Dimitri Tchernitchko

Paris, France

Last Updated: 09/26/2026

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Found 18 publications

Comment on "Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome-a matched cohort study" by Skarin Nordenvall et al.

Comment on "Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome-a matched cohort study" by Skarin Nordenvall et al.

Journal: British journal of cancer

Published: April 07, 2026

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype-Phenotype Correlation.

CYLD Cutaneous Syndrome: Report of a New Splicing Pathogenic Variant and Additional Evidence Supporting the Absence of Genotype-Phenotype Correlation.

Journal: International journal of dermatology

Published: December 15, 2025

Caution in interpreting in vitro studies of CYLD variants.

Caution in interpreting in vitro studies of CYLD variants.

Journal: The Journal of investigative dermatology

Published: October 24, 2025

Birt-Hogg-Dubé Syndrome and Multiple Myeloma?

Birt-Hogg-Dubé Syndrome and Multiple Myeloma?

Journal: Internal medicine (Tokyo, Japan)

Published: August 13, 2025

FLCN c.1300G>A: Selective advantage in medieval France.

FLCN c.1300G>A: Selective advantage in medieval France.

Journal: Genes & diseases

Published: April 17, 2025

Limited Diagnostic Utility of PRDM10 Analysis in Birt-Hogg-Dubé Syndrome: Experience in 313 Consecutive Patients.

Limited Diagnostic Utility of PRDM10 Analysis in Birt-Hogg-Dubé Syndrome: Experience in 313 Consecutive Patients.

Journal: Clinical genetics

Published: January 20, 2025

Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome.

Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome.

Journal: Journal of medical genetics

Published: August 27, 2024

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.

The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype.

Journal: HGG advances

Published: March 13, 2024

Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients.

Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients.

Journal: Clinical and experimental dermatology

Published: December 14, 2023

Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants.

Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants.

Journal: British journal of haematology

Published: September 07, 2021

ABCB6 polymorphisms are not overly represented in patients with porphyria.

ABCB6 polymorphisms are not overly represented in patients with porphyria.

Journal: Blood advances

Published: June 10, 2021

Novel BMP6 gene mutation in patient with iron overload.

Novel BMP6 gene mutation in patient with iron overload.

Journal: European journal of gastroenterology & hepatology

Published: May 26, 2021

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Last Updated: 09/26/2026