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Alexandra Kiess
Alexandra Kiess
Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany
Department of Child and Adolescent Medicine, Section of Pediatric Cardiology, University Hospital Jena, Am Klinikum, Jena, Germany
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Department of Child and Adolescent Medicine, Section of Pediatric Cardiology, University Hospital Jena, Am Klinikum, Jena, Germany
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Jessica Green
Jessica Green
Alder Hey Children's NHS Foundation Trust, Pediatric Intensive Care Unit, Eaton Road Liverpool, Great Britain
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Anja Willenberg
Anja Willenberg
Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Uta Ceglarek
Uta Ceglarek
Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Ingo Dähnert
Ingo Dähnert
Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany
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Wieland Kiess
Wieland Kiess
LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Mandy Vogel
Mandy Vogel
LIFE Leipzig Research Center for Civilization Diseases, University of Leipzig, Philipp-Rosenthal-Strasse, Leipzig, Germany
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
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-BP1/IGF-1-ratio with NT-proBNP were seen in patients with and without HF ( 4 ); in a cohort of pediatric and adult patients with Fontan physiology, higher BNP was associated with lower IGF-1 Z scores ( 5 ) and in 30 pediatric patients with congenital
Lukas Plachy
Lukas Plachy
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Petruzelkova
Lenka Petruzelkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Petra Dusatkova
Petra Dusatkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Klara Maratova
Klara Maratova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Dana Zemkova
Dana Zemkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Lenka Elblova
Lenka Elblova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Vit Neuman
Vit Neuman
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stanislava Kolouskova
Stanislava Kolouskova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Barbora Obermannova
Barbora Obermannova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Marta Snajderova
Marta Snajderova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Zdenek Sumnik
Zdenek Sumnik
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Jan Lebl
Jan Lebl
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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Stepanka Pruhova
Stepanka Pruhova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
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and HESX1 ) that could cause FSS and multiple pituitary hormone deficiency ( 14 , 15 ). Insensitivity to GH (IGF deficiency and IGF resistance) may also be inherited in an AD manner (e.g., IGF1R , GHR and STAT5B genes) ( 2 , 16 ). Despite the
Patrizia Bruzzi
Patrizia Bruzzi
Department of Medical and Surgical Sciences of Mothers, Children and Adults, University of Modena & Reggio Emilia, Paediatric Unit, Modena, Italy
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Silvia Vannelli
Silvia Vannelli
Pediatric Endocrinologic Unit, Regina Margherita Children’s Hospital, Turin, Italy
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Emanuela Scarano
Emanuela Scarano
Unit of Pediatrics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy
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Natascia Di Iorgi
Natascia Di Iorgi
Department of Pediatrics, IRCCS Istituto Giannina Gaslini, University of Genova, Genova, Italy
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Maria Parpagnoli
Maria Parpagnoli
Anna Meyer Children's University Hospital, Florence, Italy
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MariaCarolina Salerno
MariaCarolina Salerno
Department of Translational Medicine, University Federico II, Naples, Italy
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Marco Pitea
Marco Pitea
Pediatric Unit, Ospedale San Raffaele, Milano, Italy
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Maria Elisabeth Street
Maria Elisabeth Street
Division of Paediatric Endocrinology and Diabetology, Paediatrics, Department of Mother and Child-AUSL of Reggio Emilia-IRCCS, Reggio Emilia, Italy
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Andrea Secco
Andrea Secco
Pediatric Unit, Azienda ospedaliero Nazionale SS Antonio e Biagio e Cesare Arrigo, Alessandria, Italy
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Adolfo Andrea Trettene
Adolfo Andrea Trettene
Pediatric Unit, ASST Sette Laghi, Varese, Italy
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Malgorzata Wasniewska
Malgorzata Wasniewska
Department of Human Pathology in Adulthood and Childhood, University of Messina, Messina, Italy
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Nicola Corciulo
Nicola Corciulo
Pediatric Unit, P.O. Gallipoli, ASL Lecce, Italy
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Gianluca Tornese
Gianluca Tornese
Institute for maternal and child health IRCCS Burlo Garofalo, Trieste, Italy
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Maria Felicia Faienza
Maria Felicia Faienza
DAI Scienze Chirurgiche e Pediatriche, Ospedale Pediatrico Giovanni XXIII, Bari, Italy
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Maurizio Delvecchio
Maurizio Delvecchio
U.O. Malattie Metaboliche e Genetiche e Diabetologia, Ospedale Pediatrico Giovanni XXIII, Bari, Italy
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Simona Filomena Madeo
Simona Filomena Madeo
Department of Medical and Surgical Sciences of Mothers, Children and Adults, University of Modena & Reggio Emilia, Paediatric Unit, Modena, Italy
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Lorenzo Iughetti
Lorenzo Iughetti
Department of Medical and Surgical Sciences of Mothers, Children and Adults, University of Modena & Reggio Emilia, Paediatric Unit, Modena, Italy
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verified and collected at each study time. All patients were submitted to rhGH treatment according to the Italian Agency for Drugs guidelines ( 25 ). Biochemical analysis Fasting glucose, insulin and insulin-like growth factor 1 (IGF1) values were
Nathalia Liberatoscioli Menezes Andrade
Nathalia Liberatoscioli Menezes Andrade
Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
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Mariana Ferreira de Assis Funari
Mariana Ferreira de Assis Funari
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Alexsandra Christianne Malaquias
Alexsandra Christianne Malaquias
Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil
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Paulo Ferrez Collett-Solberg
Paulo Ferrez Collett-Solberg
Disciplina de Endocrinologia, Departamento de Medicina Interna, Faculdade de Ciências Medicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brasil
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Nathalia L R A Gomes
Nathalia L R A Gomes
Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil
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Renata Scalco
Renata Scalco
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
Departamento de Medicina, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil
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Departamento de Medicina, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil
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Naiara Castelo Branco Dantas
Naiara Castelo Branco Dantas
Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
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Raissa C Rezende
Raissa C Rezende
Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
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Angelica M F P Tiburcio
Angelica M F P Tiburcio
Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil
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Micheline A R Souza
Micheline A R Souza
Serviço de Endocrinologia do Instituto de Puericultura e Pediatria Martagao Gesteira/Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil
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Bruna L Freire
Bruna L Freire
Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Ana C V Krepischi
Ana C V Krepischi
Centro de Pesquisa em Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de Sao Paulo, São Paulo, Brasil
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Carlos Alberto Longui
Carlos Alberto Longui
Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil
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Antonio Marcondes Lerario
Antonio Marcondes Lerario
Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA
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Ivo J P Arnhold
Ivo J P Arnhold
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Alexander A L Jorge
Alexander A L Jorge
Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Gabriela Andrade Vasques
Gabriela Andrade Vasques
Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
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short stature in patients initially classified as ISS ( 7 ). The genetic defects associated with ISS are mainly located in genes that regulate the endochondral ossification process in the growth plate and in genes related to the GH–IGF-1 axis ( 8 , 9
Danielle Christine Maria van der Kaay
Danielle Christine Maria van der Kaay
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Anne Rochtus
Anne Rochtus
Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium
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Gerhard Binder
Gerhard Binder
University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany
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Ingo Kurth
Ingo Kurth
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Dirk Prawitt
Dirk Prawitt
Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany
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Irène Netchine
Irène Netchine
Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
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Gudmundur Johannsson
Gudmundur Johannsson
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Anita C S Hokken-Koelega
Anita C S Hokken-Koelega
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Miriam Elbracht
Miriam Elbracht
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Thomas Eggermann
Thomas Eggermann
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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radiologic and clinical examinations suggest an endocrine cause of the growth disturbance, growth hormone stimulation tests (GHSTs), serum insulin-like growth factor (IGF1), and sometimes an IGF1 generation test are used to investigate the growth hormone (GH)–IGF
Alberto Battezzati
Alberto Battezzati
International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy
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Andrea Foppiani
Andrea Foppiani
International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy
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Gianfranco Alicandro
Gianfranco Alicandro
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Arianna Bisogno
Arianna Bisogno
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Arianna Biffi
Arianna Biffi
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Giorgio Bedogni
Giorgio Bedogni
Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna, Italy
Internal Medicine, S. Maria delle Croci Hospital, AUSL Romagna, Ravenna, Italy
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Internal Medicine, S. Maria delle Croci Hospital, AUSL Romagna, Ravenna, Italy
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Simona Bertoli
Simona Bertoli
International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy
Istituto Auxologico Italiano, IRCCS, Obesity Unit - Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Milan, Italy
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Istituto Auxologico Italiano, IRCCS, Obesity Unit - Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, Milan, Italy
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Giulia De Carlo
Giulia De Carlo
International Center for the Assessment of Nutritional Status, DeFENS, University of Milan, Milan, Italy
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Erica Nazzari
Erica Nazzari
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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Carla Colombo
Carla Colombo
Cystic Fibrosis Center, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda, Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
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studies in type 1 diabetes and in healthy subjects. According to mechanistic studies, insulin is one of the main regulators of growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis ( 21 ), frequently involved in growth failure associated with
Mireille N M van Poppel
Mireille N M van Poppel
Institute of Human Movement Sciences, Sport and Health, University of Graz, Graz, Austria
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Christopher J Nolan
Christopher J Nolan
Department of Endocrinology at The Canberra Hospital and the Australian National University School of Medicine and Psychology, Canberra, ACT, Australia
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Gernot Desoye
Gernot Desoye
Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria
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( 49 ). Insulin acts on lean body growth either directly, or indirectly by inducing hepatic IGF-1 production and secretion and fat mass accrual through direct action. In normal human pregnancies, cord blood C-peptide, and by inference insulin, levels
Rebeca Esquivel-Zuniga
Rebeca Esquivel-Zuniga
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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, growth hormone; GI, gastrointestinal; GnRH, gonadotropin-releasing hormone; hCG, human chorionic gonadotropin; IGF-1, insulin-like growth factor 1; LH, luteinizing hormone; MRI, magnetic resonance imaging ( 3 ). From New England Journal of Medicine
