Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 59 Records) |
| Query Trace: Disease and USH2A[original query] |
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| Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation. Genes 2019 12 10 (12): . Zupan Andrej, Fakin Ana, Battelino Saba, Jarc-Vidmar Martina, Hawlina Marko, Bonnet Crystel, Petit Christine, Glava? Damj |
| Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy. Genes 2019 11 10 (12): . Fakin Ana, Šuštar Maja, Brecelj Jelka, Bonnet Crystel, Petit Christine, Zupan Andrej, Glava? Damjan, Jarc-Vidmar Martina, Battelino Saba, Hawlina Mar |
| Identifying germline APOBEC3B deletion and immune phenotype in Korean patients with operable breast cancer. Breast cancer research and treatment 2020 7 183 (3): 697-704. Kim Se Hyun, Ahn Soomin, Suh Koung Jin, Kim Yu Jung, Park So Yeon, Kang Eunyoung, Kim Eun-Kyu, Kim In Ah, Chae Sumin, Choi Murim, Kim Jee Hy |
| USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa. The British journal of ophthalmology 2020 7 105 (5): 694-703. Zhu Tian, Chen De-Fu, Wang Lei, Wu Shijing, Wei Xing, Li Hui, Jin Zi-Bing, Sui Ruifa |
| Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies. Ophthalmic surgery, lasers & imaging retina 2020 6 51 (6): 338-345. McGowan Heather, Madreperla Olivia R, Snyder Alexandra L, Fine Howard |
| Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 (4): 431-437. Molina-Ramírez Leslie P, Lenassi Eva, Ellingford Jamie M, Sergouniotis Panagiotis I, Ramsden Simon C, Bruce Iain A, Black Graeme C |
| Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genetics in medicine : official journal of the American College of Medical Genetics 2020 2 22 (6): 1079-1087. Zampaglione Erin, Kinde Benyam, Place Emily M, Navarro-Gomez Daniel, Maher Matthew, Jamshidi Farzad, Nassiri Sherwin, Mazzone J Alex, Finn Caitlin, Schlegel Dana, Comander Jason, Pierce Eric A, Bujakowska Kinga |
| Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients. International journal of molecular sciences 2020 10 21 (21): . Inaba Akira, Maeda Akiko, Yoshida Akiko, Kawai Kanako, Hirami Yasuhiko, Kurimoto Yasuo, Kosugi Shinji, Takahashi Masa |
| Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort. Genes 2021 5 12 (5): . Kim Yoon-Jeon, Kim You-Na, Yoon Young-Hee, Seo Eul-Ju, Seo Go-Hun, Keum Changwon, Lee Beom-Hee, Lee Joo-Yo |
| USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families. BMC ophthalmology 2021 4 21 (1): 191. Ahmed Asif Naveed, Tahir Raheel, Khan Niamat, Ahmad Mushtaq, Dawood Muhammad, Basit Abdul, Yasin Muhammad, Nowshid Maha, Marwan Muhammad, Sultan Komal, Saleha Sham |
| A novel age-informed approach for genetic association analysis in Alzheimer's disease. Alzheimer's research & therapy 2021 Apr 13 (1): 72. Le Guen Yann, Belloy Michael E, Napolioni Valerio, Eger Sarah J, Kennedy Gabriel, Tao Ran, He Zihuai, Greicius Michael D, |
| Clonal Architectures Predict Clinical Outcome in Gastric Adenocarcinoma Based on Genomic Variation, Tumor Evolution, and Heterogeneity. Cell transplantation 0 30 963689721989606. Ren Chenxia, Wu Cuiling, Wang Niuniu, Lian Changhong, Yang Changqi |
| Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC medical genomics 2021 3 14 (1): 74. Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G |
| USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies. Diagnostics (Basel, Switzerland) 2021 2 11 (2): . Falsini Benedetto, Placidi Giorgio, De Siena Elisa, Savastano Maria Cristina, Minnella Angelo Maria, Maceroni Martina, Midena Giulia, Ziccardi Lucia, Parisi Vincenzo, Bertelli Matteo, Maltese Paolo Enrico, Chiurazzi Pietro, Rizzo Stanisl |
| CSMD3 is Associated with Tumor Mutation Burden and Immune Infiltration in Ovarian Cancer Patients. International journal of general medicine 2021 14 7647-7657. Lu Nan, Liu Jinhui, Xu Mengting, Liang Jianqiang, Wang Yichun, Wu Zhipeng, Xing Yan, Diao Feiya |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration. Eye (London, England) 2024 8 . Wan-Chen Tsai, Yao-Lin Liu, Tzu-Hsun Tsai, Ying-Ju Lai, Chang-Hao Yang, Chung-May Yang, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Chao-Wen Lin, Tso-Ting Lai, Pei-Lung Chen, Ta-Ching Ch |
| Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank. Cell genomics 2024 6 100602. Frederik H Lassen, Samvida S Venkatesh, Nikolas Baya, Barney Hill, Wei Zhou, Alex Bloemendal, Benjamin M Neale, Benedikt M Kessler, Nicola Whiffin, Cecilia M Lindgren, Duncan S Palm |
| Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome. International journal of molecular sciences 2024 6 25 (11): . Jakub P Fichna, Mateusz Chili?ski, Anup Kumar Halder, Pawe? Ci?szczyk, Dariusz Plewczynski, Cezary ?ekanowski, Piotr Jan |
| High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. Orphanet journal of rare diseases 2024 6 19 (1): 238. Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Ch |
| Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia. Croatian medical journal 2024 6 65 (3): 198-208. Ivona Sansovi?, Ana-Maria Meaši?, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozi?, Mijana Kero, Sanda Huljev Frkovi?, Silvija Pušelj |
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