Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Syndrome and CDH23[original query] |
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| Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies. Molecular vision 2005 11 (): 929-33. Bolz Hanno, Ebermann Inga, Gal Andre |
| 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 |
| 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 |
| High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. Orphanet journal of rare diseases 2015 10 (1): 60. Mizutari Kunio, Mutai Hideki, Namba Kazunori, Miyanaga Yuko, Nakano Atsuko, Arimoto Yukiko, Masuda Sawako, Morimoto Noriko, Sakamoto Hirokazu, Kaga Kimitaka, Matsunaga Tats |
Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin.
Human molecular genetics 2018 Feb 27 (3): 546-558. Tönjes Anke, Scholz Markus, Krüger Jacqueline, Krause Kerstin, Schleinitz Dorit, Kirsten Holger, Gebhardt Claudia, Marzi Carola, Grallert Harald, Ladenvall Claes, Heyne Henrike, Laurila Esa, Kriebel Jennifer, Meisinger Christa, Rathmann Wolfgang, Gieger Christian, Groop Leif, Prokopenko Inga, Isomaa Bo, Beutner Frank, Kratzsch Jürgen, Fischer-Rosinsky Antje, Pfeiffer Andreas, Krohn Knut, Spranger Joachim, Thiery Joachim, Blüher Matthias, Stumvoll Michael, Kovacs Pet |
| 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 |
| 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 |
| 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 |
| Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients. Annals of hematology 2021 Jan . Janusz Kamila, Izquierdo Marta Martín, Cadenas Félix López, Ramos Fernando, Sánchez Jesús María Hernández, Lumbreras Eva, Robledo Cristina, Del Real Javier Sánchez, Caballero Juan Carlos, Collado Rosa, Bernal Teresa, Pedro Carme, Insunza Andrés, de Paz Raquel, Xicoy Blanca, Salido Eduardo, García Joaquín Sánchez, Mínguez Sandra Santos, García Cristina Miguel, Muñoz Ana María Simón, Barba Mercedes Sánchez, Rivas Jesús María Hernández, Abáigar María, Campelo María Dí |
| 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 |
| 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 |
| Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study. Cytogenetic and genome research 2022 5 162 (1-2): 1-9. Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pin |
| Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
| Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. Human genetics 2022 1 141 (3-4): 903-914. Usami Shin-Ichi, Isaka Yuichi, Miyagawa Maiko, Nishio Shin- |
| Germline Variants in Sporadic Pituitary Adenomas. Journal of the Endocrine Society 2024 5 8 (6): bvae085. Ali S Alzahrani, Abdulghani Bin Nafisah, Meshael Alswailem, Balgees Alghamdi, Burair Alsaihati, Hussain Aljafar, Batoul Baz, Hindi Alhindi, Yosra Moria, Muhammad Imran Butt, Abdulrahman Ghiatheddin Alkabbani, Omalkhaire M Alshaikh, Anhar Alnassar, Ahmed Bin Afeef, Reem AlQuraa, Rawan Alsuhaibani, Omar Alhadlaq, Fayha Abothenain, Yasser A Altwaij |
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