Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Irene C. Joziasse"'
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
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
Autor:
M. F. M. van Oosterhout, A. Vink, Barbara J.M. Mulder, Gertjan T. Sieswerda, Irene C. Joziasse, Maarten J. Cramer, P. A. F. M. Doevendans, L. A. van Herwerden, R. Heijmen
Publikováno v:
Netherlands Heart Journal
Netherlands heart journal, 19(3), 119-125. Bohn Stafleu van Loghum
Netherlands heart journal, 19(3), 119-125. Bohn Stafleu van Loghum
BACKGROUND: Bicuspid aortic valve (BAV) is one of the most common congenital heart defects with a population prevalence of 0.5% to 1.3%. Identifying patients with BAV is clinically relevant because BAV is associated with aortic stenosis, endocarditis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92fe06c4d5ff27d64208093f7c25199a
https://doi.org/10.1007/s12471-010-0060-6
https://doi.org/10.1007/s12471-010-0060-6
Autor:
Martin Poot, Marielle E. van Gijn, Irene C. Joziasse, Marcel R. Nelen, Barbara J.M. Mulder, Ron Hochstenbach, Dennis Dooijes, Pieter A. Doevendans, Jasper J. van der Smagt
Publikováno v:
American journal of medical genetics. Part A, 149A(5), 1062-1066. Wiley-Liss Inc.
A Duplication Including GATA4 Does Not Co-Segregate With Congenital Heart Defects Irene C. Joziasse,* Jasper J. van der Smagt, Martin Poot, Ron Hochstenbach, Marcel R. Nelen, Marielle van Gijn, Dennis Dooijes, Barbara J.M. Mulder, and Pieter A. Doeve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6525138c5a54cc3cd949939a5d3f0d64
https://pubmed.ncbi.nlm.nih.gov/19353638
https://pubmed.ncbi.nlm.nih.gov/19353638
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
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
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
Publikováno v:
Clinical Cardiogenetics ISBN: 9781849964708
The first reference in history to the presence of congenital heart defects comes from a Babylonian tablet which dates back to around 4,000 BC. The description mentions: “When a woman gives birth to an infant that has the heart open and has no skin,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc6c3cc21b22f42ec6e7802ac841c11d
https://doi.org/10.1007/978-1-84996-471-5_19
https://doi.org/10.1007/978-1-84996-471-5_19
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
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
https://research.rug.nl/en/publications/4dbc31db-91e8-4c58-973d-4faaf754028c
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
https://pure.knaw.nl/portal/en/publications/ba75491b-95b1-4364-b80b-757e02bc1b10
Autor:
Jeroen Bakkers, Sonja Chocron, Victor Gouriev, Kelly Smith, Ronald Lekanne dit Deprez, Irene C Joziasse, Pieter A Doevendans, Barbara J Mulder, Melanie Simpson, Joseph Barycki, Edwin Cuppen
Publikováno v:
Circulation. 116
Background: Congenital heart defects are the most common birth defects. Although genetic dispositions are believed to cause CHDs, only few genes have been identified that harbour mutations causing such defects. Studies in model organisms have identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff1882bdd177274d4dde31b6bc2f9348
https://doi.org/10.1161/circ.116.suppl_16.ii_604
https://doi.org/10.1161/circ.116.suppl_16.ii_604
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
https://doi.org/10.1016/j.ahj.2006.10.006
Autor:
Joziasse, Irene C., van de Smagt, Jasper J., Smith, Kelly, Bakkers, Jeroen, Sieswerda, Gert-Jan, Mulder, Barbara J. M., Doevendans, Peter A.
Publikováno v:
Basic Research in Cardiology; May2008, Vol. 103 Issue 3, p216-227, 12p, 2 Diagrams, 1 Chart