Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Hg, Dauwerse"'
Autor:
Mh, Breuning, Hg, Dauwerse, Fugazza G, Jj, Saris, Spruit L, Herman Wijnen, Tommerup N, Cb, Hagen, Imaizumi K, Kuroki Y, Mj, Den Boogaard, Jm, Pater, Ec, Mariman, Bc, Hamel, Himmelbauer H, Am, Frischauf, Stallings R, Gc, Beverstock, Gj, Ommen, Rc, Hennekam
Publikováno v:
Europe PubMed Central
The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5bc7bf7698e09ddad3635d0deb6de0c8
http://europepmc.org/abstract/med/8430691
http://europepmc.org/abstract/med/8430691
Autor:
Rutten JW; Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands; Department of Human Genetics Leiden University Medical Center Leiden The Netherlands., Dauwerse HG; Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands; Department of Human Genetics Leiden University Medical Center Leiden The Netherlands., Gravesteijn G; Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands., van Belzen MJ; Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands., van der Grond J; Department of Radiology Leiden University Medical Center Leiden The Netherlands., Polke JM; Neurogenetics Unit National Hospital for Neurology and Neurosurgery London United Kingdom., Bernal-Quiros M; Neurogenetics Unit National Hospital for Neurology and Neurosurgery London United Kingdom., Lesnik Oberstein SA; Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2016 Sep 28; Vol. 3 (11), pp. 844-853. Date of Electronic Publication: 2016 Sep 28 (Print Publication: 2016).
Autor:
Rutten JW; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Dauwerse HG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Peters DJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Goldfarb A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Venselaar H; NCMLS, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Haffner C; Intitute for Stroke and Dementia Research, Klinikum Der Universität München, Ludwig-Maximilians-University, Munich, Germany., van Ommen GJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Aartsma-Rus AM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Lesnik Oberstein SA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands lesnik@lumc.nl.
Publikováno v:
Brain : a journal of neurology [Brain] 2016 Apr; Vol. 139 (Pt 4), pp. 1123-35. Date of Electronic Publication: 2016 Feb 19.
Autor:
Rutten JW; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. j.w.rutten@lumc.nl., Klever RR; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. r.r.klever@lumc.nl., Hegeman IM; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. i.m.hegeman@lumc.nl., Poole DS; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands. d.poole@lumc.nl., Dauwerse HG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. j.g.dauwerse@lumc.nl.; Department of Clinical Genetics, K5-R, Leiden University Medical Center, PO Box 9600, 2300, RC, Leiden, The Netherlands. j.g.dauwerse@lumc.nl., Broos LA; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. l.a.m.broos@lumc.nl., Breukel C; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. c.breukel@lumc.nl., Aartsma-Rus AM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. a.m.aartsma-rus@lumc.nl., Verbeek JS; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. j.s.verbeek@lumc.nl., van der Weerd L; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. L.van_der_Weerd@lumc.nl.; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands. L.van_der_Weerd@lumc.nl., van Duinen SG; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. S.G.van_Duinen@lumc.nl., van den Maagdenberg AM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. A.M.J.M.van_den_Maagdenberg@lumc.nl.; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. A.M.J.M.van_den_Maagdenberg@lumc.nl., Lesnik Oberstein SA; Department of Clinical Genetics, K5-R, Leiden University Medical Center, PO Box 9600, 2300, RC, Leiden, The Netherlands. lesnik@lumc.nl.
Publikováno v:
Acta neuropathologica communications [Acta Neuropathol Commun] 2015 Dec 29; Vol. 3, pp. 89. Date of Electronic Publication: 2015 Dec 29.
Autor:
Knight MA; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20894-3708, USA. knightme@mail.nih.gov, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2008 Dec 15; Vol. 17 (24), pp. 3847-53. Date of Electronic Publication: 2008 Sep 18.
Autor:
van Koningsbruggen S; Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands. s.vankoningsbruggen@dundee.ac.uk, Straasheijm KR, Sterrenburg E, de Graaf N, Dauwerse HG, Frants RR, van der Maarel SM
Publikováno v:
Chromosoma [Chromosoma] 2007 Feb; Vol. 116 (1), pp. 53-64. Date of Electronic Publication: 2006 Nov 14.
Autor:
Kriek M; Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands., White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH
Publikováno v:
Journal of medical genetics [J Med Genet] 2004 Apr; Vol. 41 (4), pp. 249-55.
Autor:
Pirc-Danoewinata H; Children's Cancer Research Institute (CCRI), St. Anna Children's Hospital, Vienna, Austria., Dauwerse HG, König M, Chudoba I, Mitterbauer M, Jäger U, Breuning MH, Haas OA
Publikováno v:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2000 Oct; Vol. 29 (2), pp. 186-91.
Autor:
Petrij F; Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RC, Breuning MH, Peters DJ
Publikováno v:
American journal of medical genetics [Am J Med Genet] 2000 May 01; Vol. 92 (1), pp. 47-52.
Autor:
Petrij F; Departments of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands., Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH
Publikováno v:
Journal of medical genetics [J Med Genet] 2000 Mar; Vol. 37 (3), pp. 168-76.