Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

Autor: Mitter, Diana, Lemke, Johannes R., Platzer, Konrad, Jamra, Rami, Ploos van Amstel, Hans K., van der Smagt, Jasper J., Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Stevens, Servi J.C., Oberndorff, Katrin, Marcelis, Carlo L., Cogné, Benjamin, Vincent, Marie, Simonic, Ingrid, Hague, Jennifer, Park, Soo Mi

Publikováno v: Annals of Neurology, 84(2), 200-207. Wiley
Annals of Neurology, 84(2), 200. John Wiley and Sons Inc.

Objective: Developmental delay (DD) with favorable intellectual outcome and mild intellectual disability (ID) are mostly considered to be of complex genetic and environmental origin, but, in fact, often remain unclear. We aimed at proving our assumpt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3b9919e7726ef3fb1f269d725826e766
https://dspace.library.uu.nl/handle/1874/372145

Mutations in Severe, Type III von Willebrand’s Disease in the Dutch Population: Candidate Missense and Nonsense Mutations Associated with Reduced Levels of von Willebrand Factor Messenger RNA

Autor: Eikenboom, Jeroen C J, Ploos van Amstel, Hans K, Reitsma, Pieter H, Briët, Ernest

Publikováno v: Thrombosis and Haemostasis; January 1992, Vol. 68 Issue: 4 p448-454, 7p

Partial Protein S Gene Deletion in a Family With Hereditary Thrombophilia

Autor: Ploos van Amstel, Hans K., Huisman, Menno V., Reitsma, Pieter H., ten Cate, Jan Wouter, Bertina, Rogier M.

Publikováno v: Blood; February 1989, Vol. 73 Issue: 2 p479-483, 5p

Mortality Risk Associated With Truncating Founder Mutations in Titin.

Autor: Jansen M; Department of Genetics (M.J., A.F.B., A.S.U., H.K.P.v.A., E.A.M.H., D.D.), University Medical Center Utrecht, Utrecht University, the Netherlands., Baas AF; Department of Genetics (M.J., A.F.B., A.S.U., H.K.P.v.A., E.A.M.H., D.D.), University Medical Center Utrecht, Utrecht University, the Netherlands., van Spaendonck-Zwarts KY; Department of Clinical Genetics (K.Y.v.S.-Z., R.H.L.D., A.C.H.), Amsterdam University Medical Center, the Netherlands., Ummels AS; Department of Genetics (M.J., A.F.B., A.S.U., H.K.P.v.A., E.A.M.H., D.D.), University Medical Center Utrecht, Utrecht University, the Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (A.v.d.W., P.J.T.M.H.-v.d.E.)., Jongbloed JDH; Department of Genetics (J.D.H.J., E.T.H., J.P.v.T.), University Medical Centre Groningen, University of Groningen, the Netherlands., van Slegtenhorst MA; Department of Clinical Genetics (M.A.v.S., M.W.W.), Erasmus Medical Centre, Rotterdam, the Netherlands., Lekanne Deprez RH; Department of Clinical Genetics (K.Y.v.S.-Z., R.H.L.D., A.C.H.), Amsterdam University Medical Center, the Netherlands., Wessels MW; Department of Clinical Genetics (M.A.v.S., M.W.W.), Erasmus Medical Centre, Rotterdam, the Netherlands., Michels M; Department of Cardiology (M.M.), Erasmus Medical Centre, Rotterdam, the Netherlands., Houweling AC; Department of Clinical Genetics (K.Y.v.S.-Z., R.H.L.D., A.C.H.), Amsterdam University Medical Center, the Netherlands., Hoorntje ET; Department of Genetics (J.D.H.J., E.T.H., J.P.v.T.), University Medical Centre Groningen, University of Groningen, the Netherlands., Helderman-van den Enden PJTM; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (A.v.d.W., P.J.T.M.H.-v.d.E.)., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre, the Netherlands (D.Q.C.M.B.-S.)., Peter van Tintelen J; Department of Genetics (J.D.H.J., E.T.H., J.P.v.T.), University Medical Centre Groningen, University of Groningen, the Netherlands.; Durrer Center for Cardiovascular Research, Netherlands Heart Institute, Utrecht, the Netherlands (J.P.v.T., F.W.A.)., van den Berg MP; Department of Cardiology (M.P.v.d.B.), University Medical Centre Groningen, University of Groningen, the Netherlands., Wilde AAM; Department of Cardiology (A.A.M.W.), Amsterdam University Medical Center, the Netherlands., Ploos van Amstel HK; Department of Genetics (M.J., A.F.B., A.S.U., H.K.P.v.A., E.A.M.H., D.D.), University Medical Center Utrecht, Utrecht University, the Netherlands., Hennekam EAM; Department of Genetics (M.J., A.F.B., A.S.U., H.K.P.v.A., E.A.M.H., D.D.), University Medical Center Utrecht, Utrecht University, the Netherlands., Asselbergs FW; Division of Heart and Lungs, Department of Cardiology (F.W.A.), University Medical Center Utrecht, Utrecht University, the Netherlands.; Durrer Center for Cardiovascular Research, Netherlands Heart Institute, Utrecht, the Netherlands (J.P.v.T., F.W.A.).; Institute of Cardiovascular Science (F.W.A.) and Health Data Research UK, Institute of Health Informatics (F.W.A.), University College London, United Kingdom., Sijbrands EJG; Department of Internal Medicine (E.J.G.S.), Erasmus Medical Centre, Rotterdam, the Netherlands., Dooijes D; Department of Genetics (M.J., A.F.B., A.S.U., H.K.P.v.A., E.A.M.H., D.D.), University Medical Center Utrecht, Utrecht University, the Netherlands.

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2019 May; Vol. 12 (5), pp. e002436.