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Page 1
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum.
Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C; PROMISE Working Group; Vabres P, Semple RK, Biesecker LG. Parker VER, et al. Among authors: gautier e. Genet Med. 2019 May;21(5):1189-1198. doi: 10.1038/s41436-018-0297-9. Epub 2018 Oct 1. Genet Med. 2019. PMID: 30270358 Free PMC article.
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. Among authors: gautier e. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603
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: gautier e. 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
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.
Delanne J, Nambot S, Chassagne A, Putois O, Pelissier A, Peyron C, Gautier E, Thevenon J, Cretin E, Bruel AL, Goussot V, Ghiringhelli F, Boidot R, Tran Mau-Them F, Philippe C, Vitobello A, Demougeot L, Vernin C, Lapointe AS, Bardou M, Luu M, Binquet C, Lejeune C, Joly L, Juif C, Baurand A, Sawka C, Bertolone G, Duffourd Y, Sanlaville D, Pujol P, Geneviève D, Houdayer F, Thauvin-Robinet C, Faivre L. Delanne J, et al. Among authors: gautier e. Eur J Med Genet. 2019 Jun;62(6):103529. doi: 10.1016/j.ejmg.2018.08.010. Epub 2018 Aug 28. Eur J Med Genet. 2019. PMID: 30165243 Review.
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.
Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel AL, Chassagne A, Cretin E, Pelissier A, Peyron C, Gautier E, Lehalle D, Jean-Marçais N, Callier P, Mosca-Boidron AL, Vitobello A, Sorlin A, Tran Mau-Them F, Philippe C, Vabres P, Demougeot L, Poé C, Jouan T, Chevarin M, Lefebvre M, Bardou M, Tisserant E, Luu M, Binquet C, Deleuze JF, Verstuyft C, Duffourd Y, Faivre L. Thauvin-Robinet C, et al. Among authors: gautier e. Eur J Hum Genet. 2019 Aug;27(8):1197-1214. doi: 10.1038/s41431-019-0384-7. Epub 2019 Apr 24. Eur J Hum Genet. 2019. PMID: 31019283 Free PMC article.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O'Roak BJ, Faivre L. Chevarin M, et al. Among authors: gautier e. J Med Genet. 2020 Jul;57(7):466-474. doi: 10.1136/jmedgenet-2019-106425. Epub 2020 Apr 10. J Med Genet. 2020. PMID: 32277047
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.
Roux-Levy PH, Bournez M, Masurel A, Jean N, Chancenotte S, Bordes M, Debomy F, Minot D, Schmitt E, Vinault S, Gautier E, Lacombe D, Odent S, Mikaty M, Manouvrier S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Cornaton J, Gallard J, Héron D, Rastel C, Huet F, Thauvin-Robinet C, Verloes A, Binquet C, Tauber M, Lejeune C, Faivre L. Roux-Levy PH, et al. Among authors: gautier e. Eur J Med Genet. 2020 Dec;63(12):104064. doi: 10.1016/j.ejmg.2020.104064. Epub 2020 Sep 28. Eur J Med Genet. 2020. PMID: 32998064
Periodontal disorders in a cohort of patients with Cohen syndrome.
Lafon A, Faivre L, Seux D, Gautier E, Duplomb L, Grogogeat B, Marcelet A, Laforest L. Lafon A, et al. Among authors: gautier e. Spec Care Dentist. 2021 Jan;41(1):118-124. doi: 10.1111/scd.12544. Epub 2020 Nov 17. Spec Care Dentist. 2021. PMID: 33202072
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Van Kien PK, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L. Garde A, et al. Among authors: gautier e. Clin Genet. 2021 May;99(5):650-661. doi: 10.1111/cge.13918. Epub 2021 Jan 20. Clin Genet. 2021. PMID: 33415748
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Among authors: gautier e. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25. Am J Hum Genet. 2007. PMID: 17701892 Free PMC article.
399 results