This thesis is dedicated to my grandparents

More documents

Recommendations

Info

Printed: DCL Print & Sign Leegstraat 15, 9060 Zelzate, Belgium Tel.: +32 9 342 72 25 Fax.: +32 9 342 72 24 E-mail: info@dclsigns.be www.dclsigns.be Layout: Olivier M. Vanakker & Kris Hemeryck (DCL Print & Sign) ©2009 Olivier M. Vanakker, Ghent, Belgium No part of this book may be reproduced in any form, by print, photoprint, microfilm or any other means, without written permission of the publishers
Thesis submitted to fulfill the requirements for the degree of Doctor in Medical Sciences 2009 Promotor Prof. Dr. Anne De Paepe Co-Promotor Prof. Dr. Dirk Matthys Examination Committee Prof. Dr. Daniela Quaglino Department of Biomedical Sciences University of Modena and Reggio Emilia, Italy Prof. Dr. Jean-Marc Kaufman Department of Endocrinology Ghent University Hospital, Belgium Prof. Dr. Philippe Kesteleyn Department of Ophthalmology Ghent University Hospital, Belgium Prof. Dr. Jo Lambert Department of Dermatology Ghent University Hospital, Belgium Prof. Olivier Le Saux Department of Cell and Molecular Biology John A. Burns School of Medicine, Hawaii Prof. Dr. Koen Paemeleire Department of Neurology Ghent University Hospital, Belgium Prof. Dr. Johan Vande Walle (Chairman) Department of Paediatrics Ghent University Hospital, Belgium Dr. Lut Van Laer Center for Medical Genetics Ghent University Hospital, Belgium The research described in this thesis was conducted in the Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. From 1-10-2003 until 30-09-2007, Olivier Vanakker was an Aspirant of the Fund for Scientific Research – Flanders.
Page 1: Novel Clinical and Etiopathogenetic
Page 7 and 8: Table of contents o LIST OF ABBREVI
Page 9: Publication 8 Low serum vitamin K i
Page 12: TE tropoelastin TGF-β transforming
Page 16 and 17: the disorder with the xanthomatoses
Page 18 and 19: completeness. Non-Mendelian inherit
Page 20 and 21: to have an effect on the expression
Page 22 and 23: Figure 2 Atomic force microscopic i
Page 24 and 25: The metabolic turnover of elastin -
Page 26 and 27: McKusick’s categories became appa
Page 28 and 29: such as stronger polyanion properti
Page 30 and 31: Other negative regulators of uncont
Page 32 and 33: called reticular layer of the derm,
Page 34 and 35: the epidermis - [82-89] a reticulat
Page 36 and 37: Figure 10 Graphic representation of
Page 38 and 39: their central sight. It is however
Page 40 and 41: The histological structure of the h
Page 42 and 43: damage of submucosal arteries have
Page 44 and 45: Figure 15 Characteristics of the hu
Page 46 and 47: gene [215]. This interaction is sug
Page 48 and 49: Le Saux et al. addressed this hypot
Page 50 and 51: 1.3.7 Animal models An animal model
Page 52 and 53:
inflammatory drugs should be avoide
Page 54 and 55:
In our PXE clinic, all patients are
Page 56 and 57:
energy into an electrical signal, a
Page 58 and 59:
c/ pattern ERG (PERG) PERG is a ret
Page 60 and 61:
2.2.2.2 Mutation detection To deter
Page 62 and 63:
a/ general principles and terminolo
Page 65 and 66:
Chapter 3 Results o “Une accumula
Page 67 and 68:
MUTATION IN BRIEF Received 5 May 20
Page 69 and 70:
Clinical evaluation protocol 55 Nov
Page 71 and 72:
57 Novel Clinico-molecular Insights
Page 73 and 74:
Page 75 and 76:
Page 77 and 78:
Page 79:
Page 83 and 84:
ORIGINAL ARTICLE Mutation detection
Page 85 and 86:
ABCC6 mutations in pseudoxanthoma e
Page 87 and 88:
Page 89 and 90:
Page 91:
3.2 Innovative clinical aspects of
Page 94 and 95:
obtained from all patients and the
Page 96 and 97:
As serum tests for liver and kidney
Page 99:
Publication 4 Pseudoxanthoma elasti
Page 102 and 103:
IOVS, September 2007, Vol. 48, No.
Page 104 and 105:
Page 106 and 107:
Page 109:
Publication 5 Added value of infrar
Page 112 and 113:
Abstract Purpose: Pseudoxanthoma El
Page 114 and 115:
Patients and Methods Twenty-two pat
Page 116 and 117:
Peau d'orange, which, according to
Page 118 and 119:
Discussion Visualizing the PXE reti
Page 120 and 121:
3. Vanakker OM, Leroy BP, Coucke PJ
Page 122 and 123:
Figures 108
Page 125:
Publication 6 Heterozygous ABCC6 mu
Page 128 and 129:
Abstract Evidence is emerging that
Page 130 and 131:
Baseline demographic data (age, sex
Page 132 and 133:
Pat. S E X Current age (yrs) Stroke
Page 134 and 135:
providing a basis for future studie
Page 137:
3.3 Identification and etiopathogen
Page 140 and 141:
OM Vanakker et al. PXE-Like Disorde
Page 142 and 143:
Page 144 and 145:
Page 147:
Publication 8 Low serum vitamin K i
Page 150 and 151:
Abstract Soft-tissue mineralization
Page 152 and 153:
VKORC1 mutations - which both have
Page 154 and 155:
Results A. PXE-like syndrome patien
Page 156 and 157:
these findings are the direct conse
Page 158 and 159:
From our findings, we can conclude
Page 160 and 161:
26. Schurgers LJ, Geleijense J, Gro
Page 162 and 163:
Figure 2 IHC staining results for c
Page 164 and 165:
Figure 4 Transmission electron micr
Page 167:
Publication 9 An atypical case of p
Page 170 and 171:
Abstract In this case report, a pat
Page 172 and 173:
Case report and discussion A Caucas
Page 174 and 175:
like patients - presenting with ext
Page 176 and 177:
Figures Figure 1 Phenotypic charact
Page 178 and 179:
Figure 3 Immunohistochemical staini
Page 180 and 181:
the etiopathogenesis of which lead
Page 182 and 183:
4.1.2 Genotype-phenotype correlatio
Page 184 and 185:
procedure. Unfortunately, the histo
Page 186 and 187:
Peau d’orange could be observed i
Page 188 and 189:
a tool for molecular screening. The
Page 190 and 191:
angioid streaks in carriers, althou
Page 192 and 193:
causal genetic factor in these pati
Page 194 and 195:
subtle differences in fetuin-A stai
Page 196 and 197:
3/ Why are clotting abnormalities a
Page 198 and 199:
ongoing or being designed for the n
Page 201 and 202:
Summary o o “If others can see it
Page 203 and 204:
Samenvatting o “Dit Florentijnse
Page 205 and 206:
Résumé o “Le fils d’un eunuqu
Page 207 and 208:
References o 1. Rigal, D., Observat
Page 209 and 210:
47. Pasquali Ronchetti, I., et al.,
Page 211 and 212:
92. Akar, A., et al., Multiple kera
Page 213 and 214:
139. van den Berg, J.S., et al., Pr
Page 215 and 216:
186. Lao, T.T., B.N. Walters, and M
Page 217 and 218:
227. Miksch, S., et al., Molecular
Page 219 and 220:
272. Aessopos, A., D. Farmakis, and
Page 221 and 222:
316. Arrigo, T., et al., Testicular
Page 223 and 224:
365. Aessopos, A., et al., Pseudoxa
Page 225:
412. Worcester, E.M., et al., The e
Page 229 and 230:
Curriculum Vitae o o “It does tel
Page 231 and 232:
7/ O.M. Vanakker, B.P. Leroy, P.Cou
Page 233 and 234:
14/ O.M. Vanakker, L. Martin, D. Gh
Page 235 and 236:
clotting deficiency represents a no
Page 237 and 238:
Dankwoord o 223 Waar is de weg ? Er
Page 239 and 240:
alhoewel ik moet zeggen - ik heb je
show all

This thesis is dedicated to my grandparents

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?