Results 101 to 110 of about 5,521 (170)

E114G de Novo Mutation in GJB2 Gene in a Chinese Patient with Classical Vohwinkel Syndrome. [PDF]

Int Med Case Rep J
Chen B, Xu X, Zhou F.
europepmc   +1 more source

Vohwinkel syndrome with de novo heterozygous mutation in the GJB2 gene - c.175G>A (p. Gly59Ser). [PDF]

An Bras Dermatol
Duran-Lemarie MC, Cano-Aguilar LE, Benitez-Alonso EO, Cruz-Sotomayor D, Villela-Segura U, Proy-Trujillo H.   +5 more
europepmc   +1 more source

Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26). [PDF]

PLoS One
Teryutin FM, Pshennikova VG, Solovyev AV, Romanov GP, Fedorova SA, Barashkov NA.   +5 more
europepmc   +1 more source

The association between GJB2 gene (producing Cx26 protein) and the ventricular storm: A case report. [PDF]

ARYA Atheroscler
Nikoo MH, Hatamnejad MR, Emkanjoo Z, Arjangzadeh A, Motahari Moadab M, Bazrafshan M, Bazrafshan M, Bazrafshan Drissi H.   +7 more
europepmc   +1 more source

The Segregation of p.Arg68Ter-CLDN14 Mutation in a Syrian Deaf Family, Phenotypic Variations, and Comparative Analysis with the GJB2 Gene. [PDF]

Genes (Basel)
Tlili A, Mutery AA, Chouchen J.
europepmc   +1 more source

Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment. [PDF]

Intractable Rare Dis Res, 2021
Hegde S, Hegde R, Kulkarni SS, Das KK, Gai PB, Bulgouda R.   +5 more
europepmc   +1 more source

[Analysis on trend of hearing changes in infants with p.V37I mutation in <i>GJB2</i> gene at different months of age]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Gao S, Wen C, Yu Y, Li Y, Deng L, Ruan Y, Xie J, Huang L.   +7 more
europepmc   +1 more source

[Clinical hearing phenotypes analysis of <i>GJB2</i> gene p.V37I homozygote and compound heterozygote mutation in infants]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Ruan Y, Wen C, Cheng X, Zhang W, Xie J, Li Y, Deng L, Huang L.   +7 more
europepmc   +1 more source

D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome

Indian Journal of Dermatology, Venereology, and Leprology, 2012
Ying, Qiu, Zhanxiang, Wang, Nan, Chen, Yali, Song, Zhenying, Wang, Li, Zhang   +5 more
openaire   +2 more sources

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China. [PDF]

Front Genet
She Q, Ou HL, Tang EF, Huang W, Tan WH, Zeng ML, Pan XF, Liu CB.   +7 more
europepmc   +1 more source