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1

Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers–Danlos syndrome

Rosanna Pallotta, Anne De Paepe, Tamara Ehresmann, Lieve Nuytinck, Paola Fusilli

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 107 KB

english, 2004

2

An interstitial deletion of chromosome 7 at band q21: A case report and review

Winnie Courtens, Stefan Vermeulen, Wim Wuyts, Ludwine Messiaen, Jan Wauters, Lieve Nuytinck, Nils Peeters, Katrien Storm, Frank Speleman, Markus M. Nöthen

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 291 KB

english, 2005

3

Bruck syndrome: neonatal presentation and natural course in three patients

J. G. Leroy, Lieve Nuytinck, Anne De Paepe, Magda De Rammelaere, Yves Gillerot, Alain Verloes, Bart Loeys, William De Groote

Journal:

Pediatric Radiology

Année:

1998

Langue:

english

Fichier:

PDF, 1.23 MB

english, 1998

4

Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing

Lieve Nuytinck, Bekir Sitki Sayli, Wettinck Karen, Anne De Paepe

Journal:

Prenatal Diagnosis

Année:

1999

Langue:

english

Fichier:

PDF, 118 KB

english, 1999

5

Osteoporosis-pseudoglioma syndrome

Dr. Anne de Paepe, Jules G. Leroy, Lieve Nuytinck, Françoise Meire, Jan Capoen

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 2.67 MB

english, 1993

6

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

Jules G. Leroy, Lieve Nuytinck, Jo Lambert, Jean-Marie Naeyaert, Geert R. Mortier

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 288 KB

english, 2007

7

Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers–Danlos syndrome type IV

Lieve Nuytinck, Anne De Paepe, Jean-Pierre Renard, Filip Adriaens, Jules Leroy

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.22 MB

english, 1994

8

Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

Katrina Mackay, Anne De Paepe, Lieve Nuytinck, Raymond Dalgleish

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 194 KB

english, 1994

9

Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV

Gerard Tromp, Anne De Paepe, Lieve Nuytinck, Swarna Madhatheri, Helena Kuivaniemi

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 234 KB

english, 1995

10

The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients

Fransiska Malfait, Paul Coucke, Sofie Symoens, Bart Loeys, Lieve Nuytinck, Anne De Paepe

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 198 KB

english, 2005

11

Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes

A. De Paepe, Lieve Nuytinck, Marc Raes, Jean-Pierre Fryns

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 400 KB

english, 1997

12

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers-Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

Colige, Alain, Nuytinck, Lieve, Hausser, Ingrid, van Essen, Anthonie J., Thiry, Marc, Herens, Christian, Ades, Lesley C., Malfait, Fransiska, Paepe, Anne De, Franck, Peter, Wolff, Gerhard, Oosterwijk,

Journal:

The Journal of Investigative Dermatology

Année:

2004

Langue:

english

Fichier:

PDF, 658 KB

english, 2004

13

Gene polymorphisms of Toll-like and related recognition receptors in relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae

Hans Verstraelen, Rita Verhelst, Lieve Nuytinck, Kristien Roelens, Els De Meester, Daniel De Vos, Martine Van Thielen, Rudi Rossau, Wim Delva, Ellen De Backer, Mario Vaneechoutte, Marleen Temmerman

Journal:

Journal of Reproductive Immunology

Année:

2009

Langue:

english

Fichier:

PDF, 146 KB

english, 2009

14

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Michael D. Briggs, Geert R. Mortier, William G. Cole, Lily M. King, Steven S. Golik, Jacky Bonaventure, Lieve Nuytinck, Anne De Paepe, Jules G. Leroy, Leslie Biesecker, Mark Lipson, William R. Wilcox,

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 679 KB

english, 1998

15

Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

Lieve Nuytinck, Margarida Freund, Lieven Lagae, Gerald E. Pierard, Trinh Hermanns-Le, Anne De Paepe

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 631 KB

english, 2000

16

A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency

Claudine M. De Praeter, Gerrit J. Gerwig, Ernst Bause, Lieve K. Nuytinck, Johannes F.G. Vliegenthart, Wilhelm Breuer, Johannis P. Kamerling, Marc F. Espeel, Jean-Jacques R. Martin, Anne M. De Paepe, N

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 839 KB

english, 2000

17

Substitution of glycine-661 by serine in the α1(I) and α2(1) chains of type I collagen results in different clinical and biochemical phenotypes

Lieve Nuytinck,Raymond Dalgleish,Loretta Spotila,Jean-Pierre Renard…

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 94 KB

english, 1996

18

Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations

Jarmo Körkkö, Leena Ala-Kokko, Anne De Paepe, Lieve Nuytinck, James Earley, Darwin J. Prockop1

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 443 KB

english, 1998

19

Genetic Linkage Between the Collagen Type VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features.

Naeyaert, Jean Marie, Nuytinck, Lieve, De Bie, Sylvia, Beele, Hilde, Kint, Andre, De Paepe, Anne

Journal:

The Journal of Investigative Dermatology

Année:

1995

Langue:

english

Fichier:

PDF, 2.73 MB

english, 1995

20

Mannose-binding lectin: laying the stepping stones from clinical research to personalized medicine

Nuytinck, Lieve, Shapiro, Fred

Journal:

Personalized Medicine

Année:

2004

Langue:

english

Fichier:

PDF, 270 KB

english, 2004

21

Urinary chitinase 3-like protein 1 for early diagnosis of acute kidney injury: a prospective cohort study in adult critically ill patients

De Loor, Jorien, Decruyenaere, Johan, Demeyere, Kristel, Nuytinck, Lieve, Hoste, Eric AJ, Meyer, Evelyne

Journal:

Critical Care (BioMed Central)

Année:

2016

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2016

22

Diagnosis of cardiac surgery-associated acute kidney injury: differential roles of creatinine, chitinase 3-like protein 1 and neutrophil gelatinase-associated lipocalin: a prospective cohort study

De Loor, Jorien, Herck, Ingrid, Francois, Katrien, Van Wesemael, Astrid, Nuytinck, Lieve, Meyer, Evelyne, Hoste, Eric A. J.

Journal:

Annals of Intensive Care

Année:

2017

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2017

23

Functional Mannose-Binding Lectin Haplotype Variants are Associated with Alzheimer's Disease

Sjölander, Annica, Minthon, Lennart, Nuytinck, Lieve, Vanmechelen, Eugeen, Blennow, Kaj, Nilsson, Staffan

Journal:

Journal of Alzheimer's Disease

Année:

2013

Langue:

english

Fichier:

PDF, 73 KB

english, 2013

24

Urinary cell cycle arrest biomarkers and chitinase 3-like protein 1 (CHI3L1) to detect acute kidney injury in the critically ill: a post hoc laboratory analysis on the FINNAKI cohort

Hoste, Eric A., Vaara, Suvi T., De Loor, Jorien, Haapio, Mikko, Nuytinck, Lieve, Demeyere, Kristel, PettilÃ¤, Ville, Meyer, Evelyne

Journal:

Année:

2020

Fichier:

PDF, 957 KB

2020