Citation
Visser, R. (2011, May 26). From NSD1 to Sotos syndrome : a genetic and functional analysis. Retrieved from https://hdl.handle.net/1887/17673
Version: Corrected Publisher’s Version
License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden Downloaded from: https://hdl.handle.net/1887/17673
Note: To cite this publication please use the final published version (if applicable).
From NSD1 to Sotos syndrome
A genetic and functional analysis
Remco Visser
ISBN: 978-90-9026104-1
Cover: Mount Fuji, Japan, January 2009, by Remco Visser Lay-out: Remco Visser
Printed by: GVO drukkers & vormgevers B.V.|Ponsen & Looijen
© 2011 R. Visser, Leiden, The Netherlands
All rights reserved. No parts of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopy, recording, or any in- formation storage or retrieval system, without prior written permission of the author.
From NSD1 to Sotos syndrome
A genetic and functional analysis
Proefschrift ter verkrijging van
de graad van Doctor aan de Universiteit Leiden, op gezag van Rector Magnificus prof. mr. P.F. van der Heijden,
volgens besluit van het College voor Promoties te verdedigen op donderdag 26 mei 2011
klokke 16.15 uur
door
Remco Visser geboren te Hillegom
in 1975
Prof. dr. H.A. Delemarre - van de Waal Prof. dr. E. Bakker
Aan mijn ouders,
Junko, Yuki en Miho
Chapter 4 Identification of a 3.0-kb major recombination hotspot in 85 patients with Sotos syndrome who carry a common 1.9-Mb microdeletion
Am J Hum Genet 2005; 76: 52-67
Chapter 5 Non-hotspot-related breakpoints of common deletions 117 in Sotos syndrome are located within destabilised
DNA regions
J Med Genet 2005; 42: e66
Chapter 6 Analysis of the NSD1 promoter region in patients with a 137 Sotos syndrome phenotype
J Hum Genet 2006; 51: 15-20
Chapter 7 RNF135 mutations are not present in patients with Sotos 149 syndrome-like features
Am J Med Genet A 2009; 149A: 806-808
Chapter 8 Genome-wide SNP array analysis in patients with features of 161 Sotos syndrome
Horm Res Paediatr 2010; 73: 265-274
Chapter 9 Sotos syndrome is associated with deregulation of the 183 MAPK/ERK-signaling pathway
Submitted
Chapter 10 Comprehensive genetic analysis of relevant four genes 215 in 49 patients with Marfan syndrome or Marfan-related
phenotypes
Am J Med Genet A 2006; 140: 1719-1725
Chapter 11 General discussion 233
Chapter 12 Summary 251
Chapter 13 Samenvatting 259
Curriculum vitae 267
List of publications 271
Dankwoord 277
