Lista de obras - Thomas Edouard - Dominio Público Uruguay

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

artículo científico publicado en 2008

Bone mineral metabolism: recent data and perspectives related to osteogenesis

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Delayed puberty

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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.

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

New molecular mechanisms of growth hormone insensitivity

artículo científico publicado en 2008

Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Noonan syndrome: an update on growth and development.

artículo científico publicado en 2017

Normal puberty

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado en 2011

SHP2 sails from physiology to pathology.

artículo científico

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

What treatment for a child with tall stature?

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

[Osteogenesis factors in childhood]

artículo científico publicado en 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]

artículo científico publicado en 2009

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

scientific article published on 28 June 2017

[Translational studies in children]

artículo científico publicado en 2009

Lista de obras de 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]