Literature DB >> 11332404

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.

E Fransen, M Verstreken, S J Bom, F Lemaire, M H Kemperman, Y J De Kok, F L Wuyts, W I Verhagen, P L Huygen, W T McGuirt, R J Smith, L V Van Maldergem, F Declau, C W Cremers, P H Van De Heyning, F P Cremers, G Van Camp.   

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Year:  2001        PMID： 11332404      PMCID： PMC1734719          DOI： 10.1136/jmg.38.1.61

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

Review 1.  Genes important for otoneurological diagnostic purposes - current status and future prospects.

Authors:  K Pawlak-Osiñska; K Linkowska; T Grzybowski
Journal:  Acta Otorhinolaryngol Ital       Date:  2018-06       Impact factor: 2.124

2.  Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.

Authors:  Seung-Hyun Bae; Nahid G Robertson; Hyun-Ju Cho; Cynthia C Morton; Da Jung Jung; Jeong-In Baek; Soo-Young Choi; Jaetae Lee; Kyu-Yup Lee; Un-Kyung Kim
Journal:  Hum Mutat       Date:  2014-12       Impact factor: 4.878

3.  The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Authors:  Celia Zazo Seco; Mieke Wesdorp; Ilse Feenstra; Rolph Pfundt; Jayne Y Hehir-Kwa; Stefan H Lelieveld; Steven Castelein; Christian Gilissen; Ilse J de Wijs; Ronald Jc Admiraal; Ronald Je Pennings; Henricus Pm Kunst; Jiddeke M van de Kamp; Saskia Tamminga; Arjan C Houweling; Astrid S Plomp; Saskia M Maas; Pia Am de Koning Gans; Sarina G Kant; Christa M de Geus; Suzanna Gm Frints; Els K Vanhoutte; Marieke F van Dooren; Marie-José H van den Boogaard; Hans Scheffer; Marcel Nelen; Hannie Kremer; Lies Hoefsloot; Margit Schraders; Helger G Yntema
Journal:  Eur J Hum Genet       Date:  2016-12-21       Impact factor: 4.246

4.  Bayesian quantification of sensory reweighting in a familial bilateral vestibular disorder (DFNA9).

Authors:  Bart B G T Alberts; Luc P J Selen; Wim I M Verhagen; Ronald J E Pennings; W Pieter Medendorp
Journal:  J Neurophysiol       Date:  2017-12-13       Impact factor: 2.714

5.  Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.

Authors:  Tomoko Makishima; Clara I Rodriguez; Nahid G Robertson; Cynthia C Morton; Colin L Stewart; Andrew J Griffith
Journal:  Hum Genet       Date:  2005-10-28       Impact factor: 4.132

Review 6.  Function and expression pattern of nonsyndromic deafness genes.

Authors:  Nele Hilgert; Richard J H Smith; Guy Van Camp
Journal:  Curr Mol Med       Date:  2009-06       Impact factor: 2.222

7.  Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.

Authors:  P K Kommareddi; T S Nair; Y Raphael; S A Telian; A H Kim; H A Arts; H K El-Kashlan; T E Carey
Journal:  J Assoc Res Otolaryngol       Date:  2007-10-10

8.  Mutation in the COCH gene is associated with superior semicircular canal dehiscence.

Authors:  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 L M Huygen; Thomas L Casavant; Richard J H Smith
Journal:  Am J Med Genet A       Date:  2009-02       Impact factor: 2.802

9.  COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.

Authors:  Kyung Seok Oh; Daniel Walls; Richard J Smith; Jae Young Choi; Heon Yung Gee; Jinsei Jung; Sun Young Joo; Jung Ah Kim; Jee Eun Yoo; Young Ik Koh; Da Hye Kim; John Hoon Rim; Hye Ji Choi; Hye-Youn Kim; Seyoung Yu
Journal:  Hum Genet       Date:  2021-09-16       Impact factor: 5.881

10.  Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.

Authors:  Thomas Parzefall; Alexandra Frohne; Martin Koenighofer; Andreas Kirchnawy; Berthold Streubel; Christian Schoefer; Wolfgang Gstoettner; Klemens Frei; Trevor Lucas
Journal:  Wien Klin Wochenschr       Date:  2017-07-21       Impact factor: 1.704
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