Research Explorer

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Researcher

Lieve Nuytinck

119 Results

2023

Advancing scientific progression and multistakeholder mentorship in the Young Investigators Community (YIC)

Eva DegraeuweLaura PersijnTessa Van der GeestLieve NuytinckJohan Vande Walle

An update of the Belgian Pediatric Clinical Trial Network (BPCRN)

Eva DegraeuweLaura PersijnAnnelies De MaréLieve NuytinckDaphné ChristiaensAnn RaesJohan Vande WalleKarel Allegaert

An update on the challenges of conducting pediatric clinical trials : 15 years of progress since EMA regulation implementation

Eva DegraeuwePirkko LepolaMark TurnerKim JenningsLieve NuytinckAnn RaesKarel AllegaertFenna MahlerJohan Vande Walle

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 VandenbergheJorien De LoorKatrien FrancoisKristof VandekerckhoveINGRID HERCKJohan Vande WalleHarlinde PeperstraeteThierry BovéDaniël De WolfLieve Nuytinck et al.

A1 Journal Article in DIAGNOSTICS

The European Pediatric Clinical Trials Network Conect4children (c4c) : 5-year report of activities within Belgium

Eva DegraeuweLaura PersijnMark TurnerLieve NuytinckAnnelies De MaréDaphné ChristiaensAnn RaesKarel AllegaertJohan Vande Walle

The European Pediatric Clinical Trials Network conect4children (c4c) : 5-year report of activities within Belgium

Eva DegraeuweLaura PersijnMark TurnerLieve NuytinckAnnelies De MaréDaphné ChristiaensAnn RaesKarel AllegaertJohan Vande Walle

The Young Investigators Community (YIC) Workshop : prospects for advancement in education

Eva DegraeuweLaura PersijnTessa Van der GeestLieve NuytinckJohan Vande Walle

The challenges in performing pediatric clinical trials : an update after 15-years of EMA regulation

Eva DegraeuwePirkko LepolaMark TurnerKim JenningsLieve NuytinckAnn RaesKarel AllegaertJohan Vande Walle

Update of the Belgian Pediatric Clinical Trial Network (BPCRN)

Johan Vande WalleEva DegraeuweLaura PersijnAnnelies De MaréDaphné ChristiaensAnn RaesKarel AllegaertLieve Nuytinck

Update on the evolution of data standardisation in a European pediatric setting

Eva DegraeuweLaura PersijnLieve NuytinckAnn RaesJohan Vande Walle

Young Investigators Interactive Workshop : progression and next steps

Eva DegraeuweLaura PersijnTessa Van der GeestLieve NuytinckAnn RaesJohan Vande Walle

conect4children (c4c) European Communities and future perspectives

Eva DegraeuweLaura PersijnTessa Van Der GeestLieve NuytinckAnn RaesJohan Van de WalleMark Turner

2022

A broad survey to determine paediatric clinical trial requirements

Laura PersijnLieve NuytinckEva DegraeuweElena LevtchenkoNicholas DeconinckEtienne SokalSaskia Vande VeldeOlivier GilliauxAnn RaesMark Turner et al.

A broad survey to determine paediatric clinical trial requirements within Belgium

Johan Vande WalleAnn RaesLieve NuytinckEva DegraeuweDaphné ChristiaensLaura Persijn

A framework for interprofessional collaborations towards sustainable paediatric drug development

Eva DegraeuweDaphné ChristiaensLaura PersijnRicardo M FernandesLieve NuytinckTessa van der GeestMark TurnerAnn RaesJohan Vande Walle

BPCRN : the Belgium businessplan

Laura PersijnLieve NuytinckEva DegraeuweAnn RaesJohan Vande Walle

Belgium pediatric Clinical research network

Johan Vande WalleLaura PersijnSevasti KaramariaAnn RaesDaphné ChristiaensLieve NuytinckEva DegraeuweKarel Allegaert

Challenges of creating a patient engagement group in a pediatric setting

Eva DegraeuweMaria CavallerLaura PersijnElke GasthuysEvelien SnauwaertLieve NuytinckJohan Vande WalleAnn Raes

Controlling the flood of study feasibilities

Eva DegraeuweLaura PersijnLieve NuytinckElena LevtchenkoNicholas DeconinckEtienne SokalSaskia Vande VeldeOlivier GilliauxKarl LoggheAnn Raes et al.

Investing in sustainable European paediatric trial networks : the value of a Young Investigator Community

Eva DegraeuweTessa van der GeestRicardo FernandesPaul MalenfantLieve NuytinckElke GasthuysAnn RaesJohan Vande WalleRégis HankardMark Turner

Paediatric clinical trial needs and requirements within Belgium

Eva DegraeuweLaura PersijnLieve NuytinckElena LevtchenkoNicolas DeconinckEtienne SokalSaskia Vande VeldeOlivier GillauxKarl LoggheANN RAES et al.

Pediatric drug development in Europe : Innovative medecines initiative, Connect for children project

Johan Vande WalleLieve NuytinckLaura PersijnEva Degraeuwe

The European paediatric clinical trials network conect4children : activities of the Belgium national network and its progression

Eva DegraeuweLaura PersijnLieve NuytinckElena LevtchenkoNicholas DeconinckEtienne SokalSaskia Vande VeldeOlivier GilliauxKarl LoggheAnn Raes et al.

The flood of study feasibilities and the value of a centralized approach

Eva DegraeuweLaura PersijnLieve NuytinckElena LevtchenkoNicolas DeconinckEtienne SokalSaskia Vande VeldeOlivier GilliauxKarl LoggheANN RAES et al.

The sustainable model for facilitating and improving pediatric clinical trials in Belgium

Laura PersijnAnnelies De MaréLieve NuytinckEva DegraeuweAnn RaesJohan Vande Walle

2021

C4C et structuration de la recherche clinique en néphrologie pédiatrique

Eva DegraeuweJohan Vande WalleRégis HankardLieve Nuytinck

Early impact of severe acute respiratory syndrome coronavirus 2 on pediatric clinical research : a Pan-European and Canadian snapshot in time

Olivier L. ManthaFlorence FlameinMark TurnerRicardo M. FernandesRégis HankardRuth LadensteinAndrea MikolasekDaphné ChristiaensEva DegraeuweJohan Vande Walle et al.

A1 Journal Article in JOURNAL OF PEDIATRICS

European paediatric clinical trial networks beyond the Atlantic : the collaboration between I-ACT for Children (US) and the Belgian National Network

Eva DegraeuweMark TurnerLieve NuytinckDaphné ChristiaensElke GasthuysCollin HovingaCallie HaetonDinah StormJohan Vande Walle

How to improve paediatric clinical trial design : a sponsor’s perspective

Eva DegraeuweLieve NuytinckElke GasthuysAnn RaesJohan Vande WalleMark Turner

How to perform feasibility analysis for the POV studies

Eva DegraeuweTessa van der GeestLieve NuytinckJohan Vande Walle

Interregional internationlisation initiative for research group paediatrics and paediatric nephrology

Eva DegraeuweAnn RaesKristof VandenkerckhoveJoke DehoorneElke GasthuysLieve NuytinckEvelien SnauwaertJohan Vande Walle

Investing in sustainable Pediatric European Trial Networks : the value of a young investigator’s community

Eva DegraeuweTessa Van der GeestRicardo FernandesPaul MalenfantLieve NuytinckElke GasthuysAnn RaesMark TurnerJohan Vande WalleRégis Hankard

Paediatric adaptations for clinical trial site preparation in pharmacological research

Eva DegraeuweLieve NuytinckElke GasthuysAnn RaesJohan Vande WalleMark Turner

Paediatric adaptations in the ethical committee and national authority approval process for pharmacological research

Eva DegraeuweLieve NuytinckElke GasthuysAnn RaesJohan Vande WalleMark Turner

Paediatric pharmacological development through a European clinical trial network conect4children (c4c) : activities of the Belgian National Network and its progression

Eva DegraeuweMark TurnerLieve NuytinckDaphné ChristiaensSimon VanderschaegheElke GasthuysSevasti KaramariaCatherine Van Der StraetenJohan Vande Walle

Potential opportunities for the National Hub Network : gap analysis by the Belgian National Hub

Eva DegraeuweJohan Vande WalleLieve Nuytinck

The European Paediatric Clinical Trials Network beyond the Atlantic : the collaboration between I-ACT for Children (US) and European Network Activity

Eva DegraeuweLeen De TaeyeMark TurnerLieve NuytinckDaphné ChristiaensElke GasthuysCollin HovingaChristina StanleyJohan Vande Walle

The European Paediatric Clinical Trials Network conect4children : activities of the Belgium National Network and its progression

Eva DegraeuweJohan Vande WalleLieve NuytinckAnn Raes

The European Paediatric Clinical Trials Network conect4children : activities of the Belgium National Network and its progression

Eva DegraeuweLeen De TaeyeMark TurnerLieve NuytinckDaphné ChristiaensSimon VanderschaegheElke GasthuysSevasti KaramariaCatherine Van Der StraetenJohan Vande Walle

c4c : NH performance and finance presentation

Eva DegraeuweLieve NuytinckMark TurnerRicardo FernandesJohan Vande Walle

2020

Conect4children (c4c) : National Hub Belgium activities and organisation

Eva DegraeuweJohan Vande WalleLieve NuytinckLeen De TaeyeDaphné Christiaens

Lecture / Speech

EPTRI Belgian Joint Research Unit : harmonisation and concertation of paediatric research in Belgium to ensure better and safer healthcare for children

Leen De TaeyeKarel AllegaertAnne SmitsPierre Van DammeThierry SchurmansMarie-Christine SeghayeElke SmitsEtienne SokalLieve NuytinckJohan Vande Walle

Evaluating risk, safety and efficacy of novel reproductive techniques and therapies through the EuroGTP II risk assessment tool

Veerle ProvoostAnnelies TolpeRita PiteiraRicardo Casaroli-MaranoKelly TillemanAnna VilarrodonaA. Rita PiteiraElba AgustíElisabet TahullEsteve Trias et al.

A1 Journal Article in HUMAN REPRODUCTION

SafePedrug / BPCRN + Belgium pediatric clinical research network : the next step in pediatric drug research

Johan Vande WalleSevasti KaramariaLien DosscheLieve NuytinckLeen De Taeye

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 GroupSuvi T. VaaraJorien De LoorMikko HaapioLieve NuytinckKristel DemeyereVille PettiläEvelyne Meyer

A1 Journal Article in CRITICAL CARE

2019

SAFEPEDRUG : safer pediatric drugs for children: what have we learned?

Elke GasthuysJohan Vande WalleLien DosscheLieve NuytinckRobin MicheletAn VermeulenSevasti Karamaria

Setting up a Belgian paediatric clinical research network

Johan Vande WalleLeen De TaeyeElke GasthuysDaphne ChristaensSevasti KaramariaLieve Nuytinck

A2 Journal Article in BELGIAN JOURNAL OF PAEDIATRICS

Survey by TEDDY European Network of Excellence for Paediatric Clinical Research demonstrates potential for Europe‐wide trials

Lucia RuggieriDonato BonifaziAnnalisa LandiFedele BonifaziFranco BartoloniMary CostelloMaria Grazia FelisiElke GasthuysAnila GodoFederico Martinon Torres et al.

A1 Journal Article in ACTA PAEDIATRICA

2018

Le project Européen c4c

Johan Vande WalleFranz SchaeferElke GasthuysLieve Nuytinck

Vestibular infant screening in Flanders

Leen MaesSarie MartensSaartje VanaudenaerdeMarieke SucaetCleo DhondtAlexandra De KegelMieke De BockKristel BoelaertPieter BolleLieve Nuytinck et al.

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 LoorINGRID HERCKKatrien FrancoisASTRID VAN WESEMAELLieve NuytinckEvelyne MeyerEric Hoste

A1 Journal Article in ANNALS OF INTENSIVE CARE

Vestibular infant screening-Flanders

Leen MaesCleo DhondtAlexandra De KegelMieke De BockKristel BoelaertPieter BolleLieve NuytinckIngeborg Dhooge

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 LoorJohan DecruyenaereKristel DemeyereLieve NuytinckEric HosteEvelyne Meyer

A1 Journal Article in CRITICAL CARE

2013

Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients

Filomeen HaerynckJM Mahachie JohnKristel Van SteenPetra SchelstraeteSabine Van daeleBart LoeysMira Van ThielenI De CanckLieve NuytinckFrans De Baets

A1 Journal Article in HUMAN IMMUNOLOGY

2009

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

Hans VerstraelenRita VerhelstLieve NuytinckKristien RoelensEls De MeesterDaniella De VosMartine Van ThielenRudi RossauWim DelvaEllen De Backer et al.

A1 Journal Article in JOURNAL OF REPRODUCTIVE IMMUNOLOGY

2007

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

Juliaan LeroyLieve NuytinckJo LambertJean-Marie NaeyaertGeert Mortier

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Extremes of L-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene

M CedzynskiLieve NuytinckAPM AtkinsonA St SwierzkoK ZemanJ SzemrajA SzalaML TurnerDC Kilpatrick

A1 Journal Article in CLINICAL AND EXPERIMENTAL IMMUNOLOGY

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 CruyssenLieve NuytinckFilip De Keyser

2006

Polymorphisms in the ficolin 1 gene (Fcn1) are associated with susceptibility to the development of rheumatoid arthritis

Bert Vander CruyssenLieve NuytinckFilip De Keyser

Role of mannose-binding lectin (MBL2) genotyping in predicting the risk of recurrent otitis media (ROM)

Lieve NuytinckEls De MeesterMartine Van ThielenPaul Govaerts

A1 Journal Article in ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY

2005

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

Winnie CourtensStefan VermeulenWim WuytsLudwine MessiaenJan WautersLieve NuytinckNils PeetersKatrien StormFranki SpelemanMarkus Nothen

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

INNO-LiPA MBL2: a validated genotyping assay for mannose-binding lectin 2 (MBL-2)

M DuhamelM Van ThielenK De VreeseM BlaserF HustaertR SteffensenK VarmingI De CanckLieve Nuytinck

Mannose-binding lectin (MBL) genetic susceptibility for Alzheimer's disease

Lieve NuytinckM PalmerS Schraen-MaschkeM DuhamelM Van ThielenT Van De Casteele

Mannose-binding lectin polymorphisms in rheumatoid arthritis and the associations with radiological progression rate and serological markers

Leen De RyckeIsabelle PeeneElli KruithofT Van De CasteeleLieve NuytinckEric VeysFilip De Keyser

Mannose-binding lectin polymorphisms in rheumatoid arthritis and the associations with radiological progression rate and serological markers

Leen De RyckeIsabelle PeeneElli KruithofT Van De CasteeleLieve NuytinckEric VeysFilip De Keyser

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

Fransiska MalfaitPaul CouckeSofie SymoensBart LoeysLieve NuytinckAnne De Paepe

A1 Journal Article in HUMAN MUTATION

2004

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

Bart LoeysJulie De BackerPetra Van AckerKaren WettinckG PALSLieve NuytinckPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

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

R PALLOTTAT EHRESMANNP FUSILLIAnne De PaepeLieve Nuytinck

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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 SymoensLieve NuytinckE LEGIUSFransiska MalfaitPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (type VIIC) and common polymorphisms in the ADAMTS2 gene

A COLIGELieve NuytinckI HAUSSERAJ VAN ESSENM THIRYC HERENSLC ADESFransiska MalfaitAnne De PaepeP FRANCK et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

2003

The molecular basis of classical Ehlers-Danlos Syndrome (EDS).

A de PaepeF MalfaitS SymoensB LoeysLieve NuytinckP Coucke

The molecular basis of classical Ehlers-Danlos syndrome (EDS)

F MalfaitP CouckeS SymoensLieve NuytinckA De Paepe

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphlism database

G COLLOD-BEROUDS LE BOURDELLESL ADESL ALA-KOKKOP BOOMSM BOXERA CHILDP COMEGLIOAnne De PaepeJC HYLAND et al.

A1 Journal Article in HUMAN MUTATION

2002

A non-glycine mutation in the C-propeptide of the alpha1(I) collagen chain causes mild Osteogenesis imperfecta and EDS-like features

Sofie SymoensLieve NuytinckPaul CouckeBart LoeysE LegiusAnne De Paepe

Acute intramural haematoma of the coeliac artery.

HJ KRUSEM WEISELieve NuytinckAnne De PaepeSM SCHELLONG

A1 Journal Article in VASA-JOURNAL OF VASCULAR DISEASES

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome

C GiuntaLieve NuytinckM RaghunathI HausserAnne De PaepeB Steinmann

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).

Bart LoeysLieve NuytinckPetra Van AckerSOPHIE WALRAEDTM BONDUELLEK SERMONB HAMELA SANCHEZLudwine MessiaenAnne De Paepe

A1 Journal Article in PRENATAL DIAGNOSIS

2001

A newborn with microphtalmia and pulmonary hypoplasia: Matthew-Wood syndrome confirmed?

Bart LoeysPiet VanhaesebrouckLieve NuytinckGeert Mortier

Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene.

T JANSENAnne De PaepeLieve NuytinckP ALTMEYER

A1 Journal Article in BRITISH JOURNAL OF DERMATOLOGY

Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men.

Inge Van PottelberghStefan GoemaereLieve NuytinckAnne De PaepeJean Kaufman

A1 Journal Article in OSTEOPOROSIS INTERNATIONAL

Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient.

R GARDELLALieve NuytinckS BARLATIPetra Van AckerG TADINIAnne De PaepeM COLOMBI

A1 Journal Article in CLINICAL AND EXPERIMENTAL DERMATOLOGY

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

Bart LoeysLieve NuytinckIsabelle DelvauxSylvia De BieAnne De Paepe

A1 Journal Article in ARCHIVES OF INTERNAL MEDICINE

Heritable collagen disorders: From genotype to phenotype.

Anne De PaepeLieve Nuytinck

A1 Journal Article in ACTA CLINICA BELGICA

Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome.

A MEGARBANEMM RUCHOUXBart LoeysN AYOUBLieve Nuytinck

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

2000

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

Claudine De PraeterGJ GERWIGE BAUSELieve NuytinckJ VLIEGENTHARTW BREUERJP KAMERLINGMarc EspeelJ MARTINAnne De Paepe et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

A novel disorder in a newborn caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

JFG VliegenthartClaudine De PraeterGG GerwigE BauseLieve NuytinckW BreuerJP KamerlingMarc EspeelJJR MartinAnne De Paepe et al.

Acrogeria of the Gottron type in a mother and son

M BlaszczykAnne De PaepeLieve NuytinckM Glinska-FerenzS Jablonska

A1 Journal Article in EUROPEAN JOURNAL OF DERMATOLOGY

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

Lieve NuytinckM FREUNDL LAGAEGE PIERARDT HERMANNS-LEAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

Geert MortierLieve NuytinckMargarita CraenJean-Pierre RenardJuliaan LeroyAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation.

Lieve NuytinckT TUKELH KAYSERILIMY APAKAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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 MortierMary Ann WeisLieve NuytinckLily M KingDouglas J WilkinAnne De PaepeRalph S LachmanDavid L RimoinDavid R EyreDaniel H Cohn

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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 MortierMary Ann WeisLieve NuytinckLily M KingDouglas J WilkinAnne De PaepeRS LachmanDavid L RimoinDavid R EyreDaniel H Cohn

1999

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

Lieve NuytinckBS SAYLIW. KarenAnne De Paepe

A1 Journal Article in PRENATAL DIAGNOSIS

Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome: a case report

M De VosLieve NuytinckC VerellenAnne De Paepe

A1 Journal Article in FETAL DIAGNOSIS AND THERAPY

Sp1 polymorphism at the COL1A1 gene as a determinant of bone density in elderly men

I van PottelberghLieve NuytinckStefan GoemaereHans-Georg ZmierczakK ToyeM DaemsAnne De PaepeJean Kaufman

1998

A de novo interstitial deletion of the long arm of chromosome 7: a case report

W CourtensL MessiaenLieve NuytinckFranki SpelemanE Vamos

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 NuytinckC CoppinAnne De Paepe

A1 Journal Article in MATRIX BIOLOGY

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 KörkköLeena Ala-KokkoAnne De PaepeLieve NuytinckJames EarleyDarwin J Prockop

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Bruck syndrome: neonatal presentation and natural course in three patients.

Juliaan LeroyLieve NuytinckAnne De PaepeM DE RAMMELAEREY GILLEROTA VERLOESBart LoeysW DE GROOTE

A1 Journal Article in PEDIATRIC RADIOLOGY

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum

Michael D BriggsGeert MortierWillam G ColeLily M KingSteven S GolikJacky BonaventureLieve NuytinckAnne De PaepeJuliaan LeroyLeslie Biesecker et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Marfan database (third edition) : new mutations and new routines for the software

Gwenaëlle Collod-BéroudChristophe BéroudLesley AdesCheryl BlackMaureen BoxerDavid JH BrocksKatherine J HolmanAnne De PaepeUta FranckeUlrich Grau et al.

A1 Journal Article in NUCLEIC ACIDS RESEARCH

The biochemical and molecular basis of mild osteogenesis imperfecta

Lieve NuytinckM Van ThielenAnne De Paepe

The vascular type of the Ehlers-Danlos syndrome: update on the correlation between molecular and phenotypic findings

Lieve NuytinckM De VosAnne De Paepe

1997

A probable case of Wiedemann-Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature

W CourtensLieve NuytinckC FricxJ AndréE Vamos

A1 Journal Article in CLINICAL DYSMORPHOLOGY

Correlation of ultrastructural collagen fibril aberrations with a mutation in the COL5A1 gene in Ehlers-Danlos syndrome type I

I HausserAnne De PaepeLieve NuytinckJean-Marie NaeyaertI Anton Lamprecht

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

Anne De PaepeLieve NuytinckMarc RaesJean-Pierre Fryns

A1 Journal Article in HUMAN GENETICS

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II

Anne De PaepeLieve NuytinckIngrid HausserIngrun Anton-LamprechtJean Naeyaert

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Osteogenesis imperfects phenotypes resulting from serine for glycine substitutions in the α2(I) collagen chain

Lieve NuytinckK WettinckM FreundL Van MaldergemG FabryAnne De Paepe

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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 NuytinckRaymond DalgleishLoretta SpotilaJean-Pierre RenardNicole Van RegemorterAnne De Paepe

A1 Journal Article in HUMAN GENETICS

1995

Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features

Jean-Marie NaeyaertLieve NuytinckSylvia De BieHilde BeeleAndré KintAnne De Paepe

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

Gerard TrompAnne De PaepeLieve NuytinckSwarna MadhatheriHelena Kuivaniemi

A1 Journal Article in HUMAN MUTATION

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 NuytinckAnne De PaepeJean-Pierre RenardFilip AdriaensJuliaan Leroy

A1 Journal Article in HUMAN MUTATION

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

Katrina MackayAnne De PaepeLieve NuytinckRaymond Dalgleish

A1 Journal Article in HUMAN MUTATION

1993

CHARACTERIZATION OF A GLYCINE 769 TO SERINE SUBSTITUTION IN COLLAGEN TYPE-III IN A 3 GENERATION FAMILY WITH ATYPICAL EDS IV

A. DEPAEPELieve NuytinckJ. LEROY

Osteoporosis-pseudoglioma syndrome

Anne De PaepeJuliaan LeroyLieve NuytinckFrançoise MeireJan Capoen

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS

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 NuytinckJean-Piere RenardAnne De Paepe

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 LeroyLieve NuytinckJean-Piere RenardAnne De Paepe

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 NuytinckP NarcisiA NichollsJean-Pierre RenardFM PopeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis

BV NusgensC Verellen-DumoulinT Hermanns-LêAnne De PaepeLieve NuytinckGE PiérardCM Lapière

A1 Journal Article in NATURE GENETICS