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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 11 (of 11 Records)

Query Trace: Deafness and TMPRSS3[original query]
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Journal of molecular medicine (Berlin, Germany) 2002 Feb 80 (2): 124-31.
Wattenhofer Marie, Di Iorio Mario Vincenzo, Rabionet Raquel, Dougherty Loretta, Pampanos Andreas, Schwede Torsten, Montserrat-Sentis Barbara, Arbones Maria Lourdes, Iliades Theofilos, Pasquadibisceglie Annamaria, D'Amelio Marcello, Alwan Sura, Rossier Colette, Dahl Hans-Henrik M, Petersen Michael B, Estivill Xavier, Gasparini Paolo, Scott Hamish S, Antonarakis Stylianos
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.
Clinical genetics 2015 Jun 87 (6): 588-93.
Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jul .
Bademci Guney, Foster Joseph, Mahdieh Nejat, Bonyadi Mortaza, Duman Duygu, Cengiz F Basak, Menendez Ibis, Diaz-Horta Oscar, Shirkavand Atefeh, Zeinali Sirous, Subasioglu Asli, Tokgoz-Yilmaz Suna, Huesca-Hernandez Fabiola, de la Luz Arenas-Sordo Maria, Dominguez-Aburto Juan, Hernandez-Zamora Edgar, Montenegro Paola, Paredes Rosario, Moreta Germania, Vinueza Rodrigo, Villegas Franklin, Mendoza-Benitez Santiago, Guo Shengru, Bozan Nazim, Tos Tulay, Incesulu Armagan, Sennaroglu Gonca, Blanton Susan H, Ozturkmen-Akay Hatice, Yildirim-Baylan Muzeyyen, Tekin Musta
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2015 Jun .
Battelino Saba, Klancar Gasper, Kovac Jernej, Battelino Tadej, Trebusak Podkrajsek Katari
The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.
The Annals of otology, rhinology, and laryngology 2015 May 124 Suppl 1 193S-204S.
Miyagawa Maiko, Nishio Shin-Ya, Sakurai Yuika, Hattori Mitsuru, Tsukada Keita, Moteki Hideaki, Kojima Hiromi, Usami Shin-Ic
STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2017 10 38 (10): e393-e400.
Plevova Pavlina, Paprskarova Martina, Tvrda Petra, Turska Petra, Slavkovsky Rastislav, Mrazkova E
The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
International journal of molecular sciences 2017 Oct 18 (11): .
Kim Ah Reum, Chung Juyong, Kim Nayoung K D, Lee Chung, Park Woong-Yang, Oh Doo-Yi, Choi Byung Yo
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
European journal of human genetics : EJHG 2021 Nov .
Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel
A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss.
Frontiers in pediatrics 2022 12 10 1032659.
Liang Jingwen, Yu Zhuoheng, Wang Zhangxing, Chen Jianxia, Liu Yihuan, Yin Zhaoqing, Xu Ruihu
Cochlear Implants in Deaf Patients with Novel TMPRSS3 Gene Mutation.
Alternative therapies in health and medicine 2023 4 .
Yu Rong, Wang Kai, You Liujun, Kang Junxin, Ai Honghui, Jiang Hongq
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.
Genetics and molecular biology 2024 4 47 (1): e20220335.
Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwar
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