HuGE Literature Finder
Records 1-18
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Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.
Scientific reports 2019 Feb 9 (1): 1604. Han Jae Joon, Nguyen Pham Dinh, Oh Doo-Yi, Han Jin Hee, Kim Ah-Reum, Kim Min Young, Park Hye-Rim, Tran Lam Huyen, Dung Nguyen Huu, Koo Ja-Won, Lee Jun Ho, Oh Seung Ha, Anh Vu Hoang, Choi Byung Yo |
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Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
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Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia.
Oncotarget 2017 Sep 8 (38): 63324-63332. Wang Pu, Fan Xinmiao, Wang Yibei, Fan Yue, Liu Yaping, Zhang Shuyang, Chen Xiaow |
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Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia.
Oncotarget 2017 Jun . Wang Pu, Fan Xinmiao, Wang Yibei, Fan Yue, Liu Yaping, Zhang Shuyang, Chen Xiaow |
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CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.
Retina (Philadelphia, Pa.) 2016 Oct . Hafler Brian |
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A novel homozygous MYO7A mutation involved in a Venezuelan population with high frequency of USHER1B.
Ophthalmic genetics 2016 Feb 1-3. Guzmán Horbelys O, Palacios Aura M, De Almada María I, Utrera René |
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A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora.
Investigative ophthalmology & visual science 2015 Oct 56 (11): 6671-8. Roberts Lisa, George Siddiqah, Greenberg Jacquie, Ramesar Raj |
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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 |
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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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Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
PloS one 2015 10 (11): e0142154. Atik Tahir, Onay Huseyin, Aykut Ayca, Bademci Guney, Kirazli Tayfun, Tekin Mustafa, Ozkinay Fer |
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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
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Admixture mapping identifies a locus at 15q21.2-22.3 associated with keloid formation in African Americans.
Human genetics 2014 Dec 133 (12): 1513-23. Velez Edwards Digna R, Tsosie Krystal S, Williams Scott M, Edwards Todd L, Russell Shirley |
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
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Pilot candidate gene analysis of patients ? 60 years old with aortic stenosis involving a tricuspid aortic valve.
The American journal of cardiology 2012 Jul 110 (1): 88-92. Ellis Stephen G, Dushman-Ellis Sandra, Luke May M, Murugesan Gurunathan, Kottke-Marchant Kandice, Ellis Gary M, Griffin Brian, Tuzcu E Murat, Hazen Stanl |
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Novel mutations in the USH1C gene in Usher syndrome patients.
Molecular vision 2010 16 2948-54. Aparisi María José, García-García Gema, Jaijo Teresa, Rodrigo Regina, Graziano Claudio, Seri Marco, Simsek Tulay, Simsek Enver, Bernal Sara, Baiget Montserrat, Pérez-Garrigues Herminio, Aller Elena, Millán José Mar |
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Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan.
International journal of pediatric otorhinolaryngology 2009 Mar . Su MC, Yang JJ, Su CC, Hsin CH, Li SY |
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Pigmentation-related genes and their implication in malignant melanoma susceptibility.
Experimental dermatology 2009 Mar . Fernandez LP, Milne RL, Pita G, Floristan U, Sendagorta E, Feito M, Avilés JA, Martin-Gonzalez M, Lázaro P, Benítez J, Ribas G |
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Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Human genetics 2005 Mar 116 (4): 292-9. Ouyang Xiao Mei, Yan Denise, Du Li Lin, Hejtmancik J Fielding, Jacobson Samuel G, Nance Walter E, Li An Ren, Angeli Simon, Kaiser Muriel, Newton Valerie, Brown Steve D M, Balkany Thomas, Liu Xue Zho |
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- Page last updated:Jan 19, 2021
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