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List of abbreviations o ABC ATP-binding cassette AFI autofluorescence imaging A(R)MD age-related macular degeneration AS angioid streaks ATP adenosine 5’-triphosphate BCVA best corrected visual acuity BrM Bruch membrane BMP bone morphogenetic protein CAD coronary artery disease CC choriocapillaries cSLO confocal scanning laser ophthalmoscope C(T) comet (tail) cMGP carboxylated matrix gla protein cOC carboxylated osteocalcin CTD connective tissue disease CVA cerebrovascular accident dHPLC denaturing high-performance liquid chromatography DNA desoxyribonucleic acid dpMGP desphosphorylated matrix gla protein ECM extracellular matrix ELISA enzyme-linked immunosorbent assay ELN elastin ERG electroretinography GAS-6 growth-arrest specific protein 6 GGCX gamma-glutamylcarboxylase IC intermittent claudication IFN-γ interferon γ IHC immunohistochemistry IRI infrared imaging LAC-PXE localized acquired cutaneous PXE LTBP latent TGF-β binding proteins MAGP microfibril-associated glycoprotein MGP matrix gla protein MLPA multiplex ligand probe amplification MRP multidrug resistance protein MVP mitral valve prolapse NBF nucleotide binding fold NEM-SG N-ethyl maleïnide S-glutathione NMD nonsense-mediated decay OMIM online Mendelian in man OC osteocalcin OPN osteopontin PAD peripheral artery disease Pd’O peau d’orange pMGP phosphorylated matrix gla protein POHS presumed ocular histoplasmosis syndrome PXE pseudoxanthoma elasticum RFI red-free imaging RPE retinal pigment epithelium RNA ribonucleic acid RT room temperature v
Page 1 and 2: Novel Clinical and Etiopathogenetic
Page 3: Thesis submitted to fulfill the req
Page 7 and 8: Table of contents o LIST OF ABBREVI
Page 9: Publication 8 Low serum vitamin K i
Page 15 and 16: Preface PSEUDOXANTHOMA ELASTICUM: H
Page 17 and 18: Chapter 1 Introduction o “My scie
Page 19 and 20: the synthesis of a single-stranded
Page 21 and 22: iology of elastic fibres is complex
Page 23 and 24: towards the physiological range. Co
Page 25 and 26: proteoglycans Proteoglycans are bui
Page 27 and 28: 1.3.1 Pathology The primary histolo
Page 29 and 30: A second important protein group im
Page 31 and 32: Disorders that may cause extraskele
Page 33 and 34: c/ clinical symptoms and evaluation
Page 35 and 36: Figure 9 Transverse section through
Page 37 and 38: d/ clinical signs and symptoms The
Page 39 and 40: Figure 13 Fundoscopic image of opti
Page 41 and 42: peripheral pulsations should be see
Page 43 and 44: phenomenon in their cohort of patie
Page 45 and 46: SG]), comparable to ABCC1 and 2 [20
Page 47 and 48: 1.3.3.3 Other phenotypes associated
Page 49 and 50: Disorder Main clinical and/or histo
Page 51 and 52: 1.3.8 Prognosis and treatment 1.3.8
Page 53 and 54: Chapter 2 Patients, materials and m
Page 55 and 56: 2.2 Methods 2.2.1 Clinical methods
Page 57 and 58: 1/ ERG to weak flash from the dark-
Page 59 and 60: engineering, Dossenheim, Germany) m
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etention of these homo- and heterod
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composition by attaching the approp
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In this paper, a comprehensive clin
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2 Vanakker et al. cardiovascular sy
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Patient 4 Vanakker et al. A total o
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6 Vanakker et al. 12-002 (II-3) 12-
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8 Vanakker et al. Clinical characte
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10 Vanakker et al. Patient presenti
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12 Vanakker et al. Lebwohl M, Schwa
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Publication 2 Mutation detection in
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622 Pfendner, Vanakker, Terry, et a
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Page 88 and 89:
Page 90 and 91:
Page 93 and 94:
The British Journal of Radiology, 7
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Visceral and testicular calcificati
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Visceral and testicular calcificati
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Pseudoxanthoma Elasticum with Gener
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4252 Audo et al. IOVS, September 20
Page 105 and 106:
Page 107:
Page 111 and 112:
Added Value of Infrared, Red-free a
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Introduction Pseudoxanthoma elastic
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Informed consent was obtained from
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In eight of the twenty-five carrier
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emnants of streaks persisted at the
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22. Delori FC, Goger DB, Dorey KC.
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Figure 1 From left to right and top
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Heterozygous ABCC6 mutations in isc
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Introduction Stroke, one of the lea
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The coding region and intron/exon b
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Despite thorough dermatological and
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15. Vanakker O, Leroy BP, Coucke P
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Pseudoxanthoma Elasticum-Like Pheno
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Table 1. Biochemical analysis resul
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Table 4. Clinical, ultrastructural,
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Nucleotide numbers are derived from
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Low serum vitamin K in PXE patients
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Introduction Soft-tissue calcificat
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Immunohistochemistry IHC was perfor
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Serum concentration of vitamin K. M
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found. Unlike PXE-like samples, PXE
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9. Wajih N, Borras T, Xue W, et al.
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Figures Figure 1 Sandwich ELISA and
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Figure 3 IHC staining for osteocalc
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Figure 5 Transmission electron micr
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An atypical case of pseudoxanthoma
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Introduction Pseudoxanthoma elastic
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Biochemical blood analysis, includi
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11. Tassabehji M, Metcalfe K, Hurst
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← Figure 2 Ophthalmologic feature
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Chapter 4 Discussion and future per
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Panel A exemplifies the p.R1141X mu
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discussion of sampling error - when
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4.2.2.1 Anatomical fundus injuries
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Because also in these individuals n
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4.2.4 Heterozygous carriers of 1 AB
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operative blood examination, a defi
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comparative research project. For t
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Indeed, in PXE patients no GGCX mut
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does not present an a priori proble
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not as forthright as one might have
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diagnostic capacities of limited or
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eeldvorming, die een duidelijke ver
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été utilisée jusqu'ici pour l'an
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25. Neldner, K., Struk B., Pseudoxa
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68. Vogel, A., U.W. Schnyder, and S
Page 212 and 213:
115. Pisani, M., et al., [Mottled h
Page 214 and 215:
162. Connell, J.L., Pseudoxanthoma
Page 216 and 217:
207. Ilias, A., et al., Loss of ATP
Page 218 and 219:
249. Lebwohl, M., et al., Diagnosis
Page 220 and 221:
292. Lommatzsch, A., et al., [Intra
Page 222 and 223:
342. Miller, R.L., et al., Testicul
Page 224 and 225:
389. Martin, L., et al., Heterozygo
Page 227:
Appendix o BALZER, Félix. Recherch
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October 2007 - present : scientific
Page 232 and 233:
5/ O.M. Vanakker, L. Martin, D. Ghe
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Pseudoxanthoma Elasticum. Annual me
Page 236 and 237:
22/ P. D. Turnpenny, O. M. Vanakker
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edoeling. Ongetwijfeld ben je tijde
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Virginie: het was telkens een verad
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This thesis is dedicated to my grandparents

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