Search Results
Page:12
Sommayya Aftab
Sommayya Aftab
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Sommayya Aftab in
Google Scholar
PubMed
Search for other papers by Sommayya Aftab in
Google Scholar
PubMed
Diliara Gubaeva
Diliara Gubaeva
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
Search for other papers by Diliara Gubaeva in
Google Scholar
PubMed
Search for other papers by Diliara Gubaeva in
Google Scholar
PubMed
Jayne A L Houghton
Jayne A L Houghton
The Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK
Search for other papers by Jayne A L Houghton in
Google Scholar
PubMed
Search for other papers by Jayne A L Houghton in
Google Scholar
PubMed
Antonia Dastamani
Antonia Dastamani
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Antonia Dastamani in
Google Scholar
PubMed
Search for other papers by Antonia Dastamani in
Google Scholar
PubMed
Ellada Sotiridou
Ellada Sotiridou
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Ellada Sotiridou in
Google Scholar
PubMed
Search for other papers by Ellada Sotiridou in
Google Scholar
PubMed
Clare Gilbert
Clare Gilbert
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Clare Gilbert in
Google Scholar
PubMed
Search for other papers by Clare Gilbert in
Google Scholar
PubMed
Sarah E Flanagan
Sarah E Flanagan
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Search for other papers by Sarah E Flanagan in
Google Scholar
PubMed
Search for other papers by Sarah E Flanagan in
Google Scholar
PubMed
Anatoly Tiulpakov
Anatoly Tiulpakov
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
Search for other papers by Anatoly Tiulpakov in
Google Scholar
PubMed
Search for other papers by Anatoly Tiulpakov in
Google Scholar
PubMed
Maria Melikyan
Maria Melikyan
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
Search for other papers by Maria Melikyan in
Google Scholar
PubMed
Search for other papers by Maria Melikyan in
Google Scholar
PubMed
Pratik Shah
Pratik Shah
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Pratik Shah in
Google Scholar
PubMed
Search for other papers by Pratik Shah in
Google Scholar
PubMed
Introduction Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common cause of congenital hyperinsulinism (CHI) after ABCC8/KCNJ11 mutations. It is caused due to an activating mutation in the GLUD1 gene, which is located
Muriel Houang
Muriel Houang
Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Search for other papers by Muriel Houang in
Google Scholar
PubMed
Search for other papers by Muriel Houang in
Google Scholar
PubMed
Thao Nguyen-Khoa
Thao Nguyen-Khoa
Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Search for other papers by Thao Nguyen-Khoa in
Google Scholar
PubMed
Search for other papers by Thao Nguyen-Khoa in
Google Scholar
PubMed
Thibaut Eguether
Thibaut Eguether
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Thibaut Eguether in
Google Scholar
PubMed
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Thibaut Eguether in
Google Scholar
PubMed
Bettina Ribault
Bettina Ribault
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Bettina Ribault in
Google Scholar
PubMed
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Bettina Ribault in
Google Scholar
PubMed
Séverine Brabant
Séverine Brabant
Laboratoire d’Explorations Fonctionnelles, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Search for other papers by Séverine Brabant in
Google Scholar
PubMed
Search for other papers by Séverine Brabant in
Google Scholar
PubMed
Michel Polak
Michel Polak
Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Université de Paris, INSERM, Institut IMAGINE, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
Search for other papers by Michel Polak in
Google Scholar
PubMed
Université de Paris, INSERM, Institut IMAGINE, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
Search for other papers by Michel Polak in
Google Scholar
PubMed
Irène Netchine
Irène Netchine
Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Search for other papers by Irène Netchine in
Google Scholar
PubMed
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Search for other papers by Irène Netchine in
Google Scholar
PubMed
Antonin Lamazière
Antonin Lamazière
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Antonin Lamazière in
Google Scholar
PubMed
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France
Search for other papers by Antonin Lamazière in
Google Scholar
PubMed
Introduction The newborn screening program (NBS) for congenital adrenal hyperplasia (CAH) presents a number of issues in the context of the prevention of life-threatening salt wasting crises and subsequent collapse. This neonatal period is
Nathalia G B P Ferreira
Nathalia G B P Ferreira
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Nathalia G B P Ferreira in
Google Scholar
PubMed
Search for other papers by Nathalia G B P Ferreira in
Google Scholar
PubMed
Joao L O Madeira
Joao L O Madeira
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Joao L O Madeira in
Google Scholar
PubMed
Search for other papers by Joao L O Madeira in
Google Scholar
PubMed
Peter Gergics
Peter Gergics
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
Search for other papers by Peter Gergics in
Google Scholar
PubMed
Search for other papers by Peter Gergics in
Google Scholar
PubMed
Renata Kertsz
Renata Kertsz
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Renata Kertsz in
Google Scholar
PubMed
Search for other papers by Renata Kertsz in
Google Scholar
PubMed
Juliana M Marques
Juliana M Marques
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Juliana M Marques in
Google Scholar
PubMed
Search for other papers by Juliana M Marques in
Google Scholar
PubMed
Nicholas S S Trigueiro
Nicholas S S Trigueiro
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Nicholas S S Trigueiro in
Google Scholar
PubMed
Search for other papers by Nicholas S S Trigueiro in
Google Scholar
PubMed
Anna Flavia Figueredo Benedetti
Anna Flavia Figueredo Benedetti
University of Michigan Medical School, Department of Human Genetics, Ann Arbor, Michigan, United States
Search for other papers by Anna Flavia Figueredo Benedetti in
Google Scholar
PubMed
Search for other papers by Anna Flavia Figueredo Benedetti in
Google Scholar
PubMed
Bruna V Azevedo
Bruna V Azevedo
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Bruna V Azevedo in
Google Scholar
PubMed
Search for other papers by Bruna V Azevedo in
Google Scholar
PubMed
Bianca H V Fernandes
Bianca H V Fernandes
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil
Search for other papers by Bianca H V Fernandes in
Google Scholar
PubMed
Universidade de São Paulo, Zebrafish Facility, São Paulo, São Paulo, Brazil
Search for other papers by Bianca H V Fernandes in
Google Scholar
PubMed
Debora D Bissegatto
Debora D Bissegatto
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Debora D Bissegatto in
Google Scholar
PubMed
Search for other papers by Debora D Bissegatto in
Google Scholar
PubMed
Isabela P Biscotto
Isabela P Biscotto
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Isabela P Biscotto in
Google Scholar
PubMed
Search for other papers by Isabela P Biscotto in
Google Scholar
PubMed
Qing Fang
Qing Fang
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
Search for other papers by Qing Fang in
Google Scholar
PubMed
Search for other papers by Qing Fang in
Google Scholar
PubMed
Qianyi Ma
Qianyi Ma
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
Search for other papers by Qianyi Ma in
Google Scholar
PubMed
Search for other papers by Qianyi Ma in
Google Scholar
PubMed
Asye B Ozel
Asye B Ozel
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
Search for other papers by Asye B Ozel in
Google Scholar
PubMed
Search for other papers by Asye B Ozel in
Google Scholar
PubMed
Jun Li
Jun Li
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
Search for other papers by Jun Li in
Google Scholar
PubMed
Search for other papers by Jun Li in
Google Scholar
PubMed
Sally A Camper
Sally A Camper
Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, Brazil
Search for other papers by Sally A Camper in
Google Scholar
PubMed
Search for other papers by Sally A Camper in
Google Scholar
PubMed
Alexander A L Jorge
Alexander A L Jorge
Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
Search for other papers by Alexander A L Jorge in
Google Scholar
PubMed
Search for other papers by Alexander A L Jorge in
Google Scholar
PubMed
Berenice B Mendonça
Berenice B Mendonça
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Berenice B Mendonça in
Google Scholar
PubMed
Search for other papers by Berenice B Mendonça in
Google Scholar
PubMed
Ivo J P Arnhold
Ivo J P Arnhold
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Ivo J P Arnhold in
Google Scholar
PubMed
Search for other papers by Ivo J P Arnhold in
Google Scholar
PubMed
Luciani R Carvalho
Luciani R Carvalho
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil
Search for other papers by Luciani R Carvalho in
Google Scholar
PubMed
Search for other papers by Luciani R Carvalho in
Google Scholar
PubMed
cell proliferation and differentiation ( 1 ). Defects in the genes that control these processes can cause congenital hypopituitarism, which is defined as the deficiency of one or more pituitary hormones. Congenital growth hormone deficiency (GHD
Luca Persani
Luca Persani
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Search for other papers by Luca Persani in
Google Scholar
PubMed
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Search for other papers by Luca Persani in
Google Scholar
PubMed
Martine Cools
Martine Cools
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
Search for other papers by Martine Cools in
Google Scholar
PubMed
Search for other papers by Martine Cools in
Google Scholar
PubMed
Stamatina Ioakim
Stamatina Ioakim
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Search for other papers by Stamatina Ioakim in
Google Scholar
PubMed
Search for other papers by Stamatina Ioakim in
Google Scholar
PubMed
S Faisal Ahmed
S Faisal Ahmed
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
Search for other papers by S Faisal Ahmed in
Google Scholar
PubMed
Search for other papers by S Faisal Ahmed in
Google Scholar
PubMed
Silvia Andonova
Silvia Andonova
National Genetic Laboratory, UHOG “Maichin dom", Medical University, Sofia, Bulgaria
Search for other papers by Silvia Andonova in
Google Scholar
PubMed
Search for other papers by Silvia Andonova in
Google Scholar
PubMed
Magdalena Avbelj-Stefanija
Magdalena Avbelj-Stefanija
Department for Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
Search for other papers by Magdalena Avbelj-Stefanija in
Google Scholar
PubMed
Search for other papers by Magdalena Avbelj-Stefanija in
Google Scholar
PubMed
Federico Baronio
Federico Baronio
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Search for other papers by Federico Baronio in
Google Scholar
PubMed
Search for other papers by Federico Baronio in
Google Scholar
PubMed
Jerome Bouligand
Jerome Bouligand
Université Paris-Saclay, Inserm UMRS1185 & Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, France
Search for other papers by Jerome Bouligand in
Google Scholar
PubMed
Search for other papers by Jerome Bouligand in
Google Scholar
PubMed
Hennie T Bruggenwirth
Hennie T Bruggenwirth
Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
Search for other papers by Hennie T Bruggenwirth in
Google Scholar
PubMed
Search for other papers by Hennie T Bruggenwirth in
Google Scholar
PubMed
Justin H Davies
Justin H Davies
Faculty of Medicine, University of Southampton, Southampton, United Kingdom
Search for other papers by Justin H Davies in
Google Scholar
PubMed
Search for other papers by Justin H Davies in
Google Scholar
PubMed
Elfride De Baere
Elfride De Baere
Departments of Internal Medicine and Paediatrics and of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
Search for other papers by Elfride De Baere in
Google Scholar
PubMed
Search for other papers by Elfride De Baere in
Google Scholar
PubMed
Iveta Dzivite-Krisane
Iveta Dzivite-Krisane
Children’s University Hospital, Riga, Latvia
Search for other papers by Iveta Dzivite-Krisane in
Google Scholar
PubMed
Search for other papers by Iveta Dzivite-Krisane in
Google Scholar
PubMed
Paula Fernandez-Alvarez
Paula Fernandez-Alvarez
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
Search for other papers by Paula Fernandez-Alvarez in
Google Scholar
PubMed
Search for other papers by Paula Fernandez-Alvarez in
Google Scholar
PubMed
Alexander Gheldof
Alexander Gheldof
Center for Medical Genetics, Vrije Universiteit Brussel, Universitair Ziekenhuis Brussel, Brussels, Belgium
Search for other papers by Alexander Gheldof in
Google Scholar
PubMed
Search for other papers by Alexander Gheldof in
Google Scholar
PubMed
Claudia Giavoli
Claudia Giavoli
Unit of Endocrinology, Fondazione IRCCS Ospedale Maggiore Policlinico, Milano, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by Claudia Giavoli in
Google Scholar
PubMed
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
Search for other papers by Claudia Giavoli in
Google Scholar
PubMed
Claus H Gravholt
Claus H Gravholt
Departments of Endocrinology, of Clinical Medicine and of Molecular Medicine, Aarhus University, Aarhus, Denmark
Search for other papers by Claus H Gravholt in
Google Scholar
PubMed
Search for other papers by Claus H Gravholt in
Google Scholar
PubMed
Olaf Hiort
Olaf Hiort
University Hospital Schleswig-Holstein, Campus Lübeck, and University of Lübeck, Lübeck, Germany
Search for other papers by Olaf Hiort in
Google Scholar
PubMed
Search for other papers by Olaf Hiort in
Google Scholar
PubMed
Paul-Martin Holterhus
Paul-Martin Holterhus
University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany
Search for other papers by Paul-Martin Holterhus in
Google Scholar
PubMed
Search for other papers by Paul-Martin Holterhus in
Google Scholar
PubMed
Anders Juul
Anders Juul
Departments of Growth and Reproduction and of Clinical Medicine, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
Search for other papers by Anders Juul in
Google Scholar
PubMed
Search for other papers by Anders Juul in
Google Scholar
PubMed
Csilla Krausz
Csilla Krausz
Endocrinology and Andrology Units, University Hospital of Careggi and Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, Florence, Italy
Search for other papers by Csilla Krausz in
Google Scholar
PubMed
Search for other papers by Csilla Krausz in
Google Scholar
PubMed
Kristina Lagerstedt-Robinson
Kristina Lagerstedt-Robinson
Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden
Search for other papers by Kristina Lagerstedt-Robinson in
Google Scholar
PubMed
Search for other papers by Kristina Lagerstedt-Robinson in
Google Scholar
PubMed
Ruth McGowan
Ruth McGowan
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
Search for other papers by Ruth McGowan in
Google Scholar
PubMed
West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom
Search for other papers by Ruth McGowan in
Google Scholar
PubMed
Uta Neumann
Uta Neumann
Charité Medicine University, Berlin, Germany
Search for other papers by Uta Neumann in
Google Scholar
PubMed
Search for other papers by Uta Neumann in
Google Scholar
PubMed
Antonio Novelli
Antonio Novelli
Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy
Search for other papers by Antonio Novelli in
Google Scholar
PubMed
Search for other papers by Antonio Novelli in
Google Scholar
PubMed
Xavier Peyrassol
Xavier Peyrassol
Universitè Libre di Bruxelles, Brussels, Belgium
Search for other papers by Xavier Peyrassol in
Google Scholar
PubMed
Search for other papers by Xavier Peyrassol in
Google Scholar
PubMed
Leonidas A Phylactou
Leonidas A Phylactou
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Search for other papers by Leonidas A Phylactou in
Google Scholar
PubMed
Search for other papers by Leonidas A Phylactou in
Google Scholar
PubMed
Julia Rohayem
Julia Rohayem
University Hospital Münster, Munster, Germany
Search for other papers by Julia Rohayem in
Google Scholar
PubMed
Search for other papers by Julia Rohayem in
Google Scholar
PubMed
Philippe Touraine
Philippe Touraine
Center for Rare Endocrine and Gynecological Disorders, Department of endocrinology and reproductive Medicine, Hospital Pitié Salpêtrière, Paris, France
Search for other papers by Philippe Touraine in
Google Scholar
PubMed
Search for other papers by Philippe Touraine in
Google Scholar
PubMed
Dineke Westra
Dineke Westra
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Search for other papers by Dineke Westra in
Google Scholar
PubMed
Search for other papers by Dineke Westra in
Google Scholar
PubMed
Valeria Vezzoli
Valeria Vezzoli
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Search for other papers by Valeria Vezzoli in
Google Scholar
PubMed
Search for other papers by Valeria Vezzoli in
Google Scholar
PubMed
Raffaella Rossetti
Raffaella Rossetti
Department of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy
Search for other papers by Raffaella Rossetti in
Google Scholar
PubMed
Search for other papers by Raffaella Rossetti in
Google Scholar
PubMed
the differences of sex development (DSD), that are generally associated with phenotypical manifestations incongruent with chromosomal sex (46,XY DSD and 46,XX DSD), and those associated with absent/delayed puberty due to congenital hypogonadotropic
Rebeca Esquivel-Zuniga
Rebeca Esquivel-Zuniga
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
Search for other papers by Rebeca Esquivel-Zuniga in
Google Scholar
PubMed
Search for other papers by Rebeca Esquivel-Zuniga in
Google Scholar
PubMed
Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
Search for other papers by Alan D Rogol in
Google Scholar
PubMed
Search for other papers by Alan D Rogol in
Google Scholar
PubMed
Male Klinefelter syndrome Congenital anorchia/testicular regression Kallmann syndrome Combined pituitary hormone deficiency CNS: Tumors/infiltrative diseases Chemotherapy/Radiation therapy Systemic illness e.g. (inflammatory bowel disease, celiac
Marie Lindhardt Ljubicic
Marie Lindhardt Ljubicic
Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Marie Lindhardt Ljubicic in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Marie Lindhardt Ljubicic in
Google Scholar
PubMed
Trine Holm Johannsen
Trine Holm Johannsen
Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Trine Holm Johannsen in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Trine Holm Johannsen in
Google Scholar
PubMed
Margit Bistrup Fischer
Margit Bistrup Fischer
Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Margit Bistrup Fischer in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Margit Bistrup Fischer in
Google Scholar
PubMed
Emmie N Upners
Emmie N Upners
Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Emmie N Upners in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Emmie N Upners in
Google Scholar
PubMed
Alexander S Busch
Alexander S Busch
Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Alexander S Busch in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Alexander S Busch in
Google Scholar
PubMed
Katharina M Main
Katharina M Main
Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Katharina M Main in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Katharina M Main in
Google Scholar
PubMed
Anna-Maria Andersson
Anna-Maria Andersson
Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Anna-Maria Andersson in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Anna-Maria Andersson in
Google Scholar
PubMed
Casper P Hagen
Casper P Hagen
Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Casper P Hagen in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Casper P Hagen in
Google Scholar
PubMed
Anders Juul
Anders Juul
Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Anders Juul in
Google Scholar
PubMed
International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark
Search for other papers by Anders Juul in
Google Scholar
PubMed
): Klinefelter syndrome including variants ( n = 29), congenital adrenal hyperplasia (CAH, classical n = 14; non-classical n = 2), 45,X/46,XY mosaicism ( n = 15), idiopathic 46,XY DSD ( n = 8), Turner syndrome including mosaic variants ( SRY negative) ( n
Mireille N M van Poppel
Mireille N M van Poppel
Institute of Human Movement Sciences, Sport and Health, University of Graz, Graz, Austria
Search for other papers by Mireille N M van Poppel in
Google Scholar
PubMed
Search for other papers by Mireille N M van Poppel in
Google Scholar
PubMed
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
Search for other papers by Christopher J Nolan in
Google Scholar
PubMed
Search for other papers by Christopher J Nolan in
Google Scholar
PubMed
Gernot Desoye
Gernot Desoye
Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria
Search for other papers by Gernot Desoye in
Google Scholar
PubMed
Search for other papers by Gernot Desoye in
Google Scholar
PubMed
Yes Congenital diaphragmatic hernia, absent gallbladder Zanfardino et al. ( 45 ) F 34 Yes 1180 (0.46) 40 (0.90) – C NA Yes No a Gestational age below 22 weeks and thus not included in Fig. 1. C, clinical
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
Search for other papers by Alexandra Kiess in
Google Scholar
PubMed
Department of Child and Adolescent Medicine, Section of Pediatric Cardiology, University Hospital Jena, Am Klinikum, Jena, Germany
Search for other papers by Alexandra Kiess in
Google Scholar
PubMed
Jessica Green
Jessica Green
Alder Hey Children's NHS Foundation Trust, Pediatric Intensive Care Unit, Eaton Road Liverpool, Great Britain
Search for other papers by Jessica Green in
Google Scholar
PubMed
Search for other papers by Jessica Green in
Google Scholar
PubMed
Anja Willenberg
Anja Willenberg
Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany
Search for other papers by Anja Willenberg in
Google Scholar
PubMed
Search for other papers by Anja Willenberg in
Google Scholar
PubMed
Uta Ceglarek
Uta Ceglarek
Institute of Laboratory Medicine, Clinical Chemistry, and Molecular Diagnostics (ILM), University of Leipzig, Liebigstrasse, Leipzig, Germany
Search for other papers by Uta Ceglarek in
Google Scholar
PubMed
Search for other papers by Uta Ceglarek in
Google Scholar
PubMed
Ingo Dähnert
Ingo Dähnert
Department of Pediatric Cardiology, Faculty of Medicine, Heart Center Leipzig, University of Leipzig, Strümpellstraße, Leipzig, Germany
Search for other papers by Ingo Dähnert in
Google Scholar
PubMed
Search for other papers by Ingo Dähnert in
Google Scholar
PubMed
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
Search for other papers by Wieland Kiess in
Google Scholar
PubMed
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
Search for other papers by Wieland Kiess in
Google Scholar
PubMed
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
Search for other papers by Mandy Vogel in
Google Scholar
PubMed
Department of Women and Child Health, Hospital for Children and Adolescents and Center for Pediatric Research (CPL), University of Leipzig, Liebigstrasse, Leipzig, Germany
Search for other papers by Mandy Vogel in
Google Scholar
PubMed
-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
Martijn J J Finken
Martijn J J Finken
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
Search for other papers by Martijn J J Finken in
Google Scholar
PubMed
Search for other papers by Martijn J J Finken in
Google Scholar
PubMed
Aleid J G Wirix
Aleid J G Wirix
Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
Search for other papers by Aleid J G Wirix in
Google Scholar
PubMed
Search for other papers by Aleid J G Wirix in
Google Scholar
PubMed
Ines A von Rosenstiel-Jadoul
Ines A von Rosenstiel-Jadoul
Department of Pediatrics, Rijnstate Hospital, Arnhem, The Netherlands
Search for other papers by Ines A von Rosenstiel-Jadoul in
Google Scholar
PubMed
Search for other papers by Ines A von Rosenstiel-Jadoul in
Google Scholar
PubMed
Bibian van der Voorn
Bibian van der Voorn
Department of Pediatric Endocrinology and Obesity Center CGG, Erasmus MC Sophia Children’s Hospital, Rotterdam, The Netherlands
Search for other papers by Bibian van der Voorn in
Google Scholar
PubMed
Search for other papers by Bibian van der Voorn in
Google Scholar
PubMed
Mai J M Chinapaw
Mai J M Chinapaw
Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
Search for other papers by Mai J M Chinapaw in
Google Scholar
PubMed
Search for other papers by Mai J M Chinapaw in
Google Scholar
PubMed
Michaela F Hartmann
Michaela F Hartmann
Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany
Search for other papers by Michaela F Hartmann in
Google Scholar
PubMed
Search for other papers by Michaela F Hartmann in
Google Scholar
PubMed
Joana E Kist-van Holthe
Joana E Kist-van Holthe
Department of Public and Occupational Health, EMGO Institute for Health and Care Research, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
Search for other papers by Joana E Kist-van Holthe in
Google Scholar
PubMed
Search for other papers by Joana E Kist-van Holthe in
Google Scholar
PubMed
Stefan A Wudy
Stefan A Wudy
Steroid Research and Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics, Department of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany
Search for other papers by Stefan A Wudy in
Google Scholar
PubMed
Search for other papers by Stefan A Wudy in
Google Scholar
PubMed
Joost Rotteveel
Joost Rotteveel
Department of Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands
Search for other papers by Joost Rotteveel in
Google Scholar
PubMed
Search for other papers by Joost Rotteveel in
Google Scholar
PubMed
addition to alterations in the metabolism of glucocorticoids, it could be possible that rate-limiting steps in their synthesis contribute to the development of hypertension in children with obesity. Patients with 11β-hydroxylase deficiency congenital
Lukas Plachy
Lukas Plachy
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Lukas Plachy in
Google Scholar
PubMed
Search for other papers by Lukas Plachy in
Google Scholar
PubMed
Lenka Petruzelkova
Lenka Petruzelkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Lenka Petruzelkova in
Google Scholar
PubMed
Search for other papers by Lenka Petruzelkova in
Google Scholar
PubMed
Petra Dusatkova
Petra Dusatkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Petra Dusatkova in
Google Scholar
PubMed
Search for other papers by Petra Dusatkova in
Google Scholar
PubMed
Klara Maratova
Klara Maratova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Klara Maratova in
Google Scholar
PubMed
Search for other papers by Klara Maratova in
Google Scholar
PubMed
Dana Zemkova
Dana Zemkova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Dana Zemkova in
Google Scholar
PubMed
Search for other papers by Dana Zemkova in
Google Scholar
PubMed
Lenka Elblova
Lenka Elblova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Lenka Elblova in
Google Scholar
PubMed
Search for other papers by Lenka Elblova in
Google Scholar
PubMed
Vit Neuman
Vit Neuman
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Vit Neuman in
Google Scholar
PubMed
Search for other papers by Vit Neuman in
Google Scholar
PubMed
Stanislava Kolouskova
Stanislava Kolouskova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Stanislava Kolouskova in
Google Scholar
PubMed
Search for other papers by Stanislava Kolouskova in
Google Scholar
PubMed
Barbora Obermannova
Barbora Obermannova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Barbora Obermannova in
Google Scholar
PubMed
Search for other papers by Barbora Obermannova in
Google Scholar
PubMed
Marta Snajderova
Marta Snajderova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Marta Snajderova in
Google Scholar
PubMed
Search for other papers by Marta Snajderova in
Google Scholar
PubMed
Zdenek Sumnik
Zdenek Sumnik
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Zdenek Sumnik in
Google Scholar
PubMed
Search for other papers by Zdenek Sumnik in
Google Scholar
PubMed
Jan Lebl
Jan Lebl
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Jan Lebl in
Google Scholar
PubMed
Search for other papers by Jan Lebl in
Google Scholar
PubMed
Stepanka Pruhova
Stepanka Pruhova
Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Search for other papers by Stepanka Pruhova in
Google Scholar
PubMed
Search for other papers by Stepanka Pruhova in
Google Scholar
PubMed
normally, and they may focus on possible hidden comorbidities associated with the genetic finding (e.g. congenital heart defect in Noonan syndrome or early osteoarthritis in ACAN gene mutations) ( 2 , 13 , 35 ). However, the treatment implications of
Page:12
