Results 91 to 100 of about 683 (138)

SLC26A4 pathogenic variants as a third cause of hearing loss: Role of three exons in DFNB4 deafness in Iran

Indian Journal of Otology, 2019
Sirous Zeinali, Elham Davoudi-Dehaghani, Nejat Mahdieh, Atefeh Shirkavand, Hamideh Bagherian, Samira DabbaghBagheri   +5 more
openaire   +1 more source

Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population. [PDF]

Arch Gynecol Obstet
Lu J, Chen J, Mei L, Zhao J, Wang C, Ma C, Luan S, Wan Y.   +7 more
europepmc   +1 more source

Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants. [PDF]

Int J Mol Med
Bernardinelli E, Jamontas R, Matulevičius A, Huber F, Nasser H, Klaus S, Zhu H, Gao J, Dossena S.   +8 more
europepmc   +1 more source

Environ Health Perspect [PDF]

Perchlorate has been detected in groundwater in many parts of the United States, and recent detection in vegetable and dairy food products indicates that contamination by perchlorate is more widespread than previously thought.

core  

Assessing the Functional Significance of Novel and Rare Variants of the <i>SLC26A4</i> Gene Found in Patients with Hearing Loss by Minigene Assay. [PDF]

Int J Mol Sci
Danilchenko VY, Panina EA, Zytzar MV, Orishchenko KE, Posukh OL.   +4 more
europepmc   +1 more source

Clinical Implementation of Expanded Carrier Screening in Pregnant Women at Early Gestational Weeks: A Chinese Cohort Study. [PDF]

Genes (Basel), 2021
Shi M, Liauw AL, Tong S, Zheng Y, Leung TY, Chong SC, Cao Y, Lau TK, Choy KW, Chung JPW.   +9 more
europepmc   +1 more source

Molekulargenetische Diagnostik von Connexin 26 bei genetisch bedingter, nicht-syndromaler, sensorineuraler Schwerhörigkeit [PDF]

, 2001
HD Priv.-Doz. Dr. J. Kunz, Petersen, Lars   +1 more
core   +1 more source

Clinical characteristics and hearing loss etiology of cochlear implantees undergoing surgery in their teens, 20s, and 30s. [PDF]

Eur Arch Otorhinolaryngol
Choe G, Lim JW, Chun YJ, Han JH, Kim BJ, Choi BY.   +5 more
europepmc   +1 more source

Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene. [PDF]

Sci Rep, 2021
Hu CJ, Lu YC, Tsai CY, Chan YH, Lin PH, Lee YS, Yu IS, Lin SW, Liu TC, Hsu CJ, Yang TH, Cheng YF, Wu CC.   +12 more
europepmc   +1 more source

Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: A case report. [PDF]

Clin Pediatr Endocrinol
Miura A, Nakagawa T, Sogi C, Shima H, Adachi M, Honkura Y, Kikuchi A, Kanno J.   +7 more
europepmc   +1 more source