Results 21 to 30 of about 9,773 (106)

The genetic bases for non-syndromic hearing loss among Chinese [PDF]

Journal of Human Genetics, 2009
Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing.
Xiao Mei, Ouyang, Denise, Yan, Hui Jun, Yuan, Dai, Pu, Li Lin, Du, Don Yi, Han, Xue Zhong, Liu   +6 more
openaire   +2 more sources

GJB2 Mutations in Non Syndromic Hearing Loss in the Republic of Macedonia [PDF]

Balkan Journal of Medical Genetics, 2009
GJB2 Mutations in Non Syndromic Hearing Loss in the Republic of MacedoniaHearing impairment is a common sensori-neural disorder with the incidence of profound deafness in one per 1,000 births. Non syndromic recessive deafness (NSHL), accounts for approximately 80% of cases of hereditary deafness.
Sukarova Stefanovska E, Momirovska, A, Cakar M, Efremov GD   +4 more
openaire   +2 more sources

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15 [PDF]

Human Molecular Genetics, 1995
Progressive hearing loss affects approximately 50% of the elderly by the age of 80, and is most likely caused by an interaction of genetic and environmental factors. Identification of the genes responsible for hereditary hearing loss is therefore important.
Van Camp, G., Coucke, P., Baelemans, W., van Velzen, D., van der Bilt, C., Van Laer, L., Smith, R.J.H., Fukushima, K., Padberg, G., Frants, R.R., Van de Heyning, P., Smith, S.D., Huizing, E.H., Willems, P.J.   +13 more
openaire   +5 more sources

Gene Therapy for Non-Syndromic Hearing Loss

Head and Neck Diseases Conflux
Hereditary hearing loss accounts for over 60% of congenital deafness cases, with non-syndromic hearing loss (NSHL) representing the most common subtype. Typically caused by monogenic mutations, NSHL presents a promising candidate for gene therapy. Recent advances in deciphering the genetic underpinnings of deafness and developing gene delivery systems ...
Yu Qi, Fangzhi Tan, Maoli Duan, Ling Lu
openaire   +1 more source

Mutations of the Connexin 26 gene in families with non-syndromic hearing loss

Molecular Medicine Reports, 2011
Autosomal recessive non-syndromic hearing impairment (ARNSHI) is caused by mutations in the gap junction gene GJB2 (Connexin 26; Cx26) in numerous human populations. The aim of this study was to determine the frequency of six GJB2 mutations in 50 Syrian families with congenital deafness and in 180 controls.
Walid, Al-Achkar, Faten, Moassass, Bassel, Al-Halabi, Ayman, Al-Ablog   +3 more
openaire   +3 more sources

Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis

European Journal of Human Genetics
Abstract Age-related (AR) hearing loss (HL) is the most prevalent sensorineural disorder in older adults. Here we demonstrate that rare-variants in well-established Mendelian HL genes play an important role in ARHL etiology. In all we identified 32 Mendelian HL genes which are associated with ARHL.
Diana M. Cornejo-Sanchez, Thashi Bharadwaj, Rui Dong, Gao T. Wang, Isabelle Schrauwen, Andrew T. DeWan, Suzanne M. Leal   +6 more
openaire   +2 more sources

Hereditary Non-Syndromic Sensorineural Hearing Loss [PDF]

The Journal of Molecular Diagnostics, 2004
openaire   +1 more source

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population. [PDF]

PLoS One, 2023
Vallian Broojeni J, Kazemi A, Rezaei H, Vallian S.   +3 more
europepmc   +1 more source

A novel MYO6 variant identified in a Chinese family with autosomal dominant non-syndromic hearing loss. [PDF]

BMC Med Genomics
Wang J, Zhu QW, Cui AM, Lou HQ.
europepmc   +1 more source

Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature. [PDF]

World J Clin Cases, 2023
Xia CF, Yan R, Su WW, Liu YH.
europepmc   +1 more source