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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 29, 2023. (Total: 221560Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Vascular Malformations and ACVRL1[original query]
Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system.
Journal of neurosurgery 2006 Jun 104 (6): 945-9.
Simon Matthias, Franke Daniel, Ludwig Michael, Aliashkevich Ales F, Köster Gertraud, Oldenburg Johannes, Boström Azize, Ziegler Andreas, Schramm Johann
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.
American journal of medical genetics. Part A 2012 Sep .
Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, Kim H, Pourmohamad T, Henderson KJ, Schrum SD, James M, Quinnine N, Bharatha A, Terbrugge KG, White RI
The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations.
American journal of medical genetics. Part A 2015 Jun 167 (6): 1262-7.
Pawlikowska Ludmila, Nelson Jeffrey, Guo Diana E, McCulloch Charles E, Lawton Michael T, Young William L, Kim Helen, Faughnan Marie E,
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
Orphanet journal of rare diseases 2020 9 15 (1): 254.
Giraud Sophie, Bardel Claire, Dupuis-Girod Sophie, Carette Marie-France, Gilbert-Dussardier Brigitte, Riviere Sophie, Saurin Jean-Christophe, Eyries Mélanie, Patri Sylvie, Decullier Evelyne, Calender Alain, Lesca Gaët
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