad Amin Tabatabaiefar; Morteza Hashemzadeh Chaleshtori; Charlotte Claes; Paul Coucke; Annelies Dheedene; Erik Fransen; Sarah Helfmann; Akira Inagaki; Hannie Kremer; Amy Lee; Tobias Moser; Jaap Oostrik; Maria Magdalena Picher; Friederike Predoehl; Guy Van Camp
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
Małgorzata Pawełczyk; Elzbieta Rajkowska; Guy Van Camp; Adam Dudarewicz; Piotr Kotyło; Mariola Śliwińska-Kowalska
Analysis of inner ear potassium recycling genes as potential factors associated with tinnitus.

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All Publications

2013: Isabelle Schrauwen; Manou Sommen; Guy Van Camp; Rebecca A Reiman; Maria Bitner-Glindzicz; Charlotte Claes; Kathleen Claes; Jason Corneveaux; Paul Coucke; Nicole J Hackett; Matthew Huentelman
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
American journal of medical genetics. Part A 2013;161A(1):145-52.
2012: Isabelle Schrauwen; Celia Zazo Seco; Manou Sommen; Mohammad Amin Tabatabaiefar; Morteza Hashemzadeh Chaleshtori; Charlotte Claes; Paul Coucke; Annelies Dheedene; Erik Fransen; Sarah Helfmann; Akira Inagaki; Hannie Kremer; Amy Lee; Tobias Moser; Jaap Oostrik; Maria Magdalena Picher; Friederike Predoehl; Guy Van Camp
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.
American journal of human genetics 2012;91(4):636-45.
2012: Małgorzata Pawełczyk; Elzbieta Rajkowska; Guy Van Camp; Adam Dudarewicz; Piotr Kotyło; Mariola Śliwińska-Kowalska
Analysis of inner ear potassium recycling genes as potential factors associated with tinnitus.
International journal of occupational medicine and environmental health 2012;25(4):356-64.
2012: Kelly Demeester; Erik Fransen; Jan-Jaap Hendrickx; Vedat Topsakal; Guy Van Camp; Paul Van de Heyning; Lut Van Laer; Astrid van Wieringen
Hearing disability measured by the speech, spatial, and qualities of hearing scale in clinically normal-hearing and hearing-impaired middle-aged persons, and disability screening by means of a reduced SSQ (the SSQ5).
Ear and hearing 2012;33(5):615-6.
2012: Isabelle Schrauwen; Richard J H Smith; Charlotte Claes; Megan Ealy; Erik Fransen; Alex Huber; Ayda Khalfallah; Saber Masmoudi; Laura Rodriguez Murillo; Guy Van Camp
COL1A1 association and otosclerosis: a meta-analysis.
American journal of medical genetics. Part A 2012;158A(5):1066-70.
2012: Ken Op de Beeck; Lut Van Laer; Guy Van Camp
DFNA5, a gene involved in hearing loss and cancer: a review.
The Annals of otology, rhinology, and laryngology 2012;121(3):197-207.
2012: Sofie Van Rossom; Marina Caldara; Vanessa Franssens; Ruben Ghillebert; K Op de Beeck; Anne Schepers; E Swinnen; Guy Van Camp; Joris Winderickx
The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae.
Frontiers in oncology 2012;2():77.
2011: A M Voets; S V Baudouin; Patrick F Chinnery; Debby M E I Hellebrekers; A T M Hendrickx; A Pyle; Alphons P M Stassen; Guy Van Camp; B J C van den Bosch; E Van Eyken; Lut Van Laer; H J M Smeets
Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.
Mitochondrion 2011;11(6):964-72.
2011: Ken Op de Beeck; Jochen Schacht; Guy Van Camp
Apoptosis in acquired and genetic hearing impairment: the programmed death of the hair cell.
Hearing research 2011;281(1-2):18-27.
2011: Megan Ealy; Isabelle Schrauwen; Guy Van Camp
Commentary on "Otosclerosis: thirty-year follow-up after surgery".
The Annals of otology, rhinology, and laryngology 2011;120(9):615-6.
2011: S Bonneux; Erik Fransen; Mike Gerards; A T M Hendrickx; J Huyghe; H J M Smeets; A P M Stassen; Paul Van de Heyning; E Van Eyken; Lut Van Laer; A Voets; Guy Van Camp
Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population.
Mitochondrion 2011;11(5):729-34.
2011: Ken Op de Beeck; Luc Van Nassauw; V F I Van Tendeloo; Karen Vrijens; Isabelle Callebaut; Nathalie Cools; Sofie Thys; Jean Pierre Timmermans; Guy Van Camp; Lut Van Laer
The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.
European journal of human genetics : EJHG 2011;19(9):965-73.
2011: Maarten Vanwesemael; Fatemeh Alasti; Ruben Ceuppens; Morteza Hashemzadeh Chaleshtori; Effat Farrokhi; Ellen Jorssen; Isabelle Schrauwen; Guy Van Camp
A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.
American journal of medical genetics. Part A 2011;155A(8):2021-3.
2011: Michael S Hildebrand; Patrick Huygen; Hannie Kremer; K Lachlan; Fernando Mayo; Angeles Mencía; Nicole C Meyer; Silvia Modamio-Hoybjor; Carmelo Morales-Angulo; Felipe Moreno; matias morin; Carla J Nishimura; Leticia Olavarrieta; Isabelle Schrauwen; A Eliot Shearer; Richard J H Smith; Kyle R Taylor; Bruce Tompkins; Guy Van Camp; Maarten Van Wesemael; Heather Workman; Terry A Braun; Thomas L Casavant; Ignacio del Castillo; Adam P DeLuca; Corey W Goodman; Miguel A Moreno-Pelayo
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Human mutation 2011;32(7):825-34.
2011: Amin Tabatabaiefar; M H Chaleshtori; M R Nooridaloii; F Alasti; L Shariati; E Farrokhi; Erik Fransen; Guy Van Camp
DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment.
Clinical genetics 2011;79(6):594-8.
2011: Isabelle Schrauwen; N J D Weegerink; Erik Fransen; C Claes; R J E Pennings; C W R J Cremers; Patrick Huygen; H P M Kunst; Guy Van Camp
A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44.
Clinical genetics 2011;79(5):495-7.
2011: Nicole J D Weegerink; Isabelle Schrauwen; Patrick Huygen; Ronald J E Pennings; Cor W R J Cremers; Guy Van Camp; Henricus P M Kunst
Phenotype of the first otosclerosis family linked to OTSC10.
The Laryngoscope 2011;121(4):838-45.
2010: Silvia Naranjo; Krysta Voesenek; Elisa de la Calle-Mustienes; Alex Robert-Moreno; Haris Kokotas; Maria Grigoriadou; John Economides; Guy Van Camp; Nele Hilgert; Felipe Moreno; Berta Alsina; Michael B Petersen; Hannie Kremer; José Luis Gómez-Skarmeta
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.
Human genetics 2010;128(4):411-9.
2010: Kelly Demeester; Astrid van Wieringen; Jan Hendrickx; Vedat Topsakal; Jeroen Huyghe; Erik Fransen; Lut Van Laer; Guy Van Camp; Paul Van de Heyning
Heritability of audiometric shape parameters and familial aggregation of presbycusis in an elderly Flemish population.
Hearing research 2010;265(1-2):1-10.
2010: Isabelle Schrauwen; Guy Van Camp
The etiology of otosclerosis: a combination of genes and environment.
The Laryngoscope 2010;120(6):1195-202.
2010: Mariem Ben Saïd; Mounira Hmani-Aifa; Imen Amar; Shahid Mahmood Baig; Mirna Mustapha; Sedigheh Delmaghani; Abdelaziz Tlili; Abdelmonem Ghorbel; Hammadi Ayadi; Guy Van Camp; Richard J H Smith; Mustafa Tekin; Saber Masmoudi
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.
Genetic testing and molecular biomarkers 2010;14(3):307-11.
2010: Lut Van Laer; Jeroen R Huyghe; Samuli Hannula; E Van Eyken; Dietrich A Stephan; Elina Mäki-Torkko; Pekka Aikio; Erik Fransen; Alana Lysholm-Bernacchi; Martti Sorri; Matthew Huentelman; Guy Van Camp
A genome-wide association study for age-related hearing impairment in the Saami.
European journal of human genetics : EJHG 2010;18(6):685-93.
2010: Isabelle Schrauwen; Megan Ealy; Erik Fransen; Kathleen Vanderstraeten; Melissa Thys; Nicole C Meyer; Marcel Cosgarea; Alexander M Huber; Manuela Mazzoli; Markus Pfister; Richard J H Smith; Guy Van Camp
Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.
Human genetics 2010;127(2):155-62.
2010: Fatemeh Alasti; Nils Peeters; Wim Wuyts; Mohammad Hossein Sanati; Guy Van Camp
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.
Human genetics 2010;127(1):116.
2010: Vedat Topsakal; Nele Hilgert; Joost van Dinther; Lisbeth Tranebjaerg; Nanna D Rendtorff; Andrzej Zarowski; Erwin Offeciers; Guy Van Camp; Paul Van de Heyning
Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Audiology & neuro-otology 2010;15(4):211-20.
2009: Isabelle Schrauwen; Melissa Thys; Kathleen Vanderstraeten; Erik Fransen; Megan Ealy; Cor W R J Cremers; Ingeborg Dhooge; Paul Van de Heyning; Erwin Offeciers; Richard J H Smith; Guy Van Camp
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2009;30(8):1079-83.
2009: Malgorzata Pawelczyk; Lut Van Laer; Erik Fransen; Elzbieta Rajkowska; Annelies Konings; Per-Inge Carlsson; Erik Borg; Guy Van Camp; Mariola Sliwinska-Kowalska
Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss.
Annals of human genetics 2009;73(Pt 4):411-21.
2009: Nele Hilgert; Richard J H Smith; Guy Van Camp
Function and expression pattern of nonsyndromic deafness genes.
Current molecular medicine 2009;9(5):546-64.
2009: F Alasti; Guy Van Camp
Genetics of microtia and associated syndromes.
Journal of medical genetics 2009;46(6):361-9.
2009: Kelly Demeester; Astrid van Wieringen; Jan Hendrickx; Vedat Topsakal; Erik Fransen; Lut Van Laer; Guy Van Camp; Paul Van de Heyning
Audiometric shape and presbycusis.
International journal of audiology 2009;48(4):222-32.
2009: N Hilgert; Kimia Kahrizi; Nele Dieltjens; N Bazazzadegan; Hossein Najmabadi; R J H Smith; Guy Van Camp
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.
Journal of medical genetics 2009;46(4):272-6.
2009: Isabelle Schrauwen; Megan Ealy; Matthew Huentelman; Melissa Thys; Nils Homer; Kathleen Vanderstraeten; Erik Fransen; Jason J Corneveaux; David Craig; Mireille Claustres; Cor W R J Cremers; Ingeborg Dhooge; Paul Van de Heyning; Robert Vincent; Erwin Offeciers; Richard J H Smith; Guy Van Camp
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
American journal of human genetics 2009;84(3):328-38.
2009: Melissa Thys; Isabelle Schrauwen; Kathleen Vanderstraeten; Nele Dieltjens; Erik Fransen; M Ealy; C W R J Cremers; Paul Van de Heyning; R Vincent; Erwin Offeciers; R H Smith; Guy Van Camp
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.
Annals of human genetics 2009;73(2):171-5.
2009: A Konings; Lut Van Laer; A Wiktorek-Smagur; Elzbieta Rajkowska; M Pawelczyk; Per-Inge Carlsson; Marie-Louise Bondeson; Adam Dudarewicz; Ann Vandevelde; Erik Fransen; J Huyghe; Erik Borg; Mariola Sliwinska-Kowalska; Guy Van Camp
Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations.
Annals of human genetics 2009;73(2):215-24.
2009: Nele Hilgert; Kelly Monahan; Kiyoto Kurima; Cindy Li; Rick A Friedman; Andrew J Griffith; Guy Van Camp
Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.
Journal of human genetics 2009;54(3):188-90.
2009: Karen Vrijens; Guy Van Camp; Lut Van Laer
Characterization of the murine Dfna5 promoter and regulatory regions.
Gene 2009;432(1-2):82-90.
2009: Annelies Konings; Lut Van Laer; Sophie Michel; Malgorzata Pawelczyk; Per-Inge Carlsson; Marie-Louise Bondeson; Elzbieta Rajkowska; Adam Dudarewicz; Ann Vandevelde; Erik Fransen; Jeroen Huyghe; Erik Borg; Mariola Sliwinska-Kowalska; Guy Van Camp
Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations.
European journal of human genetics : EJHG 2009;17(3):329-35.
2009: Nele Hilgert; Richard J H Smith; Guy Van Camp
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Mutation research 2009;681(2-3):189-96.
2009: Michael S Hildebrand; Dylan Tack; Adam Deluca; In Ae Hur; Jana M Van Rybroek; Sarah J McMordie; Ann Muilenburg; David P Hoskinson; Guy Van Camp; Myles L Pensak; Ian S Storper; Patrick Huygen; Thomas L Casavant; Richard J H Smith
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
American journal of medical genetics. Part A 2009;149A(2):280-5.
2009: Cristina Zadro; Maria Stella Alemanno; Emanuele Bellacchio; Romina Ficarella; Francesca Donaudy; Salvatore Melchionda; Leopoldo Zelante; Raquel Rabionet; Nele Hilgert; Xavier Estivill; Guy Van Camp; Paolo Gasparini; Massimo Carella
Are MYO1C and MYO1F associated with hearing loss?
Biochimica et biophysica acta 2009;1792(1):27-32.
2008: Annelies Konings; Guy Van Camp; Alain Goethals; E Van Eyken; Ann Vandevelde; Jamila Ben Azza; Nils Peeters; Wim Wuyts; Hubert Smeets; Lut Van Laer
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.
Mitochondrion 2008;8(5-6):377-82.
2008: Haris Kokotas; Lut Van Laer; Maria Grigoriadou; Vasiliki iliadou; John Economides; Stella Pomoni; Andreas Pampanos; Nikolaos Eleftheriades; Elisabeth Ferekidou; Stavros Korres; Aglaia Giannoulia-Karantana; Guy Van Camp; Michael B Petersen
Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population.
American journal of medical genetics. Part A 2008;146A(22):2879-84.
2008: Karen Vrijens; Lut Van Laer; Guy Van Camp
Human hereditary hearing impairment: mouse models can help to solve the puzzle.
Human genetics 2008;124(4):325-48.
2008: N Hilgert; F Alasti; Nele Dieltjens; B Pawlik; Bernd Wollnik; O Uyguner; S Delmaghani; D Weil; C Petit; E Danis; T Yang; E Pandelia; Michael B Petersen; Dirk Goossens; J D Favero; Mohammad Hossein Sanati; R J H Smith; Guy Van Camp
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
Clinical genetics 2008;74(3):223-32.
2008: Nele Hilgert; Vedat Topsakal; Joost van Dinther; Erwin Offeciers; Paul Van de Heyning; Guy Van Camp
A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
European journal of human genetics : EJHG 2008;16(5):593-602.
2008: Fatemeh Alasti; Abdorrahim Sadeghi; Mohammad Hossein Sanati; Mohammad Farhadi; Elliot Stollar; Thomas Somers; Guy Van Camp
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.
American journal of human genetics 2008;82(4):982-91.
2008: Insaf Bel Hadj Ali; Melissa Thys; Najeh Beltaief; Isabelle Schrauwen; Nele Hilgert; Kathleen Vanderstraeten; Nele Dieltjens; Emna Mnif; Slah Hachicha; Guazi Besbes; Saïda Ben Arab; Guy Van Camp
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.
Human genetics 2008;123(3):267-72.
2008: Isabelle Schrauwen; Melissa Thys; Kathleen Vanderstraeten; Erik Fransen; Nele Dieltjens; Jeroen R Huyghe; Megan Ealy; Mireille Claustres; Cor R W J Cremers; Ingeborg Dhooge; Frank Declau; Paul Van de Heyning; Robert Vincent; Thomas Somers; Erwin Offeciers; Richard J H Smith; Guy Van Camp
Association of bone morphogenetic proteins with otosclerosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2008;23(4):507-16.
2008: Fatemeh Alasti; Mohammad Hossein Sanati; Amir Hossein Behrouzifard; Abdorrahim Sadeghi; Arjan de Brouwer; Hannie Kremer; Richard J H Smith; Guy Van Camp
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
International journal of pediatric otorhinolaryngology 2008;72(2):249-55.
2007: Melissa Thys; Isabelle Schrauwen; Kathleen Vanderstraeten; Koen Janssens; Nele Dieltjens; Kris Van Den Bogaert; Erik Fransen; Wenjie Chen; Megan Ealy; Mireille Claustres; Cor R W J Cremers; Ingeborg Dhooge; Frank Declau; Jos Claes; Paul Van de Heyning; Robert Vincent; Thomas Somers; Erwin Offeciers; Richard J H Smith; Guy Van Camp
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Human molecular genetics 2007;16(17):2021-30.
2007: Annelies Konings; Lut Van Laer; Malgorzata Pawelczyk; Per-Inge Carlsson; Marie-Louise Bondeson; Elzbieta Rajkowska; Adam Dudarewicz; Ann Vandevelde; Erik Fransen; Jeroen Huyghe; Erik Borg; Mariola Sliwinska-Kowalska; Guy Van Camp
Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations.
Human molecular genetics 2007;16(15):1872-83.
2007: Robert J Pauw; Patrick Huygen; Melissa Thys; Guy Van Camp; Frank B M Joosten; Cor W R J Cremers
Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7.
American journal of medical genetics. Part A 2007;143A(14):1613-22.
2007: Nicole C Meyer; Fatemeh Alasti; Carla Nishimura; Parisa Imanirad; Kimia Kahrizi; Yasser Riazalhosseini; Mahdi Malekpour; Nafiseh Kochakian; Payman Jamali; Guy Van Camp; Richard J H Smith; Hossein Najmabadi
Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
American journal of medical genetics. Part A 2007;143A(14):1623-9.
2007: Melissa Thys; Kris Van Den Bogaert; Vasiliki iliadou; Kathleen Vanderstraeten; Nele Dieltjens; Isabelle Schrauwen; Wenjie Chen; Nikolaos Eleftheriades; Maria Grigoriadou; Robert J Pauw; Cor R W J Cremers; Richard J H Smith; Michael B Petersen; Guy Van Camp
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
European journal of human genetics : EJHG 2007;15(3):362-8.
2007: K Demeester; A van Wieringen; Jan Hendrickx; Vedat Topsakal; E Fransen; Lut Van Laer; D De Ridder; Guy Van Camp; Paul Van de Heyning
Prevalence of tinnitus and audiometric shape.
B-ENT 2007;3 Suppl 7():37-49.
2007: E Van Eyken; Guy Van Camp; Jan Hendrickx; K Demeester; Ann Vandevelde; J Ben Azza; Paul Van de Heyning; Lut Van Laer
A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation.
Genetic testing 2007;11(3):231-4.
2007: E Van Eyken; Guy Van Camp; Lut Van Laer
The complexity of age-related hearing impairment: contributing environmental and genetic factors.
Audiology & neuro-otology 2007;12(6):345-58.
2007: Lut Van Laer; Nicole C Meyer; Mahdi Malekpour; Yasser Riazalhosseini; Mahdi Moghannibashi; Kimia Kahrizi; Ann Vandevelde; Fatemeh Alasti; Hossein Najmabadi; Guy Van Camp; Richard J H Smith
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
Journal of human genetics 2007;52(6):549-52.
2007: Frank Declau; Kris Van Den Bogaert; Paul Van de Heyning; Erwin Offeciers; Paul J Govaerts; Guy Van Camp
Phenotype-genotype correlations in otosclerosis: clinical features of OTSC2.
Advances in oto-rhino-laryngology 2007;65():114-8.
2006: E Van Eyken; Lut Van Laer; Erik Fransen; Vedat Topsakal; Nele Lemkens; W Laureys; N Nelissen; Ann Vandevelde; T Wienker; Paul Van de Heyning; Guy Van Camp
KCNQ4: a gene for age-related hearing impairment?
Human mutation 2006;27(10):1007-16.
2006: Karen Vrijens; Sofie Thys; Marcel T G De Jeu; Andrei A Postnov; Markus Pfister; Luk Cox; An Zwijsen; Viviane Van Hoof; Marcus Mueller; Nora M De Clerck; Chris I De Zeeuw; Guy Van Camp; Lut Van Laer
Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome.
Neurobiology of disease 2006;24(1):28-40.
2006: Guy Van Camp; Rikkert L Snoeckx; Nele Hilgert; Jenneke van den Ende; Hisakumi Fukuoka; Michio Wagatsuma; Hiroaki Suzuki; R M Erica Smets; Filip Vanhoenacker; Frank Declau; Paul Van de Heyning; Shin-ichi Usami
A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
American journal of human genetics 2006;79(3):449-57.
2006: Vedat Topsakal; Erik Fransen; Sébastien Schmerber; Frank Declau; Matthew Yung; Frans Gordts; Guy Van Camp; Paul Van de Heyning
Audiometric analyses confirm a cochlear component, disproportional to age, in stapedial otosclerosis.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2006;27(6):781-7.
2006: Lut Van Laer; Per-Inge Carlsson; Natacha Ottschytsch; Marie-Louise Bondeson; Annelies Konings; Ann Vandevelde; Nele Dieltjens; Erik Fransen; Dirk J Snyders; Erik Borg; Adam L Raes; Guy Van Camp
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.
Human mutation 2006;27(8):786-95.
2006: Sedigheh Delmaghani; Francisco del Castillo; Vincent Michel; Michel Leibovici; Asadollah Aghaie; Uri Ron; Lut Van Laer; Nir Ben-Tal; Guy Van Camp; Dominique Weil; Francina Langa; Mark Lathrop; Paul Avan; Christine Petit
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Nature genetics 2006;38(7):770-8.
2006: Robert J Pauw; Els M R De Leenheer; Kris Van Den Bogaert; Patrick Huygen; Guy Van Camp; Frank B M Joosten; Cor W R J Cremers
The phenotype of the first otosclerosis family linked to OTSC5.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2006;27(3):308-15.
2006: Vasiliki iliadou; Kris Van Den Bogaert; Nikolaos Eleftheriades; George Aperis; Kathleen Vanderstraeten; Erik Fransen; Melissa Thys; Maria Grigoriadou; Andreas Pampanos; John Economides; Theophilos Iliades; Guy Van Camp; Michael B Petersen
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.
International journal of pediatric otorhinolaryngology 2006;70(4):631-7.
2005: Wei Chen; Kimia Kahrizi; Nicole C Meyer; Yasser Riazalhosseini; Guy Van Camp; Hossein Najmabadi; R J H Smith
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
Journal of medical genetics 2005;42(10):e61.
2005: Arjan de Brouwer; Henricus P M Kunst; Alice Krebsova; Karin van Asseldonk; André Reis; Rikkert L Snoeckx; Guy Van Camp; Cor W R J Cremers; Frans P M Cremers; Hannie Kremer
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.
American journal of medical genetics. Part A 2005;137(1):41-6.
2005: Lut Van Laer; Markus Pfister; Sofie Thys; Karen Vrijens; Marcus Mueller; Lieve Umans; Lutgarde Serneels; Luc Van Nassauw; Frank Kooy; Richard J H Smith; Jean-Pierre Timmermans; Fred Van Leuven; Guy Van Camp
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells.
Neurobiology of disease 2005;19(3):386-99.
2005: P Kevin Legan; Victoria A Lukashkina; Richard J Goodyear; Andrei N Lukashkin; Kristien Verhoeven; Guy Van Camp; Ian J Russell; Guy P Richardson
A deafness mutation isolates a second role for the tectorial membrane in hearing.
Nature neuroscience 2005;8(8):1035-42.
2005: Francisco del Castillo; Montserrat Rodríguez-Ballesteros; Araceli Alvarez; Tim Hutchin; Emanuela Leonardi; Camila Andréa de Oliveira; Hela Azaiez; Zippora Brownstein; M R Avenarius; Sandrine Marlin; A Pandya; Hashem Shahin; Kirby R Siemering; Dominique Weil; W Wuyts; Luis A Aguirre; Yolanda Martín; Miguel A Moreno-Pelayo; Manuela Villamar; Karen B Avraham; Hans-Henrik M Dahl; Moien Kanaan; Walter E Nance; Christine Petit; R J H Smith; Guy Van Camp; Edi Sartorato; Alessandra Murgia; Felipe Moreno; Ignacio del Castillo
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
Journal of medical genetics 2005;42(7):588-94.
2005: Rikkert L Snoeckx; Dalia M Hassan; Nadia M Kamal; Kris Van Den Bogaert; Guy Van Camp
Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
Human mutation 2005;26(1):60-1.
2005: Rikkert L Snoeckx; Bulantrisna Djelantik; Lut Van Laer; Paul Van de Heyning; Guy Van Camp
GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population.
American journal of medical genetics. Part A 2005;135(2):126-9.
2005: Per-Inge Carlsson; Lut Van Laer; Erik Borg; Marie-Louise Bondeson; Melissa Thys; Erik Fransen; Guy Van Camp
The influence of genetic variation in oxidative stress genes on human noise susceptibility.
Hearing research 2005;202(1-2):87-96.
2005: Vedat Topsakal; Guy Van Camp; Paul Van de Heyning
Genetic testing for hearing impairment.
B-ENT 2005;1(3):125-35.
2004: Hela Azaiez; G Parker Chamberlin; Stephanie M Fischer; Chelsea L Welp; Sai D Prasad; R Thomas Taggart; Ignacio del Castillo; Guy Van Camp; Richard J H Smith
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Human mutation 2004;24(4):305-11.
2004: Kris Van Den Bogaert; Els M R De Leenheer; Wenjie Chen; Y Lee; P Nürnberg; Ronald Pennings; Kathleen Vanderstraeten; Melissa Thys; Cor W R J Cremers; R J H Smith; Guy Van Camp
A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.
Journal of medical genetics 2004;41(6):450-3.
2004: Lut Van Laer; Karen Vrijens; Sofie Thys; V F I Van Tendeloo; R J H Smith; Dirk R Van Bockstaele; Jean-Pierre Timmermans; Guy Van Camp
DFNA5: hearing impairment exon instead of hearing impairment gene?
Journal of medical genetics 2004;41(6):401-6.
2004: Erik Fransen; Lut Van Laer; Nele Lemkens; Goele Caethoven; Kris Flothmann; Paul J Govaerts; Paul Van de Heyning; Guy Van Camp
A novel Z-score-based method to analyze candidate genes for age-related hearing impairment.
Ear and hearing 2004;25(2):133-41.
2004: Francesca Donaudy; Rikkert L Snoeckx; Markus Pfister; Hans-Peter Zenner; nikolaus blin; Mariateresa Di Stazio; Antonella Ferrara; Carmela Lanzara; Romina Ficarella; Frank Declau; Carsten M Pusch; Peter Nürnberg; Salvatore Melchionda; Leopoldo Zelante; Ester Ballana; Xavier Estivill; Guy Van Camp; Paolo Gasparini; Anna Savoia
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
American journal of human genetics 2004;74(4):770-6.
2004: Kim Cryns; Eva Orzan; Alessandra Murgia; Patrick Huygen; Felipe Moreno; Ignacio del Castillo; G Parker Chamberlin; Hela Azaiez; Sai Prasad; Robert A Cucci; Emanuela Leonardi; Rikkert L Snoeckx; Paul J Govaerts; Paul H Van De Heyning; C M Van de Heyning; R J H Smith; Guy Van Camp
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
Journal of medical genetics 2004;41(3):147-54.
2004: Kim Cryns; Arjan M van Alphen; Michiel P Van Spaendonck; Paul H Van De Heyning; Jean-Pierre Timmermans; Chris I De Zeeuw; Guy Van Camp
Circling behavior in the Ecl mouse is caused by lateral semicircular canal defects.
The Journal of comparative neurology 2004;468(4):587-95.
2004: Rikkert L Snoeckx; Hannie Kremer; Robbert J H Ensink; Kris Flothmann; Arjan de Brouwer; R J H Smith; Cor W R J Cremers; Guy Van Camp
A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.
Journal of medical genetics 2004;41(1):11-3.
2004: Sai Prasad; Karen A Kölln; Robert A Cucci; Richard C Trembath; Guy Van Camp; Richard J H Smith
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
American journal of medical genetics. Part A 2004;124A(1):1-9.
2004: Ronald Pennings; Patrick Huygen; Jody M W van den Ouweland; Kim Cryns; Lambert D Dikkeschei; Guy Van Camp; Cor W R J Cremers
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.
Audiology & neuro-otology 2004;9(1):51-62.
2004: Kim Cryns; Guy Van Camp
Deafness genes and their diagnostic applications.
Audiology & neuro-otology 2004;9(1):2-22.
2003: Ignacio del Castillo; Miguel A Moreno-Pelayo; Francisco del Castillo; Zippora Brownstein; Sandrine Marlin; Quint Adina; David J Cockburn; Arti Pandya; Kirby R Siemering; G Parker Chamberlin; Ester Ballana; Wim Wuyts; Andréa T Maciel-Guerra; Araceli Alvarez; Manuela Villamar; Mordechai Shohat; Dvorah Abeliovich; Hans-Henrik M Dahl; Xavier Estivill; Paolo Gasparini; Tim Hutchin; Walter E Nance; Edi Sartorato; Richard J H Smith; Guy Van Camp; Karen B Avraham; Christine Petit; Felipe Moreno
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
American journal of human genetics 2003;73(6):1452-8.
2003: Ronald Pennings; Kim Cryns; Patrick Huygen; Guy Van Camp; Cor W R J Cremers
[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)].
Nederlands tijdschrift voor geneeskunde 2003;147(44):2170-2.
2003: Kim Cryns; Theru A Sivakumaran; Jody M W van den Ouweland; Ronald Pennings; Cor W R J Cremers; Kris Flothmann; Terry-Lynn Young; Richard J H Smith; Marci M Lesperance; Guy Van Camp
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Human mutation 2003;22(4):275-87.
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: Eugene H Chang; Guy Van Camp; Richard J H Smith
The role of connexins in human disease.
Ear and hearing 2003;24(4):314-23.
2003: Lut Van Laer; Kim Cryns; Richard J H Smith; Guy Van Camp
Nonsyndromic hearing loss.
Ear and hearing 2003;24(4):275-88.
2003: Johannes M W van ven Ouweland; Kim Cryns; Ronald Pennings; Inge Walraven; George M C Janssen; J Antonie Maassen; Bernard F E Veldhuijzen; Alexander B Arntzenius; Dick Lindhout; Cor W R J Cremers; Guy Van Camp; Lambert D Dikkeschei
Molecular characterization of WFS1 in patients with Wolfram syndrome.
The Journal of molecular diagnostics : JMD 2003;5(2):88-95.
2003: Ronald Pennings; Steven J H Bom; Kim Cryns; Kris Flothmann; Patrick Huygen; Hannie Kremer; Guy Van Camp; Cor W R J Cremers
Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).
Archives of otolaryngology--head & neck surgery 2003;129(4):421-6.
2003: Erik Fransen; Nele Lemkens; Lut Van Laer; Guy Van Camp
Age-related hearing impairment (ARHI): environmental risk factors and genetic prospects.
Experimental gerontology 2003;38(4):353-9.
2003: Kim Cryns; Sofie Thys; Lut Van Laer; Yoshitomo Oka; Markus Pfister; Luc Van Nassauw; Richard J H Smith; Jean-Pierre Timmermans; Guy Van Camp
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells.
Histochemistry and cell biology 2003;119(3):247-56.
2002: Lut Van Laer; Anita L DeStefano; Richard H Myers; Kris Flothmann; Sofie Thys; Erik Fransen; George A Gates; Guy Van Camp; Clinton T Baldwin
Is DFNA5 a susceptibility gene for age-related hearing impairment?
European journal of human genetics : EJHG 2002;10(12):883-6.
2002: Steven J H Bom; Guy Van Camp; Kim Cryns; Ronald J C Admiraal; Patrick Huygen; Cor W R J Cremers
Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2002;23(6):876-84.
2002: Els M R De Leenheer; Diederick van Zuijlen; Lut Van Laer; Guy Van Camp; Patrick Huygen; Egbert H Huizing; Cor W R J Cremers
Further delineation of the DFNA5 phenotype: results of speech recognition tests.
The Annals of otology, rhinology, and laryngology 2002;111(7 Pt 1):639-41.
2002: Wenjie Chen; Colleen Campbell; Glenn E Green; K Van Den Bogaert; C Komodikis; Leonidas Manolidis; E Aconomou; Y Kyamides; Kyproula Christodoulou; C Faghel; C M Giguére; Raye L Alford; Spiros Manolidis; Guy Van Camp; R J H Smith
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.
Journal of medical genetics 2002;39(7):473-7.
2002: Guy Van Camp; Paul J Coucke; Jiro Akita; Erik Fransen; Satoko Abe; Els M R De Leenheer; Patrick Huygen; Cor W R J Cremers; Shin-ichi Usami
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
Human mutation 2002;20(1):15-9.
2002: Kim Cryns; Markus Pfister; Ronald Pennings; Steven J H Bom; Kris Flothmann; Goele Caethoven; Hannie Kremer; Isabelle Schatteman; Karen A Köln; Tímea Tóth; Susan Kupka; nikolaus blin; Peter Nürnberg; Holger Thiele; Paul H Van De Heyning; William Reardon; Dafydd Stephens; Cor W R J Cremers; Richard J H Smith; Guy Van Camp
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Human genetics 2002;110(5):389-94.
2002: Kris Van Den Bogaert; Paul J Govaerts; Els M R De Leenheer; Isabelle Schatteman; Margriet Verstreken; Wenjie Chen; Frank Declau; Cor W R J Cremers; Paul H Van De Heyning; F Erwin Offeciers; Thomas Somers; R J H Smith; Guy Van Camp
Otosclerosis: a genetically heterogeneous disease involving at least three different genes.
Bone 2002;30(4):624-30.
2002: Kim Cryns; Michiel P Van Spaendonck; Kris Flothmann; Arjan M van Alphen; Paul H Van De Heyning; Jean-Pierre Timmermans; Chris I De Zeeuw; Guy Van Camp
Vestibular dysfunction in the epistatic circler mouse is caused by phenotypic interaction of one recessive gene and three modifier genes.
Genome research 2002;12(4):613-7.
2002: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
European journal of human genetics : EJHG 2002;10(3):197-203.
2002: Els M R De Leenheer; Patrick Huygen; Paul J Coucke; Ronald J C Admiraal; Guy Van Camp; Cor W R J Cremers
Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.
The Annals of otology, rhinology, and laryngology 2002;111(3 Pt 1):267-74.
2002: Nele Lemkens; Katrien Vermeire; Jan P L Brokx; Erik Fransen; Guy Van Camp; Paul H Van De Heyning
Interpretation of pure-tone thresholds in sensorineural hearing loss (SNHL): a review of measurement variability and age-specific references.
Acta oto-rhino-laryngologica Belgica 2002;56(4):341-52.
2002: Guy Van Camp
Molecular diagnosis of neurosensory deafness: the gap between basic research and diagnostic application is increasing.
Acta oto-rhino-laryngologica Belgica 2002;56(4):337-40.
2002: Christel Stinckens; Patrick Huygen; Guy Van Camp; Cor W R J Cremers
Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss.
Advances in oto-rhino-laryngology 2002;61():131-41.
2002: Patrick Huygen; Steven J H Bom; Guy Van Camp; Cor W R J Cremers
Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21.
Advances in oto-rhino-laryngology 2002;61():98-106.
2002: Els M R De Leenheer; Patrick Huygen; Sigrid Wayne; Margriet Verstreken; Frank Declau; Guy Van Camp; Paul H Van De Heyning; Richard J H Smith; Cor W R J Cremers
DFNA10/EYA4--the clinical picture.
Advances in oto-rhino-laryngology 2002;61():73-8.
2002: Paul J Govaerts; Geert De Ceulaer; Kristin Daemers; Kristien Verhoeven; Guy Van Camp; Isabelle Schatteman; Margriet Verstreken; Patrick J Willems; Thomas Somers; F Erwin Offeciers
Clinical presentation of DFNA8-DFNA12.
Advances in oto-rhino-laryngology 2002;61():60-5.
2002: Els M R De Leenheer; Diederick van Zuijlen; Lut Van Laer; Guy Van Camp; Patrick Huygen; Egbert H Huizing; Cor W R J Cremers
Clinical features of DFNA5.
Advances in oto-rhino-laryngology 2002;61():53-9.
2002: Els M R De Leenheer; Robbert J H Ensink; Henricus P M Kunst; Henri Marres; Zohreh Talebizadeh; Frank Declau; Shelley D Smith; Shin-ichi Usami; Paul H Van De Heyning; Guy Van Camp; Patrick Huygen; Cor W R J Cremers
DFNA2/KCNQ4 and its manifestations.
Advances in oto-rhino-laryngology 2002;61():41-6.
2001: Wim I M Verhagen; Steven J H Bom; Erik Fransen; Guy Van Camp; Patrick Huygen; E J Theunissen; Cor W R J Cremers
Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.
Clinical otolaryngology and allied sciences 2001;26(6):477-83.
2001: Christel Stinckens; Patrick Huygen; Frank B M Joosten; Guy Van Camp; BJ Otten; Cor W R J Cremers
Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome.
International journal of pediatric otorhinolaryngology 2001;61(3):207-15.
2001: Margriet Verstreken; Frank Declau; Floris L Wuyts; P D'Haese; Guy Van Camp; Erik Fransen; Luc van den Hauwe; S Buyle; Rafaël Smets; Louw Feenstra; Anja Van der Stappen; Paul H Van De Heyning
Hereditary otovestibular dysfunction and Ménière's disease in a large Belgian family is caused by a missense mutation in the COCH gene.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2001;22(6):874-81.
2001: Irina N Bespalova; Guy Van Camp; Steven J H Bom; David J Brown; Kim Cryns; A T DeWan; Ayse E Erson; Kris Flothmann; Henricus P M Kunst; P Kurnool; Theru A Sivakumaran; Cor W R J Cremers; S M Leal; Margit Burmeister; Marci M Lesperance
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
Human molecular genetics 2001;10(22):2501-8.
2001: Steven J H Bom; Els M R De Leenheer; François X Lemaire; Martijn H Kemperman; Wim I M Verhagen; Henri Marres; Henricus P M Kunst; Robbert J H Ensink; Arjan J Bosman; Guy Van Camp; Frans P M Cremers; Patrick Huygen; Cor W R J Cremers
Speech recognition scores related to age and degree of hearing impairment in DFNA2/KCNQ4 and DFNA9/COCH.
Archives of otolaryngology--head & neck surgery 2001;127(9):1045-8.
2001: Robbert J H Ensink; Patrick Huygen; Rikkert L Snoeckx; G Caethoven; Guy Van Camp; Cor W R J Cremers
A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13.
Clinical otolaryngology and allied sciences 2001;26(4):310-6.
2001: AH Chen; Dietrich A Stephan; T Hasson; Kunihiro Fukushima; C M Nelissen; Arthur F Chen; A I Jun; Arabandi Ramesh; Guy Van Camp; Richard J H Smith
MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
Archives of otolaryngology--head & neck surgery 2001;127(8):921-5.
2001: Lut Van Laer; P Coucke; Robert F Mueller; Goele Caethoven; Kris Flothmann; Sai D Prasad; G Parker Chamberlin; MJ Houseman; Graham Taylor; C M Van de Heyning; Erik Fransen; J Rowland; Robert A Cucci; Richard J H Smith; Guy Van Camp
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
Journal of medical genetics 2001;38(8):515-8.
2001: Tim Hutchin; N C Navarro-Coy; Guy Van Camp; Valeria Tiranti; Massimo Zeviani; M Schuelke; M Jaksch; VE Newton; Robert F Mueller
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
European journal of human genetics : EJHG 2001;9(5):385-7.
2001: Kris Van Den Bogaert; Paul J Govaerts; Isabelle Schatteman; MR Brown; Goele Caethoven; F Erwin Offeciers; Thomas Somers; Frank Declau; P Coucke; Paul Van de Heyning; Richard J H Smith; Guy Van Camp
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
American journal of human genetics 2001;68(2):495-500.
2001: Sigrid Wayne; Nahid G Robertson; Frank Declau; N Chen; Kristien Verhoeven; Sai Prasad; L Tranebjärg; Cynthia C Morton; A F Ryan; Guy Van Camp; Richard J H Smith
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
Human molecular genetics 2001;10(3):195-200.
2001: Lut Van Laer; Guy Van Camp
Genes in the ear: what have we learned over the last years?
Scandinavian audiology. Supplementum 2001;(53):44-53.
2001: Erik Fransen; Margriet Verstreken; Steven J H Bom; François X Lemaire; Martijn H Kemperman; Yvette J M de Kok; Floris L Wuyts; Wim I M Verhagen; Patrick Huygen; Wyman T McGuirt; R J Smith; L V Van Maldergem; Frank Declau; Cor W R J Cremers; Paul H Van De Heyning; Frans P M Cremers; Guy Van Camp
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.
Journal of medical genetics 2001;38(1):61-5.
2000: Margriet Verstreken; Frank Declau; Isabelle Schatteman; D Van Velzen; Kristien Verhoeven; Guy Van Camp; Patrick J Willems; E W Kuhweide; E Verhaert; P D'Haese; Floris L Wuyts; Paul H Van De Heyning
Audiometric analysis of a Belgian family linked to the DFNA10 locus.
The American journal of otology 2000;21(5):675-81.
2000: Peter Van Hauwe; Paul J Coucke; Robbert J H Ensink; Patrick Huygen; Cor W R J Cremers; Guy Van Camp
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.
American journal of medical genetics 2000;93(3):184-7.
2000: Kristien Verhoeven; T Fagerheim; Sai Prasad; Sigrid Wayne; F De Clau; Wendy Balemans; Margriet Verstreken; Isabelle Schatteman; B Solem; Paul Van de Heyning; L Tranebjärg; Richard J H Smith; Guy Van Camp
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.
Human genetics 2000;107(1):7-11.
2000: Wim I M Verhagen; Steven J H Bom; Patrick Huygen; Erik Fransen; Guy Van Camp; Cor W R J Cremers
Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9).
Archives of neurology 2000;57(7):1045-7.
2000: Michiel P Van Spaendonck; Kim Cryns; Paul H Van De Heyning; Dietrich W Scheuermann; Guy Van Camp; Jean-Pierre Timmermans
High resolution imaging of the mouse inner ear by microtomography: a new tool in inner ear research.
The Anatomical record 2000;259(2):229-36.
2000: Henricus P M Kunst; C Huybrechts; Henri Marres; Patrick Huygen; Guy Van Camp; Cor W R J Cremers
The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.
The American journal of otology 2000;21(2):181-7.
2000: Robert A Cucci; Sai Prasad; Philip M Kelley; Glenn E Green; Katrien Storm; S Willocx; ES Cohn; Guy Van Camp; Richard J H Smith
The M34T allele variant of connexin 26.
Genetic testing 2000;4(4):335-44.
2000: Wyman T McGuirt; Marci M Lesperance; E R Wilcox; AH Chen; Guy Van Camp; Richard J H Smith
Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13.
Advances in oto-rhino-laryngology 2000;56():84-96.
2000: Guy Van Camp; Paul J Coucke; Peter Van Hauwe; Lut Van Laer; Kristien Verhoeven; Floris L Wuyts; Richard J H Smith
DFNA 2, 5, 8, 12.
Advances in oto-rhino-laryngology 2000;56():68-77.
2000: Robbert J H Ensink; Patrick Huygen; Peter Van Hauwe; P Coucke; Cor W R J Cremers; Guy Van Camp
A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2000;257(2):62-7.
1999: Wyman T McGuirt; Sai D Prasad; Andrew J Griffith; Henricus P M Kunst; Glenn E Green; Karl B Shpargel; C Runge; C Huybrechts; Robert F Mueller; E Lynch; Mary-Claire King; H G Brunner; Cor W R J Cremers; M Takanosu; S W Li; M Arita; Richard Mayne; D J Prockop; Guy Van Camp; Richard J H Smith
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
Nature genetics 1999;23(4):413-9.
1999: Robert F Mueller; A Nehammer; A Middleton; MJ Houseman; Graham Taylor; M Bitner-Glindzciz; Guy Van Camp; M Parker; ID Young; Adrian Davis; VE Newton; NJ Lench
Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings.
International journal of pediatric otorhinolaryngology 1999;50(1):3-13.
1999: Richard J H Smith; Guy Van Camp
Non-syndromic hearing impairment: gene linkage and cloning.
International journal of pediatric otorhinolaryngology 1999;49 Suppl 1():S159-63.
1999: Erik Fransen; Guy Van Camp
The COCH gene: a frequent cause of hearing impairment and vestibular dysfunction?
British journal of audiology 1999;33(5):297-302.
1999: Peter Van Hauwe; P Coucke; Guy Van Camp
The DFNA2 locus for hearing impairment: two genes regulating K+ ion recycling in the inner ear.
British journal of audiology 1999;33(5):285-9.
1999: Richard J H Smith; Guy Van Camp
Cloning genes for non-syndromal hearing impairment.
British journal of audiology 1999;33(5):271-8.
1999: Lut Van Laer; Wyman T McGuirt; T Yang; Richard J H Smith; Guy Van Camp
Autosomal dominant nonsyndromic hearing impairment.
American journal of medical genetics 1999;89(3):167-74.
1999: R A Sundstrom; L Van Laer; Guy Van Camp; Richard J H Smith
Autosomal recessive nonsyndromic hearing loss.
American journal of medical genetics 1999;89(3):123-9.
1999: Erik Fransen; Margriet Verstreken; Wim I M Verhagen; Floris L Wuyts; Patrick Huygen; P D'Haese; Nahid G Robertson; Cynthia C Morton; Wyman T McGuirt; Richard J H Smith; Frank Declau; Paul H Van De Heyning; Guy Van Camp
High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.
Human molecular genetics 1999;8(8):1425-9.
1999: Guy Van Camp; Henricus P M Kunst; Kris Flothmann; Wyman T McGuirt; Jan Wauters; Henri Marres; Margriet Verstreken; Irina N Bespalova; Margit Burmeister; Paul H Van De Heyning; Richard J H Smith; Patrick J Willems; Cor W R J Cremers; Marci M Lesperance
A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.
Journal of medical genetics 1999;36(7):532-6.
1999: Paul J Coucke; Peter Van Hauwe; P M Kelley; Henricus P M Kunst; Isabelle Schatteman; D Van Velzen; J Meyers; Robbert J H Ensink; Margriet Verstreken; Frank Declau; Henri Marres; K Kastury; S Bhasin; Wyman T McGuirt; Richard J H Smith; Cor W R J Cremers; Paul Van de Heyning; Patrick J Willems; Shelley D Smith; Guy Van Camp
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Human molecular genetics 1999;8(7):1321-8.
1999: Kunihiro Fukushima; Norio Kasai; Y Ueki; Kazunori Nishizaki; Kennichi Sugata; S Hirakawa; A Masuda; Mehmet Gunduz; Y Ninomiya; Y Masuda; M Sato; W T McGuirt; P Coucke; Guy Van Camp; Richard J H Smith
A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.
American journal of human genetics 1999;65(1):141-50.
1999: Paul J Coucke; Peter Van Hauwe; LA Everett; O Demirhan; Y Kabakkaya; N L Dietrich; Richard J H Smith; E Coyle; William Reardon; Richard C Trembath; Patrick J Willems; Eric Green; Guy Van Camp
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
Journal of medical genetics 1999;36(6):475-7.
1999: Henricus P M Kunst; Henri Marres; Patrick Huygen; Guy Van Camp; Frank B M Joosten; Cor W R J Cremers
Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions.
Audiology : official organ of the International Society of Audiology 1999;38(3):165-73.
1999: Peter Van Hauwe; Paul J Coucke; Frank Declau; Henricus P M Kunst; Robbert J H Ensink; Henri Marres; Cor W R J Cremers; Bulantrisna Djelantik; Shelley D Smith; P Kelley; Paul H Van De Heyning; Guy Van Camp
Deafness linked to DFNA2: one locus but how many genes?
Nature genetics 1999;21(3):263.
1999: Katrien Storm; S Willocx; Kris Flothmann; Guy Van Camp
Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.
Human mutation 1999;14(3):263-6.
1999: Kristien Verhoeven; Robbert J H Ensink; V Tiranti; Patrick Huygen; DF Johnson; Isabelle Schatteman; Lut Van Laer; Margriet Verstreken; Paul Van de Heyning; Nathan Fischel-Ghodsian; M Zeviani; Cor W R J Cremers; Patrick J Willems; Guy Van Camp
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
European journal of human genetics : EJHG 1999;7(1):45-51.
1998: Paul J Govaerts; Geert De Ceulaer; Kristin Daemers; Kristien Verhoeven; Guy Van Camp; Isabelle Schatteman; Margriet Verstreken; Patrick J Willems; Thomas Somers; F Erwin Offeciers
A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss.
The American journal of otology 1998;19(6):718-23.
1998: Cor W R J Cremers; Ronald J C Admiraal; Patrick Huygen; CH Bolder; LA Everett; Frank B M Joosten; Eric Green; Guy Van Camp; BJ Otten
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.
International journal of pediatric otorhinolaryngology 1998;45(2):113-23.
1998: Lut Van Laer; Egbert H Huizing; Margriet Verstreken; Diederick van Zuijlen; Jan Wauters; P J Bossuyt; Paul Van de Heyning; Wyman T McGuirt; Richard J H Smith; Patrick J Willems; P Kevin Legan; Guy P Richardson; Guy Van Camp
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Nature genetics 1998;20(2):194-7.
1998: Erik Fransen; Guy Van Camp; Birgitta Winnepenninckx
Dependence of the ligation efficiency of large DNA fragments isolated from agarose gels on the purification method.
Preparative biochemistry & biotechnology 1998;28(3):235-41.
1998: Robbert J H Ensink; Kristien Verhoeven; Henri Marres; Patrick Huygen; G W Padberg; H ter Laak; Guy Van Camp; P J Willems; Cor W R J Cremers
Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472.
Archives of otolaryngology--head & neck surgery 1998;124(8):886-91.
1998: Peter Van Hauwe; LA Everett; P Coucke; Daryl A Scott; M L Kraft; Carrie Ris Stalpers; CH Bolder; BJ Otten; Jan J M de Vijlder; N L Dietrich; Arabandi Ramesh; S C Srisailapathy; A Parving; Cor W R J Cremers; Patrick J Willems; Richard J H Smith; Eric Green; Guy Van Camp
Two frequent missense mutations in Pendred syndrome.
Human molecular genetics 1998;7(7):1099-104.
1998: John H Greinwald; Sigrid Wayne; AH Chen; Daryl A Scott; RI Zbar; ML Kraft; Sai Prasad; Arabandi Ramesh; P Coucke; Srikumari Srisailapathy; Michael Lovett; Guy Van Camp; Richard J H Smith
Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.
American journal of medical genetics 1998;78(2):107-13.
1998: Erik Fransen; Rudi D'Hooge; Guy Van Camp; Marleen Verhoye; Jan Sijbers; Edwin Reyniers; P Soriano; Hiroyuki Kamiguchi; Rob Willemsen; S K E Koekkoek; Chris I De Zeeuw; Peter Paul De Deyn; Annemie Van der Linden; Vance Lemmon; R Frank Kooy; Patrick J Willems
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.
Human molecular genetics 1998;7(6):999-1009.
1998: Erik Fransen; Guy Van Camp; Rudi D'Hooge; Lieve Vits; Patrick J Willems
Genotype-phenotype correlation in L1 associated diseases.
Journal of medical genetics 1998;35(5):399-404.
1998: Kristien Verhoeven; Lut Van Laer; Karin Kirschhofer; P Kevin Legan; David Hughes; Isabelle Schatteman; Margriet Verstreken; Peter Van Hauwe; P Coucke; A Chen; Richard J H Smith; Thomas Somers; F Erwin Offeciers; Paul Van de Heyning; Guy P Richardson; Franz J Wachtler; William J Kimberling; Patrick J Willems; Paul J Govaerts; Guy Van Camp
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
Nature genetics 1998;19(1):60-2.
1998: NJ Lench; MJ Houseman; VE Newton; Guy Van Camp; R Mueller
Connexin-26 mutations in sporadic non-syndromal sensorineural deafness.
Lancet 1998;351(9100):415.
1998: Henricus P M Kunst; Henri Marres; Guy Van Camp; Cor W R J Cremers
Non-syndromic autosomal dominant sensorineural hearing loss: a new field of research.
Clinical otolaryngology and allied sciences 1998;23(1):9-17.
1998: NJ Lench; Alexander F Markham; Robert F Mueller; David P Kelsell; R J Smith; Patrick J Willems; Isabelle Schatteman; H Capon; P J Van De Heyning; Guy Van Camp
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
Journal of medical genetics 1998;35(2):151-2.
1998: Wim Van Hul; Wendy Balemans; Els Van Hul; Frederik G Dikkers; Henk Obee; robert stokroos; P Hildering; Filip Vanhoenacker; Guy Van Camp; Patrick J Willems
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
American journal of human genetics 1998;62(2):391-9.
1998: M S Tomek; MR Brown; S R Mani; Arabandi Ramesh; Srikumari Srisailapathy; P Coucke; RI Zbar; Adam M Bell; Wyman T McGuirt; Kunihiro Fukushima; Patrick J Willems; Guy Van Camp; Richard J H Smith
Localization of a gene for otosclerosis to chromosome 15q25-q26.
Human molecular genetics 1998;7(2):285-90.
1998: Daryl A Scott; ML Kraft; Rivka Carmi; Arabandi Ramesh; Khalil Elbedour; Y Yairi; Srikumari Srisailapathy; S S Rosengren; A F Markham; Robert F Mueller; NJ Lench; Guy Van Camp; Richard J H Smith; Val C Sheffield
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Human mutation 1998;11(5):387-94.
1998: Lieve Vits; D Chitayat; Guy Van Camp; Jeanette J A Holden; Erik Fransen; Patrick J Willems
Evidence for somatic and germline mosaicism in CRASH syndrome.
Human mutation 1998;Suppl 1():S284-7.
1998: AH Chen; Robert F Mueller; Sai D Prasad; John H Greinwald; Jose M Manaligod; A C Muilenburg; Kristien Verhoeven; Guy Van Camp; Richard J H Smith
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Archives of otolaryngology--head & neck surgery 1998;124(1):20-4.
1998: Henricus P M Kunst; Henri Marres; Patrick Huygen; Robbert J H Ensink; Guy Van Camp; Peter Van Hauwe; P Coucke; P Willems; Cor W R J Cremers
Nonsyndromic autosomal dominant progressive sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2.
The Laryngoscope 1998;108(1 Pt 1):74-80.
1997: Lut Van Laer; Guy Van Camp; Diederick van Zuijlen; Eric Green; Margriet Verstreken; Isabelle Schatteman; Paul Van de Heyning; Wendy Balemans; P Coucke; John H Greinwald; Richard J H Smith; Egbert H Huizing; P Willems
Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.
European journal of human genetics : EJHG 1997;5(6):397-405.
1997: MR Brown; M S Tomek; L Van Laer; S Smith; J B Kenyon; Guy Van Camp; Richard J H Smith
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.
American journal of human genetics 1997;61(4):924-7.
1997: K Kastury; Wayne E Taylor; M Gutierrez; L Ramirez; Paul J Coucke; Peter Van Hauwe; Guy Van Camp; Shalender Bhasin
Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.
Genomics 1997;44(3):362-4.
1997: A Chen; Sigrid Wayne; A Bell; Arabandi Ramesh; Srikumari Srisailapathy; Daryl A Scott; Val C Sheffield; P Van Hauwe; RI Zbar; J Ashley; Michael Lovett; Guy Van Camp; Richard J H Smith
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.
American journal of medical genetics 1997;71(4):467-71.
1997: John H Greinwald; Daryl A Scott; JR Marietta; Rivka Carmi; Jose M Manaligod; Arabandi Ramesh; RI Zbar; ML Kraft; Khalil Elbedour; Y Yairi; MM Musy; A B Skvorak; Guy Van Camp; Srikumari Srisailapathy; Michael Lovett; Cynthia C Morton; Val C Sheffield; Richard J H Smith
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21.
Genome research 1997;7(9):879-86.
1997: K Kastury; Wayne E Taylor; Ruoquing Shen; S Arver; M Gutierrez; C E Fisher; Paul J Coucke; Peter Van Hauwe; Guy Van Camp; Shalender Bhasin
Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene.
The Journal of clinical endocrinology and metabolism 1997;82(9):3047-53.
1997: Henri Marres; M van Ewijk; Patrick Huygen; Henricus P M Kunst; Guy Van Camp; P Coucke; P Willems; Cor W R J Cremers
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.
Archives of otolaryngology--head & neck surgery 1997;123(6):573-7.
1997: Lut Van Laer; Guy Van Camp; Eric Green; Egbert H Huizing; Patrick J Willems
Physical mapping of the HOXA1 gene and the hnRPA2B1 gene in a YAC contig from human chromosome 7p14-p15.
Human genetics 1997;99(6):831-3.
1997: Kristien Verhoeven; Guy Van Camp; Paul J Govaerts; Wendy Balemans; Isabelle Schatteman; Margriet Verstreken; Lut Van Laer; Richard J H Smith; MR Brown; Paul H Van De Heyning; Thomas Somers; F Erwin Offeciers; Patrick J Willems
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
American journal of human genetics 1997;60(5):1168-73.
1997: Guy Van Camp; Paul J Coucke; Henricus P M Kunst; Isabelle Schatteman; D Van Velzen; Henri Marres; M van Ewijk; Frank Declau; Peter Van Hauwe; J Meyers; J Kenyon; Shelley D Smith; Richard J H Smith; Bulantrisna Djelantik; Cor W R J Cremers; Paul H Van De Heyning; Patrick J Willems
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
Genomics 1997;41(1):70-4.
1997: Guy Van Camp; Patrick J Willems; Richard J H Smith
Nonsyndromic hearing impairment: unparalleled heterogeneity.
American journal of human genetics 1997;60(4):758-64.
1997: P Coucke; Guy Van Camp; O Demirhan; Y Kabakkaya; Wendy Balemans; Peter Van Hauwe; T Van Agtmael; Richard J H Smith; A Parving; CH Bolder; Cor W R J Cremers; Patrick J Willems
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.
Genomics 1997;40(1):48-54.
1997: Erik Fransen; Guy Van Camp; Lieve Vits; Patrick J Willems
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Human molecular genetics 1997;6(10):1625-32.
1996: Erik Fransen; Lieve Vits; Guy Van Camp; Patrick J Willems
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
American journal of medical genetics 1996;64(1):73-7.
1996: Marsha E O'Neill; J Marietta; Darryl Nishimura; Sigrid Wayne; Guy Van Camp; L Van Laer; C Negrini; Edward R Wilcox; A Chen; Kunihiro Fukushima; L Ni; Val C Sheffield; Richard J H Smith
A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.
Human molecular genetics 1996;5(6):853-6.
1996: Guy Van Camp; Erik Fransen; Lieve Vits; G Raes; Patrick J Willems
A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
Human mutation 1996;8(4):391.
1995: Guy Van Camp; P Coucke; Frank Speleman; Nadine Van Roy; E C Beyer; Ben A Oostra; Patrick J Willems
The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195.
Genomics 1995;30(2):402-3.
1995: Guy Van Camp; P Coucke; Wendy Balemans; D Van Velzen; C van de Bilt; Lut Van Laer; Richard J H Smith; K Fukushima; G W Padberg; R R Frants
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
Human molecular genetics 1995;4(11):2159-63.
1995: Kunihiro Fukushima; Arabandi Ramesh; Srikumari Srisailapathy; L Ni; Sigrid Wayne; Marsha E O'Neill; Guy Van Camp; P Coucke; P Jain; E R Wilcox; S D Smith; J B Kenyon; R I Zbar; R J Smith
An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.
Genome research 1995;5(3):305-8.
1995: Kunihiro Fukushima; Arabandi Ramesh; Srikumari Srisailapathy; L Ni; A Chen; M O'Neill; Guy Van Camp; P Coucke; S D Smith; J B Kenyon
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.
Human molecular genetics 1995;4(9):1643-8.
1995: Guy Van Camp; M N Van Thienen; I Handig; B Van Roy; V S Rao; A Milunsky; Andrew P Read; C T Baldwin; Lindsay A Farrer; M Bonduelle
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.
Journal of medical genetics 1995;32(7):531-6.
1995: Erik Fransen; Vance Lemmon; Guy Van Camp; Lieve Vits; P Coucke; Patrick J Willems
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
European journal of human genetics : EJHG 1995;3(5):273-84.
1994: Erik Fransen; C Schrander-Stumpel; Lieve Vits; P Coucke; Guy Van Camp; Patrick J Willems
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
Human molecular genetics 1994;3(12):2255-6.
1994: P Coucke; Guy Van Camp; B Djoyodiharjo; Shelley D Smith; R R Frants; G W Padberg; J K Darby; Egbert H Huizing; Cor W R J Cremers; W J Kimberling
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.
The New England journal of medicine 1994;331(7):425-31.
1994: Lieve Vits; Guy Van Camp; P Coucke; Erik Fransen; K De Boulle; Edwin Reyniers; B Korn; Annemarie Poustka; G Wilson; C Schrander-Stumpel
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
Nature genetics 1994;7(3):408-13.
1994: P Coucke; Lieve Vits; Guy Van Camp; F Serville; Stanislas LYONNET; S Kenwrick; A Rosenthal; Manfred Wehnert; A Munnich; Patrick J Willems
Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.
Human molecular genetics 1994;3(4):671-3.
1993: Guy Van Camp; Lieve Vits; P Coucke; S Lyonnet; C Schrander-Stumpel; J Darby; J Holden; A Munnich; Patrick J Willems
A duplication in the L1CAM gene associated with X-linked hydrocephalus.
Nature genetics 1993;4(4):421-5.
1993: Wim Van Hul; Guy Van Camp; Lieven Stuyver; Jean-Maurice Delabar; Melvin G McInnis; AC Warren; S E Antonarakis; Christine Van Broeckhoven
A contiguous physical map of the pericentromeric region of chromosome 21q between D21Z1 and D21S13E.
Genomics 1993;15(3):626-30.
1992: Guy Van Camp; Marc Cruts; Hubert Backhovens; A Wehnert; Christine Van Broeckhoven
Unique sequence homology in the pericentromeric regions of the long arms of chromosomes 13 and 21.
Genomics 1992;12(1):158-60.
1991: Guy Van Camp; Hubert Backhovens; Marc Cruts; A Wehnert; Wim Van Hul; P Stinissen; Christine Van Broeckhoven
Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome.
Human genetics 1991;87(6):649-53.
1991: Wim Van Hul; Hubert Backhovens; Guy Van Camp; P Stinissen; Marc Cruts; A Wehnert; Christine Van Broeckhoven
Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques.
Human genetics 1991;87(2):109-11.
1990: Guy Van Camp; Antoon Vandenberghe; Christine Van Broeckhoven
An informative MspI polymorphism detected at the D21S16 locus.
Human genetics 1990;85(1):140.
1990: Guy Van Camp; Wim Van Hul; Hubert Backhovens; P Stinissen; A Wehnert; D Patterson; Antoon Vandenberghe; Christine Van Broeckhoven
Physical mapping of chromosome 21 DNA markers in Alzheimer's disease region using somatic cell hybrids.
Somatic cell and molecular genetics 1990;16(3):241-9.
1990: P Stinissen; Wim Van Hul; Guy Van Camp; Hubert Backhovens; A Wehnert; Antoon Vandenberghe; Christine Van Broeckhoven
The pericentromeric 21 DNA marker pGSM21 (D21S13) contains an expressed HTF island.
Genomics 1990;7(1):119-22.
1990: P Stinissen; B Van Roy; Guy Van Camp; Hubert Backhovens; PM Partoens; A Wehnert; H Verniers; J Dumon; Antoon Vandenberghe; Christine Van Broeckhoven
Study of the origin of nondisjunction in a family with two cases of Down syndrome using cytogenetic and molecular polymorphisms.
American journal of medical genetics. Supplement 1990;7():133-6.
1989: Guy Van Camp; P Stinissen; Wim Van Hul; Hubert Backhovens; A Wehnert; A Vandenberge; Christine Van Broeckhoven
Selection of human chromosome 21-specific DNA probes for genetic analysis in Alzheimer's dementia and Down syndrome.
Human genetics 1989;83(1):58-60.
1989: Guy Van Camp; P Stinissen; Antoon Vandenberghe; Christine Van Broeckhoven
A polymorphic locus [D21S144] is detected by probe pVC12 on chromosome 21.
Nucleic acids research 1989;17(11):4420.