[PDF][PDF] Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international …
…, BL Loeys, A Child, C Binquet, E Gautier… - The American Journal of …, 2007 - cell.com
Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable …
associated with a wide range of overlapping phenotypes. Clinical care is complicated by variable …
[PDF][PDF] Precursor diversity and complexity of lineage relationships in the outer subventricular zone of the primate
M Betizeau, V Cortay, D Patti, S Pfister, E Gautier… - Neuron, 2013 - cell.com
Long-term ex vivo live imaging combined with unbiased sampling of cycling precursors
shows that macaque outer subventricular zone (OSVZ) includes four distinct basal radial glial (…
shows that macaque outer subventricular zone (OSVZ) includes four distinct basal radial glial (…
Forced G1-phase reduction alters mode of division, neuron number, and laminar phenotype in the cerebral cortex
…, RJ Douglas, M Betizeau, E Gautier… - Proceedings of the …, 2009 - National Acad Sciences
The link between cortical precursors G1 duration (TG1) and their mode of division remains a
major unresolved issue of potential importance for regulating corticogenesis. Here, we …
major unresolved issue of potential importance for regulating corticogenesis. Here, we …
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 …
…, AH Child, C Stheneur, C Binquet, E Gautier… - …, 2009 - publications.aap.org
From a large series of 1009 probands with pathogenic FBN1 mutations, data for 320 patients
<18 years of age at the last follow-up evaluation were analyzed (32%). At the time of …
<18 years of age at the last follow-up evaluation were analyzed (32%). At the time of …
Cardiovascular manifestations in men and women carrying a FBN1 mutation
…, AH Child, BL Loeys, C Binquet, E Gautier… - European heart …, 2010 - academic.oup.com
Aims In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is
becoming more easily available, leading to the identification of mutations early in the course of …
becoming more easily available, leading to the identification of mutations early in the course of …
[HTML][HTML] Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
…, M Bardou, KY Chen, TN Darling, E Gautier… - Genetics in …, 2019 - Elsevier
Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. …
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. …
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
…, BL Loeys, C Binquet, E Gautier… - Journal of medical …, 2008 - jmg.bmj.com
Background: The diagnosis of Marfan syndrome (MFS) is usually initially based on clinical
criteria according to the number of major and minor systems affected following international …
criteria according to the number of major and minor systems affected following international …
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of
CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability …
CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability …
[HTML][HTML] Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation
…, B Callewaert, A Child, C Binquet, E Gautier… - European Journal of …, 2009 - nature.com
Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping
phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast …
phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast …
[HTML][HTML] Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic
criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study …
criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study …