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Kees E. P. van Roozendaal

Researcher at Maastricht University

Publications -  19
Citations -  1468

Kees E. P. van Roozendaal is an academic researcher from Maastricht University. The author has contributed to research in topics: Rett syndrome & Breast cancer. The author has an hindex of 13, co-authored 19 publications receiving 1296 citations. Previous affiliations of Kees E. P. van Roozendaal include Maastricht University Medical Centre & Radboud University Nijmegen.

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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Stig E. Bojesen, +455 more
- 01 Apr 2013 - 
TL;DR: Using the Illumina custom genotyping array iCOGs, SNPs at the TERT locus in breast, ovarian and BRCA1 mutation carrier cancer cases and controls and leukocyte telomere measurements are analyzed to find associations cluster into three independent peaks.
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Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

Lot Snijders Blok, +86 more
TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.
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Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Mia M. Gaudet, +116 more
- 28 Oct 2010 - 
TL;DR: Results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCa2 wild-type breast cancer.

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Mia M. Gaudet, +115 more
Journal ArticleDOI

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)

TL;DR: A 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis is presented and a history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome.