Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Syndrome and COL5A1[original query] |
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The COL5A1 genotype is associated with range of motion measurements. Scandinavian journal of medicine & science in sports 2009 Dec 19 (6): 803-10. Collins M, Mokone G G, September A V, van der Merwe L, Schwellnus M |
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
![]() Human genetics 2012 Nov 131 (11): 1783-93. Hoehn René, Zeller Tanja, Verhoeven Virginie J M, Grus Franz, Adler Max, Wolfs Roger C, Uitterlinden André G, Castagne Raphaële, Schillert Arne, Klaver Caroline C W, Pfeiffer Norbert, Mirshahi Alire |
Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: a genetic association study. Journal of science and medicine in sport / Sports Medicine Australia 2013 Nov 16 (6): 493-8. El Khoury Louis, Posthumus Michael, Collins Malcolm, Handley Christopher J, Cook Jill, Raleigh Stuart |
The BGN and ACAN genes and carpal tunnel syndrome. Gene 2014 Nov 551 (2): 160-6. Burger Marilize C, De Wet Hanli, Collins Malco |
The COL5A1 gene is associated with increased risk of carpal tunnel syndrome. Clinical rheumatology 2015 Apr 34 (4): 767-74. Burger Marilize, de Wet Hanli, Collins Malco |
Interleukin and growth factor gene variants and risk of carpal tunnel syndrome. Gene 2015 Jun 564 (1): 67-72. Burger Marilize C, de Wet Hanli, Collins Malco |
Carpal tunnel syndrome: The role of collagen gene variants. Gene 2016 Apr . Dada Suhail, Burger Marilize C, Massij Franka, de Wet Hanli, Collins Malco |
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar . Weerakkody Ruwan A, Vandrovcova Jana, Kanonidou Christina, Mueller Michael, Gampawar Piyush, Ibrahim Yousef, Norsworthy Penny, Biggs Jennifer, Abdullah Abdulshakur, Ross David, Black Holly A, Ferguson David, Cheshire Nicholas J, Kazkaz Hanadi, Grahame Rodney, Ghali Neeti, Vandersteen Anthony, Pope F Michael, Aitman Timothy |
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. Arteriosclerosis, thrombosis, and vascular biology 2020 9 40 (11): 2686-2699. Richer Julie, Hill Hannah L, Wang Yu, Yang Min-Lee, Hunker Kristina L, Lane Jamie, Blackburn Susan, Coleman Dawn M, Eliason Jonathan, Sillon Guillaume, D'Agostino Maria-Daniela, Jetty Prasad, Mongeon François-Pierre, Laberge Anne-Marie, Ryan Stephen E, Fendrikova-Mahlay Natalia, Coutinho Thais, Mathis Michael R, Zawistowski Matthew, Hazen Stanley L, Katz Alexander E, Gornik Heather L, Brummett Chad M, Abecasis Goncalo, Bergin Ingrid L, Stanley James C, Li Jun Z, Ganesh Santhi |
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes. European journal of human genetics : EJHG 2021 3 29 (12): 1745-1755. Fransen Erik, Valgaeren Hanne, Janssens Katleen, Sommen Manou, De Ridder Raphael, Vandeweyer Geert, Bisceglia Luigi, Soler Vincent, Hoischen Alexander, Mortier Geert, Malecaze François, Koppen Carina, Van Camp G |
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features. American journal of medical genetics. Part A 2022 4 188 (7): 2192-2197. Lavanya Katta, Mahtani Karishma, Abbott Jessica, Jain Angita, Selvam Pavalan, Atwal Herjot, Farres Houssam, Atwal Paldeep |
Inherited Variants in the COL11A, COL1A, COL5A1, COMP, GSTM1 Genes and the Risk of Carpal Tunnel Syndrome. Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V... 2024 9 56 (5): 359-367. Andrzej Zyluk, Tadeusz Debniak, Filip Flicinski, Helena Rudnic |
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