Marjoleine F. Broekema

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 19 publications

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy.

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy.

Journal: Journal of internal medicine

Published: September 02, 2026

The identification of a PRKACA duplication at 19p13.12 in a female with PPNAD and thyroid carcinoma after a 20-year diagnostic journey.

The identification of a PRKACA duplication at 19p13.12 in a female with PPNAD and thyroid carcinoma after a 20-year diagnostic journey.

Journal: Familial cancer

Published: March 24, 2026

Clinical characteristics and follow-up of 77 patients with pathogenic fumarate hydratase variants.

Clinical characteristics and follow-up of 77 patients with pathogenic fumarate hydratase variants.

Journal: BJU international

Published: March 19, 2026

A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules

A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules

Journal: Nederlands tijdschrift voor geneeskunde

Published: January 22, 2026

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.

Journal: Journal of medical genetics

Published: September 29, 2025

Epidemiological and clinical data from the European Lipodystrophy Registry.

Epidemiological and clinical data from the European Lipodystrophy Registry.

Journal: European journal of endocrinology

Published: August 02, 2025

AUTS2-related syndrome: Insights from a large European cohort.

AUTS2-related syndrome: Insights from a large European cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 28, 2024

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.

Journal: Neurology. Genetics

Published: April 30, 2024

Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.

Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 29, 2024

A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.

A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.

Journal: Hereditary cancer in clinical practice

Published: July 02, 2023

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 07, 2023

PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation.

PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation.

Journal: Nature communications

Published: March 13, 2022

Showing 1-12 of 19

Last Updated: 09/26/2026