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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Rapid Free Communications

Growth : Mechanisms

Important Contribution of GH, GHRHR and GHSR Mutations in Isolated Growth Hormone Deficiency with a Normal Location of the Posterior Pituitary -Functional Characterization of New Variants
aInserm UMR_S933 and UPMC Univ Paris 06, Hôpital Trousseau, Paris, F-75012, France; bU.F. de Génétique clinique et moléculaire, AP-HP, Hôpital Trousseau, Paris, F-75012, France
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Contribution of GHR and IGFALS Mutations to Growth Hormone Resistance - Identification of New Variants and Impact on the Inheritance Pattern
aInserm UMR_S933 and UPMC Université Paris 06, Hôpital Trousseau, Paris, F-75012, France; bU.F. de Génétique moléculaire, Hôpital Trousseau, AP-HP, Paris, F-75012, France; cService de Pédiatrie, CH du Pays d’Aix, Aix en Provence 13616, France; dPaediatric Diabetes and Endocrine Service, John Hunter Children’s Hospital, New Lambton Heights NSW 2305, Australia; eClinique Médicale Pédiatrique, CHU de Nantes, Nantes 44093, France; fExplorations fonctionnelles endocriniennes, Hôpital Trousseau, AP-HP, Paris, F-75012, France; gCenter of Medical Genetics, Ghent University Hospital, Ghent B-900, Belgium; hService d’endocrinologie diabétologie, Hôpital Jeanne de Flandres, Lille, F-59000, France; iPediatrie, UZ Gent, Ghent B-900, Belgium; jEndocrinologie Pédiatrique, Hôpital de Bab El Oued, Alger, Algeria; kClinica Pediatrie I, Cluj 400370, Romania; lService d’Endocrinologie pédiatrique, Hôpital Necker, AP-HP, Paris, F-75015, France; mPediatrics Endocrinology, Karolinska Hospital, Stockholm, Sweden; nEndocrinologie Diabétologie Pédiatrique, Rabat 10000, Morocco
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Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel
aUnidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brazil; bUnidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brazil; cDepartment of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Harbor, MI 48109, USA
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Gene Expression Profiling of Children with GH Deficiency (GHD) Prior to Treatment with Recombinant Human Growth Hormone (r-hGH) is Associated with Growth Response Over Five Years of Therapy
aUniversity of Manchester and Royal Manchester Children’s Hospital, Manchester, UK; bMerck KGaA, Darmstadt, Germany; cUniversité Claude Bernard, Lyon, France
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Effect of Small Size at Birth, Adult Body Size and Growth Hormone Treatment on Telomere Length
aDepartment of Pediatrics, Erasmus Medical Centre, Rotterdam, The Netherlands; bDutch Growth Research Foundation, Rotterdam, The Netherlands; cDepartment of Cardiovascular Sciences, University of Leicester, Leicester, UK; dNIHR Leicester Cardiovascular Biomedical Research Unit, Glenfield Hospital, Leicester, UK
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GH Influences Plasma Fasting Adropin Concentration in Patients with Turner Syndrome
aDepartment of Endocrinology, Diabetology for Children and Adolescents, Wroclaw Medical University, Wroclaw, Poland; bFourth Military Hospital, Wroclaw, Poland; cDepartment of Endocrinology, Diabetes and Isotope Therapy, Wroclaw Medical University, Wroclaw, Poland
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ACAN Mutations in Short Children Born SGA; Growth Response During GH Treatment with Additional GnRHa, and a Proposed Clinical Scoring System
aDutch Growth Research Foundation, Rotterdam, The Netherlands; bErasmus University Medical Center- Sophia Children’s Hospital, Rotterdam, The Netherlands
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