Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity

Autor: Nicole Corsten-Janssen, Conny M.A. van Ravenswaaij-Arts, Livia Kapusta

Publikováno v: International Journal of Cardiology: Heart & Vasculature, Vol 12, Iss C, Pp 21-25 (2016)

Background: CHARGE syndrome is a complex multiple congenital malformation disorder with variable expression that is caused by mutations in the CHD7 gene. Variable heart defects occur in 74% of patients with a CHD7 mutation, with an overrepresentation

Externí odkaz: https://doaj.org/article/46f4b8d6f6ca4f2cb5d4d923c1caa7f4

Editorial

Autor: Conny M.A. van Ravenswaaij-Arts, Ingrid D.C. van Balkom, Sarah Jesse, Maria C. Bonaglia

Publikováno v: European journal of medical genetics, 66(5):104736. ELSEVIER SCIENCE BV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14b488cc02e1bbd2a8b58c71b0ca480b
https://hdl.handle.net/11370/c7562186-f9aa-42f3-a015-0a8f0e683736

Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families

Autor: Marjolein H. Willemsen, Nicole de Leeuw, Sheela Nampoothiri, Eelco Dulfer, Conny M.A. van Ravenswaaij-Arts, M. V. Thampi, Renée J Zwanenburg, Trijnie Dijkhuizen

Publikováno v: OBM Genetics. 2:1-1

Background: Phelan-McDermid syndrome (PMS), or 22q13.3 deletion syndrome, is a neurodevelopmental disorder with an estimated prevalence of 1 in 10,000 to 20,000 newborns. It usually occurs de novo, but an unexpectedly high recurrence risk is observed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::98c3f475071463801ba1cf398a2bee84
https://doi.org/10.21926/obm.genet.1804050

Influences on heart rate variability in spontaneously breathing preterm infants

Autor: Gerard B.A. Stoelinga, Herman P. van Geijn, Joop P.L. van Amen, Conny M.A. van Ravenswaaij-Arts, Louis A.A. Kollée, Jeroen C.W. Hopman

Publikováno v: Early Human Development. 27:187-205

To investigate the influence of maturational and physiological factors on heart rate variability in spontaneously breathing very preterm infants (n = 29) a multiparametric study was performed during the first 3 days of life in infants born at a gesta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6822473cee8fc9e82a79545a1c8e5f49
https://doi.org/10.1016/0378-3782(91)90194-8

Diagnostic genome profiling in mental retardation

Autor: Lisenka E.L.M. Vissers, Erik Huys, Conny M.A. van Ravenswaaij-Arts, Ad Geurts van Kessel, Joris A. Veltman, Nicole de Leeuw, Han G. Brunner, Bert B.A. de Vries, Rolph Pfundt, Simon V. van Reijmersdal, Dominique Smeets, Erik A. Sistermans, Irene M. Janssen, Ton Feuth, Eric F.P.M. Schoenmakers, David A. Koolen, M.A.R. Leisink, Willy M. Nillesen

Publikováno v: American Journal of Human Genetics, 77, 606-16
American Journal of Human Genetics, 77, 4, pp. 606-16
De Vries, B B A, Pfundt, R, Leisink, M, Koolen, D A, Vissers, L E L M, Janssen, I M, Van Reijmersdal, S, Nillesen, W M, Huys, E H L P G, De Leeuw, N, Smeets, D, Sistermans, E A, Feuth, T, Van Ravenswaaij-Arts, C M A, Van Kessel, A G, Schoenmakers, E F P M, Brunner, H G & Veltman, J A 2005, ' Diagnostic genome profiling in mental retardation ', American journal of human genetics, vol. 77, no. 4, pp. 606-616 . https://doi.org/10.1086/491719
ResearcherID
American journal of human genetics, 77(4), 606-616. Cell Press

Contains fulltext : 49156.pdf (Publisher’s version ) (Closed access) Mental retardation (MR) occurs in 2%-3% of the general population. Conventional karyotyping has a resolution of 5-10 million bases and detects chromosomal alterations in approxima

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4785cc2251bde29beb36f205395aed94
https://doi.org/10.1086/491719