List of works - Thomas Edouard

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

scientific article published on 29 October 2008

Bone mineral metabolism: recent data and perspectives related to osteogenesis

scientific article

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

scientific article published on 7 November 2016

Delayed puberty

scientific article published on 4 November 2009

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

scientific article published on 23 February 2022

Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome.

scientific article published on 14 December 2006

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.

scientific article published on 20 September 2011

Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling

scientific article

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

scientific article

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

scientific article published on 11 February 2019

Growth patterns of patients with Noonan syndrome: correlation with age and genotype

scientific article

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

scientific article published on 31 August 2016

How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

scientific article

Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome

scientific article published on 01 July 2007

Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature.

scientific article

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity

scientific article

Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.

scientific article

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

scientific article

Marfan Sartan: a randomized, double-blind, placebo-controlled trial

scientific article published on 2 May 2015

Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype

scientific article published on 14 May 2015

Muscle-bone characteristics in children with Prader-Willi syndrome.

scientific article

New molecular mechanisms of growth hormone insensitivity

scientific article

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency

scientific article published on 01 December 2018

Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth

scientific article published on 01 July 2018

Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.

scientific article published on 27 February 2012

Noonan syndrome: an update on growth and development.

scientific article published on 7 November 2017

Normal puberty

scientific article

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

scientific article published on 01 January 2010

Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation

scientific article published on 12 November 2015

Predictors and correlates of vitamin D status in children and adolescents with osteogenesis imperfecta

scientific article published on 10 August 2011

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

publication published on 09 June 2021

Prevalence of IGF1 deficiency in prepubertal children with isolated short stature.

scientific article published on 5 May 2009

Relationship between vitamin D status and bone mineralization, mass, and metabolism in children with osteogenesis imperfecta: histomorphometric study.

scientific article

SHP2 sails from physiology to pathology.

scientific article published on 02 September 2015

Serum 24,25-dihydroxyvitamin D concentrations in osteogenesis imperfecta: relationship to bone parameters

scientific article published on 08 February 2012

Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene

scientific article published on 22 December 2006

Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation

scientific article published on 25 October 2017

Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol.

scientific article published on 6 October 2010

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

scientific article published on 19 November 2007

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

scientific article published on 18 March 2013

The International Research Society of Spinal Deformities (IRSSD) and its contribution to science

scientific article

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway

scientific article published on 01 October 2018

Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19.

scientific article published on 21 September 2011

What treatment for a child with tall stature?

scientific article published on 4 May 2017

[3D echocardiography of the ascending aorta in Marfan's syndrome]

scientific article published on 01 May 2005

[Growth follow-up of SGA children after 3 years of GH treatment]

scientific article published on 18 January 2008

[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].

scientific article published on 24 March 2016

[Morgagni-Larrey diaphragmatic hernia in a 3-month-old child affected by Marfan syndrome]

scientific article published on 01 November 2015

[Osteogenesis factors in childhood]

scientific article published on 01 June 2009

[Recommendations for the medical management of aortic complications of Marfan's syndrome]

scientific article published on 01 May 2006

[Risks and benefits of oestrogen treatment for tall stature girls]

scientific article published on 01 June 2009

[Severe nutritional rickets in young children: Resurgence of an old disease]

scientific article published on 28 June 2017

[Translational studies in children]

scientific article published on 01 June 2009

List of works by Thomas Edouard

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Bone mineral metabolism: recent data and perspectives related to osteogenesis

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Delayed puberty

Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre

Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome.

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.

Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Growth patterns of patients with Noonan syndrome: correlation with age and genotype

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

Identification of a novel mutation in the human growth hormone receptor gene (GHR) in a patient with Laron syndrome

Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature.

LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity

Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

Marfan Sartan: a randomized, double-blind, placebo-controlled trial

Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype

Muscle-bone characteristics in children with Prader-Willi syndrome.

New molecular mechanisms of growth hormone insensitivity

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency

Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth

Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.

Noonan syndrome: an update on growth and development.

Normal puberty

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation

Predictors and correlates of vitamin D status in children and adolescents with osteogenesis imperfecta

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

Prevalence of IGF1 deficiency in prepubertal children with isolated short stature.

Relationship between vitamin D status and bone mineralization, mass, and metabolism in children with osteogenesis imperfecta: histomorphometric study.

SHP2 sails from physiology to pathology.

Serum 24,25-dihydroxyvitamin D concentrations in osteogenesis imperfecta: relationship to bone parameters

Severe aortic valvar stenosis in familial Noonan syndrome with mutation of the PTPN11 gene

Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation

Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol.

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

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

The International Research Society of Spinal Deformities (IRSSD) and its contribution to science

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway

Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19.

What treatment for a child with tall stature?

[3D echocardiography of the ascending aorta in Marfan's syndrome]

[Growth follow-up of SGA children after 3 years of GH treatment]

[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].

[Morgagni-Larrey diaphragmatic hernia in a 3-month-old child affected by Marfan syndrome]

[Osteogenesis factors in childhood]

[Recommendations for the medical management of aortic complications of Marfan's syndrome]

[Risks and benefits of oestrogen treatment for tall stature girls]

[Severe nutritional rickets in young children: Resurgence of an old disease]

[Translational studies in children]