Louise Crivelli
Overview
Explore the profile of Louise Crivelli including associated specialties, affiliations and a list of published articles.
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Articles
7
Citations
39
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0
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Recent Articles
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Margot H, Jones N, Matis T, Bonneau D, Busa T, Bonnet F, et al.
J Med Genet
. 2024 Oct;
61(12):1071-1079.
PMID: 39358013
Background: PTEN hamartoma tumour syndrome (PHTS) encompasses distinct syndromes, including Cowden syndrome resulting from pathogenic variants. Missense variants account for 30% of PHTS cases, but their classification remains challenging. To...
3.
Aucouturier C, Soirat N, Castera L, Bertrand D, Atkinson A, Lavole T, et al.
BMC Genomics
. 2024 Sep;
25(1):909.
PMID: 39350015
Background: Solving the structure of mRNA transcripts is a major challenge for both research and molecular diagnostic purposes. Current approaches based on short-read RNA sequencing and RT-PCR techniques cannot fully...
4.
Zhou K, Bellanger M, Crivelli L, Laham S, Huet C, Abadie C
Oncologist
. 2024 Apr;
29(8):e967-e975.
PMID: 38564263
Background: Risk management programs targeting women with genetic predispositions to breast cancer (BC), eg, BRCA1 and BRCA2, are effective assuming full adherence with the program protocol. However, high risk to...
5.
Caputo S, Golmard L, Leone M, Damiola F, Guillaud-Bataille M, Revillion F, et al.
Am J Hum Genet
. 2021 Oct;
108(10):1907-1923.
PMID: 34597585
Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention...
6.
Lesueur F, Eon-Marchais S, Bonnet-Boissinot S, Beauvallet J, Dondon M, Golmard L, et al.
Cancers (Basel)
. 2021 Aug;
13(15).
PMID: 34359559
Assessment of age-dependent cancer risk for carriers of a predicted pathogenic variant (PPV) is often hampered by biases in data collection, with a frequent under-representation of cancer-free PPV carriers. TUMOSPEC...
7.
Intidhar Labidi-Galy S, de La Motte Rouge T, Derbel O, Wolfer A, Kalbacher E, Olivier T, et al.
Gynecol Oncol
. 2019 Oct;
155(2):262-269.
PMID: 31604666
Objective: To investigate clinical factors associated with prolonged progression-free survival (PFS) and overall survival (OS) in relapsing epithelial ovarian cancer (EOC) patients with BRCA mutations and receiving olaparib as maintenance...
8.
Crivelli L, Bubien V, Jones N, Chiron J, Bonnet F, Barouk-Simonet E, et al.
Eur J Hum Genet
. 2017 May;
25(9):1087-1091.
PMID: 28513612
Cowden syndrome (CS) is an inherited autosomal dominant disorder associated with germline pathogenic variants of the PTEN tumor suppressor gene. Its phenotypical expression is highly variable and the existence of...