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Onderzoeker
Lieve Nuytinck
Profiel
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Publicaties
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Prijzen & Erkenningen
126
Resultaten
2024
Data standardisation within pediatrics : BPCRN's analysis of trials identifying cross-cutting data points
Eva Degraeuwe
Daphné Christiaens
Anando Sen
SIMON VANDERSCHAEGHE
Laura Persijn
Levi Hoste
Lieve Nuytinck
Avril Palmeri
Johan Vande Walle
Ann Raes
et al.
C3
Conferentie
2024
Long live the BPCRN : 2024 update on the (revived) BPCRN
Levi Hoste
An Spiessens
Laura Persijn
Eva Degraeuwe
Ann Raes
Johan Vande Walle
Lieve Nuytinck
C3
Conferentie
2024
Nurturing upcoming investigators within pediatric pharmacology : European Mentorship Program development and launch within conect4children (c4c)
Eva Degraeuwe
Laura Persijn
Tessa van der Geest
Levi Hoste
Lieve Nuytinck
Ann Raes
Ricardo Fernandes
Saskia de Wildt
Johan Vande Walle
Mark Turner
C3
Conferentie
2024
The European Paediatric Clinical Trials Network conect4children (c4c) : 6-year progress report of paediatric trial facilitation within Belgium : update of the Belgian Paediatric Clinical Research Network (BPCRN)
Levi Hoste
Eva Degraeuwe
Laura Persijn
An Spiessens
Mark Turner
Lieve Nuytinck
Annelies De Maré
Daphné Christiaens
Ann Raes
Karel Allegaert
et al.
C3
Conferentie
2024
The development of the Belgian paediatric clinical trial network
Eva Degraeuwe
Laura Persijn
Lieve Nuytinck
Karel Allegaert
Leen De Taeye
Elke Gasthuys
Daphné Christiaens
Sevasti Karamaria
Ann Raes
Mark Turner
et al.
A1
Artikel in een tijdschrift
in
ACTA CLINICA BELGICA
2024
2023
Advancing scientific progression and multistakeholder mentorship in the Young Investigators Community (YIC)
Eva Degraeuwe
Laura Persijn
Tessa Van der Geest
Lieve Nuytinck
Johan Vande Walle
C3
Conferentie
2023
An update of the Belgian Pediatric Clinical Trial Network (BPCRN)
Eva Degraeuwe
Laura Persijn
Annelies De Maré
Lieve Nuytinck
Daphné Christiaens
Ann Raes
Johan Vande Walle
Karel Allegaert
C3
Conferentie
2023
An update on the challenges of conducting pediatric clinical trials : 15 years of progress since EMA regulation implementation
Eva Degraeuwe
Pirkko Lepola
Mark Turner
Kim Jennings
Lieve Nuytinck
Ann Raes
Karel Allegaert
Fenna Mahler
Johan Vande Walle
C3
Conferentie
2023
Development and performance of the c4c national clinical trial networks for optimizing pediatric trial facilitation
Eva Degraeuwe
Tessa van der Geest
Laura Persijn
Lieve Nuytinck
Ann Raes
Mark Turner
Ricardo M. Fernandes
Johan Vande Walle
Saskia N. de Wildt
[missing] IMI2 project conect4children (c4c) consortium, including National Hubs/Networks Belgian Pediatric Clinical Research Network (BPCRN) (Belgium) and Pedmed-NL (Netherlands)
A1
Artikel in een tijdschrift
in
FRONTIERS IN PEDIATRICS
2023
Potential of urine biomarkers CHI3L1, NGAL, TIMP-2, IGFBP7, and combinations as complementary diagnostic tools for acute kidney injury after pediatric cardiac surgery : a prospective cohort study
Wim Vandenberghe
Jorien De Loor
Katrien Francois
Kristof Vandekerckhove
INGRID HERCK
Johan Vande Walle
Harlinde Peperstraete
Thierry Bové
Daniël De Wolf
Lieve Nuytinck
et al.
A1
Artikel in een tijdschrift
in
DIAGNOSTICS
2023
The European Pediatric Clinical Trials Network Conect4children (c4c) : 5-year report of activities within Belgium
Eva Degraeuwe
Laura Persijn
Mark Turner
Lieve Nuytinck
Annelies De Maré
Daphné Christiaens
Ann Raes
Karel Allegaert
Johan Vande Walle
C3
Conferentie
2023
The European Pediatric Clinical Trials Network conect4children (c4c) : 5-year report of activities within Belgium
Eva Degraeuwe
Laura Persijn
Mark Turner
Lieve Nuytinck
Annelies De Maré
Daphné Christiaens
Ann Raes
Karel Allegaert
Johan Vande Walle
C3
Conferentie
2023
The Young Investigators Community (YIC) Workshop : prospects for advancement in education
Eva Degraeuwe
Laura Persijn
Tessa Van der Geest
Lieve Nuytinck
Johan Vande Walle
C3
Conferentie
2023
The challenges in performing pediatric clinical trials : an update after 15-years of EMA regulation
Eva Degraeuwe
Pirkko Lepola
Mark Turner
Kim Jennings
Lieve Nuytinck
Ann Raes
Karel Allegaert
Johan Vande Walle
C3
Conferentie
2023
The progress of young clinical trajectories in Europe and Canada
Eva Degraeuwe
Laura Persijn
Tessa Van der Geest
Ann Raes
Lieve Nuytinck
Berent Prakken
Johan Vande Walle
C3
Conferentie
2023
Update of the Belgian Pediatric Clinical Trial Network (BPCRN)
Johan Vande Walle
Eva Degraeuwe
Laura Persijn
Annelies De Maré
Daphné Christiaens
Ann Raes
Karel Allegaert
Lieve Nuytinck
C3
Conferentie
2023
Update on the evolution of data standardisation in a European pediatric setting
Eva Degraeuwe
Laura Persijn
Lieve Nuytinck
Ann Raes
Johan Vande Walle
C3
Conferentie
2023
Young Investigators Interactive Workshop : progression and next steps
Eva Degraeuwe
Laura Persijn
Tessa Van der Geest
Lieve Nuytinck
Ann Raes
Johan Vande Walle
C3
Conferentie
2023
conect4children (c4c) European Communities and future perspectives
Eva Degraeuwe
Laura Persijn
Tessa Van Der Geest
Lieve Nuytinck
Ann Raes
Johan Van de Walle
Mark Turner
C3
Conferentie
2023
2022
A broad survey to determine paediatric clinical trial requirements
Laura Persijn
Lieve Nuytinck
Eva Degraeuwe
Elena Levtchenko
Nicholas Deconinck
Etienne Sokal
Saskia Vande Velde
Olivier Gilliaux
Ann Raes
Mark Turner
et al.
C3
Conferentie
2022
A broad survey to determine paediatric clinical trial requirements within Belgium
Johan Vande Walle
Ann Raes
Lieve Nuytinck
Eva Degraeuwe
Daphné Christiaens
Laura Persijn
C3
Conferentie
2022
A framework for interprofessional collaborations towards sustainable paediatric drug development
Eva Degraeuwe
Daphné Christiaens
Laura Persijn
Ricardo M Fernandes
Lieve Nuytinck
Tessa van der Geest
Mark Turner
Ann Raes
Johan Vande Walle
C3
Conferentie
2022
BPCRN : the Belgium businessplan
Laura Persijn
Lieve Nuytinck
Eva Degraeuwe
Ann Raes
Johan Vande Walle
C3
Conferentie
2022
Belgium pediatric Clinical research network
Johan Vande Walle
Laura Persijn
Sevasti Karamaria
Ann Raes
Daphné Christiaens
Lieve Nuytinck
Eva Degraeuwe
Karel Allegaert
C3
Conferentie
2022
Challenges of creating a patient engagement group in a pediatric setting
Eva Degraeuwe
Maria Cavaller
Laura Persijn
Elke Gasthuys
Evelien Snauwaert
Lieve Nuytinck
Johan Vande Walle
Ann Raes
C3
Conferentie
2022
Controlling the flood of study feasibilities
Eva Degraeuwe
Laura Persijn
Lieve Nuytinck
Elena Levtchenko
Nicholas Deconinck
Etienne Sokal
Saskia Vande Velde
Olivier Gilliaux
Karl Logghe
Ann Raes
et al.
C3
Conferentie
2022
Investing in sustainable European paediatric trial networks : the value of a Young Investigator Community
Eva Degraeuwe
Tessa van der Geest
Ricardo Fernandes
Paul Malenfant
Lieve Nuytinck
Elke Gasthuys
Ann Raes
Johan Vande Walle
Régis Hankard
Mark Turner
C3
Conferentie
2022
Paediatric clinical trial needs and requirements within Belgium
Eva Degraeuwe
Laura Persijn
Lieve Nuytinck
Elena Levtchenko
Nicolas Deconinck
Etienne Sokal
Saskia Vande Velde
Olivier Gillaux
Karl Logghe
ANN RAES
et al.
C3
Conferentie
2022
Pediatric drug development in Europe : Innovative medecines initiative, Connect for children project
Johan Vande Walle
Lieve Nuytinck
Laura Persijn
Eva Degraeuwe
C3
Conferentie
2022
The European paediatric clinical trials network conect4children : activities of the Belgium national network and its progression
Eva Degraeuwe
Laura Persijn
Lieve Nuytinck
Elena Levtchenko
Nicholas Deconinck
Etienne Sokal
Saskia Vande Velde
Olivier Gilliaux
Karl Logghe
Ann Raes
et al.
C3
Conferentie
2022
The flood of study feasibilities and the value of a centralized approach
Eva Degraeuwe
Laura Persijn
Lieve Nuytinck
Elena Levtchenko
Nicolas Deconinck
Etienne Sokal
Saskia Vande Velde
Olivier Gilliaux
Karl Logghe
ANN RAES
et al.
C3
Conferentie
2022
The sustainable model for facilitating and improving pediatric clinical trials in Belgium
Laura Persijn
Annelies De Maré
Lieve Nuytinck
Eva Degraeuwe
Ann Raes
Johan Vande Walle
C3
Conferentie
2022
2021
C4C et structuration de la recherche clinique en néphrologie pédiatrique
Eva Degraeuwe
Johan Vande Walle
Régis Hankard
Lieve Nuytinck
C3
Conferentie
2021
Early impact of severe acute respiratory syndrome coronavirus 2 on pediatric clinical research : a Pan-European and Canadian snapshot in time
Olivier L. Mantha
Florence Flamein
Mark Turner
Ricardo M. Fernandes
Régis Hankard
Ruth Ladenstein
Andrea Mikolasek
Daphné Christiaens
Eva Degraeuwe
Johan Vande Walle
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF PEDIATRICS
2021
European paediatric clinical trial networks beyond the Atlantic : the collaboration between I-ACT for Children (US) and the Belgian National Network
Eva Degraeuwe
Mark Turner
Lieve Nuytinck
Daphné Christiaens
Elke Gasthuys
Collin Hovinga
Callie Haeton
Dinah Storm
Johan Vande Walle
C3
Conferentie
2021
How to improve paediatric clinical trial design : a sponsor’s perspective
Eva Degraeuwe
Lieve Nuytinck
Elke Gasthuys
Ann Raes
Johan Vande Walle
Mark Turner
C3
Conferentie
2021
How to perform feasibility analysis for the POV studies
Eva Degraeuwe
Tessa van der Geest
Lieve Nuytinck
Johan Vande Walle
C3
Conferentie
2021
Interregional internationlisation initiative for research group paediatrics and paediatric nephrology
Eva Degraeuwe
Ann Raes
Kristof Vandenkerckhove
Joke Dehoorne
Elke Gasthuys
Lieve Nuytinck
Evelien Snauwaert
Johan Vande Walle
C3
Conferentie
2021
Investing in sustainable Pediatric European Trial Networks : the value of a young investigator’s community
Eva Degraeuwe
Tessa Van der Geest
Ricardo Fernandes
Paul Malenfant
Lieve Nuytinck
Elke Gasthuys
Ann Raes
Mark Turner
Johan Vande Walle
Régis Hankard
C3
Conferentie
2021
Paediatric adaptations for clinical trial site preparation in pharmacological research
Eva Degraeuwe
Lieve Nuytinck
Elke Gasthuys
Ann Raes
Johan Vande Walle
Mark Turner
C3
Conferentie
2021
Paediatric adaptations in the ethical committee and national authority approval process for pharmacological research
Eva Degraeuwe
Lieve Nuytinck
Elke Gasthuys
Ann Raes
Johan Vande Walle
Mark Turner
C3
Conferentie
2021
Paediatric pharmacological development through a European clinical trial network conect4children (c4c) : activities of the Belgian National Network and its progression
Eva Degraeuwe
Mark Turner
Lieve Nuytinck
Daphné Christiaens
Simon Vanderschaeghe
Elke Gasthuys
Sevasti Karamaria
Catherine Van Der Straeten
Johan Vande Walle
C3
Conferentie
2021
Potential opportunities for the National Hub Network : gap analysis by the Belgian National Hub
Eva Degraeuwe
Johan Vande Walle
Lieve Nuytinck
C3
Conferentie
2021
The European Paediatric Clinical Trials Network beyond the Atlantic : the collaboration between I-ACT for Children (US) and European Network Activity
Eva Degraeuwe
Leen De Taeye
Mark Turner
Lieve Nuytinck
Daphné Christiaens
Elke Gasthuys
Collin Hovinga
Christina Stanley
Johan Vande Walle
C3
Conferentie
2021
The European Paediatric Clinical Trials Network conect4children : activities of the Belgium National Network and its progression
Eva Degraeuwe
Leen De Taeye
Mark Turner
Lieve Nuytinck
Daphné Christiaens
Simon Vanderschaeghe
Elke Gasthuys
Sevasti Karamaria
Catherine Van Der Straeten
Johan Vande Walle
C3
Conferentie
2021
The European Paediatric Clinical Trials Network conect4children : activities of the Belgium National Network and its progression
Eva Degraeuwe
Johan Vande Walle
Lieve Nuytinck
Ann Raes
C3
Conferentie
2021
c4c : NH performance and finance presentation
Eva Degraeuwe
Lieve Nuytinck
Mark Turner
Ricardo Fernandes
Johan Vande Walle
C3
Conferentie
2021
2020
Conect4children (c4c) : National Hub Belgium activities and organisation
Eva Degraeuwe
Johan Vande Walle
Lieve Nuytinck
Leen De Taeye
Daphné Christiaens
Lezing / Voordracht
2020
EPTRI Belgian Joint Research Unit : harmonisation and concertation of paediatric research in Belgium to ensure better and safer healthcare for children
Leen De Taeye
Karel Allegaert
Anne Smits
Pierre Van Damme
Thierry Schurmans
Marie-Christine Seghaye
Elke Smits
Etienne Sokal
Lieve Nuytinck
Johan Vande Walle
C3
Conferentie
2020
Evaluating risk, safety and efficacy of novel reproductive techniques and therapies through the EuroGTP II risk assessment tool
Veerle Provoost
Annelies Tolpe
Rita Piteira
Ricardo Casaroli-Marano
Kelly Tilleman
Anna Vilarrodona
A. Rita Piteira
Elba Agustí
Elisabet Tahull
Esteve Trias
et al.
A1
Artikel in een tijdschrift
in
HUMAN REPRODUCTION
2020
SafePedrug / BPCRN + Belgium pediatric clinical research network : the next step in pediatric drug research
Johan Vande Walle
Sevasti Karamaria
Lien Dossche
Lieve Nuytinck
Leen De Taeye
C3
Conferentie
2020
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
Eric Hoste
[missing] The FINNAKI Study Group
Suvi T. Vaara
Jorien De Loor
Mikko Haapio
Lieve Nuytinck
Kristel Demeyere
Ville Pettilä
Evelyne Meyer
A1
Artikel in een tijdschrift
in
CRITICAL CARE
2020
2019
SAFEPEDRUG : safer pediatric drugs for children: what have we learned?
Elke Gasthuys
Johan Vande Walle
Lien Dossche
Lieve Nuytinck
Robin Michelet
An Vermeulen
Sevasti Karamaria
C3
Conferentie
2019
Setting up a Belgian paediatric clinical research network
Johan Vande Walle
Leen De Taeye
Elke Gasthuys
Daphne Christaens
Sevasti Karamaria
Lieve Nuytinck
A2
Artikel in een tijdschrift
in
BELGIAN JOURNAL OF PAEDIATRICS
2019
Survey by TEDDY European Network of Excellence for Paediatric Clinical Research demonstrates potential for Europe‐wide trials
Lucia Ruggieri
Donato Bonifazi
Annalisa Landi
Fedele Bonifazi
Franco Bartoloni
Mary Costello
Maria Grazia Felisi
Elke Gasthuys
Anila Godo
Federico Martinon Torres
et al.
A1
Artikel in een tijdschrift
in
ACTA PAEDIATRICA
2019
2018
Le project Européen c4c
Johan Vande Walle
Franz Schaefer
Elke Gasthuys
Lieve Nuytinck
C3
Conferentie
2018
Vestibular infant screening in Flanders
Leen Maes
Sarie Martens
Saartje Vanaudenaerde
Marieke Sucaet
Cleo Dhondt
Alexandra De Kegel
Mieke De Bock
Kristel Boelaert
Pieter Bolle
Lieve Nuytinck
et al.
C3
Conferentie
2018
2017
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
Jorien De Loor
INGRID HERCK
Katrien Francois
ASTRID VAN WESEMAEL
Lieve Nuytinck
Evelyne Meyer
Eric Hoste
A1
Artikel in een tijdschrift
in
ANNALS OF INTENSIVE CARE
2017
Vestibular infant screening-Flanders
Leen Maes
Cleo Dhondt
Alexandra De Kegel
Mieke De Bock
Kristel Boelaert
Pieter Bolle
Lieve Nuytinck
Ingeborg Dhooge
C3
Conferentie
2017
2016
Urinary chitinase 3-like protein 1 for early diagnosis of acute kidney injury : a prospective cohort study in adult critically ill patients
Jorien De Loor
Johan Decruyenaere
Kristel Demeyere
Lieve Nuytinck
Eric Hoste
Evelyne Meyer
A1
Artikel in een tijdschrift
in
CRITICAL CARE
2016
2013
Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients
Filomeen Haerynck
JM Mahachie John
Kristel Van Steen
Petra Schelstraete
Sabine Van daele
Bart Loeys
Mira Van Thielen
I De Canck
Lieve Nuytinck
Frans De Baets
A1
Artikel in een tijdschrift
in
HUMAN IMMUNOLOGY
2013
2009
Gene polymorphisms of Toll-like and related recognition receptors relation to the vaginal carriage of Gardnerella vaginalis and Atopobium vaginae
Hans Verstraelen
Rita Verhelst
Lieve Nuytinck
Kristien Roelens
Els De Meester
Daniella De Vos
Martine Van Thielen
Rudi Rossau
Wim Delva
Ellen De Backer
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF REPRODUCTIVE IMMUNOLOGY
2009
2007
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene
Juliaan Leroy
Lieve Nuytinck
Jo Lambert
Jean-Marie Naeyaert
Geert Mortier
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2007
Extremes of L-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene
M Cedzynski
Lieve Nuytinck
APM Atkinson
A St Swierzko
K Zeman
J Szemraj
A Szala
ML Turner
DC Kilpatrick
A1
Artikel in een tijdschrift
in
CLINICAL AND EXPERIMENTAL IMMUNOLOGY
2007
Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis and may have an added value in prediction models
Bert Vander Cruyssen
Lieve Nuytinck
Filip De Keyser
C3
Conferentie
2007
2006
Polymorphisms in the ficolin 1 gene (Fcn1) are associated with susceptibility to the development of rheumatoid arthritis
Bert Vander Cruyssen
Lieve Nuytinck
Filip De Keyser
C3
Conferentie
2006
Role of mannose-binding lectin (MBL2) genotyping in predicting the risk of recurrent otitis media (ROM)
Lieve Nuytinck
Els De Meester
Martine Van Thielen
Paul Govaerts
A1
Artikel in een tijdschrift
in
ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY
2006
2005
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
Franki Speleman
Markus Nothen
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2005
INNO-LiPA MBL2: a validated genotyping assay for mannose-binding lectin 2 (MBL-2)
M Duhamel
M Van Thielen
K De Vreese
M Blaser
F Hustaert
R Steffensen
K Varming
I De Canck
Lieve Nuytinck
C3
Conferentie
2005
Mannose-binding lectin (MBL) genetic susceptibility for Alzheimer's disease
Lieve Nuytinck
M Palmer
S Schraen-Maschke
M Duhamel
M Van Thielen
T Van De Casteele
C3
Conferentie
2005
Mannose-binding lectin polymorphisms in rheumatoid arthritis and the associations with radiological progression rate and serological markers
Leen De Rycke
Isabelle Peene
Elli Kruithof
T Van De Casteele
Lieve Nuytinck
Eric Veys
Filip De Keyser
C3
Conferentie
2005
Mannose-binding lectin polymorphisms in rheumatoid arthritis and the associations with radiological progression rate and serological markers
Leen De Rycke
Isabelle Peene
Elli Kruithof
T Van De Casteele
Lieve Nuytinck
Eric Veys
Filip De Keyser
C3
Conferentie
2005
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
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2005
2004
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
Bart Loeys
Julie De Backer
Petra Van Acker
Karen Wettinck
G PALS
Lieve Nuytinck
Paul Coucke
Anne De Paepe
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2004
Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome
R PALLOTTA
T EHRESMANN
P FUSILLI
Anne De Paepe
Lieve Nuytinck
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
2004
Met > Val substitution in a highly conserved region of the pro-alpha 1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype
Sofie Symoens
Lieve Nuytinck
E LEGIUS
Fransiska Malfait
Paul Coucke
Anne De Paepe
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2004
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene
A COLIGE
Lieve Nuytinck
I HAUSSER
AJ VAN ESSEN
M THIRY
C HERENS
LC ADES
Fransiska Malfait
Anne De Paepe
P FRANCK
et al.
A1
Artikel in een tijdschrift
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
2004
2003
The molecular basis of classical Ehlers-Danlos Syndrome (EDS).
A de Paepe
F Malfait
S Symoens
B Loeys
Lieve Nuytinck
P Coucke
C3
Conferentie
2003
The molecular basis of classical Ehlers-Danlos syndrome (EDS)
F Malfait
P Coucke
S Symoens
Lieve Nuytinck
A De Paepe
C3
Conferentie
2003
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphlism database
G COLLOD-BEROUD
S LE BOURDELLES
L ADES
L ALA-KOKKO
P BOOMS
M BOXER
A CHILD
P COMEGLIO
Anne De Paepe
JC HYLAND
et al.
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
2003
2002
A non-glycine mutation in the C-propeptide of the alpha1(I) collagen chain causes mild Osteogenesis imperfecta and EDS-like features
Sofie Symoens
Lieve Nuytinck
Paul Coucke
Bart Loeys
E Legius
Anne De Paepe
C3
Conferentie
2002
Acute intramural haematoma of the coeliac artery.
HJ KRUSE
M WEISE
Lieve Nuytinck
Anne De Paepe
SM SCHELLONG
A1
Artikel in een tijdschrift
in
VASA-JOURNAL OF VASCULAR DISEASES
2002
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome
C Giunta
Lieve Nuytinck
M Raghunath
I Hausser
Anne De Paepe
B Steinmann
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS
2002
Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).
Bart Loeys
Lieve Nuytinck
Petra Van Acker
SOPHIE WALRAEDT
M BONDUELLE
K SERMON
B HAMEL
A SANCHEZ
Ludwine Messiaen
Anne De Paepe
A1
Artikel in een tijdschrift
in
PRENATAL DIAGNOSIS
2002
2001
A newborn with microphtalmia and pulmonary hypoplasia: Matthew-Wood syndrome confirmed?
Bart Loeys
Piet Vanhaesebrouck
Lieve Nuytinck
Geert Mortier
C3
Conferentie
2001
Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene.
T JANSEN
Anne De Paepe
Lieve Nuytinck
P ALTMEYER
A1
Artikel in een tijdschrift
in
BRITISH JOURNAL OF DERMATOLOGY
2001
Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men.
Inge Van Pottelbergh
Stefan Goemaere
Lieve Nuytinck
Anne De Paepe
Jean Kaufman
A1
Artikel in een tijdschrift
in
OSTEOPOROSIS INTERNATIONAL
2001
Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.
R GARDELLA
Lieve Nuytinck
S BARLATI
Petra Van Acker
G TADINI
Anne De Paepe
M COLOMBI
A1
Artikel in een tijdschrift
in
CLINICAL AND EXPERIMENTAL DERMATOLOGY
2001
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
Bart Loeys
Lieve Nuytinck
Isabelle Delvaux
Sylvia De Bie
Anne De Paepe
A1
Artikel in een tijdschrift
in
ARCHIVES OF INTERNAL MEDICINE
2001
Heritable collagen disorders: From genotype to phenotype.
Anne De Paepe
Lieve Nuytinck
A1
Artikel in een tijdschrift
in
ACTA CLINICA BELGICA
2001
Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome.
A MEGARBANE
MM RUCHOUX
Bart Loeys
N AYOUB
Lieve Nuytinck
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS
2001
2000
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.
Claudine De Praeter
GJ GERWIG
E BAUSE
Lieve Nuytinck
J VLIEGENTHART
W BREUER
JP KAMERLING
Marc Espeel
J MARTIN
Anne De Paepe
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2000
A novel disorder in a newborn caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
JFG Vliegenthart
Claudine De Praeter
GG Gerwig
E Bause
Lieve Nuytinck
W Breuer
JP Kamerling
Marc Espeel
JJR Martin
Anne De Paepe
et al.
C3
Conferentie
2000
Acrogeria of the Gottron type in a mother and son
M Blaszczyk
Anne De Paepe
Lieve Nuytinck
M Glinska-Ferenz
S Jablonska
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF DERMATOLOGY
2000
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.
Lieve Nuytinck
M FREUND
L LAGAE
GE PIERARD
T HERMANNS-LE
Anne De Paepe
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
2000
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
Geert Mortier
Lieve Nuytinck
Margarita Craen
Jean-Pierre Renard
Juliaan Leroy
Anne De Paepe
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2000
Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.
Lieve Nuytinck
T TUKEL
H KAYSERILI
MY APAK
Anne De Paepe
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
Geert Mortier
Mary Ann Weis
Lieve Nuytinck
Lily M King
Douglas J Wilkin
Anne De Paepe
Ralph S Lachman
David L Rimoin
David R Eyre
Daniel H Cohn
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000)
Geert Mortier
Mary Ann Weis
Lieve Nuytinck
Lily M King
Douglas J Wilkin
Anne De Paepe
RS Lachman
David L Rimoin
David R Eyre
Daniel H Cohn
Correctie
2000
1999
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.
Lieve Nuytinck
BS SAYLI
W. Karen
Anne De Paepe
A1
Artikel in een tijdschrift
in
PRENATAL DIAGNOSIS
1999
Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome: a case report
M De Vos
Lieve Nuytinck
C Verellen
Anne De Paepe
A1
Artikel in een tijdschrift
in
FETAL DIAGNOSIS AND THERAPY
1999
Sp1 polymorphism at the COL1A1 gene as a determinant of bone density in elderly men
I van Pottelbergh
Lieve Nuytinck
Stefan Goemaere
Hans-Georg Zmierczak
K Toye
M Daems
Anne De Paepe
Jean Kaufman
C3
Conferentie
1999
1998
A de novo interstitial deletion of the long arm of chromosome 7: a case report
W Courtens
L Messiaen
Lieve Nuytinck
Franki Speleman
E Vamos
C3
Conferentie
1998
A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I
Lieve Nuytinck
C Coppin
Anne De Paepe
A1
Artikel in een tijdschrift
in
MATRIX BIOLOGY
1998
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 Prockop
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
1998
Bruck syndrome: neonatal presentation and natural course in three patients.
Juliaan Leroy
Lieve Nuytinck
Anne De Paepe
M DE RAMMELAERE
Y GILLEROT
A VERLOES
Bart Loeys
W DE GROOTE
A1
Artikel in een tijdschrift
in
PEDIATRIC RADIOLOGY
1998
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum
Michael D Briggs
Geert Mortier
Willam G Cole
Lily M King
Steven S Golik
Jacky Bonaventure
Lieve Nuytinck
Anne De Paepe
Juliaan Leroy
Leslie Biesecker
et al.
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
1998
Marfan database (third edition) : new mutations and new routines for the software
Gwenaëlle Collod-Béroud
Christophe Béroud
Lesley Ades
Cheryl Black
Maureen Boxer
David JH Brocks
Katherine J Holman
Anne De Paepe
Uta Francke
Ulrich Grau
et al.
A1
Artikel in een tijdschrift
in
NUCLEIC ACIDS RESEARCH
1998
The biochemical and molecular basis of mild osteogenesis imperfecta
Lieve Nuytinck
M Van Thielen
Anne De Paepe
C3
Conferentie
1998
The vascular type of the Ehlers-Danlos syndrome: update on the correlation between molecular and phenotypic findings
Lieve Nuytinck
M De Vos
Anne De Paepe
C3
Conferentie
1998
1997
A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature
W Courtens
Lieve Nuytinck
C Fricx
J André
E Vamos
A1
Artikel in een tijdschrift
in
CLINICAL DYSMORPHOLOGY
1997
Correlation of ultrastructural collagen fibril aberrations with a mutation in the COL5A1 gene in Ehlers-Danlos syndrome type I
I Hausser
Anne De Paepe
Lieve Nuytinck
Jean-Marie Naeyaert
I Anton Lamprecht
C3
Conferentie
1997
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes
Anne De Paepe
Lieve Nuytinck
Marc Raes
Jean-Pierre Fryns
A1
Artikel in een tijdschrift
in
HUMAN GENETICS
1997
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II
Anne De Paepe
Lieve Nuytinck
Ingrid Hausser
Ingrun Anton-Lamprecht
Jean Naeyaert
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF HUMAN GENETICS
1997
Osteogenesis imperfects phenotypes resulting from serine for glycine substitutions in the α2(I) collagen chain
Lieve Nuytinck
K Wettinck
M Freund
L Van Maldergem
G Fabry
Anne De Paepe
A1
Artikel in een tijdschrift
in
EUROPEAN JOURNAL OF HUMAN GENETICS
1997
1996
Substitution of glycine-661 by serine in the α1(I) and α2(I) chains of type I collagen results in different clinical and biochemical phenotypes
Lieve Nuytinck
Raymond Dalgleish
Loretta Spotila
Jean-Pierre Renard
Nicole Van Regemorter
Anne De Paepe
A1
Artikel in een tijdschrift
in
HUMAN GENETICS
1996
1995
Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features
Jean-Marie Naeyaert
Lieve Nuytinck
Sylvia De Bie
Hilde Beele
André Kint
Anne De Paepe
A1
Artikel in een tijdschrift
in
JOURNAL OF INVESTIGATIVE DERMATOLOGY
1995
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
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
1995
1994
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
Juliaan Leroy
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
1994
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
A1
Artikel in een tijdschrift
in
HUMAN MUTATION
1994
1993
CHARACTERIZATION OF A GLYCINE 769 TO SERINE SUBSTITUTION IN COLLAGEN TYPE-III IN A 3 GENERATION FAMILY WITH ATYPICAL EDS IV
A. DEPAEPE
Lieve Nuytinck
J. LEROY
C3
Conferentie
1993
Osteoporosis-pseudoglioma syndrome
Anne De Paepe
Juliaan Leroy
Lieve Nuytinck
Françoise Meire
Jan Capoen
A1
Artikel in een tijdschrift
in
AMERICAN JOURNAL OF MEDICAL GENETICS
1993
Substitution of Gly-1OO9 for valine : further evidence that mutations close to the C-terminal end of the helix produce a severe EDS IV phenotype
Lieve Nuytinck
Jean-Piere Renard
Anne De Paepe
C1
Conferentie
1993
Substitution of glycine-1009 for serine in collagen type-III: further evidence that mutations close to the C-terminal end of the helix produce a severe EDS IV phenotype
J Leroy
Lieve Nuytinck
Jean-Piere Renard
Anne De Paepe
C3
Conferentie
1993
1992
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV
Lieve Nuytinck
P Narcisi
A Nicholls
Jean-Pierre Renard
FM Pope
Anne De Paepe
A1
Artikel in een tijdschrift
in
JOURNAL OF MEDICAL GENETICS
1992
Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis
BV Nusgens
C Verellen-Dumoulin
T Hermanns-Lê
Anne De Paepe
Lieve Nuytinck
GE Piérard
CM Lapière
A1
Artikel in een tijdschrift
in
NATURE GENETICS
1992