Results 111 to 120 of about 514 (125)

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations

Human Mutation, 2001
Glenn E Green, Val C. Sheffield, Colleen A Campbell   +2 more
exaly  

Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct

International Journal of Pediatric Otorhinolaryngology, 2020
Oğuz Öztürk, Ayşe Begüm Ceviz, Kadir Serkan Orhan   +2 more
exaly  

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

European Journal of Human Genetics, 2008
Manuela Villamar, Alejandra Pera, Antonio Viñuela   +2 more
exaly  

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

Journal of Human Genetics, 2009
Andrew J Griffith, Zubair M Ahmed, Thomas B. Friedman   +2 more
exaly  

A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3

American Journal of Medical Genetics, Part A, 2005
Muahmmad Ansar, Maria H Chahrour, Wasim Ahmad   +2 more
exaly  

Variants in CIB2 cause DFNB48 and not USH1J

Clinical Genetics, 2018
Duygu Duman, Mojgan Babanejad, Hela Azaiez   +2 more
exaly  

Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31

American Journal of Medical Genetics, Part A, 2005
Muahmmad Ansar, Maria H Chahrour, Asif Mir   +2 more
exaly  

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Nature Genetics, 2012
Muahmmad Ansar, Arnaud Giese
exaly  

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

American Journal of Human Genetics, 2011
Melanie Bahlo, Muahmmad Ansar, Kwanghyuk Lee   +2 more
exaly  

Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48

Clinical Genetics, 2013
Asad Jan
exaly