Research Explorer

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Barbara D'haene

25 Resultaten

2014

Structural and numerical changes of chromosome X in patients with esophageal atresia

Erwin BrosensElisabeth M de JongTahsin Stefan BarakatBert H EussenBarbara D'haeneElfride De BaereHannah VerdinPino J PoddigheRobert-Jan GaljaardJoost GribnauAlice S BrooksDick TibboelAnnelies de Klein

A1 Artikel in een tijdschrift in EUROPEAN JOURNAL OF HUMAN GENETICS

2013

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam BauwensCaroline Van CauwenberghSarah De JaegereSteve LefeverBarbara D'haeneFilip PattynThomy de Ravel de l'ArgentièreBart LeroyElfride De BaereFrauke Coppieters

A dual approach for comprehensive genetic testing of ABCA4 in Stargardt disease

Miriam BauwensCaroline Van CauwenberghSarah De JaegereSteve LefeverBarbara D'haeneFilip PattynBart LeroyElfride De BaereFrauke Coppieters

Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping and exome sequencing reveals a new candidate gene for the primary congenital glaucoma locus GLC3E

Hannah VerdinBart LeroyBarbara D'haeneElise VantroysSteve LefeverFrauke CoppietersPhilippe KestelynElfride De Baere

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDIANE BEYSENYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudio MB CarvalhoJames R LupskiElfride De Baere

A1 Artikel in een tijdschrift in PLOS GENETICS

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneDIANE BEYSENYana NovikovaBjörn MentenTom SantePablo LapunzinaJulian NevadoClaudia CarvalhoJames LupskiElfride De Baere

2012

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBart LeroyBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynElfride De Baere

2011

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

Barbara D'haeneFrançoise MeireIlse ClaerhoutHester Y KroesAstrid PlompYvonne H ArensThomy de RavelIngele CasteelsSarah De JaegereSally HoogheWim WuytsJenneke van den EndeFrançoise RoulezHermine E Veenstra-KnolRogier A OldenburgJacques GiltayJohanna BGM VerheijJan-Tjeerd de FaberBjörn MentenAnne De PaepePhilippe KestelynBart LeroyElfride De Baere

A1 Artikel in een tijdschrift in INVESTIGATIVE OPHTHALMOLOGY

High-resolution breakpoint mapping of 10 regulatory and 32 FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneYana NovikovaPablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haenePablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haeneYana NovikovaPablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynBart LeroyElfride De Baere

Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2

Hannah VerdinBarbara D'haeneFrauke CoppietersSteve LefeverPhilippe KestelynBart LeroyElfride De Baere

Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain

Hannah VerdinBarbara D'haeneYana NovikovaDIANE BEYSENPablo LapunzinaJulian NevadoClaudia CarvalhoJames LupskiBjörn MentenElfride De Baere

2010

DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen : netvliesaandoeningen als voorbeeld

Frauke CoppietersCaroline Van CauwenberghBarbara D'haeneSteve LefeverAnne De PaepeBart LeroyElfride De Baere

A2 Artikel in een tijdschrift in TIJDSCHRIFT VOOR GENEESKUNDE

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

Barbara D'haeneJ NevadoM PugeatG PierquinRB LowryW ReardonA DelicadoS García-MiñaurM PalomaresW CourtensM StefanovaS WallaceW WatkinsAN ShellingD WieczorekRA VeitiaAnne De PaepeP LapunzinaElfride De Baere

A1 Artikel in een tijdschrift in HUMAN MUTATION

High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays

Hannah VerdinBarbara D'haenePablo LapunzinaJulian NevadoBjörn MentenElfride De Baere

The study of long-range genetic defects in human transcription factor related disorders

Barbara D'haeneAnne De PaepeElfride De Baere

2009

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Barbara D'haeneC AttanasioDIANE BEYSENJ DostieE LemireP BouchardM FieldK JonesB LorenzBjörn MentenKaren BuysseFilip PattynM FriedliC UclaC RossierC WyssFranki SpelemanAnne De PaepeJ DekkerSE AntonarakisElfride De Baere

A1 Artikel in een tijdschrift in PLOS GENETICS

Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201–203

Ruth RiiseBarbara D'haeneElfride De BaereKaren GrønskovKaren Brøndum-Nielsen

2008

Identification of copy number variants associated with BPES-like phenotypes

ACJ GijsbersBarbara D'haeneY Hilhorst-HofsteeM MannensB AlbrechtJ SeidelDR WittMK MaisenbacherBart LoeysT van EssenE BakkerR HennekamMH BreuningElfride De BaereCAL Ruivenkamp

A1 Artikel in een tijdschrift in HUMAN GENETICS