Results 101 to 110 of about 1,391 (157)

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies. [PDF]

Int J Mol Sci
Morris JA, Gonzalez T, Blanton SH, Angeli SI, Liu XZ.   +4 more
europepmc   +1 more source

Recent Progress in Mechanism-Based Therapies for <i>GJB2</i>-Related Hearing Loss. [PDF]

Int J Mol Sci
Liu C, Wang X, Sun Y.
europepmc   +1 more source

Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.

, 2003
Modrate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene: Mutations in the GJB2 (connexin 26-Cx26) gene are responsible for 20-50% of cases with prelingual non-syndromic deafness in a large part of ...
Tekin, M, Incesulu, A, Duman, T, Boğoçlu, G, Akar, N, Cin, S   +5 more
core  

A Novel Recurrent 200 kb <i>CRYL1</i> Deletion Underlies DFNB1A Hearing Loss in Patients from Northwestern Spain. [PDF]

Genes (Basel)
Cifuentes GA, Diñeiro M, Huete AR, Capín R, Santiago A, Vargas AAR, Carrero D, Martínez EL, Aguiar B, Fischer A, Rad R, Costales M, Cabanillas R, Cadiñanos J.   +13 more
europepmc   +1 more source

Exploring the Clinical and Psychosocial Impact of Genetic Diagnosis in Congenital Hearing Loss: A Comparative Study Between Syndromic and Non-Syndromic Conditions. [PDF]

Children (Basel)
Orzan E, Ceretta C, Bresciani G, Fantoni M, Michieletto P, Di Cesare T, Marchi R, Bonati MT, Feresin A.   +8 more
europepmc   +1 more source

Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort. [PDF]

Biochem Genet
Reinoso-Castillo A, Ramzan M, Carrera-Gonzalez A, Rivas-Iglesias C, Montufar S, Vinueza-Gavilanes R, Smith C, Llamos-Paneque A, Tekin M.   +8 more
europepmc   +1 more source

Population-Specific Mutational Spectrum of Autosomal Recessive Nonsyndromic Hearing Loss in Croatian Roma: Implications for Clinical Genetics. [PDF]

Genes (Basel)
Kutija Fučkar I, Zajc Petranović M, Martinović Klarić I, Peričić Salihović M, Barać Lauc L.   +4 more
europepmc   +1 more source

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients. [PDF]

Int J Mol Sci, 2023
Pál M, Nagy D, Neller A, Farkas K, Leprán-Török D, Nagy N, Füstös D, Nagy R, Németh A, Szilvássy J, Rovó L, Kiss JG, Széll M.   +12 more
europepmc   +1 more source

Prelingual başlangıçlı sendromik olmayan işitme kayıplı çocuklarda, connexin 26 (GJB2) geni 35delG mutasyonu sıklığı /

, 2004
İşitme bozuklukları yaklaşık olarak 1000 çocuktan birini etkilemekte olup, vakaların yarısı genetik nedenlidir. Genetik nedenli işitme kayıplarının büyük çoğunluğu prelingual, sendromik olmayan sensörinöral tipte olup, % 80'i otozomal resesif olarak ...
Çomak, Elif. author 18462, Ergürhan İlhan, İnci. thesis advisor 18463, Süleyman Demirel Üniversitesi. Tıp Fakültesi. Çocuk Sağlığı ve Hastalıkları Anabilim Dalı. 10668 issuing body   +2 more
core  

External quality assessment of genetic testing for hereditary hearing loss in Shanghai and other regions. [PDF]

Pract Lab Med
Bao Y, Zhang P, Quan J, Yang X, Xiao Y, Hu X.   +5 more
europepmc   +1 more source