Brigitte De Paillerets-Bressac
Villejuif, France
Last Updated: 09/26/2026
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Found 53 publications
Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.
Journal: International journal of molecular sciences
Published: October 16, 2024
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Journal: Journal of medical genetics
Published: July 31, 2023
Subungual squamous cell carcinoma in a BAP1 germline pathogenic variant carrier.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: March 19, 2021
Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma.
Journal: European journal of cancer (Oxford, England : 1990)
Published: February 10, 2021
Congenital naevus and melanoma in children: The contribution of genetics
Journal: Annales de dermatologie et de venereologie
Published: September 15, 2020
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Journal: Nucleic acids research
Published: December 22, 2019
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Journal: Journal of medical genetics
Published: August 22, 2019
Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma.
Journal: JAMA dermatology
Published: December 27, 2018
MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.
Journal: The Lancet. Child & adolescent health
Published: November 19, 2018
Last Updated: 09/26/2026