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» Authors » A M W van den Ouweland

A M W van den Ouweland

Explore the profile of A M W van den Ouweland including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 17
Citations 282
Followers 0
Related Specialties
Oncology
Genetics
Neurology
Top 10 Co-Authors
F J Hes
R B van der Luijt
D J J Halley
R H Sijmons
M Nellist
D Majoor-Krakauer
A Wagner
W N M Dinjens
S Verhoef
C R M Lammens
Published In
Clin Genet
Fam Cancer
Br J Cancer
Ned Tijdschr Geneeskd
Genet Test
Affiliations
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Recent Articles
11.
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
Hes F, van der Luijt R, Janssen A, Zewald R, de Jong G, Lenders J, et al.
Clin Genet . 2007 Jul; 72(2):122-9. PMID: 17661816
The current clinical diagnosis of Von Hippel-Lindau (VHL) disease demands at least one specific [corrected] VHL manifestation in a patient with familial VHL disease, or, in a [corrected] sporadic patient,...
12.
[Tuberous sclerosis complex type 1 (TSC1): diagnostic significance of the cutaneous mini-lesions in a familial presentation]
Pascual-Castroviejo I, Pascual-Pascual S, Velazquez R, van den Ouweland A, Halley D
Neurologia . 2006 Sep; 21(7):386-8. PMID: 16977561
We present a family with tuberous sclerosis complex type 1 (TSC1). The family is formed by six patients. Two sibs, female and male, both patients having minor signs of the...
13.
Hyperechogenic fetal bowel: counseling difficulties
Marcus-Soekarman D, Offermans J, van den Ouweland A, Mulder A, Muntjewerff N, Vossen M, et al.
Eur J Med Genet . 2005 Dec; 48(4):421-5. PMID: 16378926
The detection of echodense fetal bowel on ultrasound examination in the second trimester of pregnancy justifies invasive procedures such as amniocentesis to detect an underlying cause. We present a case...
14.
Large deletion at the TSC1 locus in a family with tuberous sclerosis complex
Nellist M, Sancak O, Goedbloed M, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, et al.
Genet Test . 2005 Oct; 9(3):226-30. PMID: 16225402
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused...
15.
Ipsilateral breast tumour recurrence in hereditary breast cancer following breast-conserving therapy
Seynaeve C, Verhoog L, van de Bosch L, van Geel A, Menke-Pluymers M, Meijers-Heijboer E, et al.
Eur J Cancer . 2004 Apr; 40(8):1150-8. PMID: 15110878
The overall rate of an ipsilateral breast tumour recurrence (IBTR) after breast-conserving therapy (BCT) ranges from 1% to 2% per year. Risk factors include young age but data on the...
16.
Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression
Koppert L, van der Velden A, van de Wetering M, Abbou M, van den Ouweland A, Tilanus H, et al.
Br J Cancer . 2004 Feb; 90(4):892-9. PMID: 14970870
Up to 60% of gastro-oesophageal junction (GEJ) adenocarcinomas show nuclear beta-catenin expression, pointing to activated T-cell factor (TCF)/beta-catenin-driven gene transcription. We demonstrate in five human GEJ adenocarcinoma cell lines that...
17.
[From gene to disease; craniosynostosis syndromes due to FGFR2-mutation]
van Ravenswaaij-Arts C, van den Ouweland A, Hoogeboom A, Herbergs J, Pals G
Ned Tijdschr Geneeskd . 2002 Feb; 146(2):63-6. PMID: 11820058
One of the genes involved in craniosynostosis syndromes is the fibroblast growth factor receptor 2 (FGFR2) gene, a tyrosine kinase receptor gene. Upon ligand binding the FGFR2 receptors dimerise, and...