Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Conny M.A. van Ravenswaaij"'
Autor:
Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij-Arts, Raoul C. Hennekam
Publikováno v:
European journal of medical genetics, 66(7):104754. Elsevier Masson SAS
European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (7), pp.104754. ⟨10.1016/j.ejmg.2023.104754⟩
European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (7), pp.104754. ⟨10.1016/j.ejmg.2023.104754⟩
International audience; Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of Eu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80f86e321faa2747a743e5105b4d414b
https://pure.amc.nl/en/publications/definition-and-clinical-variability-of-shank3related-phelanmcdermid-syndrome(b728fe2b-83e2-49d7-b696-846b60d89de8).html
https://pure.amc.nl/en/publications/definition-and-clinical-variability-of-shank3related-phelanmcdermid-syndrome(b728fe2b-83e2-49d7-b696-846b60d89de8).html
Publikováno v:
European journal of medical genetics, 66(5):104736. ELSEVIER SCIENCE BV
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
Autor:
A.M. van Eeghen, D. Stemkens, José Ramón Fernández-Fructuoso, A. Maruani, K. Hadzsiev, I.D.C. van Balkom, C.M.W. Gaasterland, M.J. Klein Haneveld, Klea Vyshka, A. Hugon, Norma Alhambra, Britt-Marie Anderlid, Stephanie Andres, Emmelien Aten, Rui Barbosa Guedes, Maria C. Bonaglia, Thomas Bourgeron, Monica Burdeus-Olavarrieta, Maya J. Carbin, Jennifer Cooke, Robert J. Damstra, Irenaeus F.M. de Coo, Stella Di Domenico, D. Gareth Evans, Andreas M. Grabrucker, Cecilia Gunnarson, Kinga Hadzsiev, Raoul C. Hennekam, Sarah Jesse, Sarina G. Kant, Sylvia A. Koza, Els Kuiper, Annemiek M. Landlust, Pablo Lapunzina, Eva Loth, Sahar Mansour, Anna Maruani, Teresa Mattina, Aušra Matulevičienė, Julián Nevado, Susanne Parker, Sandra Robert, Carlo Sala, Antonia San José Cáceres, Michael Schön, Kamilė Šiaurytė, Daphne Stemkens, Dominique Stiefsohn, Ann Swillen, Anne C. Tabet, Roberto Toro, Alison Turner, Ingrid D.C. van Balkom, Griet van Buggenhout, Agnies M. van Eeghen, Conny M.A. van Ravenswaaij-Arts, Sabrina van Weering, Chiara Verpelli, Stephane Vignes, Annick Vogels, Margreet Walinga
Publikováno v:
European Journal of Medical Genetics. 66:104747
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
Autor:
Marella A.A. Hoevenaars-van den Boom, Conny M.A. van Ravenswaaij, Mathijs P. J. Vervloed, Harry Knoors, Ronald J.C. Admiraal
Publikováno v:
American Journal of Medical Genetics. Part A, 140A, 851-862
American Journal of Medical Genetics. Part A, 140, 851-62
American Journal of Medical Genetics. Part A, 140, 8, pp. 851-62
American Journal of Medical Genetics. Part A, 140A, 8, pp. 851-862
American Journal of Medical Genetics. Part A, 140, 851-62
American Journal of Medical Genetics. Part A, 140, 8, pp. 851-62
American Journal of Medical Genetics. Part A, 140A, 8, pp. 851-862
Contains fulltext : 51382.pdf (Publisher’s version ) (Closed access) The behaviors and medical problems in 27 persons with CHARGE syndrome were studied, because it was hypothesized that their behavior might be partly dependent on the heterogeneous
Autor:
Johan R.M. Cruysberg, Conny M.A. van Ravenswaaij-Arts, Alfred Pinckers, Roberto Roddi, Han G. Brunner
Publikováno v:
American Journal of Medical Genetics. 82:201-205
Autor:
Jayne Y. Hehir-Kwa, Conny M.A. van Ravenswaaij, Eugène T P Verwiel, Rita J.M. Dirks, Steven Van Vooren, Albert Schinzel, Bert B.A. de Vries, Nicole de Leeuw, Anneke T. Vulto-van Silfhout
Publikováno v:
European Journal of Medical Genetics, 56, 471-4
European journal of medical genetics, 56(9), 471-474. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 56, 9, pp. 471-4
European journal of medical genetics, 56(9), 471-474. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 56, 9, pp. 471-4
The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca.net) is an online database initiated in 2003 that collects and provides detailed, curated clinical and molecular information on rare unbalanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f37d6dd62ce147d87802906ddb80f8dd
https://www.zora.uzh.ch/id/eprint/88260/
https://www.zora.uzh.ch/id/eprint/88260/
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
Autor:
Marjolijn C.J. Jongmans, Kim P. van der Donk, Lies H. Hoefsloot, Ingrid M.B.H. van de Laar, Conny M.A. van Ravenswaaij, Han G. Brunner, Ian Walpole, Yvonne M.C. Hendriks, Ronald J.C. Admiraal, Joke B. G. M. Verheij, Alex Magee
Publikováno v:
American Journal of Medical Genetics Part A, 146A(1), 43-50. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 146A, 43-50
American Journal of Medical Genetics. Part A, 146A, 1, pp. 43-50
American Journal of Medical Genetics. Part A, 146A(1), 43-50. Wiley
American Journal of Medical Genetics. Part A, 146A, 43-50
American Journal of Medical Genetics. Part A, 146A, 1, pp. 43-50
American Journal of Medical Genetics. Part A, 146A(1), 43-50. Wiley
Contains fulltext : 70271.pdf (Publisher’s version ) (Closed access) CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the CHD7 gene. Few familial cases of this syndrome have been reported and these were characterize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2929584bedd9fd34c667a73c57ff5cee
https://pure.eur.nl/en/publications/edcfbb71-c8ae-4511-a6fe-df3b04b1b653
https://pure.eur.nl/en/publications/edcfbb71-c8ae-4511-a6fe-df3b04b1b653