[HTML][HTML] Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia
Abstract Background Hearing Impairment (HI) can have genetic or environmental causes
and in some cases, an interplay of both. Genetic causes are difficult to determine as …
and in some cases, an interplay of both. Genetic causes are difficult to determine as …
[HTML][HTML] Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss
A Al Mutery, WKE Mohamed, M Mahfood… - Saudi Journal of …, 2023 - Elsevier
Hearing loss (HL) is the most prevalent sensory disorder whose etiology comes from
environmental and/or genetic factors. Approximately 60% of HL cases are due to mutations …
environmental and/or genetic factors. Approximately 60% of HL cases are due to mutations …
Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family
F Lin, D Li, P Wang, D Fan, J De, W Zhu - International Journal of Pediatric …, 2014 - Elsevier
Objectives Hearing loss is the most common sensory disorder worldwide. Biallelic mutations
in 42 different genes have been identified as associated with autosomal recessive non …
in 42 different genes have been identified as associated with autosomal recessive non …
[HTML][HTML] Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India
PK Singh, M Ghosh, S Sharma, S Shastri… - Indian Journal of …, 2017 - journals.lww.com
Methods: Forty seven families including 26 consanguineous families with at least two
hearing impaired children and one normal hearing child and 21 non-consanguineous …
hearing impaired children and one normal hearing child and 21 non-consanguineous …
CIB2 as a Ca2+ Sensor for Auditory Mechano-Electrical Transduction and Linked to Genetic-Heterogeneity of TMC1 in Hearing Loss
S Wu, L Lin, Q Hu, X Yao, H Wang, S Liu, Q Liu, L Lu… - bioRxiv, 2024 - biorxiv.org
Non-syndromic sensorineural hearing loss is characterized by genetic heterogeneity,
leading to potential clinical misdiagnosis. TMC1, a unique causative gene associated with …
leading to potential clinical misdiagnosis. TMC1, a unique causative gene associated with …
Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss
C Vaché, D Baux, J Bianchi, C Baudoin… - European Journal of …, 2022 - nature.com
Alterations of the transmembrane channel-like 1 gene (TMC1) are involved in autosomal
recessive and dominant nonsyndromic hearing loss (NSHL). To date, up to 117 causal …
recessive and dominant nonsyndromic hearing loss (NSHL). To date, up to 117 causal …
The Common TMC1 Mutation c.100C>T (p.Arg34X) Is Not a Significant Cause of Deafness in British Asians
C Searle, LA Mavrogiannis, CP Bennett… - Genetic Testing and …, 2012 - liebertpub.com
TMC1, a second-tier deafness gene below GJB2, is an appreciable cause of recessive
nonsyndromic hearing loss (DFNB7/11) in North Africa, the Middle East, and parts of South …
nonsyndromic hearing loss (DFNB7/11) in North Africa, the Middle East, and parts of South …
[HTML][HTML] A Short Overview on Hearing Loss and Related Auditory Defects
H Khan, H Idrees, Z Munir… - Auditory System-Function …, 2022 - intechopen.com
Hearing is the ability of a person to recognize sound in the surroundings and it makes
communication possible. Ear is the human organ serving as a transducer that perceives …
communication possible. Ear is the human organ serving as a transducer that perceives …
[PDF][PDF] OTOZOMAL RESESİF İŞİTME KAYIPLI AİLELERDE OTOZİGOZİTE TARAMASI İLE MYO7A MUTASYONLARININ GÖSTERİLMESİ
DoğuĢtan veya dil geliĢimi öncesi geliĢen iĢitme kaybı yaklaĢık 1000 doğumda bir
görülmektedir. Bu olguların yarısına yakın bir bölümünde genetik faktörlerin etkili olduğu …
görülmektedir. Bu olguların yarısına yakın bir bölümünde genetik faktörlerin etkili olduğu …