[HTML][HTML] The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
CL Ford, WJ Riggs, T Quigley, OP Keifer Jr, JP Whitton… - Human Genetics, 2023 - Springer
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …
[HTML][HTML] Precision medicine shows promise to advance the care of individuals with hearing loss
M Pei, BM Colbert, MR Smeal, SH Blanton… - Medical Research …, 2022 - esmed.org
Hearing loss (HL) is the most common sensory disorder worldwide and arises from a
heterogeneous set of genetic and environmental etiologies. Currently, therapy for …
heterogeneous set of genetic and environmental etiologies. Currently, therapy for …
From the double helix to the personal genomes
D Kumar - Apollo Medicine, 2023 - journals.sagepub.com
In 1954, the seminal short paper in the Nature from James Watson and Francis Crick
proposed the double helix model of deoxyribose nucleic acid. This amateur-looking concept …
proposed the double helix model of deoxyribose nucleic acid. This amateur-looking concept …
[HTML][HTML] Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects
Objective: To find possible association of R1939W and P1987R variants of OTOF gene with
severe to profound NSSHL in cochlear implant subjects. Methods: It was a case control …
severe to profound NSSHL in cochlear implant subjects. Methods: It was a case control …
[HTML][HTML] Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome
Nephrotic syndrome arising from monogenic mutations differs substantially from acquired
ones in their clinical prognosis, progression, and disease management. Several pathogenic …
ones in their clinical prognosis, progression, and disease management. Several pathogenic …
[HTML][HTML] Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 …
CRDAC Quaio, AVC Coelho, LMS Moura… - Frontiers in …, 2022 - frontiersin.org
Hearing loss (HL) is a common sensory deficit in humans and represents an important
clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 …
clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 …
Genetics landscape of nonsyndromic hearing loss in Indian populations
Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most
prevalent chronic disorder in children. It affects the physical and mental conditions of a large …
prevalent chronic disorder in children. It affects the physical and mental conditions of a large …
[HTML][HTML] 伴前庭水管扩大的非综合征性听力障碍耳聋基因突变谱研究
王屹， 陈振波， 李勇， 王晶俏， 刘志忠 - 中国康复理论与实践, 2023 - cjrtponline.com
伴前庭水管扩大的非综合征性听力障碍耳聋基因突变谱研究 中国康复理论与实践 中国康复理论与
实践 微信平台 中国康复理论与实践 移动平台 中国康复理论与实践 中国科技核心期刊(中国科技 …
实践 微信平台 中国康复理论与实践 移动平台 中国康复理论与实践 中国科技核心期刊(中国科技 …