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Guy Van Camp
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55
Smith, Richard
48
Cremers, Cor
39
Van Laer, Lut
35
Fransen, Erik
33
Huygen, Patrick
29
Willems, Patrick
22
Van de Heyning, Paul
21
Coucke, P
18
Declau, Frank
17
Van De Heyning, Paul
16
Verstreken, Margriet
15
Cryns, Kim
14
Kunst, Henricus
14
Van Hauwe, Peter
14
Schatteman, Isabelle
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All Publications
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2009: Pawelczyk Malgorzata; Van Laer Lut; Fransen Erik; Rajkowska Elzbieta; Konings Annelies; Carlsson Per-Inge; Borg Erik; Van Camp Guy; Sliwinska-Kowalska Mariola
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.
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2009: Hilgert Nele; Smith Richard J H; Van Camp Guy
Function and expression pattern of nonsyndromic deafness genes.
Current molecular medicine 2009;9(5):546-64.
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2009: Alasti F; Van Camp G
Genetics of microtia and associated syndromes.
Journal of medical genetics 2009;46(6):361-9.
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2009: Demeester Kelly; van Wieringen Astrid; Hendrickx Jan-jaap; Topsakal Vedat; Fransen Erik; van Laer Lut; Van Camp Guy; Van de Heyning Paul
Audiometric shape and presbycusis.
International journal of audiology 2009;48(4):222-32.
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2009: Hilgert N; Kahrizi K; Dieltjens N; Bazazzadegan N; Najmabadi H; Smith R J H; Van Camp G
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.
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2009: Schrauwen Isabelle; Ealy Megan; Huentelman Matthew J; Thys Melissa; Homer Nils; Vanderstraeten Kathleen; Fransen Erik; Corneveaux Jason J; Craig David W; Claustres Mireille; Cremers Cor W R J; Dhooge Ingeborg; Van de Heyning Paul; Vincent Robert; Offeciers Erwin; Smith Richard J H; Van Camp Guy
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
American journal of human genetics 2009;84(3):328-38.
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2009: Thys M; Schrauwen I; Vanderstraeten K; Dieltjens N; Fransen E; Ealy M; Cremers C W R J; van de Heyning P; Vincent R; Offeciers E; Smith R H; van Camp G
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.
Annals of human genetics 2009;73(2):171-5.
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2009: Konings A; Van Laer L; Wiktorek-Smagur A; Rajkowska E; Pawelczyk M; Carlsson P I; Bondeson M L; Dudarewicz A; Vandevelde A; Fransen E; Huyghe J; Borg E; Sliwinska-Kowalska M; Van Camp G
Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations.
Annals of human genetics 2009;73(2):215-24.
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2009: Hilgert Nele; Monahan Kelly; Kurima Kiyoto; Li Cindy; Friedman Rick A; Griffith Andrew J; Van Camp Guy
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.
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2009: Vrijens Karen; Van Camp Guy; Van Laer Lut
Characterization of the murine Dfna5 promoter and regulatory regions.
Gene 2009;432(1-2):82-90.
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2009: Konings Annelies; Van Laer Lut; Michel Sophie; Pawelczyk Malgorzata; Carlsson Per-Inge; Bondeson Marie-Louise; Rajkowska Elzbieta; Dudarewicz Adam; Vandevelde Ann; Fransen Erik; Huyghe Jeroen; Borg Erik; Sliwinska-Kowalska Mariola; Van Camp Guy
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.
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2009: Hilgert Nele; Smith Richard J H; Van Camp Guy
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Mutation research 2009;681(2-3):189-96.
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2009: Hildebrand Michael S; Tack Dylan; Deluca Adam; Hur In Ae; Van Rybroek Jana M; McMordie Sarah J; Muilenburg Ann; Hoskinson David P; Van Camp Guy; Pensak Myles L; Storper Ian S; Huygen Patrick L M; Casavant Thomas L; Smith Richard J H
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
American journal of medical genetics. Part A 2009;149A(2):280-5.
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2009: Zadro Cristina; Alemanno Maria Stella; Bellacchio Emanuele; Ficarella Romina; Donaudy Francesca; Melchionda Salvatore; Zelante Leopoldo; Rabionet Raquel; Hilgert Nele; Estivill Xavier; Van Camp Guy; Gasparini Paolo; Carella Massimo
Are MYO1C and MYO1F associated with hearing loss?
Biochimica et biophysica acta 2009;1792(1):27-32.
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2008: Konings Annelies; Van Camp Guy; Goethals Alain; Van Eyken Els; Vandevelde Ann; Ben Azza Jamila; Peeters Nils; Wuyts Wim; Smeets Hubert; Van Laer Lut
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.
Mitochondrion 2008;8(5-6):377-82.
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2008: Kokotas Haris; Van Laer Lut; Grigoriadou Maria; Iliadou Vassiliki; Economides John; Pomoni Stella; Pampanos Andreas; Eleftheriades Nikos; Ferekidou Elisabeth; Korres Stavros; Giannoulia-Karantana Aglaia; Van Camp Guy; Petersen Michael B
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.
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2008: Vrijens Karen; Van Laer Lut; Van Camp Guy
Human hereditary hearing impairment: mouse models can help to solve the puzzle.
Human genetics 2008;124(4):325-48.
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2008: Hilgert N; Alasti F; Dieltjens N; Pawlik B; Wollnik B; Uyguner O; Delmaghani S; Weil D; Petit C; Danis E; Yang T; Pandelia E; Petersen M B; Goossens D; Favero J D; Sanati M H; Smith R J H; Van Camp G
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.
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2008: Hilgert Nele; Topsakal Vedat; van Dinther Joost; Offeciers Erwin; Van de Heyning Paul; Van Camp Guy
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.
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2008: Alasti Fatemeh; Sadeghi Abdorrahim; Sanati Mohammad Hossein; Farhadi Mohammad; Stollar Elliot; Somers Thomas; Van Camp Guy
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.
American journal of human genetics 2008;82(4):982-91.
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2008: Bel Hadj Ali Insaf; Thys Melissa; Beltaief Najeh; Schrauwen Isabelle; Hilgert Nele; Vanderstraeten Kathleen; Dieltjens Nele; Mnif Emna; Hachicha Slah; Besbes Ghazi; Ben Arab Saïda; Van Camp Guy
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.
Human genetics 2008;123(3):267-72.
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2008: Schrauwen Isabelle; Thys Melissa; Vanderstraeten Kathleen; Fransen Erik; Dieltjens Nele; Huyghe Jeroen R; Ealy Megan; Claustres Mireille; Cremers Cor R W J; Dhooge Ingeborg; Declau Frank; Van de Heyning Paul; Vincent Robert; Somers Thomas; Offeciers Erwin; Smith Richard J H; Van Camp Guy
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.
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2008: Alasti Fatemeh; Sanati Mohammad Hossein; Behrouzifard Amir Hossein; Sadeghi Abdorrahim; de Brouwer Arjan P M; Kremer Hannie; Smith Richard J H; Van Camp Guy
A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
International journal of pediatric otorhinolaryngology 2008;72(2):249-55.
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2007: Thys Melissa; Schrauwen Isabelle; Vanderstraeten Kathleen; Janssens Katrien; Dieltjens Nele; Van Den Bogaert Kris; Fransen Erik; Chen Wenjie; Ealy Megan; Claustres Mireille; Cremers Cor R W J; Dhooge Ingeborg; Declau Frank; Claes Jos; Van de Heyning Paul; Vincent Robert; Somers Thomas; Offeciers Erwin; Smith Richard J H; Van Camp Guy
The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.
Human molecular genetics 2007;16(17):2021-30.
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2007: Konings Annelies; Van Laer Lut; Pawelczyk Malgorzata; Carlsson Per-Inge; Bondeson Marie-Louise; Rajkowska Elzbieta; Dudarewicz Adam; Vandevelde Ann; Fransen Erik; Huyghe Jeroen; Borg Erik; Sliwinska-Kowalska Mariola; Van Camp Guy
Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations.
Human molecular genetics 2007;16(15):1872-83.
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2007: Pauw Robert Jan; Huygen Patrick L M; Thys Melissa; Van Camp Guy; Joosten Frank B M; Cremers Cor W R J
Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7.
American journal of medical genetics. Part A 2007;143A(14):1613-22.
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2007: Meyer Nicole C; Alasti Fatemeh; Nishimura Carla J; Imanirad Parisa; Kahrizi Kimia; Riazalhosseini Yasser; Malekpour Mahdi; Kochakian Nafiseh; Jamali Payman; Van Camp Guy; Smith Richard J H; Najmabadi Hossein
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.
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2007: Thys Melissa; Van Den Bogaert Kris; Iliadou Vassiliki; Vanderstraeten Kathleen; Dieltjens Nele; Schrauwen Isabelle; Chen Wenjie; Eleftheriades Nikolaos; Grigoriadou Maria; Pauw Robert Jan; Cremers Cor R W J; Smith Richard J H; Petersen Michael B; Van Camp Guy
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
European journal of human genetics : EJHG 2007;15(3):362-8.
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2007: Demeester K; van Wieringen A; Hendrickx J J; Topsakal V; Fransen E; Van Laer L; De Ridder D; Van Camp G; Van de Heyning P
Prevalence of tinnitus and audiometric shape.
B-ENT 2007;3 Suppl 7():37-49.
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2007: Van Eyken E; Van Camp G; Hendrickx J J; Demeester K; Vandevelde A; Azza J Ben; Van de Heyning P; Van Laer L
A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation.
Genetic testing 2007;11(3):231-4.
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2007: Van Eyken E; Van Camp G; Van Laer L
The complexity of age-related hearing impairment: contributing environmental and genetic factors.
Audiology & neuro-otology 2007;12(6):345-58.
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2007: Van Laer Lut; Meyer Nicole C; Malekpour Mahdi; Riazalhosseini Yasser; Moghannibashi Mahdi; Kahrizi Kimia; Vandevelde Ann; Alasti Fatemeh; Najmabadi Hossein; Van Camp Guy; Smith Richard J H
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
Journal of human genetics 2007;52(6):549-52.
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2007: Declau Frank; Van den Bogaert Kris; Van De Heyning Paul; Offeciers Erwin; Govaerts Paul; Van Camp Guy
Phenotype-genotype correlations in otosclerosis: clinical features of OTSC2.
Advances in oto-rhino-laryngology 2007;65():114-8.
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2006: Van Eyken E; Van Laer L; Fransen E; Topsakal V; Lemkens N; Laureys W; Nelissen N; Vandevelde A; Wienker T; Van De Heyning P; Van Camp G
KCNQ4: a gene for age-related hearing impairment?
Human mutation 2006;27(10):1007-16.
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2006: Vrijens Karen; Thys Sofie; De Jeu Marcel T; Postnov Andrei A; Pfister Markus; Cox Luk; Zwijsen An; Van Hoof Viviane; Mueller Marcus; De Clerck Nora M; De Zeeuw Chris I; Van Camp Guy; Van Laer Lut
Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome.
Neurobiology of disease 2006;24(1):28-40.
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2006: Van Camp Guy; Snoeckx Rikkert L; Hilgert Nele; van den Ende Jenneke; Fukuoka Hisakumi; Wagatsuma Michio; Suzuki Hiroaki; Smets R M Erica; Vanhoenacker Filip; Declau Frank; Van de Heyning Paul; Usami Shin-ichi
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.
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2006: Topsakal Vedat; Fransen Erik; Schmerber Sébastien; Declau Frank; Yung Matthew; Gordts Frans; Van Camp Guy; Van de Heyning Paul
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.
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2006: Van Laer Lut; Carlsson Per-Inge; Ottschytsch Natacha; Bondeson Marie-Louise; Konings Annelies; Vandevelde Ann; Dieltjens Nele; Fransen Erik; Snyders Dirk; Borg Erik; Raes Adam; Van Camp Guy
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.
Human mutation 2006;27(8):786-95.
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2006: Delmaghani Sedigheh; del Castillo Francisco J; Michel Vincent; Leibovici Michel; Aghaie Asadollah; Ron Uri; Van Laer Lut; Ben-Tal Nir; Van Camp Guy; Weil Dominique; Langa Francina; Lathrop Mark; Avan Paul; Petit Christine
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.
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2006: Pauw Robert J; De Leenheer Els M R; Van Den Bogaert Kris; Huygen Patrick L M; Van Camp Guy; Joosten Frank B M; Cremers Cor W R J
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.
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2006: Iliadou Vassiliki; Van Den Bogaert Kris; Eleftheriades Nikolaos; Aperis George; Vanderstraeten Kathleen; Fransen Erik; Thys Melissa; Grigoriadou Maria; Pampanos Andreas; Economides John; Iliades Theophilos; Van Camp Guy; Petersen Michael B
Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.
International journal of pediatric otorhinolaryngology 2006;70(4):631-7.
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2005: Chen W; Kahrizi K; Meyer N C; Riazalhosseini Y; Van Camp G; Najmabadi H; Smith R J H
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
Journal of medical genetics 2005;42(10):e61.
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2005: Van Laer Lut; Pfister Markus; Thys Sofie; Vrijens Karen; Mueller Marcus; Umans Lieve; Serneels Lutgarde; Van Nassauw Luc; Kooy Frank; Smith Richard J H; Timmermans Jean-Pierre; Van Leuven Fred; Van Camp Guy
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells.
Neurobiology of disease 2005;19(3):386-99.
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2005: de Brouwer Arjan P M; Kunst Hendrikus P M; Krebsova Alice; van Asseldonk Karin; Reis André; Snoeckx Rik L; Van Camp Guy; Cremers Cor W R J; Cremers Frans P M; Kremer Hannie
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.
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2005: Legan P Kevin; Lukashkina Victoria A; Goodyear Richard J; Lukashkin Andrei N; Verhoeven Kristien; Van Camp Guy; Russell Ian J; Richardson Guy P
A deafness mutation isolates a second role for the tectorial membrane in hearing.
Nature neuroscience 2005;8(8):1035-42.
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2005: del Castillo F J; Rodríguez-Ballesteros M; Alvarez A; Hutchin T; Leonardi E; de Oliveira C A; Azaiez H; Brownstein Z; Avenarius M R; Marlin S; Pandya A; Shahin H; Siemering K R; Weil D; Wuyts W; Aguirre L A; Martín Y; Moreno-Pelayo M A; Villamar M; Avraham K B; Dahl H-H M; Kanaan M; Nance W E; Petit C; Smith R J H; Van Camp G; Sartorato E L; Murgia A; Moreno F; del Castillo I
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.
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2005: Snoeckx Rikkert L; Hassan Dalia M; Kamal Nadia M; Van Den Bogaert Kris; Van Camp Guy
Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
Human mutation 2005;26(1):60-1.
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2005: Snoeckx Rikkert L; Djelantik Bulantrisna; Van Laer Lut; Van de Heyning Paul; Van Camp Guy
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.
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2005: Carlsson Per-Inge; Van Laer Lut; Borg Erik; Bondeson Marie-Louise; Thys Melissa; Fransen Erik; Van Camp Guy
The influence of genetic variation in oxidative stress genes on human noise susceptibility.
Hearing research 2005;202(1-2):87-96.
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2005: Topsakal V; Van Camp G; Van de Heyning P
Genetic testing for hearing impairment.
B-ENT 2005;1(3):125-35.
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2004: Azaiez Hela; Chamberlin G Parker; Fischer Stephanie M; Welp Chelsea L; Prasad Sai D; Taggart R Thomas; del Castillo Ignacio; Van Camp Guy; Smith Richard J H
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Human mutation 2004;24(4):305-11.
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2004: Van Den Bogaert K; De Leenheer E M R; Chen W; Lee Y; Nürnberg P; Pennings R J E; Vanderstraeten K; Thys M; Cremers C W R J; Smith R J H; Van Camp G
A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24.
Journal of medical genetics 2004;41(6):450-3.
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2004: Van Laer L; Vrijens K; Thys S; Van Tendeloo V F I; Smith R J H; Van Bockstaele D R; Timmermans J-P; Van Camp G
DFNA5: hearing impairment exon instead of hearing impairment gene?
Journal of medical genetics 2004;41(6):401-6.
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2004: Fransen Erik; Van Laer Lut; Lemkens Nele; Caethoven Goele; Flothmann Kris; Govaerts Paul; Van de Heyning Paul; Van Camp Guy
A novel Z-score-based method to analyze candidate genes for age-related hearing impairment.
Ear and hearing 2004;25(2):133-41.
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2004: Donaudy Francesca; Snoeckx Rik; Pfister Markus; Zenner Hans-Peter; Blin Nikolaus; Di Stazio Mariateresa; Ferrara Antonella; Lanzara Carmen; Ficarella Romina; Declau Frank; Pusch Carsten M; Nürnberg Peter; Melchionda Salvatore; Zelante Leopoldo; Ballana Ester; Estivill Xavier; Van Camp Guy; Gasparini Paolo; Savoia Anna
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.
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2004: Cryns K; Orzan E; Murgia A; Huygen P L M; Moreno F; del Castillo I; Chamberlin G Parker; Azaiez H; Prasad S; Cucci R A; Leonardi E; Snoeckx R L; Govaerts P J; Van de Heyning P H; Van de Heyning C M; Smith R J H; Van Camp G
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
Journal of medical genetics 2004;41(3):147-54.
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2004: Snoeckx R L; Kremer H; Ensink R J H; Flothmann K; de Brouwer A; Smith R J H; Cremers C W R J; Van Camp G
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.
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2004: Cryns Kim; van Alphen Arjan M; van Spaendonck Michiel P; van de Heyning Paul H; Timmermans Jean-Pierre; de Zeeuw Chris I; van Camp Guy
Circling behavior in the Ecl mouse is caused by lateral semicircular canal defects.
The Journal of comparative neurology 2004;468(4):587-95.
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2004: Prasad Sai; Kölln Karen A; Cucci Robert A; Trembath Richard C; Van Camp Guy; Smith Richard J H
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.
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2004: Pennings Ronald J E; Huygen Patrick L M; van den Ouweland Jody M W; Cryns Kim; Dikkeschei Lambert D; Van Camp Guy; Cremers Cor W R J
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.
Audiology & neuro-otology 2004;9(1):51-62.
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2004: Cryns Kim; Van Camp Guy
Deafness genes and their diagnostic applications.
Audiology & neuro-otology 2004;9(1):2-22.
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2003: Del Castillo Ignacio; Moreno-Pelayo Miguel A; Del Castillo Francisco J; Brownstein Zippora; Marlin Sandrine; Adina Quint; Cockburn David J; Pandya Arti; Siemering Kirby R; Chamberlin G Parker; Ballana Ester; Wuyts Wim; Maciel-Guerra Andréa Trevas; Alvarez Araceli; Villamar Manuela; Shohat Mordechai; Abeliovich Dvorah; Dahl Hans-Henrik M; Estivill Xavier; Gasparini Paolo; Hutchin Tim; Nance Walter E; Sartorato Edi L; Smith Richard J H; Van Camp Guy; Avraham Karen B; Petit Christine; Moreno Felipe
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.
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2003: Pennings R J; Cryns K; Huygen P L; van Camp G; Cremers C W
[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)]
Nederlands tijdschrift voor geneeskunde 2003;147(44):2170-2.
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2003: Cryns Kim; Sivakumaran Theru A; Van den Ouweland Jody M W; Pennings Ronald J E; Cremers Cor W R J; Flothmann Kris; Young Terry-Lynn; Smith Richard J H; Lesperance Marci M; Van Camp Guy
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Human mutation 2003;22(4):275-87.
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2003: Lemaire Francois X; Feenstra Louw; Huygen Patrick L M; Fransen Erik; Devriendt Koen; Van Camp Guy; Vantrappen Greet; Cremers Cor W R J; Wackym Phillip A; Koss John C
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.
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2003: Chang Eugene H; Van Camp Guy; Smith Richard J H
The role of connexins in human disease.
Ear and hearing 2003;24(4):314-23.
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2003: Van Laer Lut; Cryns Kim; Smith Richard J H; Van Camp Guy
Nonsyndromic hearing loss.
Ear and hearing 2003;24(4):275-88.
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2003: van ven Ouweland Johannes M W; Cryns Kim; Pennings Ronald J E; Walraven Inge; Janssen George M C; Maassen J Antonie; Veldhuijzen Bernard F E; Arntzenius Alexander B; Lindhout Dick; Cremers Cor W R J; Van Camp Guy; Dikkeschei Lambert D
Molecular characterization of WFS1 in patients with Wolfram syndrome.
The Journal of molecular diagnostics : JMD 2003;5(2):88-95.
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2003: Pennings Ronald J E; Bom Steven J H; Cryns Kim; Flothmann Kris; Huygen Patrick L M; Kremer Hannie; Van Camp Guy; Cremers Cor W R J
Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).
Archives of otolaryngology--head & neck surgery 2003;129(4):421-6.
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2003: Fransen Erik; Lemkens Nele; Van Laer Lut; Van Camp Guy
Age-related hearing impairment (ARHI): environmental risk factors and genetic prospects.
Experimental gerontology 2003;38(4):353-9.
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2003: Cryns Kim; Thys Sofie; Van Laer Lut; Oka Yoshitomo; Pfister Markus; Van Nassauw Luc; Smith Richard J H; Timmermans Jean-Pierre; Van Camp Guy
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.
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2002: Van Laer Lut; DeStefano Anita L; Myers Richard H; Flothmann Kris; Thys Sofie; Fransen Erik; Gates George A; Van Camp Guy; Baldwin Clinton T
Is DFNA5 a susceptibility gene for age-related hearing impairment?
European journal of human genetics : EJHG 2002;10(12):883-6.
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2002: Bom Steven J H; Van Camp Guy; Cryns Kim; Admiraal Ronald J C; Huygen Patrick L M; Cremers Cor W R J
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.
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2002: De Leenheer Els M R; van Zuijlen Diederick A; Van Laer Lut; Van Camp Guy; Huygen Patrick L M; Huizing Egbert H; Cremers Cor W R J
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.
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2002: Chen W; Campbell C A; Green G E; Van Den Bogaert K; Komodikis C; Manolidis L S; Aconomou E; Kyamides Y; Christodoulou K; Faghel C; Giguére C M; Alford R L; Manolidis S; Van Camp G; Smith R J H
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.
Journal of medical genetics 2002;39(7):473-7.
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2002: Van Camp Guy; Coucke Paul J; Akita Jiro; Fransen Erik; Abe Satoko; De Leenheer Els M R; Huygen Patrick L M; Cremers Cor W R J; Usami Shin-Ichi
A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
Human mutation 2002;20(1):15-9.
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2002: Cryns Kim; Pfister Markus; Pennings Ronald J E; Bom Steven J H; Flothmann Kris; Caethoven Goele; Kremer Hannie; Schatteman Isabelle; Köln Karen A; Tóth Tímea; Kupka Susan; Blin Nikolaus; Nürnberg Peter; Thiele Holger; van de Heyning Paul H; Reardon William; Stephens Dafydd; Cremers Cor W R J; Smith Richard J H; Van Camp Guy
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Human genetics 2002;110(5):389-94.
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2002: Van Den Bogaert K; Govaerts P J; De Leenheer E M R; Schatteman I; Verstreken M; Chen W; Declau F; Cremers C W R J; Van De Heyning P H; Offeciers F E; Somers T; Smith R J H; Van Camp G
Otosclerosis: a genetically heterogeneous disease involving at least three different genes.
Bone 2002;30(4):624-30.
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2002: Cryns Kim; Van Spaendonck Michiel P; Flothmann Kris; van Alphen Arjan M; Van De Heyning Paul H; Timmermans Jean-Pierre; De Zeeuw Chris I; Van Camp Guy
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.
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2002: Maugeri Alessandra; Flothmann Kris; Hemmrich Nadine; Ingvast Sofie; Jorge Paula; Paloma Eva; Patel Reshma; Rozet Jean-Michel; Tammur Jaana; Testa Francesco; Balcells Susana; Bird Alan C; Brunner Han G; Hoyng Carel B; Metspalu Andres; Simonelli Francesca; Allikmets Rando; Bhattacharya Shomi S; D'Urso Michele; Gonzàlez-Duarte Roser; Kaplan Josseline; te Meerman Gerard J; Santos Rosário; Schwartz Marianne; Van Camp Guy; Wadelius Claes; Weber Bernhard H F; Cremers Frans P M
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.
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2002: De Leenheer Els M R; Huygen Patrick L M; Coucke Paul J; Admiraal Ronald J C; van Camp G; Cremers Cor W
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.
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2002: Lemkens N; Vermeire K; Brokx J P L; Fransen E; Van Camp G; Van De Heyning P H
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.
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2002: Van Camp G
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.
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2002: Stinckens C; Huygen P L M; Van Camp G; Cremers C W R J
Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss.
Advances in oto-rhino-laryngology 2002;61():131-41.
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2002: Huygen Patrick L M; Bom Steven J H; Van Camp Guy; Cremers Cor W R J
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.
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2002: De Leenheer Els M R; Huygen Patrick L M; Wayne Sigrid; Verstreken Margriet; Declau Frank; Van Camp Guy; Van de Heyning Paul H; Smith Richard J H; Cremers Cor W R J
DFNA10/EYA4--the clinical picture.
Advances in oto-rhino-laryngology 2002;61():73-8.
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2002: Govaerts Paul J; De Ceulaer Geert; Daemers Kristin; Verhoeven Kristien; Van Camp Guy; Schatteman Isabelle; Verstreken Margriet; Willems Patrick J; Somers Thomas; Offeciers F Erwin
Clinical presentation of DFNA8-DFNA12.
Advances in oto-rhino-laryngology 2002;61():60-5.
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2002: De Leenheer Els M R; van Zuijlen Diederick A; Van Laer Lut; Van Camp Guy; Huygen Patrick L M; Huizing Egbert H; Cremers Cor W R J
Clinical features of DFNA5.
Advances in oto-rhino-laryngology 2002;61():53-9.
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2002: De Leenheer Els M R; Ensink Robbert J H; Kunst Henricus P M; Marres Henri A M; Talebizadeh Zohreh; Declau Frank; Smith Shelley D; Usami Shin-ichi; Van de Heyning Paul H; Van Camp Guy; Huygen Patrick L M; Cremers Cor W R J
DFNA2/KCNQ4 and its manifestations.
Advances in oto-rhino-laryngology 2002;61():41-6.
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2001: Verhagen W I; Bom S J; Fransen E; Van Camp G; Huygen P L; Theunissen E J; Cremers C W
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.
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2001: Stinckens C; Huygen P L; Joosten F B; Van Camp G; Otten B; Cremers C W
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.
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2001: Verstreken M; Declau F; Wuyts F L; D'Haese P; Van Camp G; Fransen E; Van den Hauwe L; Buyle S; Smets R E; Feenstra L; Van der Stappen A; Van de Heyning P H
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.
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2001: Bespalova I N; Van Camp G; Bom S J; Brown D J; Cryns K; DeWan A T; Erson A E; Flothmann K; Kunst H P; Kurnool P; Sivakumaran T A; Cremers C W; Leal S M; Burmeister M; Lesperance M M
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.
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2001: Bom S J; De Leenheer E M; Lemaire F X; Kemperman M H; Verhagen W I; Marres H A; Kunst H P; Ensink R J; Bosman A J; Van Camp G; Cremers F P; Huygen P L; Cremers C W
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.
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2001: Ensink R J; Huygen P L; Snoeckx R L; Caethoven G; Van Camp G; Cremers C W
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.
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2001: Chen A H; Stephan D A; Hasson T; Fukushima K; Nelissen C M; Chen A F; Jun A I; Ramesh A; Van Camp G; Smith R J
MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
Archives of otolaryngology--head & neck surgery 2001;127(8):921-5.
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2001: Van Laer L; Coucke P; Mueller R F; Caethoven G; Flothmann K; Prasad S D; Chamberlin G P; Houseman M; Taylor G R; Van de Heyning C M; Fransen E; Rowland J; Cucci R A; Smith R J; Van Camp G
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
Journal of medical genetics 2001;38(8):515-8.
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2001: Hutchin T P; Navarro-Coy N C; Van Camp G; Tiranti V; Zeviani M; Schuelke M; Jaksch M; Newton V; Mueller R F
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.
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2001: Van Den Bogaert K; Govaerts P J; Schatteman I; Brown M R; Caethoven G; Offeciers F E; Somers T; Declau F; Coucke P; Van de Heyning P; Smith R J; Van Camp G
A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.
American journal of human genetics 2001;68(2):495-500.
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2001: Wayne S; Robertson N G; DeClau F; Chen N; Verhoeven K; Prasad S; Tranebjärg L; Morton C C; Ryan A F; Van Camp G; Smith R J
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
Human molecular genetics 2001;10(3):195-200.
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2001: Fransen E; Verstreken M; Bom S J; Lemaire F; Kemperman M H; De Kok Y J; Wuyts F L; Verhagen W I; Huygen P L; McGuirt W T; Smith R J; Van Maldergem L V; Declau F; Cremers C W; Van De Heyning P H; Cremers F P; Van Camp G
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.
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2001: Van Laer L; Van Camp G
Genes in the ear: what have we learned over the last years?
Scandinavian audiology. Supplementum 2001;(53):44-53.
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2000: Verstreken M; Declau F; Schatteman I; Van Velzen D; Verhoeven K; Van Camp G; Willems P J; Kuhweide E W; Verhaert E; D'Haese P; Wuyts F L; Van de Heyning P H
Audiometric analysis of a Belgian family linked to the DFNA10 locus.
The American journal of otology 2000;21(5):675-81.
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2000: Verhoeven K; Fagerheim T; Prasad S; Wayne S; De Clau F; Balemans W; Verstreken M; Schatteman I; Solem B; Van de Heyning P; Tranebjärg L; Smith R J; Van Camp G
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.
Human genetics 2000;107(1):7-11.
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2000: Van Hauwe P; Coucke P J; Ensink R J; Huygen P; Cremers C W; Van Camp G
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.
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2000: Verhagen W I; Bom S J; Huygen P L; Fransen E; Van Camp G; Cremers C W
Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9).
Archives of neurology 2000;57(7):1045-7.
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2000: Van Spaendonck M P; Cryns K; Van De Heyning P H; Scheuermann D W; Van Camp G; Timmermans J P
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.
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2000: Kunst H; Huybrechts C; Marres H; Huygen P; Van Camp G; Cremers C
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.
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2000: Cucci R A; Prasad S; Kelley P M; Green G E; Storm K; Willocx S; Cohn E S; Van Camp G; Smith R J
The M34T allele variant of connexin 26.
Genetic testing 2000;4(4):335-44.
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2000: McGuirt W T; Lesperance M M; Wilcox E R; Chen A H; Van Camp G; Smith R J
Characterization of autosomal dominant non-syndromic hearing loss loci: DFNA 4, 6, 10 and 13.
Advances in oto-rhino-laryngology 2000;56():84-96.
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2000: Van Camp G; Coucke P J; Van Hauwe P; Van Laer L; Verhoeven K; Wuyts F; Smith R J
DFNA 2, 5, 8, 12.
Advances in oto-rhino-laryngology 2000;56():68-77.
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2000: Ensink R J; Huygen P L; Van Hauwe P; Coucke P; Cremers C W; Van Camp G
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.
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1999: McGuirt W T; Prasad S D; Griffith A J; Kunst H P; Green G E; Shpargel K B; Runge C; Huybrechts C; Mueller R F; Lynch E; King M C; Brunner H G; Cremers C W; Takanosu M; Li S W; Arita M; Mayne R; Prockop D J; Van Camp G; Smith R J
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
Nature genetics 1999;23(4):413-9.
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1999: Fransen E; Van Camp G
The COCH gene: a frequent cause of hearing impairment and vestibular dysfunction?
British journal of audiology 1999;33(5):297-302.
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1999: Van Hauwe P; Coucke P; Van Camp G
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.
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1999: Smith R J; Van Camp G
Cloning genes for non-syndromal hearing impairment.
British journal of audiology 1999;33(5):271-8.
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1999: Mueller R F; Nehammer A; Middleton A; Houseman M; Taylor G R; Bitner-Glindzciz M; Van Camp G; Parker M; Young I D; Davis A; Newton V E; Lench N J
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.
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1999: Smith R J; Van Camp G
Non-syndromic hearing impairment: gene linkage and cloning.
International journal of pediatric otorhinolaryngology 1999;49 Suppl 1():S159-63.
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1999: Van Laer L; McGuirt W T; Yang T; Smith R J; Van Camp G
Autosomal dominant nonsyndromic hearing impairment.
American journal of medical genetics 1999;89(3):167-74.
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1999: Sundstrom R A; Van Laer L; Van Camp G; Smith R J
Autosomal recessive nonsyndromic hearing loss.
American journal of medical genetics 1999;89(3):123-9.
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1999: Fransen E; Verstreken M; Verhagen W I; Wuyts F L; Huygen P L; D'Haese P; Robertson N G; Morton C C; McGuirt W T; Smith R J; Declau F; Van de Heyning P H; Van Camp G
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.
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1999: Van Camp G; Kunst H; Flothmann K; McGuirt W; Wauters J; Marres H; Verstreken M; Bespalova I N; Burmeister M; Van de Heyning P H; Smith R J; Willems P J; Cremers C W; Lesperance M M
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.
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1999: Coucke P J; Van Hauwe P; Kelley P M; Kunst H; Schatteman I; Van Velzen D; Meyers J; Ensink R J; Verstreken M; Declau F; Marres H; Kastury K; Bhasin S; McGuirt W T; Smith R J; Cremers C W; Van de Heyning P; Willems P J; Smith S D; Van Camp G
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Human molecular genetics 1999;8(7):1321-8.
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1999: Fukushima K; Kasai N; Ueki Y; Nishizaki K; Sugata K; Hirakawa S; Masuda A; Gunduz M; Ninomiya Y; Masuda Y; Sato M; McGuirt W T; Coucke P; Van Camp G; Smith R J
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.
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1999: Coucke P J; Van Hauwe P; Everett L A; Demirhan O; Kabakkaya Y; Dietrich N L; Smith R J; Coyle E; Reardon W; Trembath R; Willems P J; Green E D; Van Camp G
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.
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1999: Kunst H; Marres H; Huygen P; Van Camp G; Joosten F; Cremers C
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.
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1999: Van Hauwe P; Coucke P J; Declau F; Kunst H; Ensink R J; Marres H A; Cremers C W; Djelantik B; Smith S D; Kelley P; Van de Heyning P H; Van Camp G
Deafness linked to DFNA2: one locus but how many genes?
Nature genetics 1999;21(3):263.
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1999: Verhoeven K; Ensink R J; Tiranti V; Huygen P L; Johnson D F; Schatteman I; Van Laer L; Verstreken M; Van de Heyning P; Fischel-Ghodsian N; Zeviani M; Cremers C W; Willems P J; Van Camp G
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.
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1999: Storm K; Willocx S; Flothmann K; Van Camp G
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.
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1998: Govaerts P J; De Ceulaer G; Daemers K; Verhoeven K; Van Camp G; Schatteman I; Verstreken M; Willems P J; Somers T; Offeciers F E
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.
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1998: Cremers C W; Admiraal R J; Huygen P L; Bolder C; Everett L A; Joosten F B; Green E D; van Camp G; Otten B J
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.
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1998: Van Laer L; Huizing E H; Verstreken M; van Zuijlen D; Wauters J G; Bossuyt P J; Van de Heyning P; McGuirt W T; Smith R J; Willems P J; Legan P K; Richardson G P; Van Camp G
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Nature genetics 1998;20(2):194-7.
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1998: Fransen E; Van Camp G; Winnepenninckx B
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.
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1998: Ensink R J; Verhoeven K; Marres H A; Huygen P L; Padberg G W; ter Laak H; van Camp G; Willems P J; Cremers C W
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.
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1998: Van Hauwe P; Everett L A; Coucke P; Scott D A; Kraft M L; Ris-Stalpers C; Bolder C; Otten B; de Vijlder J J; Dietrich N L; Ramesh A; Srisailapathy S C; Parving A; Cremers C W; Willems P J; Smith R J; Green E D; Van Camp G
Two frequent missense mutations in Pendred syndrome.
Human molecular genetics 1998;7(7):1099-104.
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1998: Greinwald J H; Wayne S; Chen A H; Scott D A; Zbar R I; Kraft M L; Prasad S; Ramesh A; Coucke P; Srisailapathy C R; Lovett M; Van Camp G; Smith R J
Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.
American journal of medical genetics 1998;78(2):107-13.
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1998: Fransen E; D'Hooge R; Van Camp G; Verhoye M; Sijbers J; Reyniers E; Soriano P; Kamiguchi H; Willemsen R; Koekkoek S K; De Zeeuw C I; De Deyn P P; Van der Linden A; Lemmon V; Kooy R F; Willems P J
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.
Human molecular genetics 1998;7(6):999-1009.
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1998: Fransen E; Van Camp G; D'Hooge R; Vits L; Willems P J
Genotype-phenotype correlation in L1 associated diseases.
Journal of medical genetics 1998;35(5):399-404.
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1998: Verhoeven K; Van Laer L; Kirschhofer K; Legan P K; Hughes D C; Schatteman I; Verstreken M; Van Hauwe P; Coucke P; Chen A; Smith R J; Somers T; Offeciers F E; Van de Heyning P; Richardson G P; Wachtler F; Kimberling W J; Willems P J; Govaerts P J; Van Camp G
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
Nature genetics 1998;19(1):60-2.
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1998: Kunst H; Marres H; Van Camp G; Cremers C
Non-syndromic autosomal dominant sensorineural hearing loss: a new field of research.
Clinical otolaryngology and allied sciences 1998;23(1):9-17.
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1998: Lench N J; Markham A F; Mueller R F; Kelsell D P; Smith R J; Willems P J; Schatteman I; Capon H; Van De Heyning P J; Van Camp G
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.
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1998: Lench N; Houseman M; Newton V; Van Camp G; Mueller R
Connexin-26 mutations in sporadic non-syndromal sensorineural deafness.
Lancet 1998;351(9100):415.
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1998: Van Hul W; Balemans W; Van Hul E; Dikkers F G; Obee H; Stokroos R J; Hildering P; Vanhoenacker F; Van Camp G; Willems P J
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
American journal of human genetics 1998;62(2):391-9.
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1998: Tomek M S; Brown M R; Mani S R; Ramesh A; Srisailapathy C R; Coucke P; Zbar R I; Bell A M; McGuirt W T; Fukushima K; Willems P J; Van Camp G; Smith R J
Localization of a gene for otosclerosis to chromosome 15q25-q26.
Human molecular genetics 1998;7(2):285-90.
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1998: Chen A H; Mueller R F; Prasad S D; Greinwald J H; Manaligod J; Muilenburg A C; Verhoeven K; Van Camp G; Smith R J
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping.
Archives of otolaryngology--head & neck surgery 1998;124(1):20-4.
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1998: Kunst H; Marres H; Huygen P; Ensink R; Van Camp G; Van Hauwe P; Coucke P; Willems P; Cremers C
Nonsyndromic autosomal dominant progressive sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2.
The Laryngoscope 1998;108(1 Pt 1):74-80.
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1998: Scott D A; Kraft M L; Carmi R; Ramesh A; Elbedour K; Yairi Y; Srisailapathy C R; Rosengren S S; Markham A F; Mueller R F; Lench N J; Van Camp G; Smith R J; Sheffield V C
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Human mutation 1998;11(5):387-94.
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1998: Vits L; Chitayat D; Van Camp G; Holden J J; Fransen E; Willems P J
Evidence for somatic and germline mosaicism in CRASH syndrome.
Human mutation 1998;Suppl 1():S284-7.
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1997: Van Laer L; Van Camp G; van Zuijlen D; Green E D; Verstreken M; Schatteman I; Van de Heyning P; Balemans W; Coucke P; Greinwald J H; Smith R J; Huizing E; Willems P
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.
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1997: Brown M R; Tomek M S; Van Laer L; Smith S; Kenyon J B; Van Camp G; Smith R J
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.
American journal of human genetics 1997;61(4):924-7.
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1997: Kastury K; Taylor W E; Gutierrez M; Ramirez L; Coucke P J; Van Hauwe P; Van Camp G; Bhasin S
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.
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1997: Greinwald J H; Scott D A; Marietta J R; Carmi R; Manaligod J; Ramesh A; Zbar R I; Kraft M L; Elbedour K; Yairi Y; Musy M; Skvorak A B; Van Camp G; Srisailapathy C R; Lovett M; Morton C C; Sheffield V C; Smith R J
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.
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1997: Chen A; Wayne S; Bell A; Ramesh A; Srisailapathy C R; Scott D A; Sheffield V C; Van Hauwe P; Zbar R I; Ashley J; Lovett M; Van Camp G; Smith R J
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.
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1997: Kastury K; Taylor W E; Shen R; Arver S; Gutierrez M; Fisher C E; Coucke P J; Van Hauwe P; Van Camp G; Bhasin S
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.
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1997: Marres H; van Ewijk M; Huygen P; Kunst H; van Camp G; Coucke P; Willems P; Cremers C
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.
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1997: Van Laer L; Van Camp G; Green E D; Huizing E H; Willems P J
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.
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1997: Verhoeven K; Van Camp G; Govaerts P J; Balemans W; Schatteman I; Verstreken M; Van Laer L; Smith R J; Brown M R; Van de Heyning P H; Somers T; Offeciers F E; Willems P J
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.
American journal of human genetics 1997;60(5):1168-73.
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1997: Van Camp G; Coucke P J; Kunst H; Schatteman I; Van Velzen D; Marres H; van Ewijk M; Declau F; Van Hauwe P; Meyers J; Kenyon J; Smith S D; Smith R J; Djelantik B; Cremers C W; Van de Heyning P H; Willems P J
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.
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1997: Van Camp G; Willems P J; Smith R J
Nonsyndromic hearing impairment: unparalleled heterogeneity.
American journal of human genetics 1997;60(4):758-64.
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1997: Coucke P; Van Camp G; Demirhan O; Kabakkaya Y; Balemans W; Van Hauwe P; Van Agtmael T; Smith R J; Parving A; Bolder C H; Cremers C W; Willems P J
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.
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1997: Fransen E; Van Camp G; Vits L; Willems P J
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Human molecular genetics 1997;6(10):1625-32.
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1996: Fransen E; Vits L; Van Camp G; Willems P J
The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
American journal of medical genetics 1996;64(1):73-7.
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1996: O'Neill M E; Marietta J; Nishimura D; Wayne S; Van Camp G; Van Laer L; Negrini C; Wilcox E R; Chen A; Fukushima K; Ni L; Sheffield V C; Smith R J
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.
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1996: Van Camp G; Fransen E; Vits L; Raes G; Willems P J
A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
Human mutation 1996;8(4):391.
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1995: van Camp G; Coucke P; Balemans W; van Velzen D; van de Bilt C; van Laer L; Smith R J; Fukushima K; Padberg G W; Frants R R
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
Human molecular genetics 1995;4(11):2159-63.
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1995: Van Camp G; Coucke P; Speleman F; Van Roy N; Beyer E C; Oostra B A; Willems P J
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.
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1995: Fukushima K; Ramesh A; Srisailapathy C R; Ni L; Wayne S; O'Neill M E; Van Camp G; Coucke P; Jain P; Wilcox E R; Smith S D; Kenyon J B; Zbar R I; Smith R J
An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.
Genome research 1995;5(3):305-8.
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1995: Fukushima K; Ramesh A; Srisailapathy C R; Ni L; Chen A; O'Neill M; Van Camp G; Coucke P; Smith S D; Kenyon J B
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.
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1995: Van Camp G; Van Thienen M N; Handig I; Van Roy B; Rao V S; Milunsky A; Read A P; Baldwin C T; Farrer L A; Bonduelle M
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.
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1995: Fransen E; Lemmon V; Van Camp G; Vits L; Coucke P; Willems P J
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.
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1994: Fransen E; Schrander-Stumpel C; Vits L; Coucke P; Van Camp G; Willems P J
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.
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1994: Coucke P; Van Camp G; Djoyodiharjo B; Smith S D; Frants R R; Padberg G W; Darby J K; Huizing E H; Cremers C W; Kimberling W J
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.
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1994: Vits L; Van Camp G; Coucke P; Fransen E; De Boulle K; Reyniers E; Korn B; Poustka A; Wilson G; Schrander-Stumpel C
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
Nature genetics 1994;7(3):408-13.
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1994: Coucke P; Vits L; Van Camp G; Serville F; Lyonnet S; Kenwrick S; Rosenthal A; Wehnert M; Munnich A; Willems P J
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.
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1993: Van Camp G; Vits L; Coucke P; Lyonnet S; Schrander-Stumpel C; Darby J; Holden J; Munnich A; Willems P J
A duplication in the L1CAM gene associated with X-linked hydrocephalus.
Nature genetics 1993;4(4):421-5.
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1993: Van Hul W; Van Camp G; Stuyver L; Delabar J M; McInnis M G; Warren A C; Antonarakis S E; Van Broeckhoven C
A contiguous physical map of the pericentromeric region of chromosome 21q between D21Z1 and D21S13E.
Genomics 1993;15(3):626-30.
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1992: Van Camp G; Cruts M; Backhovens H; Wehnert A; Van Broeckhoven C
Unique sequence homology in the pericentromeric regions of the long arms of chromosomes 13 and 21.
Genomics 1992;12(1):158-60.
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1991: Van Camp G; Backhovens H; Cruts M; Wehnert A; Van Hul W; Stinissen P; Van Broeckhoven C
Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome.
Human genetics 1991;87(6):649-53.
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1991: Van Hul W; Backhovens H; Van Camp G; Stinissen P; Cruts M; Wehnert A; Van Broeckhoven C
Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques.
Human genetics 1991;87(2):109-11.
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1990: Van Camp G; Vandenberghe A; Van Broeckhoven C
An informative MspI polymorphism detected at the D21S16 locus.
Human genetics 1990;85(1):140.
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1990: Van Camp G; Van Hul W; Backhovens H; Stinissen P; Wehnert A; Patterson D; Vandenberghe A; Van Broeckhoven C
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.
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1990: Stinissen P; Van Hul W; Van Camp G; Backhovens H; Wehnert A; Vandenberghe A; Van Broeckhoven C
The pericentromeric 21 DNA marker pGSM21 (D21S13) contains an expressed HTF island.
Genomics 1990;7(1):119-22.
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1990: Stinissen P; Van Roy B; Van Camp G; Backhovens H; Partoens P; Wehnert A; Verniers H; Dumon J; Vandenberghe A; Van Broeckhoven C
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.
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1989: Van Camp G; Stinissen P; Van Hul W; Backhovens H; Wehnert A; Vandenberge A; Van Broeckhoven C
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.
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1989: Van Camp G; Stinissen P; Vandenberghe A; Van Broeckhoven C
A polymorphic locus [D21S144] is detected by probe pVC12 on chromosome 21.
Nucleic acids research 1989;17(11):4420.
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