Francoise Bergametti

Paris, France

Last Updated: 09/26/2026

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Found 19 publications

COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults.

COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults.

Journal: Stroke

Published: January 02, 2026

Identity-by-Descent Analysis Uncovering a Founder Event in a Novel Hereditary Small Vessel Cerebral Disease.

Identity-by-Descent Analysis Uncovering a Founder Event in a Novel Hereditary Small Vessel Cerebral Disease.

Journal: Stroke

Published: March 24, 2025

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.

An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.

Journal: JAMA network open

Published: April 17, 2024

Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.

Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: February 08, 2023

Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.

Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.

Journal: Human genomics

Published: December 31, 2022

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

Journal: Brain : a journal of neurology

Published: March 25, 2021

End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.

End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.

Journal: Annals of neurology

Published: March 18, 2021

Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.

Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.

Journal: Journal of medical genetics

Published: June 27, 2019

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

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

Published: May 22, 2019

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy.

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy.

Journal: Stroke

Published: March 26, 2019

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.

Journal: European journal of human genetics : EJHG

Published: January 17, 2017

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.

Journal: Journal of medical genetics

Published: November 04, 2016

Showing 1-12 of 19

Last Updated: 09/26/2026