Results 121 to 130 of about 1,391 (157)

Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487). [PDF]

PLoS One
Ren B, Wu Y, Gan W, Zhang Q, Yang D, Cao W, Zhang X, Jiang Y, Zhang Y, Guo B, Tie Y, Liu J, Cai G, Wang Y, Ma Y.   +14 more
europepmc   +1 more source

Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients. [PDF]

J Mol Neurosci
Sayed-Ahmed MM, El-Bassyouni HT, Afifi HH, Essawi ML, Taher MB, Gadelhak MI, Zaytoun RA, Abdelmonem AA, Elbagoury NM.   +8 more
europepmc   +1 more source

Connexin 26 in Hearing Health and Disease: StructuralFoundations, Mutation Mechanisms, and Therapeutic Perspectives. [PDF]

Int J Mol Sci
Qiu W, Schneider K, Guo Y.
europepmc   +1 more source

Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles. [PDF]

Children (Basel)
Franz L, Incognito A, Gallo C, Turolla L, Scquizzato E, Cenedese R, Matarazzo A, Savegnago D, Zanatta P, Genovese E, de Filippis C, Marioni G.   +11 more
europepmc   +1 more source

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants. [PDF]

Eur J Pediatr
Elbagoury NM, Ashaat EA, Mekkawy MK, Mohamed RY, Askoura AM, Milad PM, Essawi ML.   +6 more
europepmc   +1 more source

GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss. [PDF]

Sci Rep
Chen Y, Zhao P, Lin Q, Zeng Y, Qiu X, Huang T, Tang J, Xu L.   +7 more
europepmc   +1 more source

Genetic analysis of 106 sporadic cases with hearing loss in the UAE population. [PDF]

Hum Genomics
Tlili A, Mahfood M, Al Mutery A, Chouchen J.   +3 more
europepmc   +1 more source

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America. [PDF]

Genes (Basel)
De Rosa MA, Bernardi MT, Kleppe S, Walz K.   +3 more
europepmc   +1 more source

The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar. [PDF]

Sci Rep
Alkhidir S, El-Akouri K, Al-Dewik N, Khodjet-El-Khil H, Okashah S, Islam N, Ben-Omran T, Al-Shafai M.   +7 more
europepmc   +1 more source

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study. [PDF]

BMC Genomics
Domínguez-Ruiz M, Murillo-Cuesta S, Contreras J, Cantero M, Garrido G, Martín-Bernardo B, Gómez-Rosas E, Fernández A, Del Castillo FJ, Montoliu L, Varela-Nieto I, Del Castillo I.   +11 more
europepmc   +1 more source