Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: COL6A2[original query] |
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An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. American journal of human genetics 2012 Oct 91 (4): 646-59. Ackerman Christine, Locke Adam E, Feingold Eleanor, Reshey Benjamin, Espana Karina, Thusberg Janita, Mooney Sean, Bean Lora J H, Dooley Kenneth J, Cua Clifford L, Reeves Roger H, Sherman Stephanie L, Maslen Cheryl |
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. Frontiers in genetics 2013 4 57. Dey Arpita, Bhowmik Krishnendu, Chatterjee Arpita, Chakrabarty Pit Baran, Sinha Swagata, Mukhopadhyay Kanch |
[Noninvasive prenatal screen of trisomy-21 using maternal plasma fetal free RNA allelic ratio]. Zhonghua fu chan ke za zhi 2015 Aug 50 (8): 568-75. Xu Yajuan, Zhai Shanshan, Luo Xiaohua, Zhang Yingying, Ran Limin, Ren Lid |
Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 May . Childs Erica J, Chaffee Kari G, Gallinger Steven, Syngal Sapna, Schwartz Ann G, Cote Michele L, Bondy Melissa L, Hruban Ralph H, Chanock Stephen J, Hoover Robert N, Fuchs Charles S, Rider David N, Amundadottir Laufey T, Stolzenberg-Solomon Rachael, Wolpin Brian M, Risch Harvey A, Goggins Michael G, Petersen Gloria M, Klein Alison |
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls. Pediatric research 2018 11 84 (6): 837-841. Asteggiano Carla Gabriela, Papazoglu Magali, Bistué Millón María Beatriz, Peralta María Fernanda, Azar Nydia Beatriz, Spécola Norma Spécola, Guelbert Norberto, Suldrup Niels Suldrup, Pereyra Marcela, Dodelson de Kremer Raqu |
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. Journal of neuromuscular diseases 2019 5 6 (2): 241-258. Westra Dineke, Schouten Meyke I, Stunnenberg Bas C, Kusters Benno, Saris Christiaan G J, Erasmus Corrie E, van Engelen Baziel G, Bulk Saskia, Verschuuren-Bemelmans Corien C, Gerkes E H, de Geus Christa, van der Zwaag P A, Chan Sophelia, Chung Brian, Barge-Schaapveld Daniela Q C M, Kriek Marjolein, Sznajer Yves, van Spaendonck-Zwarts Karin, van der Kooi Anneke J, Krause Amanda, Schönewolf-Greulich Bitten, de Die-Smulders Christine, Sallevelt Suzanne C E H, Krapels Ingrid P C, Rasmussen Magnhild, Maystadt Isabelle, Kievit Anneke J A, Witting Nanna, Pennings Maartje, Meijer Rowdy, Gillissen Christian, Kamsteeg Erik-Jan, Voermans Nicol |
[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2021 3 43 (1): 25-31. Li Zi Quan, Geng Mo Zhao, Zhao Sen, Wu Zhi Hong, Zhang Jian Guo, Wu Nan, Wang Yi Pe |
Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey. Annals of Indian Academy of Neurology 2021 11 24 (4): 547-551. Kutluk Muhammet G, Kadem Naz, Bektas Omer, Randa Nadide C, Tuncer Gökcen O, Albayrak Pelin, Eminoglu Tuba, Teber Serap |
Identification of genetic variants related to metabolic syndrome by next-generation sequencing. Diabetology & metabolic syndrome 2022 Aug 14 (1): 119. Lee Sanghoo, Kim Seol-A, Hong Jeonghoon, Kim Yejin, Hong Gayeon, Baik SaeYun, Choi Kyeonghwan, Lee Mi-Kyeong, Lee Kyoung-Ry |
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center. Frontiers in genetics 2023 12 14 1242277. Victor Morel, Frédérique Audic, Charlotte Tardy, Annie Verschueren, Shahram Attarian, Karine Nguyen, Emmanuelle Salort-Campana, Martin Krahn, Brigitte Chabrol, Svetlana Gorokho |
Rare genetic variation in fibronectin 1 (FN1) protects against APOE?4 in Alzheimer's disease. Acta neuropathologica 2024 4 147 (1): 70. Prabesh Bhattarai, Tamil Iniyan Gunasekaran, Michael E Belloy, Dolly Reyes-Dumeyer, Dörthe Jülich, Hüseyin Tayran, Elanur Yilmaz, Delaney Flaherty, Bengisu Turgutalp, Gauthaman Sukumar, Camille Alba, Elisa Martinez McGrath, Daniel N Hupalo, Dagmar Bacikova, Yann Le Guen, Rafael Lantigua, Martin Medrano, Diones Rivera, Patricia Recio, Tal Nuriel, Nilüfer Ertekin-Taner, Andrew F Teich, Dennis W Dickson, Scott Holley, Michael Greicius, Clifton L Dalgard, Michael Zody, Richard Mayeux, Caghan Kizil, Badri N Vardaraj |
Rare genetic variation in Fibronectin 1 ( FN1 ) protects against APOEe4 in Alzheimer's disease. bioRxiv : the preprint server for biology 2024 1 . Prabesh Bhattarai, Tamil Iniyan Gunasekaran, Dolly Reyes-Dumeyer, Dörthe Jülich, Hüseyin Tayran, Elanur Yilmaz, Delaney Flaherty, Rafael Lantigua, Martin Medrano, Diones Rivera, Patricia Recio, Nilüfer Ertekin-Taner, Andrew F Teich, Dennis W Dickson, Scott Holley, Richard Mayeux, Caghan Kizil, Badri N Vardaraj |
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- Page last updated:Apr 22, 2024
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