Results 111 to 120 of about 1,391 (157)

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

Determinação da frequencia dos alelos 35delG no gene da conexina 26 em amostras da população brasileira

, 2018
Orientadores: Edi Lucia Sartorato, Andrea Trevas Maciel GuerraTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias MedicasResumo: Tendo em vista a complexidade do mecanismo da audição, não é difícil compreender que a surdez possa ...
Oliveira, Camila Andrea de
core  

<i>COCH</i>-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations. [PDF]

Genes (Basel)
Balogoun R, Serey-Gaut M, Pingault V, Lemiere I, Lina-Granade G, Delplancq G, Guerrot AM, Toutain A, Dupin-Deguine D, Legendre M, Colin E, Loundon N, Jonard L, Marlin S.   +13 more
europepmc   +1 more source

Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case-Cohort Study. [PDF]

Int J Neonatal Screen
Li J, Wu B, Liu W.
europepmc   +1 more source

Comparative analysis of allele frequencies of 15 deafness gene variants between hearing-loss and normal populations in Henan, China. [PDF]

Heliyon, 2023
Tian Y, Chang A, Jing Zhao, Tian X, Zhao Z, Shi Y.   +5 more
europepmc   +1 more source

Exploring Embryonic and Postnatal Gene Therapy Approaches for GJB2-Related Deafness: A Scoping Review. [PDF]

Audiol Res
Caragli V, Martini A.
europepmc   +1 more source

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates. [PDF]

Eur J Hum Genet
Kriukelis R, Gabbett MT, Beswick R, McInerney-Leo AM, Driscoll C, Liddle K.   +5 more
europepmc   +1 more source

Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss. [PDF]

J Int Adv Otol
Zhuri D, Sezginer Guler H, Yalcintepe S, Demir S, Atli E, Ikbal Atli E, Gurkan H.   +6 more
europepmc   +1 more source

Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns. [PDF]

Open Med (Wars)
Lian J, Wu T, Jin A, Wang H, Cheng Z.
europepmc   +1 more source

Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China. [PDF]

Front Mol Biosci
Huang J, Huang X, Xie X, Xin X.
europepmc   +1 more source