Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: DYSF[original query] |
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Evidence-based path to newborn screening for Duchenne muscular dystrophy. Annals of neurology 2012 Mar 71 (3): 3. Mendell JR, Shilling C, Leslie ND, Flanigan KM, Al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC neurology 2014 14 154. Stehlíková Kristýna, Skálová Daniela, Zídková Jana, Mrázová Lenka, Vondrá?ek Petr, Mazanec Radim, Vohá?ka Stanislav, Haberlová Jana, Hermanová Markéta, Záme?ník Josef, Sou?ek Ond?ej, Ošlejšková Hana, Dvo?á?ková Nina, Sola?ová Pavla, Fajkusová Len |
A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy. JAMA neurology 2015 Apr 72 (4): 414-22. Chen Jason A, Wang Qing, Davis-Turak Jeremy, Li Yun, Karydas Anna M, Hsu Sandy C, Sears Renee L, Chatzopoulou Doxa, Huang Alden Y, Wojta Kevin J, Klein Eric, Lee Jason, Beekly Duane L, Boxer Adam, Faber Kelley M, Haase Claudia M, Miller Josh, Poon Wayne W, Rosen Ami, Rosen Howard, Sapozhnikova Anna, Shapira Jill, Varpetian Arousiak, Foroud Tatiana M, Levenson Robert W, Levey Allan I, Kukull Walter A, Mendez Mario F, Ringman John, Chui Helena, Cotman Carl, DeCarli Charles, Miller Bruce L, Geschwind Daniel H, Coppola Giovan |
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. Neurology India 0 62 (6): 635-9. Xi Jianying, Blandin Gaelle, Lu Jiahong, Luo Sushan, Zhu Wenhua, Béroud Christophe, Pécheux Christophe, Labelle Véronique, Lévy Nicolas, Urtizberea Jon Andoni, Zhao Chongbo, Krahn Mart |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. Clinical genetics 2016 Jul . Park Hyung Jun, Jang Hoon, Kim Ji Hye, Lee Jung Hwan, Shin Ha Young, Kim Seung Min, Park Kee Duk, Yim Sung-Vin, Lee Ji Hyun, Choi Young-Ch |
Screening two mutations in the dysferlin gene by exon capture and sequence analysis: A case report. Experimental and therapeutic medicine 2016 Jul 12 (1): 41-44. Wang Xueyan, Yang Yun, Zhou Ro |
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clinical genetics 2016 May . Fattahi Zohreh, Kalhor Zahra, Fadaee Mahsa, Vazehan Raheleh, Parsimehr Elham, Abolhassani Ayda, Beheshtian Maryam, Zamani Gholamreza, Nafissi Shahriar, Nilipour Yalda, Akbari Mohammad R, Kahrizi Kimia, Kariminejad Ariana, Najmabadi Hosse |
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing. Neurology. Genetics 2015 Dec 1 (4): e36. Izumi Rumiko, Niihori Tetsuya, Takahashi Toshiaki, Suzuki Naoki, Tateyama Maki, Watanabe Chigusa, Sugie Kazuma, Nakanishi Hirotaka, Sobue Gen, Kato Masaaki, Warita Hitoshi, Aoki Yoko, Aoki Masas |
Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study.
International journal of cancer 2017 May . Tang Hongwei, Wei Peng, Chang Ping, Li Yanan, Yan Dong, Liu Chang, Hassan Manal, Li Dongh |
A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy. Neuropathology : official journal of the Japanese Society of Neuropathology 2018 5 . Tang Jin, Song Xueqin, Ji Guang, Wu Hongran, Sun Shuyan, Lu Shan, Li Yuan, Zhang Chi, Zhang Huiqi |
Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.
PloS one 2018 13 (1): e0185490. Kawaguchi Takahisa, Shima Toshihide, Mizuno Masayuki, Mitsumoto Yasuhide, Umemura Atsushi, Kanbara Yoshihiro, Tanaka Saiyu, Sumida Yoshio, Yasui Kohichiro, Takahashi Meiko, Matsuo Keitaro, Itoh Yoshito, Tokushige Katsutoshi, Hashimoto Etsuko, Kiyosawa Kendo, Kawaguchi Masanori, Itoh Hiroyuki, Uto Hirofumi, Komorizono Yasuji, Shirabe Ken, Takami Shiro, Takamura Toshinari, Kawanaka Miwa, Yamada Ryo, Matsuda Fumihiko, Okanoue Takes |
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. Clinical genetics 2019 3 96 (2): 126-133. Ten Dam Leroy, Frankhuizen Wendy S, Linssen Wim H J P, Straathof Chiara S, Niks Erik H, Faber Karin, Fock Annemarie, Kuks Jan B, Brusse Esther, de Coo René, Voermans Nicol, Verrips Aad, Hoogendijk Jessica E, van der Pol Ludo, Westra Dineke, de Visser Marianne, van der Kooi Anneke J, Ginjaar Ie |
Null variants in DYSF result in earlier symptom onset. Clinical genetics 2020 11 99 (3): 396-406. Park Hyung Jun, Hong Young Bin, Hong Ji-Man, Yun UnKyu, Kim Seung Woo, Shin Ha Young, Kim Seung Min, Choi Young-Ch |
Unique molecular features and clinical outcomes in young patients with non-small cell lung cancer harboring ALK fusion genes. Journal of cancer research and clinical oncology 2020 Jan . Tian Panwen, Liu Yujie, Zeng Hao, Tang Yuan, Lizaso Analyn, Ye Junyi, Shao Lin, Li Yal |
Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect. Orphanet journal of rare diseases 2020 1 15 (1): 14. Mojbafan Marzieh, Bahmani Reza, Bagheri Samira Dabbagh, Sharifi Zohreh, Zeinali Siro |
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective. Human mutation 2021 9 42 (12): 1615-1623. Zhong Huahua, Yu Meng, Lin Pengfei, Zhao Zhe, Zheng Xueying, Xi Jianying, Zhu Wenhua, Zheng Yiming, Zhang Wei, Lv He, Yan Chuanzhu, Hu Jing, Wang Zhaoxia, Lu Jiahong, Zhao Chongbo, Luo Sushan, Yuan Y |
Myopathic Cardiac Genotypes Increase Risk for Myocarditis. JACC. Basic to translational science 2021 Jul 6 (7): 584-592. Kontorovich Amy R, Patel Nihir, Moscati Arden, Richter Felix, Peter Inga, Purevjav Enkhsaikhan, Selejan Simina Ramona, Kindermann Ingrid, Towbin Jeffrey A, Bohm Michael, Klingel Karin, Gelb Bruce |
Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis. Archives of gynecology and obstetrics 2021 5 304 (3): 671-677. Peng Li-Sha, Li Zeng-Ming, Chen Ge, Liu Fa-Ying, Luo Yong, Guo Jiu-Bai, Gao Guo-Dong, Deng Ying-Hui, Xu Li-Xian, Zhou Jiang-Yan, Zou Ya |
[Analysis of genetic variants in five pedigrees affected with Dysferlinopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 3 38 (3): 205-209. Xia Yanjie, Shi Panlai, Hou Yaqin, Chen Duo, Dai Peng, Zhao Xinyu, Kong Xiangdo |
Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses. Frontiers in neurology 2021 2 11 540098. Zhang Huili, Li Yaqin, Cheng Qiusheng, Chen Xi, Yu Qiuxia, Li |
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey. Journal of neuromuscular diseases 2021 1 8 (2): 261-272. Ten Dam L, de Visser M, Ginjaar Ieke B, van Duyvenvoorde Hermine A, van Koningsbruggen Silvana, van der Kooi Anneke |
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes 2022 6 13 (6): . Cerino Mathieu, González-Hormazábal Patricio, Abaji Mario, Courrier Sebastien, Puppo Francesca, Mathieu Yves, Trangulao Alejandra, Earle Nicholas, Castiglioni Claudia, Díaz Jorge, Campero Mario, Hughes Ricardo, Vargas Carmen, Cortés Rocío, Kleinsteuber Karin, Acosta Ignacio, Urtizberea J Andoni, Lévy Nicolas, Bartoli Marc, Krahn Martin, Jara Lilian, Caviedes Pablo, Gorokhova Svetlana, Bevilacqua Jorge |
A genetic risk variant for multiple sclerosis severity is associated with brain atrophy. Annals of neurology 2023 9 . Christiane Gasperi, Tun Wiltgen, Julian McGinnis, Stefano Cerri, Thomas Moridi, Russell Ouellette, Albert Pukaj, Cuici Voon, Cemsel Bafligil, Markus Lauerer, Till F M Andlauer, Friederike Held, Lilian Aly, Klementy Shchetynsky, Pernilla Stridh, Adil Harroud, Benedikt Wiestler, Jan S Kirschke, Claus Zimmer, Aris Baras, Fredrik Piehl, Achim Berthele, Tobias Granberg, Ingrid Kockum, Bernhard Hemmer, Mark Mühl |
Locus for severity implicates CNS resilience in progression of multiple sclerosis. Nature 2023 6 . , |
Computed tomography-detected extramural venous invasion-related gene signature: a potential negative biomarker of immune checkpoint inhibitor treatment in patients with gastric cancer. Journal of translational medicine 2023 1 21 (1): 4. Yang Hao, Gou Xinyi, Feng Caizhen, Zhang Yinli, Chai Fan, Hong Nan, Ye Yingjiang, Wang Yi, Gao Bo, Cheng J |
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- Page last updated:May 06, 2024
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