A M W van den Ouweland
Overview
Explore the profile of A M W van den Ouweland including associated specialties, affiliations and a list of published articles.
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Articles
17
Citations
282
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Recent Articles
1.
Aydemirli M, van der Tuin K, Hes F, van den Ouweland A, van Wezel T, Kapiteijn E, et al.
Fam Cancer
. 2019 Oct;
19(1):15-21.
PMID: 31598872
We report a case of a 22-year-old female patient who was diagnosed with a cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC). While at early ages this thyroid cancer variant is...
2.
Goverde A, Spaander M, Nieboer D, van den Ouweland A, Dinjens W, Dubbink H, et al.
Fam Cancer
. 2017 Sep;
17(3):361-370.
PMID: 28933000
Until recently, no prediction models for Lynch syndrome (LS) had been validated for PMS2 mutation carriers. We aimed to evaluate MMRpredict and PREMM5 in a clinical cohort and for PMS2...
3.
Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex
Overwater I, Verhaar B, Lingsma H, Bindels-de Heus G, van den Ouweland A, Nellist M, et al.
J Neurol
. 2016 Nov;
264(1):161-167.
PMID: 27878438
Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and to support development. The aim of this...
4.
Donze S, Meijer C, Kant S, Zandwijken G, van der Hout A, van Spaendonk R, et al.
Eur J Endocrinol
. 2015 Aug;
173(5):611-21.
PMID: 26264720
Objective: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency (SHI)) is a registered indication for GH treatment. Patients with a SHOX...
5.
van den Elzen M, Twigg S, Goos J, Hoogeboom A, van den Ouweland A, Wilkie A, et al.
Eur J Hum Genet
. 2013 Nov;
22(8):995-1001.
PMID: 24281372
Craniofrontonasal syndrome (CFNS) is an X-linked developmental malformation, caused by mutations in the EFNB1 gene, which have only been described since 2004. A genotype-phenotype correlation seems not to be present....
6.
Van Minkelen R, Van Bever Y, Kromosoeto J, Withagen-Hermans C, Nieuwlaat A, Halley D, et al.
Clin Genet
. 2013 May;
85(4):318-27.
PMID: 23656349
NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro-cardio-facio-cutaneous syndrome (NCFC). Because of the clinical overlap between NCFCs, genetic analysis of NF1 is necessary to confirm...
7.
Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott R, McGuffog L, et al.
Br J Cancer
. 2012 Jun;
106(12):2016-24.
PMID: 22669161
Background: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB)...
8.
Lammens C, Bleiker E, Verhoef S, Ausems M, Majoor-Krakauer D, Sijmons R, et al.
Psychooncology
. 2011 Mar;
20(6):631-8.
PMID: 21384469
Objective: Li Fraumeni syndrome (LFS) and Von Hippel-Lindau disease (VHL) are two rare hereditary tumor syndromes, characterized by a high risk of developing multiple tumors at various sites and ages...
9.
Lammens C, Bleiker E, Verhoef S, Hes F, Ausems M, Majoor-Krakauer D, et al.
Clin Genet
. 2010 Feb;
77(5):483-91.
PMID: 20184621
Von Hippel-Lindau disease (VHL) is a hereditary tumor susceptibility syndrome, characterized by an increased risk of developing multiple benign and malignant tumors at various sites and ages with limited preventive...
10.
Boer K, Jansen F, Nellist M, Redeker S, van den Ouweland A, Spliet W, et al.
Epilepsy Res
. 2007 Nov;
78(1):7-21.
PMID: 18023148
Cortical tubers and subependymal giant cell tumors (SGCT) are two major cerebral lesions associated with tuberous sclerosis complex (TSC). In the present study, we investigated immunocytochemically the inflammatory cell components...