Results 131 to 140 of about 1,391 (157)

Gene-Polymorphism in Non - Syndromic Hearing Loss: A Systematic Review. [PDF]

Indian J Otolaryngol Head Neck Surg
Balunathan N, Nair SS, Kumar SR.
europepmc   +1 more source

A novel pathogenic mutation in TSPEAR associated with sensorineural hearing loss: a case report and review of the literature. [PDF]

J Med Case Rep
Ahmadkhani A, Taherifard E, Zoghi S, Jafari Khamirani H, Ahmadkhani M, Dastgheib SA.   +5 more
europepmc   +1 more source

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients. [PDF]

J Transl Med
Boujemaa M, Hamdi Y, Guidara S, Souissi A, Bouaziz H, Mejri N, Aloulou S, Mahjoub N, Chaabane K, Hakim H, Boussen H, Dhiab TB, Kamoun S, Ayadi R, Driss M, Ayadi A, Radouani F, Fakhkhari M, Khyatti M, Abdelhak S, Sadki K, Boubaker MS, Rebai A, Cherif B.   +23 more
europepmc   +1 more source

Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders. [PDF]

Int J Mol Sci
Buianova AA, Bazanova MV, Belova VA, Ilyina GA, Samitova AF, Shmitko AO, Balakina AV, Pavlova AS, Suchalko ON, Korostin DO, Machalov AS, Daikhes NA, Rebrikov DV.   +12 more
europepmc   +1 more source

A novel method for detecting nine hotspot mutations of deafness genes in one tube. [PDF]

Sci Rep
Yu Y, Zhang J, Zhan Y, Luo G.
europepmc   +1 more source

Gene editing of the GJB2 locus in porcine embryos using CRISPR/Cas9 and cytosine base editors: toward a model of congenital deafness. [PDF]

Sci Rep
Piñeiro-Silva C, Bermejo-Álvarez P, García-Purriños FJ, Gadea J.   +3 more
europepmc   +1 more source

[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Ruan Y, Cheng X, Zhang W, Zhao L, Xie J, Wen C, Li Y, Deng L, Huang L.   +8 more
europepmc   +1 more source

High carrier frequency of the GJB2 mutation (35delG) in the north of Iran [PDF]

International Journal of Pediatric Otorhinolaryngology, 2007
Objective: Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic non-syndromic hearing loss in many populations. A single mutation of this gene (35delG) accounts for approximately 70% of mutations in Caucasians with a carrier ...
Soleiman Kheiri, Keihan Ghatreh Samani, Effat Farrokhi   +2 more
exaly   +2 more sources

Statistical study of 35delG mutation of GJB2 gene: A meta-analysis of carrier frequency

International Journal of Audiology, 2009
GJB2 mutations are major causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. However, a few mutations have an ethnic-specific background.
Nejat Mahdieh, Bahareh Rabbani
exaly   +2 more sources