Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

Autor: Magdalena Harakalova, Martin Poot, Jasper J. van der Smagt, Jelena Medic, Xavier Jeunemaitre, Isaac J. Nijman, Lisa Golmard, Carolien G.F. de Kovel, Dick Lindhout, Jaap W. Deckers, Irene C. Joziasse, Ruben van 't Slot, Marjan M. Weiss, Edwin Cuppen, Annette F. Baas, Gerard Pals, Jolien W. Roos-Hesselink, Marja W. Wessels, Hubert F. Baars

Publikováno v: European Journal of Human Genetics; Vol 21
European Journal of Human Genetics, 21(5), 487-493. Nature Publishing Group
Harakalova, M, van der Smagt, J, de Kovel, C G F, van't Slot, R, Poot, M, Nijman, I J, Medic, J, Joziasse, I, Deckers, J, Roos-Hesselink, J W, Wessels, M W, Baars, H F, Weiss, M M, Pals, G, Golmard, L, Jeunemaitre, X, Lindhout, D, Cuppen, E & Baas, A F 2013, ' Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus ', European Journal of Human Genetics, vol. 21, no. 5, pp. 487-493 . https://doi.org/10.1038/ejhg.2012.206

Thoracic aortic aneurysms and dissections (TAAD) is a serious condition with high morbidity and mortality. It is estimated that 20% of non-syndromic TAAD cases are inherited in an autosomal-dominant pattern with variable expression and reduced penetr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::488043f5ce4c65d26edcf1bfca7559f4

ALK2 mutation in a patient with Down's syndrome and a congenital heart defect

Autor: Jasper J. van de Smagt, Maarten van Dinther, Sonja Chocron, Barbara J.M. Mulder, Cheryl L. Maslen, Kelly A. Smith, Irene C. Joziasse, Jeroen Bakkers, Benjamin Reshey, Peter ten Dijke, Pieter A. Doevendans, Victor Guryev, Edwin Cuppen

Publikováno v: European journal of human genetics, 19(4), 389-393. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, 19(4), 389-393. Nature Publishing Group
European Journal of Human Genetics, 19(4), 389-393

Down's syndrome (DS), resulting from an additional copy of chromosome 21 (trisomy 21), is frequently associated with congenital heart defects (CHDs). Although the increased dosage of chromosome 21 sequences is likely to be part of the etiology of car

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2167497c405db184a9c419ee8977028c
https://pure.amc.nl/en/publications/alk2-mutation-in-a-patient-with-downs-syndrome-and-a-congenital-heart-defect(6621b119-8515-4cae-adc4-a34b84647f90).html

Dominant-negative ALK2 allele associates with congenital heart defects

Autor: Joeroen Bakkers, Barbara J.M. Mulder, Kelly A. Smith, Manon C. Verhoeven, Pieter A. Doevendans, Victor Guryev, Holger Rehmann, Irene C. Joziasse, Peter ten Dijke, Edwin Cuppen, Sonja Chocron, Jasper J. van der Smagt, Maarten van Dinther

Publikováno v: Circulation, 119(24), 3062-9. LIPPINCOTT WILLIAMS & WILKINS
Circulation, 119(24), 3062-3069. Lippincott Williams and Wilkins
Circulation, 119(24), 3062-3069. Lippincott Williams & Wilkins

Background— Serious congenital heart defects occur as a result of improper atrioventricular septum (AVS) development during embryogenesis. Despite extensive knowledge of the genetic control of AVS development, few genetic lesions have been identifi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae40a09c1c3323fadba404744a66fc3
https://research.rug.nl/en/publications/4dbc31db-91e8-4c58-973d-4faaf754028c

Genes in congenital heart disease: atrioventricular valve formation

Autor: P. A. F. M. Doevendans, Jeroen Bakkers, Gertjan T. Sieswerda, Kelly A. Smith, Barbara J. M. Mulder, Irene C. Joziasse, Jasper J. van de Smagt

Publikováno v: Basic Research in Cardiology, 103(3), 216-227. D. Steinkopff-Verlag

Through the use of animal studies, many candidate genes (mainly encoding transcriptional factors and receptors) have been implicated in the development of congenital heart disease. Thus far, only a minority of these genes have been shown to carry mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87cddca7ad0dc82f68f08d84ab8fbcff
https://pure.knaw.nl/portal/en/publications/ba75491b-95b1-4364-b80b-757e02bc1b10

Antiplatelet therapy and progression of coronary artery disease: a placebo-controlled trial with angiographic and clinical follow-up after myocardial infarction

Autor: Teena West, Bruce Webber, Marc A. Brouwer, John K. French, Irene C. Joziasse, Hendrik-Jan Dieker, Harvey D. White, Freek W.A. Verheugt, John Elliott

Publikováno v: American Heart Journal. 153:66.e1-66.e8

Introduction In patients after ST-elevation myocardial infarction (STEMI), antiplatelet therapy reduces subsequent cardiac events, which are often attributed to recurrent thrombosis with (sub)total occlusion in the infarct-related artery. Whether ant

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6671174b0ca6ec073d179428fdc22dbe
https://doi.org/10.1016/j.ahj.2006.10.006