Thomas Edouard

Thomas Edouard

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Thomas Edouard

Thomas Edouard

Publications by authors named "Thomas Edouard"

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Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome.

Arch Cardiovasc Dis 2020 Jan 14;113(1):40-49. Epub 2019 Nov 14.

Department of Paediatric Cardiology and Paediatric Endocrinology, Centre de Référence pour le Syndrome de Marfan et Apparentés, Hôpital des Enfants, CHU Toulouse, 31300 Toulouse, France.

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http://dx.doi.org/10.1016/j.acvd.2019.09.010DOI Listing
January 2020

Catalytic dysregulation of SHP2 leading to Noonan syndromes affects platelet signaling and functions.

Blood 2019 Dec;134(25):2304-2317

Institut des Maladies Métaboliques et Cardiovasculaires, INSERM U1048 and Université Paul Sabatier, Toulouse, France.

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http://dx.doi.org/10.1182/blood.2019001543DOI Listing
December 2019

Acquired von Willebrand's syndrome caused by primary hypothyroidism in a 5-year-old girl.

J Pediatr Endocrinol Metab 2019 Nov;32(11):1295-1298

Paediatric Endocrine Unit, Children's Hospital, Purpan University Hospital, Toulouse, France.

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http://dx.doi.org/10.1515/jpem-2019-0082DOI Listing
November 2019

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

Endocr Rev 2018 10;39(5):676-700

INSERM UMR 1048, Institute of Cardiovascular and Metabolic Diseases (I2MC), University of Toulouse Paul Sabatier, Toulouse, France.

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http://dx.doi.org/10.1210/er.2017-00232DOI Listing
October 2018

Noonan syndrome: an update on growth and development.

Curr Opin Endocrinol Diabetes Obes 2018 02;25(1):67-73

Endocrine, Bone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital.

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http://dx.doi.org/10.1097/MED.0000000000000380DOI Listing
February 2018

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

Clin Case Rep 2017 12 25;5(12):1980-1987. Epub 2017 Oct 25.

Department of Endocrinology and Metabolic Diseases Cardio-Vascular and Metabolic Unit CHU Larrey Toulouse France.

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http://dx.doi.org/10.1002/ccr3.1178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715599PMC
December 2017

What treatment for a child with tall stature?

Authors:
Thomas Edouard

Ann Endocrinol (Paris) 2017 Jun 4;78(2):104-105. Epub 2017 May 4.

Endocrine, Bone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital, 330, avenue de Grande-Bretagne, 31059 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2017.04.007DOI Listing
June 2017

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

J Med Genet 2017 02 31;54(2):100-103. Epub 2016 Aug 31.

Département de Génétique et Centre de Référence Maladies Rares Syndrome de Marfan et pathologies apparentées, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-103996DOI Listing
February 2017

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

Eur J Endocrinol 2016 May 22;174(5):641-50. Epub 2016 Feb 22.

EndocrineBone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital, Toulouse, France INSERM UMR 1043Centre of Pathophysiology of Toulouse Purpan (CPTP), University of Toulouse Paul Sabatier, Toulouse, France

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http://dx.doi.org/10.1530/EJE-15-0922DOI Listing
May 2016

SHP2 sails from physiology to pathology.

Eur J Med Genet 2015 Oct 2;58(10):509-25. Epub 2015 Sep 2.

Institut National de la Santé et de la Recherche Médicale (INSERM), U1048, Toulouse, France; Université de Toulouse, Université Paul Sabatier, Institut des Maladies Métaboliques et Cardiovasculaires, Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.08.005DOI Listing
October 2015

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

J Bone Miner Res 2015 Aug 14;30(8):1369-76. Epub 2015 May 14.

Endocrine, Bone Diseases, and Genetics Unit, Children's Hospital, Toulouse University Hospital, Toulouse, France.

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http://dx.doi.org/10.1002/jbmr.2471DOI Listing
August 2015

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

Eur Heart J 2015 Aug 2;36(32):2160-6. Epub 2015 May 2.

Centre National de Référence pour le syndrome de Marfan et apparentés, Hôpital Bichat, 46 rue Henry Huchard, Paris 75018, France Service de Cardiologie, AP-HP, Hôpital Bichat, Paris, France INSERM LVTS U1148, Paris 75018, France

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http://dx.doi.org/10.1093/eurheartj/ehv151DOI Listing
August 2015

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

Am J Hum Genet 2014 Dec 26;95(6):736-43. Epub 2014 Nov 26.

INSERM U1148, Laboratory for Vascular Translational Science, Hôpital Bichat, Université Paris Diderot, Sorbonne Paris Cité, 75018 Paris, France; AP-HP, Département de Génétique, Hôpital Bichat, 75018 Paris, France; AP-HP, Centre de référence pour les syndromes de Marfan et apparentés, Service de Cardiologie, Hôpital Bichat, 75018 Paris, France; UFR de Médecine, Université Paris Diderot, 75018 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259978PMC
December 2014

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

Proc Natl Acad Sci U S A 2014 Oct 6;111(42):E4494-503. Epub 2014 Oct 6.

Institut National de la Santé et de la Recherche Médicale, U1048, F-31432 Toulouse, France; Institut des Maladies Métaboliques et Cardiovasculaires, Université de Toulouse, Université Paul Sabatier, F-31432 Toulouse, France;

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http://dx.doi.org/10.1073/pnas.1406107111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210352PMC
October 2014

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

J Clin Endocrinol Metab 2012 Apr 8;97(4):1243-9. Epub 2012 Feb 8.

Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, Montréal, Québec, Canada H3G 1A6.

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http://dx.doi.org/10.1210/jc.2011-3015DOI Listing
April 2012

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

Proc Natl Acad Sci U S A 2012 Mar 27;109(11):4257-62. Epub 2012 Feb 27.

Institut National de la Santé et de la Recherche Médicale U1048 and Université Paul Sabatier, Institut des Maladies Métaboliques et Cardiovasculaires, F-31432 Toulouse, France.

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http://dx.doi.org/10.1073/pnas.1119803109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306697PMC
March 2012

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

J Clin Endocrinol Metab 2012 Feb 7;97(2):E275-81. Epub 2011 Dec 7.

Endocrinology Service, Department of Pediatrics, Sainte-Justine University Hospital, and Université de Montréal, Montreal, Quebec, Canada.

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http://publicationslist.org/data/frauch/ref-203/jc.2011-2406
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http://press.endocrine.org/doi/10.1210/jc.2011-2406
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http://dx.doi.org/10.1210/jc.2011-2406DOI Listing
February 2012

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

Mol Cell Endocrinol 2012 Jan 21;348(1):313-21. Epub 2011 Sep 21.

Laboratorio de Biología Molecular, Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, 1113 Buenos Aires, Argentina.

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https://linkinghub.elsevier.com/retrieve/pii/S03037207110055
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http://dx.doi.org/10.1016/j.mce.2011.09.024DOI Listing
January 2012

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

Eur J Pediatr 2011 Dec 20;170(12):1585-90. Epub 2011 Sep 20.

Bone Metabolism Clinic, Department of Pediatrics, Sainte-Justine University Hospital, 3175 Chemin de la Côte Sainte-Catherine, Montreal, QC, H3T1C5, Canada.

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http://link.springer.com/content/pdf/10.1007/s00431-011-1572
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http://link.springer.com/10.1007/s00431-011-1572-9
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http://dx.doi.org/10.1007/s00431-011-1572-9DOI Listing
December 2011

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

J Clin Endocrinol Metab 2011 Oct 10;96(10):3193-8. Epub 2011 Aug 10.

Shriners Hospital for Children and McGill University, Montréal, Québec, Canada.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2011-1480DOI Listing
October 2011

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

J Bone Miner Res 2011 Sep;26(9):2245-51

Shriners Hospital for Children, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/jbmr.413DOI Listing
September 2011

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

Scoliosis 2009 Dec 22;4:28. Epub 2009 Dec 22.

Department of Anatomy, United Arab Emirates University, Faculty of Medicine and Health Sciences, Box 17666, Al Ain, Abu Dhabi, United Arab Emirates.

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http://dx.doi.org/10.1186/1748-7161-4-28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808165PMC
December 2009

[Normal puberty].

Rev Prat 2008 Jun;58(12):1311-6

Unité d'endocrinologie, génétique, pathologie osseuse et gynécologie médicale, hôpital des Enfants, Université Toulouse III, 31059 Toulouse Cedex.

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June 2008

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

Cardiol Young 2007 Feb 22;17(1):95-7. Epub 2006 Dec 22.

Department of Pediatric Cardiology, Hôpital des Enfants, Toulouse, France.

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http://dx.doi.org/10.1017/S1047951106001144DOI Listing
February 2007

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

Am J Cardiol 2007 Feb 14;99(3):406-9. Epub 2006 Dec 14.

Consultation Marfan, Hôpital Ambroise Paré Assistance-Publique Hopitaux de Paris, France.

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http://dx.doi.org/10.1016/j.amjcard.2006.08.048DOI Listing
February 2007