Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

Autor: Helen R Griffin, Darroch H Hall, Ana Topf, James Eden, A Graham Stuart, Jonathan Parsons, Ian Peart, John E Deanfield, John O'Sullivan, Sonya V Babu-Narayan, Michael A Gatzoulis, Frances A Bu'lock, Shoumo Bhattacharya, Jamie Bentham, Martin Farrall, Javier Granados Riveron, J David Brook, John Burn, Heather J Cordell, Judith A Goodship, Bernard Keavney

Publikováno v: PLoS ONE, Vol 4, Iss 3, p e4978 (2009)

Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF) gene in causing congenital cardiovascular malformation (CVM). However, results have been discrepant between studies and n

Externí odkaz: https://doaj.org/article/2c26e9e99a944adc87ae6fd42ea845bd

Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome

Autor: David Cruz, Mariana Rives, María Villanueva, Norma Balderrabano-Saucedo, Arodi Farrera, Patricia G. Medina-Bravo, Elizabeth Hernández-Carbajal, Javier Granados-Riveron, Alfredo Vizcaíno, Rocío Sánchez-Urbina

Publikováno v: Head & Face Medicine
Head & Face Medicine, Vol 15, Iss 1, Pp 1-12 (2019)

Background 22q11.2 deletion syndrome is a medical condition that results from genomic loss at chromosome 22. Affected patients exhibit large variability that ranges from a severe condition to mild symptoms. In addition, the spectrum of clinical featu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a32c878f2d994cfb149c6311e729a95
https://pubmed.ncbi.nlm.nih.gov/31829202

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

Autor: Jamie Bentham, Tomasz Pierscionek, Jeroen Breckpot, Klaartje van Engelen, Antoon F.M. Moorman, Kerry Setchfield, Marc Gewillig, Catherine Cosgrove, Faith Pangilinan, Shoumo Bhattacharya, G. Mark Lathrop, Koenraad Devriendt, James L. Mills, R Reid Prentice, Lawrence C. Brody, Frances A. Bu'Lock, Barbara J.M. Mulder, Danielle L. Brown, Martin Farrall, Mark W. Russell, Chris Thornborough, Javier Granados Riveron, Kenneth A. Pass, Gillian M. Blue, Alex V. Postma, A. H. Zwinderman, Judith A. Goodship, Darroch Hall, David S. Winlaw, John O'Sullivan, Chrysovalanto Mamasoula, Bernard Keavney, Charlotte M. Druschel, A Graham Stuart, Diana Zelenika, J. David Brook, Thahira Rahman, Heather J. Cordell, Anita Rauch, Ana Töpf, Huay Lin Tan, Julian Palomino Doza

Publikováno v: Circulation. Cardiovascular genetics, 6(4), 347-353. Lippincott Williams and Wilkins
Circulation: Cardiovascular Genetics; Vol 6
Circulation: Cardiovascular Genetics, 6(4), 347-353. Lippincott Williams and Wilkins
Mamasoula, C, Prentice, R R, Pierscionek, T, Pangilinan, F, Mills, J L, Druschel, C, Pass, K, Russell, M W, Hall, D, Töpf, A, Brown, D L, Zelenika, D, Bentham, J, Cosgrove, C, Bhattacharya, S, Riveron, J G, Setchfield, K, Brook, J D, Bu'Lock, F A, Thornborough, C, Rahman, T J, Doza, J P, Tan, H L, O'Sullivan, J, Stuart, A G, Blue, G, Winlaw, D, Postma, A V, Mulder, B J M, Zwinderman, A H, Van Engelen, K, Moorman, A F M, Rauch, A, Gewillig, M, Breckpot, J, Devriendt, K, Lathrop, G M, Farrall, M, Goodship, J A, Cordell, H J, Brody, L C & Keavney, B D 2013, ' Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease : Meta-analysis of 7697 cases and 13 125 controls ', Circulation: Cardiovascular Genetics, vol. 6, no. 4, pp. 347-353 . https://doi.org/10.1161/CIRCGENETICS.113.000191

Background— Association between the C677T polymorphism of the methylene tetrahydrofolate reductase ( MTHFR ) gene and congenital heart disease (CHD) is contentious. Methods and Results— We compared genotypes between CHD cases and controls and bet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142eb8f9ba01d94e70d20edc760cea3c
https://doi.org/10.5167/uzh-88189