HuGE Literature Finder
Records 1-11
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Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.
Molecular genetics & genomic medicine 2020 Oct e1539. Xiang Yan-Bao, Xu Chen-Yang, Xu Yun-Zhi, Li Huan-Zheng, Zhou Li-Li, Xu Xue-Qin, Chen Zi-Hui, Tang Shao-H |
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Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
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Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family.
Iranian journal of basic medical sciences 2016 Jul 19 (7): 772-8. Reiisi Somayeh, Tabatabaiefar Mohammad Amin, Sanati Mohammad Hosein, Chaleshtori Morteza Hashemzad |
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Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.
The application of clinical genetics 2016 9 141-6. Fedick Anastasia M, Jalas Chaim, Swaroop Ananya, Smouha Eric E, Webb Bryn |
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Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
PloS one 2016 11 (4): e0153841. ?hurbanov Alexander Y, Karafet Tatiana M, Morozov Igor V, Mikhalskaia Valeriia Yu, Zytsar Marina V, Bondar Alexander A, Posukh Olga |
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Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
The Annals of otology, rhinology, and laryngology 2015 May 124 Suppl 1 49S-60S. Nishio Shin-Ya, Usami Shin-Ic |
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Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.
BMC medical genetics 2015 16 (1): 85. Svidnicki Maria Carolina Costa Melo, Silva-Costa Sueli Matilde, Ramos Priscila Zonzini, Dos Santos Nathalia Zocal Pereira, Martins Fábio Tadeu Arrojo, Castilho Arthur Menino, Sartorato Edi Lúc |
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OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
BMC medical genetics 2013 Sep 14 (1): 1. Iwasa YI, Nishio SY, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami SI |
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Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform.
BMC medical genetics 2013 14 (1): 112. Martins Fábio Tadeu Arrojo, Ramos Priscila Zonzini, Svidnicki Maria Carolina Costa Melo, Castilho Arthur Menino, Sartorato Edi Lúc |
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GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.
Audiology & neuro-otology 2010 15 (3): 194-202. Dalamón Viviana, Lotersztein Vanesa, Béhèran Agustina, Lipovsek Marcela, Diamante Fernando, Pallares Norma, Francipane Liliana, Frechtel Gustavo, Paoli Bibiana, Mansilla Enrique, Diamante Vicente, Elgoyhen Ana Bel |
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Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.
Audiology & neuro-otology 2010 15 (6): 364-74. Chiu Yu-Hsun, Wu Chen-Chi, Lu Ying-Chang, Chen Pei-Jer, Lee Wen-Yuan, Liu Alyssa Yan-Zhen, Hsu Chuan-J |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jan 19, 2021
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