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List of works by Annemarie H van der Hout

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Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer

scientific article published in Nature
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article
TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes

scientific article published on 01 June 2010
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article
A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

article
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

scientific article published on 29 June 2009
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article
Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

article
Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer

article
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

article
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

scientific article published on 06 February 2009
A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

scientific article published on 21 January 2015
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

scientific article published on 30 January 2008
RB1 mutations and second primary malignancies after hereditary retinoblastoma

scientific article published on June 1, 2012
A homozygous deletion in a small cell lung cancer cell line involving a 3p21 region with a marked instability in yeast artificial chromosomes

scientific article published on August 1994
The HLA class III subregion is responsible for an increased breast cancer risk

scientific article published on 22 July 2003
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes

scientific article published on 29 April 2016
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol

scientific article published on October 1, 1997
RB1mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients

scientific article published on March 31, 2014
The region of common allelic losses in sporadic renal cell carcinoma is bordered by the loci D3S2 and THRB

scientific article published on 01 November 1991
A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing

scientific article published in December 1997
High resolution SNP array profiling identifies variability in retinoblastoma genome stability

scientific article published on 05 November 2013
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article
Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

scientific article published on 01 April 2003
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

scientific article published on 12 July 2012
A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus

scientific article
Direct molecular analysis of a deletion of 3p in tumors from patients with sporadic renal cell carcinoma

scientific article published on 01 June 1988
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome

scientific article published on 01 September 2002
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article
A post hoc study on gene panel analysis for the diagnosis of dystonia

scientific article published on 10 February 2017
No increased susceptibility to breast cancer from combined CHEK2 1100delC genotype and the HLA class III region risk factors

scientific article published on 01 August 2005
IVF and retinoblastoma revisited

scientific article published on November 23, 2011
Localization of amplified c-myc and n-myc in small cell lung cancer cell lines

scientific article published in March 1989
Variation in mutation spectrum partly explains regional differences in the breast cancer risk of female BRCA mutation carriers in the Netherlands

scientific article
Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain

scientific article published on 24 January 2018
Localization of DNA probes with tight linkage to the cystic fibrosis locus by in situ hybridization using fibroblasts with a 7q22 deletion

scientific article published on 01 October 1988
Localization by in situ hybridization of three 3p probes with respect to the breakpoint in a t(3;8) in hereditary renal cell carcinoma

scientific article published on 01 January 1991
A human glioblastoma line with karyotypic nullisomy 13 containing several chromosome 13-specific sequences

scientific article
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

scientific article
Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers

scientific article
Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia

scientific article published on 01 July 2009
Functional categorization of BRCA1 variants of uncertain clinical significance in homologous recombination repair complementation assays

scientific article published on 16 June 2020
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

scientific article published on 17 September 2020
The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Response

scientific article published on 01 February 2017
Genome analysis of small cell lung cancer (SCLC) and clinical significance

scientific article published on 01 January 1987

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