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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.
Article dans une revue
hal-02000984v1
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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability
Alexandra Gauthier-Vasserot
,
Christel Thauvin-Robinet
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Ange-Line Bruel
,
Yannis Duffourd
,
Judith Saint-Onge
et al.
Article dans une revue
hal-01410416v1
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Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study
Pierre-Henri Roux-Levy
,
Damien Sanlaville
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Benedicte de Freminville
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Renaud Touraine
,
Alice Masurel
et al.
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.
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
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Christoph Marschall
,
Dalil Hamroun
,
Laurence Faivre
et al.
Article dans une revue
inserm-00343886v1
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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.
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.
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.
Article dans une revue
inserm-00343946v1
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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.
Article dans une revue
hal-01595306v1
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High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations
Julien Thevenon
,
Gabriel Laurent
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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.
Article dans une revue
inserm-00396263v1
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CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
Christel Thauvin-Robinet
,
Anne Munck
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Frédéric Huet
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Alix de Becdelièvre
,
Clément Jimenez
et al.
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
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Alice Masurel
,
Nolwenn Jean
,
Sophie Chancenotte
et al.
Article dans une revue
hal-03338019v1
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