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Year Number of Results
2008 1
2009 1
2011 2
2014 4
2015 1
2017 1
2018 1
2020 1
2023 1
2024 0

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12 results

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Page 1
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
Bonadona V, Bonaïti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Noguès C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frébourg T, Sobol H, Lasset C, Bonaïti-Pellié C; French Cancer Genetics Network. Bonadona V, et al. Among authors: olivier faivre l. JAMA. 2011 Jun 8;305(22):2304-10. doi: 10.1001/jama.2011.743. JAMA. 2011. PMID: 21642682
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Wolfe K, McQuillin A, Alesi V, Boudry Labis E, Cutajar P, Dallapiccola B, Dentici ML, Dieux-Coeslier A, Duban-Bedu B, Duelund Hjortshøj T, Goel H, Loddo S, Morrogh D, Mosca-Boidron AL, Novelli A, Olivier-Faivre L, Parker J, Parker MJ, Patch C, Pelling AL, Smol T, Tümer Z, Vanakker O, van Haeringen A, Vanlerberghe C, Strydom A, Skuse D, Bass N. Wolfe K, et al. Among authors: olivier faivre l. Am J Med Genet B Neuropsychiatr Genet. 2018 Jun;177(4):397-405. doi: 10.1002/ajmg.b.32627. Epub 2018 Mar 31. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29603867 Free PMC article.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. Among authors: olivier faivre l. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D. Heide S, et al. Among authors: olivier faivre l. J Pediatr. 2017 Jun;185:160-166.e1. doi: 10.1016/j.jpeds.2017.02.023. Epub 2017 Mar 8. J Pediatr. 2017. PMID: 28284480
Diversity of the clinical presentation of the MMR gene biallelic mutations.
Bougeard G, Olivier-Faivre L, Baert-Desurmont S, Tinat J, Martin C, Bouvignies E, Vasseur S, Huet F, Couillault G, Vabres P, Le Pessot F, Chapusot C, Malka D, Bressac-de Paillerets B, Tosi M, Frebourg T. Bougeard G, et al. Among authors: olivier faivre l. Fam Cancer. 2014 Mar;13(1):131-5. doi: 10.1007/s10689-013-9676-1. Fam Cancer. 2014. PMID: 24068316
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.
Lhussiez V, Dubus E, Cesar Q, Acar N, Nandrot EF, Simonutti M, Audo I, Lizé E, Nguyen S, Geissler A, Bouchot A, Ansar M, Picaud S, Thauvin-Robinet C, Olivier-Faivre L, Duplomb L, Da Costa R. Lhussiez V, et al. Among authors: olivier faivre l. Invest Ophthalmol Vis Sci. 2020 Sep 1;61(11):18. doi: 10.1167/iovs.61.11.18. Invest Ophthalmol Vis Sci. 2020. PMID: 32915983 Free PMC article.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A. Redin C, et al. Among authors: olivier faivre l. J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28. J Med Genet. 2014. PMID: 25167861 Free PMC article.
[A new prenatal diagnosis case of frontonasal dysplasia].
Guigue V, Martin A, Mangin M, Arbez-Gindre F, Labenne E, Olivier-Faivre L, Ramanah R, Riethmuller D. Guigue V, et al. Among authors: olivier faivre l. J Gynecol Obstet Biol Reprod (Paris). 2011 Sep;40(5):476-80. doi: 10.1016/j.jgyn.2011.01.017. Epub 2011 Mar 8. J Gynecol Obstet Biol Reprod (Paris). 2011. PMID: 21388753 Free article. French.
12 results