Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: 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 analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. Gene 2013 Dec 532 (2): 276-80. Lee Jinwook, Baek Jeong-In, Choi Jae Young, Kim Un-Kyung, Lee Sang-Heun, Lee Kyu-Y |
Type II transmembrane serine protease gene variants associate with breast cancer. PloS one 2014 9 (7): e102519. Luostari Kaisa, Hartikainen Jaana M, Tengström Maria, Palvimo Jorma J, Kataja Vesa, Mannermaa Arto, Kosma Veli-Mat |
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 |
Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation. Ear and hearing 2019 5 41 (1): 114-124. Song Mee Hyun, Jung Jinsei, Rim John Hoon, Choi Hye Ji, Lee Hack June, Noh Byunghwa, Lee Jun Suk, Gee Heon Yung, Choi Jae You |
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss. Molecular genetics & genomic medicine 2019 4 7 (6): e685. Li Xinlei, Tan Bo, Wang Xiaoqian, Xu Xiaofei, Wang Cuicui, Zhong Mingjun, Zhao Qiuling, Bao Zhongwei, Peng Weihua, Zhang Lei, Cheng Jing, Lu Yu, Wu Peina, Yuan Huij |
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 |
Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss. Scientific reports 2021 11 11 (1): 22488. Pavlenkova Zuzana, Varga Lukas, Borecka Silvia, Karhanek Miloslav, Huckova Miloslava, Skopkova Martina, Profant Milan, Gasperikova Danie |
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Communications biology 2022 06 5 (1): 540. Praveen Kavita, Dobbyn Lee, Gurski Lauren, Ayer Ariane H, Staples Jeffrey, Mishra Shawn, Bai Yu, Kaufman Alexandra, Moscati Arden, Benner Christian, Chen Esteban, Chen Siying, Popov Alexander, Smith Janell, , , , Melander Olle, Jones Marcus B, Marchini Jonathan, Balasubramanian Suganthi, Zambrowicz Brian, Drummond Meghan C, Baras Aris, Abecasis Goncalo R, Ferreira Manuel A, Stahl Eli A, Coppola Giovan |
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 |
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. JAMA otolaryngology-- head & neck surgery 2023 1 149 (3): 212-222. Carlson Ryan J, Walsh Tom, Mandell Jessica B, Aburayyan Amal, Lee Ming K, Gulsuner Suleyman, Horn David L, Ou Henry C, Sie Kathleen C Y, Mancl Lisa, Rubinstein Jay, King Mary-Clai |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: