Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Syndrome and COL5A2[original query] |
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Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients. Human genetics 2003 Dec 114 (1): 87-98. McCarthy Jeanette J, Meyer Joanne, Moliterno David J, Newby L Kristin, Rogers William J, Topol Eric J, |
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clinical genetics 2020 12 99 (4): 547-557. Zarate Yuri A, Bosanko Katherine A, Thomas Mary Ann, Miller David T, Cusmano-Ozog Kristina, Martinez-Monseny Antonio, Curry Cynthia J, Graham John M, Velsher Lea, Bekheirnia Mir Reza, Seidel Veronica, Dedousis Demitrios, Mitchell Anna L, DiMarino Amy M, Riess Angelika, Balasubramanian Meena, Fish Jennifer L, Caffrey Aisling R, Fleischer Nicole, Pierson Tyler Mark, Lacro Ronald |
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. PloS one 2021 16 (5): e0251289. Urbizu Aintzane, Garrett Melanie E, Soldano Karen, Drechsel Oliver, Loth Dorothy, Marcé-Grau Anna, Mestres I Soler Olga, Poca Maria A, Ossowski Stephan, Macaya Alfons, Loth Francis, Labuda Rick, Ashley-Koch Allis |
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 |
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