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Page 1
Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
Mazel B, Bertolone G, Baurand A, Cosset E, Sawka C, Robert M, Gautier E, Lançon A, Réda M, Favier L, Dérangère V, Richard C, Binquet C, Boidot R, Goussot V, Albuisson J, Ghiringhelli F, Faivre L, Nambot S. Mazel B, et al. Among authors: faivre l. Cancer Med. 2023 Sep;12(18):18786-18796. doi: 10.1002/cam4.6498. Epub 2023 Sep 11. Cancer Med. 2023. PMID: 37694493 Free PMC article.
[Prion diseases in pediatrics].
Sol-Caubel I, Castela F, Brousse V, Faivre L, Guigonis V, Thiriez G, Billette de Villemeur T. Sol-Caubel I, et al. Among authors: faivre l. Arch Pediatr. 1999 Mar;6(3):293-301. doi: 10.1016/S0929-693X(99)80269-3. Arch Pediatr. 1999. PMID: 10191898 Review. French.
Risk factors for heart defects in Down syndrome.
Faivre L, Vekemans M. Faivre L, et al. Teratology. 1999 Mar;59(3):132. doi: 10.1002/(SICI)1096-9926(199903)59:3<132::AID-TERA3>3.0.CO;2-X. Teratology. 1999. PMID: 10194802 No abstract available.
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.
Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Faivre L, et al. Pediatrics. 2009 Jan;123(1):391-8. doi: 10.1542/peds.2008-0703. Pediatrics. 2009. PMID: 19117906 Free article.
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C. Saal S, et al. Among authors: faivre l. Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8. Clin Genet. 2010. PMID: 19817772
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Gauthier-Vasserot A, Thauvin-Robinet C, Bruel AL, Duffourd Y, St-Onge J, Jouan T, Rivière JB, Heron D, Donadieu J, Bellanné-Chantelot C, Briandet C, Huet F, Kuentz P, Lehalle D, Duplomb-Jego L, Gautier E, Maystadt I, Pinson L, Amram D, El Chehadeh S, Melki J, Julia S, Faivre L, Thevenon J. Gauthier-Vasserot A, et al. Among authors: faivre l. Am J Med Genet A. 2017 Jan;173(1):62-71. doi: 10.1002/ajmg.a.37969. Epub 2016 Sep 12. Am J Med Genet A. 2017. PMID: 27615324
The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?
Eliade M, Skrzypski J, Baurand A, Jacquot C, Bertolone G, Loustalot C, Coutant C, Guy F, Fumoleau P, Duffourd Y, Arnould L, Delignette A, Padéano MM, Lepage C, Raichon-Patru G, Boudrant A, Bône-Lépinoy MC, Villing AL, Charpin A, Peignaux K, Chevrier S, Vegran F, Ghiringhelli F, Boidot R, Sevenet N, Lizard S, Faivre L. Eliade M, et al. Among authors: faivre l. Oncotarget. 2017 Jan 10;8(2):1957-1971. doi: 10.18632/oncotarget.12699. Oncotarget. 2017. PMID: 27779110 Free PMC article.
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher JC, Gourraud JB, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L. Baurand A, et al. Among authors: faivre l. Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21. Am J Med Genet A. 2017. PMID: 27868338 Review.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P. Thevenon J, et al. Among authors: faivre l. Europace. 2017 Apr 1;19(4):651-659. doi: 10.1093/europace/euw067. Europace. 2017. PMID: 28431061
760 results