✦ LIBER ✦

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss

✍ Scribed by Kwanghyuk Lee; Muhammad Ansar; Paula B. Andrade; Bushra Khan; Regie Lyn P. Santos-Cortez; Wasim Ahmad; Suzanne M. Leal

Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 293 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34407

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

GJB2 mutations in Iranians with autosoma

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

✍ Hossein Najmabadi; Robert A. Cucci; Solmaz Sahebjam; Nafiseh Kouchakian; Mohamma 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 142 KB

Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ~ 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that e

Screening of families with autosomal rec

Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario

✍ Maheshwari, Manjula ;Vijaya, R. ;Ghosh, Manju ;Shastri, Shivaram ;Kabra, Madhuli 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB 👁 2 views

Novel sequence variants in the TMC1 gene

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment

✍ Regie Lyn P. Santos; Muhammad Wajid; Mohammad Nasim Khan; Nathan McArthur; Thanh 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB

Though many hearing impairment genes have been identified, only a few of these genes have been screened in population studies. For this study, 168 Pakistani families with autosomal recessive hearing impairment not due to mutations in the GJB2 (Cx26) gene underwent a genome scan. Two-point and multip

Novel missense mutations of TMPRSS3 in t

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

✍ S. Masmoudi; S.E. Antonarakis; T. Schwede; A.M. Ghorbel; M. Grati; M.-P. Pappasa 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB

Novel missense mutations of TMPRSS3 in t

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

✍ Saber Masmoudi; Stylianos E. Antonarakis; Torsten Schwede; Abdel Monem Ghorbel; 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 575 KB

Recently the TMPRSS3 gene, which encodes a transmembrane serine protease, was found to be responsible for two non-syndromic recessive deafness loci located on human chromosome 21q22.3, DFNB8 and DFNB10. We found evidence for linkage to the DFNB8/10 locus in two unrelated consanguineous Tunisian fami

GJB2 mutations in patients with non-synd

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary

✍ Tímea Tóth; Susan Kupka; Birgit Haack; Kathrin Riemann; Simone Braun; Ferenc Faz 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB

Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, c.35delG, accounts for the majority of mutations in Caucasian patients with HI. In the present study we screened 500 healthy con