Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 52 Records) |
Query Trace: MYO7A[original query] |
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Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients. Clinical genetics 2019 9 97 (2): 352-356. Zou Songfeng, Mei Xueshuang, Yang Weiqiang, Zhu Rvfei, Yang Tao, Hu Hong |
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. Retina (Philadelphia, Pa.) 2019 9 40 (8): 1603-1615. Khateb Samer, Mohand-Saïd Saddek, Nassisi Marco, Bonnet Crystel, Roux Anne-Françoise, Andrieu Camille, Antonio Aline, Condroyer Christel, Zeitz Christina, Devisme Céline, Loundon Natalie, Marlin Sandrine, Petit Christine, Bodaghi Bahram, Sahel José-Alain, Audo Isabel |
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 |
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 |
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan. Scientific reports 2020 7 10 (1): 11902. Ramzan Memoona, Bashir Rasheeda, Salman Midhat, Mujtaba Ghulam, Sobreira Nara, Witmer P Dane, , Naz Sad |
The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss. ORL; journal for oto-rhino-laryngology and its related specialties 2020 5 82 (4): 181-187. Lu Jiawen, Chen Penghui, Chen Tuanjie, Li Lin, Fu Xiaoli, Yang Tao, Wu H |
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clinical genetics 2020 4 98 (1): 32-42. Budde Birgit S, Aly Maha Abdelgaber, Mohamed Mostafa R, Breß Andreas, Altmüller Janine, Motameny Susanne, Kawalia Amit, Thiele Holger, Konrad Kathryn, Becker Christian, Toliat Mohammad R, Nürnberg Gudrun, Sayed Eman Abdel Fattah, Mohamed Enass Sayed, Pfister Markus, Nürnberg Pet |
Genetic testing has the potential to impact hearing preservation following cochlear implantation. Acta oto-laryngologica 2020 3 140 (6): 438-444. Yoshimura Hidekane, Moteki Hideaki, Nishio Shin-Ya, Miyajima Hiroki, Miyagawa Maiko, Usami Shin-Ic |
Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss. Fetal and pediatric pathology 2020 1 40 (2): 121-130. Farjami Mahsa, Fathi Mozhgan, Ghasemi Mohammad Mehdi, Rajati Mohsen, Eslahi Atieh, Alimardani Malihe, Mojarrad Maj |
Single gene variants causing deafness in Asian Indians. Journal of genetics 2021 7 100 . Panigrahi Inusha, Kumari Divya, Anil Kumar B |
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China. Frontiers in genetics 2021 12 637096. Cai Luhang, Liu Ya, Xu Yaping, Yang Hang, Lv Lihui, Li Yang, Chen Qiongqiong, Lin Xiaojiang, Yang Yihui, Hu Guangwei, Zheng Guofeng, Zhou Jing, Qian Qiyong, Xu Mei-Ai, Fang Jin, Ding Jianjun, Chen Wei, Gao Jio |
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population. Journal of advanced research 2021 7 31 13-24. Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Sab |
Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families. Neural plasticity 2021 5 2021 5528434. Mei Xueshuang, Zhou Yaqi, Amjad Muhammad, Yang Weiqiang, Zhu Rufei, Asif Muhammad, Hussain Hafiz Muhammad Jafar, Yang Tao, Iqbal Furhan, Hu Hong |
Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations. Genes 2021 3 12 (2): . Kabahuma Rosemary Ida, Schubert Wolf-Dieter, Labuschagne Christiaan, Yan Denise, Blanton Susan Halloran, Pepper Michael Sean, Liu Xue Zho |
Targeted next-generation sequencing of deaf patients from Southwestern China. Molecular genetics & genomic medicine 2021 Mar e1660. Li Yunlong, Su Jie, Zhang Jingman, Pei Jiahong, Li Dongmei, Zhang Yinhong, Li Jingyu, Chen Menglang, Zhu Baoshe |
Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2021 3 73 (10): 1860-1870. Jamieson Sarra E, Fakiola Michaela, Tang Dave, Scaman Elizabeth, Syn Genevieve, Francis Richard W, Coates Harvey L, Anderson Denise, Lassmann Timo, Cordell Heather J, Blackwell Jenefer |
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 |
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A. International journal of molecular sciences 2021 12 22 (24): . Mansard Luke, Baux David, Vaché Christel, Blanchet Catherine, Meunier Isabelle, Willems Marjolaine, Faugère Valérie, Baudoin Corinne, Moclyn Melody, Bianchi Julie, Dollfus Helene, Gilbert-Dussardier Brigitte, Dupin-Deguine Delphine, Bonneau Dominique, Drumare Isabelle, Odent Sylvie, Zanlonghi Xavier, Claustres Mireille, Koenig Michel, Kalatzis Vasiliki, Roux Anne-Françoi |
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 |
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 |
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation. International journal of pediatric otorhinolaryngology 2022 7 159 111218. Elander Johanna, Ullmark Tove, Ehrencrona Hans, Jonson Tord, Piccinelli Paul, Samuelsson Sofie, Löwgren Karolina, Falkenius-Schmidt Karolina, Ehinger Johannes, Stenfeldt Karin, Värendh Mar |
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 |
Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients. Molecular genetics & genomic medicine 2022 2 10 (4): e1887. Liu Min, Liang Yue, Huang Bixue, Sun Jincangjian, Chen Kaiti |
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. Scientific reports 2022 12 12 (1): 20815. Karali Marianthi, Testa Francesco, Di Iorio Valentina, Torella Annalaura, Zeuli Roberta, Scarpato Margherita, Romano Francesca, Onore Maria Elena, Pizzo Mariateresa, Melillo Paolo, Brunetti-Pierri Raffaella, Passerini Ilaria, Pelo Elisabetta, Cremers Frans P M, Esposito Gabriella, Nigro Vincenzo, Simonelli Francesca, Banfi Sand |
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PloS one 2022 1 17 (1): e0262419. Fidalgo Felipe, Torrezan Giovana Tardin, Sá Bianca Costa Soares de, Barros Bruna Durães de Figueiredo, Moredo Luciana Facure, Valieris Renan, de Souza Sandro J, Duprat João Pereira, Krepischi Ana Cristina Victorino, Carraro Dirce Mar |
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 2023 1 17 (1): 1. Ma Jing, Ma Xiuli, Lin Ken, Huang Rui, Bi Xianyun, Ming Cheng, Li Li, Li Xia, Li Guo, Zhao Liping, Yang Tao, Gao Yingqin, Zhang Tieso |
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- Page last updated:Mar 25, 2024
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