Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 116 Records) |
Query Trace: USH2A[original query] |
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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 |
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome. Frontiers in genetics 2022 9 13 900548. Li Wei, Jiang Xiao-Sen, Han Dong-Ming, Gao Jia-Yu, Yang Zheng-Tao, Jiang Li, Zhang Qian, Zhang Sheng-Hai, Gao Ya, Wu Ji-Hong, Li Jian-Ka |
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy. Frontiers in aging neuroscience 2022 8 14 948279. Su Bing-Nan, Shen Ren-Juan, Liu Zhuo-Lin, Li Yang, Jin Zi-Bi |
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 |
A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series. Cureus 2022 8 14 (8): e28213. Santos David F, Molina Thurin Leonardo J, Gustavo Vargas José, Izquierdo Natalio J, Oliver Arman |
Dysregulated Immune and Metabolic Microenvironment Is Associated with the Post-Operative Relapse in Stage I Non-Small Cell Lung Cancer. Cancers 2022 7 14 (13): . Zhang Shirong, Xiao Xiao, Zhu Xiuli, Chen Xueqin, Zhang Xiaochen, Xiang Jingjing, Xu Rujun, Shao Zhuo, Bai Jing, Xun Yanping, Jiang Yanping, Chen Zhengzheng, Xia Xuefeng, Jiang Hong, Ma Shengl |
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Frontiers in genetics 2022 7 13 914345. Maltese Paolo Enrico, Colombo Leonardo, Martella Salvatore, Rossetti Luca, El Shamieh Said, Sinibaldi Lorenzo, Passarelli Chiara, Coppè Andrea Maria, Buzzonetti Luca, Falsini Benedetto, Chiurazzi Pietro, Placidi Giorgio, Tanzi Benedetta, Bertelli Matteo, Iarossi Giancar |
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Frontiers in genetics 2022 6 13 864228. Jaffal Lama, Akhdar Hanane, Joumaa Hawraa, Ibrahim Mariam, Chhouri Zahraa, Assi Alexandre, Helou Charles, Lee Hane, Seo Go Hun, Joumaa Wissam H, El Shamieh Sa |
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report. BMC ophthalmology 2022 3 22 (1): 140. Young Su Ling, Stanton Chloe M, Livesey Benjamin J, Marsh Joseph A, Cackett Peter |
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Human mutation 2022 3 43 (5): 613-624. Hufnagel Robert B, Liang Wendi, Duncan Jacque L, Brewer Carmen C, Audo Isabelle, Ayala Allison R, Branham Kari, Cheetham Janet K, Daiger Stephen P, Durham Todd A, Guan Bin, Heon Elise, Hoyng Carel B, Iannaccone Alessandro, Kay Christine N, Michaelides Michel, Pennesi Mark E, Singh Mandeep S, Ullah Ehsan, |
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 characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients. Gene 2022 12 853 147087. Jin Bingyu, Li Jing, Yang Qiaodan, Tang Xinyu, Wang Chen, Zhao Yue, Zheng Fang, Zhang Yuanzhen, Ma Jianhong, Yan Mi |
Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss. Journal of personalized medicine 2022 12 12 (11): . Markova Tatiana, Alekseeva Natalia, Lalayants Maria, Ryzhkova Oxana, Shatokhina Olga, Galeeva Nailya, Bliznetz Elena, Belov Oleg, Chibisova Svetlana, Polyakov Alexander, Tavartkiladze Geor |
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International journal of molecular sciences 2022 12 23 (24): . Shatokhina Olga, Galeeva Nailya, Stepanova Anna, Markova Tatiana, Lalayants Maria, Alekseeva Natalia, Tavarkiladze George, Markova Tatiana, Bessonova Liudmila, Petukhova Marina, Guseva Daria, Anisimova Inga, Polyakov Alexander, Ryzhkova Oxana, Bliznetz Ele |
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 |
Tumour genotypes account for survival differences in right- and left-sided colon cancers. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2022 Jan . Ward Thomas M, Cauley Christy E, Stafford Caitlin E, Goldstone Robert N, Bordeianou Liliana G, Kunitake Hiroko, Berger David L, Ricciardi Roc |
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa. Investigative ophthalmology & visual science 2023 8 64 (11): 18. Carina Kelbsch, Melanie Kempf, Ronja Jung, Friederike Kortüm, Milda Reith, Laura Kuehlewein, Susanne Kohl, Torsten Strasser, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Krunoslav Stingl, Katarina Stin |
Whole-Exome Sequencing for Identification of Potential Sex-Biased Variants in Kawasaki Disease Patients. Inflammation 2023 7 . Yufen Xu, Di Che, Xiaoyu Zuo, Lanyan Fu, Lei Pi, Huazhong Zhou, Yaqian Tan, Kejian Wang, Xiaoqiong |
Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank. medRxiv : the preprint server for health sciences 2023 7 . Frederik H Lassen, Samvida S Venkatesh, Nikolas Baya, Wei Zhou, Alex Bloemendal, Benjamin M Neale, Benedikt M Kessler, Nicola Whiffin, Cecilia M Lindgren, Duncan S Palm |
USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients. Molecular vision 2023 6 29 31-38. Vianey Ordoñez-Labastida, Oscar F Chacon-Camacho, Victor R Lopez-Rodriguez, Juan C Zente |
Identification of Somatic Mutations in Plasma Cell-Free DNA from Patients with Metastatic Oral Squamous Cell Carcinoma. International journal of molecular sciences 2023 6 24 (12): . Li-Han Lin, Kuo-Wei Chang, Hui-Wen Cheng, Chung-Ji L |
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker. JCI insight 2023 6 . Jason Comander, Carol Weigel DiFranco, Kit Green Sanderson, Emily M Place, Matthew Maher, Erin Zampaglione, Yan Zhao, Rachel M Huckfeldt, Kinga M Bujakowska, Eric A Pier |
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. NPJ genomic medicine 2023 5 8 (1): 8. Patricio G Schlottmann, José D Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Vare |
Preimplantation genetic testing for hereditary hearing loss in Chinese population. Journal of assisted reproduction and genetics 2023 4 . Bi Qingling, Huang Shasha, Wang Hui, Gao Xue, Ma Minyue, Han Mingyu, Lu Sijia, Kang Dongyang, Nourbakhsh Aida, Yan Denise, Blanton Susan, Liu Xuezhong, Yuan Yongyi, Yao Yuanqing, Dai |
USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer. Journal of Zhejiang University. Science. B 2023 2 24 (2): 143-156. Yang Dexin, Feng Yuqin, Lu Haohua, Chen Kelie, Xu Jinming, Li Peiwei, Wang Tianru, Xia Dajing, Wu Yih |
The clinical features and prognostic implications of PTPN11 mutation in adult patients with acute myeloid leukemia in China. Cancer medicine 2023 11 . Jinjun Yang, Lei Zhao, Yu Wu, Ting Niu, Yuping Gong, Xinchuan Chen, Xiaoou Huang, Jiazhuo Liu, Yang Dai, Hongbing |
Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients. Scientific reports 2023 11 13 (1): 20239. Dong Woo Nam, Yong Keun Song, Jeong Hun Kim, Eun Kyoung Lee, Kyu Hyung Park, JuHyuen Cha, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Dong Hyun Jo, Sang-Yeon L |
Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 11 . Richul Oh, Se Joon Woo, Kwangsic J |
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 |
Genetic diagnosis of childhood sensorineural hearing loss. Acta otorrinolaringologica espanola 2024 1 . Sara Reda Del Barrio, Alfredo García Fernández, Juan Francisco Quesada-Espinosa, María Teresa Sánchez-Calvín, Irene Gómez-Manjón, Olalla Sierra-Tomillo, Alexandra Juárez-Rufián, Joaquín de Vergas Gutiérr |
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- Page last updated:Mar 25, 2024
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