Literature DB >> 11950859

Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome.

M Hmani-Aifa, S Ben Arab, K Kharrat, D J Orten, A Boulila-Elgaied, M Drira, S Hachicha, W J Kimberling, H Ayadi.   

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Year:  2002        PMID： 11950859      PMCID： PMC1735096          DOI： 10.1136/jmg.39.4.281

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


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  6 in total

Review 1.  Na-coupled bicarbonate transporters of the solute carrier 4 family in the nervous system: function, localization, and relevance to neurologic function.

Authors:  D Majumdar; M O Bevensee
Journal:  Neuroscience       Date:  2010-09-25       Impact factor: 3.590

2.  Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Authors:  Mounira Hmani-Aifa; Zeineb Benzina; Fareeha Zulfiqar; Houria Dhouib; Amber Shahzadi; Abdelmonem Ghorbel; Ahmed Rebaï; Peter Söderkvist; Sheikh Riazuddin; William J Kimberling; Hammadi Ayadi
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

Review 3.  Usher Syndrome.

Authors:  Alessandro Castiglione; Claes Möller
Journal:  Audiol Res       Date:  2022-01-11

Review 4.  Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.

Authors:  M Stemerdink; B García-Bohórquez; R Schellens; G Garcia-Garcia; E Van Wijk; J M Millan
Journal:  Hum Genet       Date:  2021-07-30       Impact factor: 4.132

5.  Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).

Authors:  Alessandro Iannaccone; Carmen C Brewer; Peiyao Cheng; Jacque L Duncan; Maureen G Maguire; Isabelle Audo; Allison R Ayala; Paul S Bernstein; Gavin M Bidelman; Janet K Cheetham; Richard L Doty; Todd A Durham; Robert B Hufnagel; Mark H Myers; Katarina Stingl; Wadih M Zein
Journal:  Am J Med Genet A       Date:  2021-07-30       Impact factor: 2.578

6.  Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Authors:  Talah T Wafa; Rabia Faridi; Kelly A King; Christopher Zalewski; Rizwan Yousaf; Julie M Schultz; Robert J Morell; Julie Muskett; Amy Turriff; Ekaterini Tsilou; Andrew J Griffith; Thomas B Friedman; Wadih M Zein; Carmen C Brewer
Journal:  Clin Genet       Date:  2020-11-03       Impact factor: 4.438
  6 in total

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