Martine J. Van Belzen

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 28 publications

Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease.

Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease.

Journal: Neurobiology of aging

Published: March 27, 2018

Benign and malignant tumors in Rubinstein-Taybi syndrome.

Benign and malignant tumors in Rubinstein-Taybi syndrome.

Journal: American journal of medical genetics. Part A

Published: September 27, 2017

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.

Journal: American journal of medical genetics. Part A

Published: June 30, 2017

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Published: June 16, 2017

Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.

Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.

Journal: Brain : a journal of neurology

Published: May 27, 2017

Huntingtin gene repeat size variations affect risk of lifetime depression.

Huntingtin gene repeat size variations affect risk of lifetime depression.

Journal: Translational psychiatry

Published: May 01, 2017

Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.

Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.

Journal: Translational psychiatry

Published: April 11, 2017

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.

Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Published: March 20, 2017

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.

Journal: Annals of clinical and translational neurology

Published: June 14, 2016

Erratum.

Erratum.

Journal: Molecular genetics & genomic medicine

Published: June 02, 2016

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Journal: American journal of medical genetics. Part A

Published: May 19, 2016

Reply: Late onset Huntington's disease with 29 CAG repeat expansion.

Reply: Late onset Huntington's disease with 29 CAG repeat expansion.

Journal: Journal of the neurological sciences

Published: May 02, 2016

Showing 1-12 of 28

Last Updated: 09/26/2026