Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Autor: Demirdas S; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.).; European Reference Network ReCONNET, Ehlers Danlos Syndrome Working Group, Rotterdam, the Netherlands (S.D.)., van den Bersselaar LM; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Lechner R; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Bos J; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Alsters SIM; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Baars MJH; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Baas AF; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Baysal Ö; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., van der Crabben SN; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Dulfer E; Department of Genetics, University Medical Center Groningen, the Netherlands (E.D., E.O.)., Giesbertz NAA; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Helderman-van den Enden ATJM; Clinical Genetics, Maastricht University Medical Center, the Netherlands (A.T.J.M.H.-v.d.E.)., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, the Netherlands (Y.H.-H.)., Kempers MJE; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Komdeur FL; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.)., Loeys B; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Majoor-Krakauer D; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., Ockeloen CW; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., Overwater E; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.).; Department of Genetics, University Medical Center Groningen, the Netherlands (E.D., E.O.)., van Tintelen PJ; Department of Genetics, University Medical Center Utrecht, the Netherlands (A.F.B., N.A.A.G., P.J.v.T.)., Voorendt M; Department of Human Genetics, Radboud University Nijmegen Medical Center, the Netherlands (O.B., M.J.E.K., B.L., C.W.O., M.V.)., de Waard V; Department of Medical Biochemistry, Amsterdam University Medical Center, Amsterdam Cardiovascular Sciences, the Netherlands (V.d.W.)., Maugeri A; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.)., Brüggenwirth HT; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.)., van de Laar IMBH; Department of Clinical Genetics, Cardiovascular Institute, Erasmus Medical Center, University Medical Center, Rotterdam, the Netherlands (S.D., L.M.v.d.B., R.L., D.M.-K., H.T.B., I.M.B.H.v.d.L.).; European Reference Network for Rare Multisystemic Vascular Disease, Medium Sized Arteries Working Group, Rotterdam, the Netherlands (I.M.B.H.v.d.L.)., Houweling AC; Department of Human Genetics, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.M., A.C.H.).; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, the Netherlands (J.B., S.I.M.A., M.J.H.B., S.N.v.d.C., F.L.K., E.O., A.C.H.).

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Jun; Vol. 17 (3), pp. e003978. Date of Electronic Publication: 2024 Apr 16.

Comparability of different Z-score equations for aortic root dimensions in children with Marfan syndrome.

Autor: Rutten DWE; Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Aarts-Janssen IJH; Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Kempers MJE; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Reimer AG; Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Udink Ten Cate FEA; Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., Loeys BL; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Center for Medical Genetics, Antwerp University Hospital & University of Antwerp, Antwerp, Belgium., Slieker MG; Department of Pediatric Cardiology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatric Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands.

Publikováno v: Cardiology in the young [Cardiol Young] 2021 Dec; Vol. 31 (12), pp. 1962-1968. Date of Electronic Publication: 2021 Apr 12.

Neonatale screening op congenitale hypothyreoidie

Autor: Verkerk, PH, van Trotsenburg, ASP, Hoorweg - Nijman, JJG, oostdijk, W, van Tijn, DA, Kempers, MJE, van den Akker, Erica, Loeber, JG, Elvers, LH, Vulsma, T

Publikováno v: Nederlands Tijdschrift voor Geneeskunde, 158. Bohn Stafleu van Loghum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::1441f3a745c95bda51640c80f6d05d3a
https://pure.eur.nl/en/publications/a29e2e75-5553-4b1d-a33f-1bb56b93c2b5

Mutations in N -acetylglucosamine ( O -GlcNAc) transferase in patients with X-linked intellectual disability.

Autor: Willems AP; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Gundogdu M; Centre for Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, Scotland, United Kingdom., Kempers MJE; Department of Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands., Giltay JC; Department of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, The Netherlands., Pfundt R; Department of Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands., Elferink M; Department of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, The Netherlands., Loza BF; Department of Paediatrics, VieCuri Hospital, 5900 BX Venlo, The Netherlands., Fuijkschot J; Department of Paediatrics, Radboud University Medical Centre and Amalia Children's Hospital, 6500 HB Nijmegen, The Netherlands., Ferenbach AT; Centre for Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, Scotland, United Kingdom., van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, The Netherlands., van Aalten DMF; Centre for Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, Scotland, United Kingdom. Electronic address: dmfvanaalten@dundee.ac.uk., Lefeber DJ; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Electronic address: Dirk.Lefeber@Radboudumc.nl.

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2017 Jul 28; Vol. 292 (30), pp. 12621-12631. Date of Electronic Publication: 2017 Jun 05.

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