Literature DB >> 12408070

Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21.

Patrick L M Huygen1, Steven J H Bom, Guy Van Camp, Cor W R J Cremers.   

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Year:  2002        PMID： 12408070     DOI： 10.1159/000066820

Source DB:  PubMed          Journal:  Adv Otorhinolaryngol        ISSN： 0065-3071


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  3 in total

1.  Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.

Authors:  Regie Lyn P Santos; Franziska M Häfner; Patrick L M Huygen; Thomas E Linder; Albert A Schinzel; Thomas Spillmann; Suzanne M Leal
Journal:  Audiol Neurootol       Date:  2006-05-23       Impact factor: 1.854

2.  DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Authors:  Michael S Hildebrand; Matías Morín; Nicole C Meyer; Fernando Mayo; Silvia Modamio-Hoybjor; Angeles Mencía; Leticia Olavarrieta; Carmelo Morales-Angulo; Carla J Nishimura; Heather Workman; Adam P DeLuca; Ignacio del Castillo; Kyle R Taylor; Bruce Tompkins; Corey W Goodman; Isabelle Schrauwen; Maarten Van Wesemael; K Lachlan; A Eliot Shearer; Terry A Braun; Patrick L M Huygen; Hannie Kremer; Guy Van Camp; Felipe Moreno; Thomas L Casavant; Richard J H Smith; Miguel A Moreno-Pelayo
Journal:  Hum Mutat       Date:  2011-06-07       Impact factor: 4.878

3.  Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33.

Authors:  C M Pusch; B Meyer; S Kupka; R J Smith; A K Lalwani; H-P Zenner; N Blin; P Nürnberg; M Pfister
Journal:  J Mol Med (Berl)       Date:  2004-03-24       Impact factor: 4.599
  3 in total

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