Research Explorer

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Researcher

Barbara Delle Chiaie

Awards & Distinctions

18 Results

2014

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Paul Daniel BradyBARBARA DELLE CHIAIEGabrielle ChristenhuszKris DierickxKris Van Den BogaertBjörn MentenSandra JanssensPaul DefoortEllen RoetsELKE SLEURS et al.

A1 Journal Article in GENETICS IN MEDICINE

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

Dorien BaetensWilhelm MladenovBARBARA DELLE CHIAIEBjörn MentenAn DesloovereVioleta IotovaBert CallewaertErik Van LaeckePiet HoebekeElfride De Baere et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2012

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

Sarah VergultAndrew DauberBARBARA DELLE CHIAIEElke Van OudenhoveMarleen SimonAli RihaniBart LoeysJoel HirschhornJean PfotenhauerJohn A Phillips et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Adults with Down syndrome: health/care considerations for health professionals

BARBARA DELLE CHIAIES Van den BraembusscheC ElsingS van den EntRoos LeroyBert CallewaertM WojciechowskiBruce PoppeG Van BuggenhoutG Van Goethem

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Gastrointestinal problems in children with Down syndrome

ELLEN MARISMyriam Van WinckelEls Van De VijverBruno HauserBert CallewaertIlse HoffmanBARBARA DELLE CHIAIE

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Health problems in children with Down syndrome

M WojciechowskiC FranckeM KluiverT BoiyBert CallewaertBARBARA DELLE CHIAIEG DembourM De RademaekerA JansenS Kenis et al.

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

Peter M KrawitzYoshiko MurakamiJochen HechtUlrike KrügerSusan E HolderGeert R MortierBARBARA DELLE CHIAIEElfride De BaereMiles D ThompsonTony Roscioli et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2011

Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting

Sarah VergultKaren BuysseBARBARA DELLE CHIAIESandra JanssensOlivier VanakkerRudy Van CosterAnne De PaepeFranki SpelemanBjörn Menten

Klinische en genetische aspecten van het syndroom van Turner

BARBARA DELLE CHIAIEBjörn MentenAnne De PaepeJean De SchepperSandra Janssens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

2010

Genotype-Phenotype Correlation in Eight New Patients With a Deletion Encompassing 2q31.1

D MitterBARBARA DELLE CHIAIEHJ LudeckeG Gillessen-KaesbachA BohringJ KohlhaseA CaliebeR SiebertA RopkeMA Ramos-Arroyo et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Preconceptueel en prenataal genetisch advies

BARBARA DELLE CHIAIEBjörn MentenAnne De PaepeSandra Janssens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

2009

Aandoeningen van de geslachtsontwikkeling

Martine CoolsElien Van HoeckeGRETA DE CUYPEREGuy T'SjoenBARBARA DELLE CHIAIEErik Van LaeckePiet Hoebeke

A4 Journal Article in PERCENTIEL (NEDERLANDSE ED.)

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples

Björn MentenKatrien SwertsBARBARA DELLE CHIAIESandra JanssensKaren BuysseJan PhilippéFranki Speleman

A1 Journal Article in BMC MEDICAL GENETICS

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience

Karen BuysseBARBARA DELLE CHIAIERudy Van CosterBart LoeysAnne De PaepeGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

EK BijlsmaACJ GijsbersJHM Schuurs-HoeijmakersA van HaeringenDEF van de PutteBM AnderlidJ LundinP LapunzinaLAP JuradoBARBARA DELLE CHIAIE et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der AaLiesbeth RoomsGeert VandeweyerJenneke van den EndeEdwin ReyniersMarco FicheraCorrado RomanoBARBARA DELLE CHIAIEGeert MortierBjörn Menten et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Myhre syndrome: in search of the causal gene

Sarah VergultMarleen SimonBARBARA DELLE CHIAIEAli RihaniFranki SpelemanGeert MortierBjörn Menten

Myhre syndrome: in search of the causal gene

Sarah VergultMarleen SimonBARBARA DELLE CHIAIEAli RihaniFranki SpelemanGeert MortierBjörn Menten