Literature DB >> 10760311

Genetic causes of hearing loss.

P J Willems1.   

Abstract

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Year:  2000        PMID： 10760311     DOI： 10.1056/NEJM200004133421506

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  36 in total

1.  Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Authors:  J M Bork; L M Peters; S Riazuddin; S L Bernstein; Z M Ahmed; S L Ness; R Polomeno; A Ramesh; M Schloss; C R Srisailpathy; S Wayne; S Bellman; D Desmukh; Z Ahmed; S N Khan; V M Kaloustian; X C Li; A Lalwani; S Riazuddin; M Bitner-Glindzicz; W E Nance; X Z Liu; G Wistow; R J Smith; A J Griffith; E R Wilcox; T B Friedman; R J Morell
Journal:  Am J Hum Genet       Date:  2000-11-21       Impact factor: 11.025

Review 2.  Genetic disorders of transporters/channels in the inner ear and their relation to the kidney.

Authors:  Theo A Peters; Leo A H Monnens; Cor W R J Cremers; Jo H A J Curfs
Journal:  Pediatr Nephrol       Date:  2004-09-09       Impact factor: 3.714

3.  Enhancing the ethical conduct of genetic research: investigating views of parents on including their healthy children in a study on mild hearing loss.

Authors:  L Gillam; Z Poulakis; S Tobin; M Wake
Journal:  J Med Ethics       Date:  2006-09       Impact factor: 2.903

4.  A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

Authors:  Juan R González; Wenyi Wang; Ester Ballana; Xavier Estivill
Journal:  Hum Mutat       Date:  2006-11       Impact factor: 4.878

Review 5.  Neuro-otological syndromes for the neurologist.

Authors:  J Overell; A Lindahl
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-12       Impact factor: 10.154

6.  Structural models for the KCNQ1 voltage-gated potassium channel.

Authors:  Jarrod A Smith; Carlos G Vanoye; Alfred L George; Jens Meiler; Charles R Sanders
Journal:  Biochemistry       Date:  2007-11-14       Impact factor: 3.162

Review 7.  [Early hearing experience and sensitive developmental periods].

Authors:  A Kral
Journal:  HNO       Date:  2009-01       Impact factor: 1.284

8.  Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases.

Authors:  Katalin Komlósi; Anita Maász; Péter Kisfali; Kinga Hadzsiev; Judit Bene; Béla I Melegh; Béla Melegh; Mária Ablonczy; Krisztina Németh; György Fekete
Journal:  JIMD Rep       Date:  2012-11-02

9.  Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

Authors:  Robin L Bennett; Arno G Motulsky; Alan Bittles; Louanne Hudgins; Stefanie Uhrich; Debra Lochner Doyle; Kerry Silvey; C Ronald Scott; Edith Cheng; Barbara McGillivray; Robert D Steiner; Debra Olson
Journal:  J Genet Couns       Date:  2002-04       Impact factor: 2.537

10.  Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.

Authors:  Da-Yong Wang; Yi-Chen Wang; Dominique Weil; Ya-Li Zhao; Shao-Qi Rao; Liang Zong; Yu-Bin Ji; Qiong Liu; Jian-Qiang Li; Huan-Ming Yang; Yan Shen; Cindy Benedict-Alderfer; Qing-Yin Zheng; Christine Petit; Qiu-Ju Wang
Journal:  BMC Med Genet       Date:  2010-05-26       Impact factor: 2.103
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