Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: FKTN[original query] |
---|
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 2009 Jan 73 (1): 158-61. Arimura Takuro, Hayashi Yukiko K, Murakami Terumi, Oya Yasushi, Funabe Sayaka, Arikawa-Hirasawa Eri, Hattori Nobutaka, Nishino Ichizo, Kimura Akino |
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
Nature genetics 2009 Jun 41 (6): 648-50. Perry John R B, Stolk Lisette, Franceschini Nora, Lunetta Kathryn L, Zhai Guangju, McArdle Patrick F, Smith Albert V, Aspelund Thor, Bandinelli Stefania, Boerwinkle Eric, Cherkas Lynn, Eiriksdottir Gudny, Estrada Karol, Ferrucci Luigi, Folsom Aaron R, Garcia Melissa, Gudnason Vilmundur, Hofman Albert, Karasik David, Kiel Douglas P, Launer Lenore J, van Meurs Joyce, Nalls Michael A, Rivadeneira Fernando, Shuldiner Alan R, Singleton Andrew, Soranzo Nicole, Tanaka Toshiko, Visser Jenny A, Weedon Michael N, Wilson Scott G, Zhuang Vivian, Streeten Elizabeth A, Harris Tamara B, Murray Anna, Spector Tim D, Demerath Ellen W, Uitterlinden André G, Murabito Joanne |
Illness-associated muscle weakness in dystroglycanopathies. Neurology 2017 11 89 (23): 2374-2380. Carlson Courtney R, McGaughey Steven D, Eskuri Jamie M, Stephan Carrie M, Zimmerman M Bridget, Mathews Katherine |
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skeletal muscle 2018 8 8 (1): 23. Johnson Katherine, Bertoli Marta, Phillips Lauren, Töpf Ana, Van den Bergh Peter, Vissing John, Witting Nanna, Nafissi Shahriar, Jamal-Omidi Shirin, ?usakowska Anna, Kostera-Pruszczyk Anna, Potulska-Chromik Anna, Deconinck Nicolas, Wallgren-Pettersson Carina, Strang-Karlsson Sonja, Colomer Jaume, Claeys Kristl G, De Ridder Willem, Baets Jonathan, von der Hagen Maja, Fernández-Torrón Roberto, Zulaica Ijurco Miren, Espinal Valencia Juan Bautista, Hahn Andreas, Durmus Hacer, Willis Tracey, Xu Liwen, Valkanas Elise, Mullen Thomas E, Lek Monkol, MacArthur Daniel G, Straub Volk |
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing. Molecular genetics & genomic medicine 2020 9 8 (11): e1504. Carnevale Alessandra, Rosas-Madrigal Sandra, Rosendo-Gutiérrez Rigoberto, López-Mora Enrique, Romero-Hidalgo Sandra, Avila-Vazzini Nydia, Jacobo-Albavera Leonor, Domínguez-Pérez Mayra, Vargas-Alarcón Gilberto, Pérez-Villatoro Fernando, Navarrete-Martínez Juana Inés, Villarreal-Molina María Tere |
Loss-of-Function Variants in Cytoskeletal Genes Are Associated with Early-Onset Atrial Fibrillation. Journal of clinical medicine 2020 Jan 9 (2): . Vad Oliver Bundgaard, Paludan-Müller Christian, Ahlberg Gustav, Kalstø Silje Madeleine, Ghouse Jonas, Andreasen Laura, Haunsø Stig, Tveit Arnljot, Sajadieh Ahmad, Christophersen Ingrid Elisabeth, Svendsen Jesper Hastrup, Olesen Morten Salli |
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. Clinical genetics 2020 11 99 (3): 384-395. Song Danyu, Dai Yi, Chen Xiaoyu, Fu Xiaona, Chang Xingzhi, Wang Ning, Zhang Cheng, Yan Chuanzhu, Zheng Hong, Wu Liwen, Jiang Li, Hua Ying, Yang Haipo, Wang Zhiqiang, Dai Tingjun, Zhu Wenhua, Han Chunxi, Yuan Yun, Kobayashi Kazuhiro, Toda Tatsushi, Xiong H |
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs. Molecular genetics & genomic medicine 2021 6 9 (7): e1709. Al-Shafai Kholoud N, Al-Hashemi Mohammed, Manickam Chidambaram, Musa Rania, Selvaraj Senthil, Syed Najeeb, Vempalli Fazulur, Ali Muneera, Yacoub Magdi, Estivill Xavi |
Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 2021 5 85 (9): 1469-1478. Nguyen Thuy Vy, Tran Vu Minh Thu, Do Thi Nam Phuong, Tran Thi Huynh Nga, Do Thi Hao, Nguyen Thi My Hanh, Tran Huynh Bao Nam, Le Lan Anh, Nguyen Pham Ngoc Thieu, Nguyen Thi Dieu Ai, Nguyen Thi My Nuong, Le Ngoc Hong Phuong, Pham Nguyen Vinh, Ho Huynh Thuy Duo |
Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. The journal of obstetrics and gynaecology research 2022 7 48 (10): 2624-2629. Li Meng, Fu Huayu, Li Jiao, Meng Dahua, Zhang Qiang, Fei Dongm |
Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant ?-Dystroglycan Pattern. International journal of molecular sciences 2022 6 23 (12): . Gaertner Anna, Burr Lidia, Klauke Baerbel, Brodehl Andreas, Laser Kai Thorsten, Klingel Karin, Tiesmeier Jens, Schulz Uwe, Knyphausen Edzard Zu, Gummert Jan, Milting Hendr |
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. NPJ genomic medicine 2022 3 7 (1): 18. Lesurf Robert, Said Abdelrahman, Akinrinade Oyediran, Breckpot Jeroen, Delfosse Kathleen, Liu Ting, Yao Roderick, Persad Gabrielle, McKenna Fintan, Noche Ramil R, Oliveros Winona, Mattioli Kaia, Shah Shreya, Miron Anastasia, Yang Qian, Meng Guoliang, Yue Michelle Chan Seng, Sung Wilson W L, Thiruvahindrapuram Bhooma, Lougheed Jane, Oechslin Erwin, Mondal Tapas, Bergin Lynn, Smythe John, Jayappa Shashank, Rao Vinay J, Shenthar Jayaprakash, Dhandapany Perundurai S, Semsarian Christopher, Weintraub Robert G, Bagnall Richard D, Ingles Jodie, , Melé Marta, Maass Philipp G, Ellis James, Scherer Stephen W, Mital See |
Broad spectrum of phenotype and genotype in Korean ?-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center. Neuromuscular disorders : NMD 2023 4 33 (5): 425-431. Young Jun Ko, Anna Cho, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Hunmin Kim, Hee Hwang, Ji Eun Choi, Ki Joong Kim, Jong-Hee Ch |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: