Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Kristien Verhoeven, Lut Van Laer, Karin Kirschhofer, +17

Nature Genetics

Developmental BiologyGenetic DisorderGeneticsAudiologyAuditory Physiology +8

CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

Lisa M. Astuto, Julie M. Bork, Michael D. Weston, +24

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderPhenotype HeterogeneityGeneticsGenetic Epidemiology +4

Two Frequent Missense Mutations in Pendred Syndrome

Peter Van Hauwe, Lorraine A. Everett, Paul Coucke, +15

Human Molecular Genetics

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

C. W. R. J. Cremers, Cuny Bolder, R.J.C. Admiraal, +5

Archives of Otolaryngology - Head and Neck Surgery

Progressive Sensorineural DeafnessVestibular SystemHealth SciencesPediatric OtolaryngologyAudiology +10

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region

Peter Van Hauwe, Paul Coucke, R.J.H. Ensink, +3

American Journal of Medical Genetics

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p

Achih Chen, Sigrid Wayne, Adam M. Bell, +10

American Journal of Medical Genetics

GeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene IdentificationAffected Siblings +20

Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome

Paul Coucke, Peter Van Hauwe, Lorraine A. Everett, +8

Journal of Medical Genetics

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

Arjan Pm de Brouwer, Ronald J. E. Pennings, Marjolijn Roeters, +11

Human Genetics

Molecular PhysiologySignal TransductionGenetic DisorderNatural SciencesGenetics +6

Linkage Analysis of Progressive Hearing Loss in Five Extended Families Maps the DFNA2 Gene to a 1.25-Mb Region on Chromosome 1p

Guy Van Camp, Paul Coucke, Hendrik Kunst, +14

Genomics

Developmental BiologyDfna2 GeneGenetic DisorderGeneticsAudiology +11

Complementary Deoxyribonucleic Acid Cloning and Characterization of a Putative Human Axonemal Dynein Light Chain Gene¹

Kumar Kastury, Wayne E. Taylor, Roquing Shen, +7

The Journal of Clinical Endocrinology & Metabolism

CytogeneticsGeneticsGenomic MechanismMolecular BiologyMolecular Genetics +17