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Search: authors:"Klaartje van Engelen"

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The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis

NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Numerous mutations in NKX2-5 have been reported in individuals with congenital heart disease (CHD), but recently a select few have been associated with thyroid dysgenesis, among which the p.A119S variation. We sequenced NKX2-5 in 303 sporadic CHD patients and 38 families with at...

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Purpose Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their...

Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature

Data on the prevalence of congenital heart defects (CHD) in neuroblastoma patients are inconsistent. If CHD are more common in neuroblastoma patients than in the general population, cardiac screening might be warranted. In this study we used echocardiography to determine the prevalence of CHD in a single centre cohort of surviving neuroblastoma patients. In addition, we performed...

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

Rebecca Darlay 8 Rachel Soemedi 8 Ian J. Wilson 8 Kristin L. Ayers 8 Thahira J. Rahman 8 Darroch Hall 8 Barbara J.M. Mulder 7 Aelko H. Zwinderman 7 Klaartje van Engelen 7 J. David Brook 15 Kerry Setchfield

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

Early-onset Parkinson’s disease (EOPD) has been associated with recessive mutations in parkin (PARK2). About half of the mutations found in parkin are genomic rearrangements, i.e., large deletions or duplications. Although many different rearrangements have been found in parkin before, the exact breakpoints involving these rearrangements are rarely mapped. In the present study...