Results 111 to 120 of about 675 (134)

The Prevalence and Clinical Characteristics of <i>MYO3A</i>-Associated Hearing Loss in 15,684 Hearing Loss Patients. [PDF]

Genes (Basel)
Maekawa K, Nishio SY, Miyazaki H, Ohta Y, Oishi N, Kasai M, Yamamoto A, Okami M, Wasano K, Sakai A, Usami SI.   +10 more
europepmc   +1 more source

Connexin 26 in Hearing Health and Disease: StructuralFoundations, Mutation Mechanisms, and Therapeutic Perspectives. [PDF]

Int J Mol Sci
Qiu W, Schneider K, Guo Y.
europepmc   +1 more source

Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma. [PDF]

Cureus
Hashimoto K, Miwa T, Ono C, Nara K, Mutai H, Seto T, Sakamoto H, Matsunaga T.   +7 more
europepmc   +1 more source

Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss. [PDF]

Front Genet
Hou Y, Shi Y, Liu L, Duan S.
europepmc   +1 more source

Enlarged Vestibular Aqueduct: Audiological and Vestibular Profiles in Siblings with Genetic Mutations. [PDF]

Indian J Otolaryngol Head Neck Surg
Bhogade M, Dutta KK, Lodha V, Neupane AK.   +3 more
europepmc   +1 more source

A novel TECTA mutation causes ARNSHL [PDF]

International Journal of Pediatric Otorhinolaryngology, 2017
Objective Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect ...
Mohammad Hossein Ghahremani, Somayeh Reiisi, Somayeh Khatami   +2 more
exaly   +3 more sources

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants [PDF]

International Journal of Pediatric Otorhinolaryngology, 2018
OBJECTIVE: Hereditary hearing loss (HL) is a noticeable concern in medicine all over the world. On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a major public health issue.
Somayeh Reiisi, Mahboobeh Koohiyan, Morteza Hashemzadeh-Chaleshtori   +2 more
exaly   +4 more sources

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations [PDF]

Hearing Research, 2005
Contains fulltext : 47829.pdf (Publisher’s version ) (Open Access)Mutations in the connexin 26 gene (GJB2) cause a significant proportion of prelingual non-syndromic autosomal recessive deafness in all populations studied so far.
Hannie Kremer, Ersan Kalay, Arjan de Brouwer   +2 more
exaly   +2 more sources

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next‐generation sequencing

Journal of Clinical Laboratory Analysis, 2020
In the present study, nine unrelated Iranian consanguineous families with at least one affected individual were tested by next‐generation sequencing (NGS) of 127 known deafness genes. In this report, one compound heterozygote and eight homozygote variants, of which five are novel, were identified: CDH23:p.(Glu1970Lys), and p.(Ala1072Asp), GIPC3:p ...
Fatemeh Bitarafan, Masoud Garshasbi
exaly   +2 more sources

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ARNSHL gene identification: past, present and future

Molecular Genetics and Genomics, 2022
Ayesha Imtiaz
exaly