Thomas Edouard researcher ORCID ID = 0000-0002-9222-5009
Edouard, Thomas, 1973-...., chercheur en médecine
Edouard, Thomas 1973-...
VIAF ID: 199093694 (Personal)
Permalink: http://viaf.org/viaf/199093694
Preferred Forms
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Works
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[3D echocardiography of the ascending aorta in Marfan's syndrome] |
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Compréhension de la physiopathologie de l'hypochondroplasie grâce à son modèle murin (Fgfr3Asn534Lys/+) |
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Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients. |
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Delayed puberty |
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Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre |
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Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. |
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Évaluation osseuse et musculaire des enfants et jeunes adultes présentant un syndrome de Marfan : corrélation avec l'âge et le génotype |
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Extrême petite taille secondaire à un retard de croissance intra-utérin |
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Fonction gonadotrope chez les garçons présentant un syndrome de Noonan |
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Fragilités osseuses primitives de l’enfant et de l’adulte jeune : caractéristiques cliniques, radiologiques, biologiques et génétiques |
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Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling |
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Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. |
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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD) |
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Growth disorders analysis in hypochondroplasia mouse model and its therapeutic approaches. |
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[Growth follow-up of SGA children after 3 years of GH treatment] |
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Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. |
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How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms? |
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Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome |
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Impact sur la signalisation cellulaire des mutations de la tyrosine phosphatase Shp2 associées aux syndromes de Noonan et LEOPARD |
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The International Research Society of Spinal Deformities (IRSSD) and its contribution to science |
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Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature. |
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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome |
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LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity |
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[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm]. |
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Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations. |
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Marfan Sartan: a randomized, double-blind, placebo-controlled trial. |
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MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections |
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[Morgagni-Larrey diaphragmatic hernia in a 3-month-old child affected by Marfan syndrome] |
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Muscle-bone characteristics in children with Prader-Willi syndrome. |
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Musculoskeletal health in patients with Marfan syndrome from childhood to adultood : correlation with age and FBN1 genotype. |
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New molecular mechanisms of growth hormone insensitivity |
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Noonan syndrome: an update on growth and development. |
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Noonan syndrome boys display Sertoli cell-specific primary testicular insufficiency. |
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Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth |
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Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature. |
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Normal puberty |
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OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels |
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[Osteogenesis factors in childhood] |
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Outcome Iof Noonan and LEOPARD Shp2 mutations on signaling pathway. |
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Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation |
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Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature |
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Prevalence of IGF1 deficiency in prepubertal children with isolated short stature. |
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Primary osteoporosis without features of OI in children and young adults : genetic, clinical, biologic and radiological characteristics. |
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Rachitisme carentiel de l’enfant en France : une étude épidémiologique multicentrique, aspects diagnostiques et thérapeutiques |
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The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway |
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[Recommendations for the medical management of aortic complications of Marfan's syndrome] |
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Relationship between vitamin D status and bone mineralization, mass, and metabolism in children with osteogenesis imperfecta: histomorphometric study. |
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[Risks and benefits of oestrogen treatment for tall stature girls] |
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Serum 24,25-dihydroxyvitamin D concentrations in osteogenesis imperfecta: relationship to bone parameters |
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Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene |
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[Severe nutritional rickets in young children: Resurgence of an old disease] |
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Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation. |
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Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol. |
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SHP2 sails from physiology to pathology. |
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Signal strength dictates phosphoinositide 3-kinase contribution to Ras/extracellular signal-regulated kinase 1 and 2 activation via differential Gab1/Shp2 recruitment: consequences for resistance to epidermal growth factor receptor inhibition |
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Le syndrome d'interruption de la tige pituitaire de la naissance à l'âge adulte : évaluation clinique, biologique et radiologique en fonction de la présentation initiale |
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. |
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[Translational studies in children] |
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Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19. |
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