Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Autor: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

Abstract Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. W

Externí odkaz: https://doaj.org/article/4c768b28545c4e9c80d7adf8d44f46ec

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships

Autor: Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke

Publikováno v: American journal of medical genetics. Part A, 191(2), 479-489. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 191, 2, pp. 479-489
The American Journal of Medical Genetics-Part A, 191(2), 479-489. WILEY
American Journal of Medical Genetics, Part A, 191(2), 479-489. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 191(2), 479-489. Wiley
American Journal of Medical Genetics. Part A, 191, 479-489
American journal of medical genetics : part A
American Journal of Medical Genetics, Part A, 191(2). Wiley
American journal of medical genetics. Part A. Wiley-Liss Inc.
Lauffer, P, Pals, G, Zwinderman, A H, Postema, F A M, Baars, M J H, Dulfer, E, Hilhorst-Hofstee, Y, Houweling, A C, Kempers, M, Krapels, I P C, van de Laar, I M B H, Loeys, B, Spaans, A M J, Warnink-Kavelaars, J, de Waard, V, Wit, J M & Menke, L A 2023, ' Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships ', American Journal of Medical Genetics, Part A, vol. 191, no. 2, pp. 479-489 . https://doi.org/10.1002/ajmg.a.63047

Contains fulltext : 291333.pdf (Publisher’s version ) (Open Access) To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf63bc3c8b0e7ba50b2144750c962866
https://doi.org/10.1002/ajmg.a.63047

Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy

Autor: Sophie L V M, Stroeks, Debby M E I, Hellebrekers, Godelieve R F, Claes, Upasana, Tayal, Ingrid P C, Krapels, Els K, Vanhoutte, Arthur, van den Wijngaard, Michiel T H M, Henkens, James S, Ware, Stephane R B, Heymans, Han G, Brunner, Job A J, Verdonschot

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 23(11)

Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set of proposed refined American College of Medical Genetics and Genomics/Association for Molecular Path

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9e9ea9986a9e17881406cd1d837d0a7b
https://pubmed.ncbi.nlm.nih.gov/34194005

Congenital hydrocephalus in clinical practice: A genetic diagnostic approach

Autor: Merryn V. E. Macville, F. H. M. van Lint, P. C. Krapels, Antonio W. D. Gavilanes, J. W. Weber, John J.M. Engelen, Alexander P.A. Stegmann, Suzanna G.M. Frints, Ctrm Schrander-Stumpel, Christine Willekes, Yvonne J. Vos, Jaap A. Bakker, Judith M.A. Verhagen, C. E. M. De Die-Smulders

Publikováno v: European Journal of Medical Genetics, 54(6), E542-E547. Elsevier
European journal of medical genetics, 54(6), E542-E547. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 54(6), e542-e547. Elsevier Masson

Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus.A retrospective survey was performed including patients with primary congenita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7139e852a25fdd456f70088a48d74089
https://doi.org/10.1016/j.ejmg.2011.06.005