Literature DB >> 12711741

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

Tamar Ben-Yosef1, Seth L Ness, Anne C Madeo, Adi Bar-Lev, Jessica H Wolfman, Zubair M Ahmed, Robert J Desnick, Judith P Willner, Karen B Avraham, Harry Ostrer, Carole Oddoux, Andrew J Griffith, Thomas B Friedman.   

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Year:  2003        PMID： 12711741     DOI： 10.1056/NEJMoa021502

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


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  35 in total

Review 1.  Genetics and pathological mechanisms of Usher syndrome.

Authors:  Denise Yan; Xue Z Liu
Journal:  J Hum Genet       Date:  2010-04-09       Impact factor: 3.172

2.  Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain.

Authors:  Stuart W Webb; Nicolas Grillet; Leonardo R Andrade; Wei Xiong; Lani Swarthout; Charley C Della Santina; Bechara Kachar; Ulrich Müller
Journal:  Development       Date:  2011-04       Impact factor: 6.868

3.  A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Authors:  Inga Ebermann; Hendrik P N Scholl; Peter Charbel Issa; Elvir Becirovic; Jürgen Lamprecht; Bernhard Jurklies; José M Millán; Elena Aller; Diana Mitter; Hanno Bolz
Journal:  Hum Genet       Date:  2006-12-15       Impact factor: 4.132

4.  Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Authors:  Stuart A Scott; Lisa Edelmann; Liu Liu; Minjie Luo; Robert J Desnick; Ruth Kornreich
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

5.  In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.

Authors:  Shamim Saleha; Muhammad Ajmal; Muhammad Jamil; Muhammad Nasir; Abdul Hameed
Journal:  Int J Ophthalmol       Date:  2016-05-18       Impact factor: 1.779

6.  Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.

Authors:  Edwin M Stone; Xunda Luo; Elise Héon; Byron L Lam; Richard G Weleber; Jennifer A Halder; Louisa M Affatigato; Jacqueline B Goldberg; Alexander Sumaroka; Sharon B Schwartz; Artur V Cideciyan; Samuel G Jacobson
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-12-28       Impact factor: 4.799

7.  A new spontaneous mutation in the mouse protocadherin 15 gene.

Authors:  Q Y Zheng; H Yu; J L Washington; L B Kisley; Y S Kikkawa; K S Pawlowski; C G Wright; K N Alagramam
Journal:  Hear Res       Date:  2006-08-02       Impact factor: 3.208

8.  Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F.

Authors:  Kumar N Alagramam; John S Stahl; Sherri M Jones; Karen S Pawlowski; Charles G Wright
Journal:  J Assoc Res Otolaryngol       Date:  2005-06-10

Review 9.  [Genetics of Usher syndrome].

Authors:  H J Bolz
Journal:  Ophthalmologe       Date:  2009-06       Impact factor: 1.059

Review 10.  Genetics of peripheral vestibular dysfunction: lessons from mutant mouse strains.

Authors:  Sherri M Jones; Timothy A Jones
Journal:  J Am Acad Audiol       Date:  2014-03       Impact factor: 1.664
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