Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: FRMD7[original query] |
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Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. Brain : a journal of neurology 2008 May 131 (Pt 5): 1259-67. Thomas Shery, Proudlock Frank A, Sarvananthan Nagini, Roberts Eryl O, Awan Musarat, McLean Rebecca, Surendran Mylvaganam, Kumar A S Anil, Farooq Shegufta J, Degg Chris, Gale Richard P, Reinecke Robert D, Woodruff Geoffrey, Langmann Andrea, Lindner Susanne, Jain Sunila, Tarpey Patrick, Raymond F Lucy, Gottlob Ire |
X-chromosomal maternal and fetal SNPs and the risk of spontaneous preterm delivery in a Danish/Norwegian genome-wide association study. PloS one 2013 8 (4): e61781. Myking Solveig, Boyd Heather A, Myhre Ronny, Feenstra Bjarke, Jugessur Astanand, Devold Pay Aase S, Ostensen Ingrid H G, Morken Nils-Halvdan, Busch Tamara, Ryckman Kelli K, Geller Frank, Magnus Per, Gjessing Håkon K, Melbye Mads, Jacobsson Bo, Murray Jeffrey |
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. Investigative ophthalmology & visual science 2015 Mar 56 (3): 1701-10. AlMoallem Basamat, Bauwens Miriam, Walraedt Sophie, Delbeke Patricia, De Zaeytijd Julie, Kestelyn Philippe, Meire Françoise, Janssens Sandra, van Cauwenbergh Caroline, Verdin Hannah, Hooghe Sally, Kumar Thakur Prasoon, Coppieters Frauke, De Leeneer Kim, Devriendt Koenraad, Leroy Bart P, De Baere Elfri |
Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome. Investigative ophthalmology & visual science 2018 7 59 (7): 3181-3188. Choi Jae-Hwan, Jung Jae-Ho, Oh Eun Hye, Shin Jin-Hong, Kim Hyang-Sook, Seo Je Hyun, Choi Seo Young, Kim Min-Ji, Choi Hee Young, Lee Changwook, Choi Kwang-Do |
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus. Frontiers in cell and developmental biology 2021 3 9 627295. Wang Xiao-Fang, Chen Hui, Huang Peng-Juan, Feng Zhuo-Kun, Hua Zi-Qi, Feng Xiang, Han Fang, Xu Xiao-Tao, Shen Ren-Juan, Li Yang, Jin Zi-Bing, Yu Huan-Y |
Discordant phenotypes in twins with infantile nystagmus. Scientific reports 2021 2 11 (1): 2826. Aamir Abdullah, Kuht Helen J, McLean Rebecca J, Maconachie Gail D E, Sheth Viral, Dawar Basu, Purohit Ravi, Sylvius Nicolas, Hisaund Michael, Zubcov-Iwantscheff Alina, Proudlock Frank A, Gottlob Irene, Thomas Mervyn |
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology 2022 2 129 (6): 708-718. Kuht Helen J, Maconachie Gail D E, Han Jinu, Kessel Line, van Genderen Maria M, McLean Rebecca J, Hisaund Michael, Tu Zhanhan, Hertle Richard W, Gronskov Karen, Bai Dayong, Wei Aihua, Li Wei, Jiao Yonghong, Smirnov Vasily, Choi Jae-Hwan, Tobin Martin D, Sheth Viral, Purohit Ravi, Dawar Basu, Girach Ayesha, Strul Sasha, May Laura, Chen Fred K, Heath Jeffery Rachael C, Aamir Abdullah, Sano Ronaldo, Jin Jing, Brooks Brian P, Kohl Susanne, Arveiler Benoit, Montoliu Lluis, Engle Elizabeth C, Proudlock Frank A, Nishad Garima, Pani Prateek, Varma Girish, Gottlob Irene, Thomas Mervyn |
Pregnancy-Associated Bleeding and Genetics: Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage. medRxiv : the preprint server for health sciences 2023 8 . David Westergaard, Valgerdur Steinthorsdottir, Lilja Stefansdottir, Palle Duun Rohde, Xiaoping Wu, Frank Geller, Jaakko Tyrmi, Aki S Havulinna, Pol Sole Navais, Christopher Flatley, Sisse Rye Ostrowski, Ole Birger Pedersen, Christian Erikstrup, Erik Sørensen, Christina Mikkelsen, Mie Topholm Brun, Bitten Aagaard Jensen, Thorsten Brodersen, Henrik Ullum, , , , , Per Magnus, Ole A Andreassen, Pål R Njolstad, Astrid Marie Kolte, Lone Krebs, Mette Nyegaard, Thomas Folkmann Hansen, Bjarke Fenstra, Mark Daly, Cecilia M Lindgren, Gudmar Thorleifsson, Olafur A Stefansson, Gardar Sveinbjornsson, Daniel F Gudbjartsson, Unnur Thorsteinsdottir, Karina Banasik, Bo Jacobsson, Triin Laisk, Hannele Laivuori, Kari Stefansson, Søren Brunak, Henriette Svarre Niels |
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
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- Page last updated:Mar 25, 2024
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