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authFullName_s : Elodie Gautier

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Victoria Parker , Kim Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal Oden et al.
Genetics in Medicine, In press, ⟨10.1038/s41436-018-0297-9⟩
Article dans une revue hal-02000984v1

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

Alexandra Gauthier-Vasserot , Christel Thauvin-Robinet , Ange-Line Bruel , Yannis Duffourd , Judith Saint-Onge et al.
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
Article dans une revue hal-01410416v1

Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study

Pierre-Henri Roux-Levy , Damien Sanlaville , Benedicte de Freminville , Renaud Touraine , Alice Masurel et al.
European Journal of Medical Genetics, 2021, 64 (10), ⟨10.1016/j.ejmg.2021.104290⟩
Article dans une revue hal-03403503v1
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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.

Laurence Faivre , Gwenaëlle Collod-Beroud , Bart L. Loeys , Anne H. Child , Christine Binquet et al.
American Journal of Human Genetics, 2007, 81 (3), pp.454-66. ⟨10.1086/520125⟩
Article dans une revue inserm-00344134v1
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The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Melissa Yana Frédéric , Christine Monino , Christoph Marschall , Dalil Hamroun , Laurence Faivre et al.
Human Mutation, 2009, 30 (2), pp.181-90. ⟨10.1002/humu.20794⟩
Article dans une revue inserm-00343886v1

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Martin Chevarin , Yannis Duffourd , Rebecca a Barnard , Sébastien Moutton , François Lecoquierre et al.
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Article dans une revue hal-03619568v1
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Laurence Faivre , Gwenaëlle Collod-Beroud , Bert L. Callewaert , Anne H. Child , Christine Binquet et al.
European Journal of Human Genetics, 2009, 17 (4), pp.491-501. ⟨10.1038/ejhg.2008.207⟩
Article dans une revue inserm-00343925v2
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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Laurence Faivre , Gwenaëlle Collod-Beroud , Anne H. Child , Bert L. Callewaert , Bart L. Loeys et al.
Journal of Medical Genetics, 2008, 45 (6), pp.384-90. ⟨10.1136/jmg.2007.056382⟩
Article dans une revue inserm-00343946v1

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome

Floriane Limoge , Laurence Faivre , Thomas Gautier , Jean-Michel Petit , Elodie Gautier et al.
Human Molecular Genetics, 2015, 24 (23), pp.6603-6613. ⟨10.1093/hmg/ddv366⟩
Article dans une revue hal-01595306v1

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

Julien Thevenon , Gabriel Laurent , Flavie Ader , Pascal Laforêt , Didier Klug et al.
Article dans une revue hal-01444277v1
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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.

Laurence Faivre , Alice Masurel-Paulet , Gwenaëlle Collod-Béroud , Bert L. Callewaert , Anne H. Child et al.
Pediatrics, 2009, 123 (1), pp.391-8. ⟨10.1542/peds.2008-0703⟩
Article dans une revue inserm-00396263v1

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Christel Thauvin-Robinet , Anne Munck , Frédéric Huet , Alix de Becdelièvre , Clément Jimenez et al.
Journal of Medical Genetics, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
Article dans une revue istex hal-02446166v1
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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Pierre-Henri Roux-Levy , Marie Bournez , Alice Masurel , Nolwenn Jean , Sophie Chancenotte et al.
European Journal of Medical Genetics, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
Article dans une revue hal-03338019v1