Annemarie H. Van Der Hout

Groningen, GR, Netherlands

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 19 publications

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.

Journal: Neurogenetics
Published: May 17, 2020

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

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

Journal: Neurology. Genetics
Published: May 23, 2017

The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Response.

The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Response.

Journal: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
Published: November 22, 2016

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

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

Journal: Familial cancer
Published: November 09, 2016

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

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

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 17, 2016

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Journal: Nature genetics
Published: June 04, 2016

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

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

Journal: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
Published: February 26, 2016

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Journal: Scientific reports
Published: November 16, 2015

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Journal: JAMA
Published: April 08, 2015

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Journal: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
Published: October 23, 2014

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Journal: PloS one
Published: June 25, 2014

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Journal: American journal of medical genetics. Part A
Published: April 11, 2014
Showing 1-12 of 19

Last Updated: 09/26/2026