Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Disease and MYO7A[original query] |
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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 |
| 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 |
| 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 |
| 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 |
| CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING. Retina (Philadelphia, Pa.) 2016 Oct . Hafler Brian |
| 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 |
| The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. Investigative ophthalmology & visual science 2018 3 59 (2): 1095-1104. Khalaileh Ayat, Abu-Diab Alaa, Ben-Yosef Tamar, Raas-Rothschild Annick, Lerer Israela, Alswaiti Yahya, Chowers Itay, Banin Eyal, Sharon Dror, Khateb Sam |
| Genetic Screening of the Usher Syndrome in Cuba. Frontiers in genetics 2019 6 10 501. Santana Elayne E, Fuster-García Carla, Aller Elena, Jaijo Teresa, García-Bohórquez Belén, García-García Gema, Millán José M, Lantigua Arace |
| Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. International journal of pediatric otorhinolaryngology 2019 3 120 166-172. Li Yunlong, Su Jie, Ding Chao, Yu Fangqing, Zhu Baoshe |
| Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials. Acta ophthalmologica 2021 2 99 (8): 922-930. Galbis-Martínez Lilián, Blanco-Kelly Fiona, García-García Gema, Ávila-Fernández Almudena, Jaijo Teresa, Fuster-García Carla, Perea-Romero Irene, Zurita-Muñoz Olga, Jimenez-Rolando Belén, Carreño Ester, García-Sandoval Blanca, Millán José M, Ayuso Carm |
| 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 |
| Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. Frontiers in endocrinology 2021 1 11 582516. Li Lele, Gao Fenqi, Fan Lijun, Su Chang, Liang Xuejun, Gong ChunX |
| Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes 2022 8 13 (8): . Feenstra Helena M, Al-Khuzaei Saoud, Shah Mital, Broadgate Suzanne, Shanks Morag, Kamath Archith, Yu Jing, Jolly Jasleen K, MacLaren Robert E, Clouston Penny, Halford Stephanie, Downes Susan |
| Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains. Biomedicines 2022 4 10 (4): . Joo Sun Young, Na Gina, Kim Jung Ah, Yoo Jee Eun, Kim Da Hye, Kim Se Jin, Jang Seung Hyun, Yu Seyoung, Kim Hye-Youn, Choi Jae Young, Gee Heon Yung, Jung Jins |
| On the association between Chiari malformation type 1, bone mineral density and bone related genes. Bone reports 2022 3 16 101181. Martínez-Gil Núria, Mellibovsky Leonardo, Manzano-López González Demián, Patiño Juan David, Cozar Monica, Rabionet Raquel, Grinberg Daniel, Balcells Susan |
| Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China. Heliyon 2024 12 10 (20): e38802. Jingyu Li, Shiyu Zhou, Jiahong Pei, Wanzhen Li, Rongjie Cui, Xiaofei Ren, Jingru Wei, Qian Li, Baosheng Zhu, Yaliang Sa, Yunlong |
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