Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Presentations


The Association Between Adipocytes and Growth is Mediated by Growth and Differentiation Factor 5
aFelsentein Medical Research Center, Petah Tikva, Israel; bSackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel; cSchneider Children’s Medical Center of Israel, Petah Tikva, Israel
A Homozygous Point Mutation in the GH1 Promoter ([mdash]161T[gt]C) Leads to Reduced GH Expression in Siblings with Isolated GH Deficiency
aDivision of Endocrinology, University of Sao Paulo Medical School, Sao Paulo, Sao Paulo, Brazil; bDepartment of Physiology and Biophysics, Institute of Biomedical Science, University of Sao Paulo, Sao Paulo, Sao Paulo, Brazil
A Novel Homozygous Mutation of the IGF1 Receptor Gene (igf1r) in Two Siblings with Severe Short Stature, Intellectual Disability, Congenital Malformations, and Deafness
aInstitut de Pathologie et de Génétique, Center for Human Genetics, Gosselies, Charleroi, Belgium; bFaculty of Medicine, Université Namur, Namur, Belgium; cDepartment of Pediatrics, Oregon Health and Science University, Portland, Oregon, USA; dDepartment of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium; eDepartment of Pediatrics, Hopital Civil de Charleroi, Charleroi, Belgium; fCenter for Medical Genetics, University of Antwerp, Antwerp, Belgium; gInstitute of Medical Genetics, University of Zurich, Zurich-Schwerzenbach, Switzerland
Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation
aHospital for Children and Adolescents, University of Leipzig, Leipzig, Germany; bDepartment of Pediatrics and Department of Clinical Immunology and Allergology, University Hospital Hradec Kralove, Hradec Kralove, Czech Republic; cDepartment of Pediatrics, CDRCP, Oregon Health and Science University, Portland, Oregon, USA
Whole Exome Sequencing is an Efficient Approach to Screen for Changes in Growth-Relevant Genes in Primary IGF1 Deficiency
aInstitute of Human Genetics, University of Bonn, Bonn, Germany; bPediatric Endocrinology Division, Children’s Hospital, University of Bonn, Bonn, Germany; cDepartment of Genomics Life and Brain Center, Bonn, Germany; dDepartment of Clinical Chemistry and Pharmacology, University of Bonn, Bonn, Germany; eDepartment of Neonatology, Children’s Hospital, University of Bonn, Bonn, Germany
Parental Gonadal Mosaicism for a BRAF Mutation in Cardiofaciocutaneous Syndrome
aDepartment of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland; bGenetic Medicine, St Mary’s Hospital, Manchester, UK; cNational Centre for Medical Genetics, Our Lady’s Hospital Crumlin, Dublin, Ireland
Mitochondrial DNA in Placenta: Associations with Fetal Growth and Superoxide Dismutase Activity
aPediatric Endocrinology, Hospital Sant Joan de Deu, University of Barcelona, Esplugues de Llobregat, Barcelona, Spain; bCIBERDEM, Instituto de Salud Carlos III, Barcelona, Spain; cPediatrics, Hospital Dr. Josep Trueta and Institute for Biomedical Research, Girona, Spain; dPediatric Endocrinology, University Hospital, Leuven, Belgium
Genetics of Growth Failure in Small for Gestational Age Children
Department of Pediatrics, Freiburg University Hospital, Freiburg, Germany
Genotype-Phenotype Relationship in Patients with SHOX Region Rearrangements Detected by MLPA in the French Population
aService de Médecine Infantile et Génétique Clinique, Centre Hospitalier Universitaire de Nancy, et U954, Université de Lorraine, Vandoeuvre les Nancy, France; bUnité de Recherche clinique/Centre d’Investigation Clinique Paris Centre, Groupe Hospitalier Universitaire Necker-Enfants Malades, Paris, France; cCHU Nantes, Service de Génétique Médicale, Nantes, France; dUnité de Génétique Moléculaire, Laboratoire Cerba, Saint-Ouen l’Aumône, France; eLaboratoire de Biochimie–Hormonologie, Hopital Robert Debré, Université Paris Diderot, Paris, France; fService de Génétique, CHU de Caen, INSERM U1075, Caen, France; gService de Génétique, CHU de Saint-Etienne, Saint-Etienne, France; hUniversité Paris Descartes, IHU IMAGINE et Sce de Génétique Médicale, GH Necker Enfants Malades, Paris, France
Analysis of GH Receptor Gene Expression in Idiopathic Tall Stature Children
aIRCCS Fondazione San Matteo, University of Pavia, Pavia, Italy; bRegional Hospital of Bolzano, Bolzano, Italy
The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study
aDepartment of Clinical and Experimental Medicine, University of Parma, Parma, Italy; bPediatric Endocrinology and Adolescence Unit, Pediatric Department, University Hospital of Padua, Padua, Italy; cASL 6, Section of Endocrinology, Livorno, Italy; dUnit of Pediatrics, Pistoia Hospital, Pistoia, Italy; eUnit of Auxology, San Matteo Hospital, Pavia, Italy; fEndocrinology Unit, University Hospital of Sassari, Sassari, Italy; gUnit of Pediatrics, Ferrari Hospital, Casarano (LE), Italy; hAuxology and Endocrinology Units, Santobono Pausilipon Hospital, Naples, Italy; iUnit of Pediatrics, San Matteo Hospital, Pavia, Italy; jUnit of Pediatrics, Camberlingo Hospital, Francavilla Fontana (BR), Italy; kPediatrics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy; lUnit of Pediatrics, Civili Hospital, Fermo, Italy; mAUSL 1, Department of Pediatrics, Massa Carrara, Italy; nDepartment of Pediatrics, S. Croce e Carle Hospital, Cuneo, Italy; oUnit of Pediatrics, Perrino Hospital, Brindisi, Italy; pDivision of Endocrinology and Metabolism, Department of Internal Medicine, University of Turin, Turin, Italy; qUnit of Pediatrics, G.Di Cristina Hospital, Palermo, Italy; rUnit of Pediatrics, AUSL, Forlì, Italy; sUnit of Pediatrics, S. Caterina Novella Hospital, Galatina (LE), Italy; tPediatric Department, University of Siena, Siena, Italy; uDepartment of Pediatrics, San Salvatore Hospital, Pesaro, Italy; vDepartment of Pediatrics, Meyer Children Hospital, Florence, Italy; wPediatric 2 Unit Department Donna, Bambino e Chirurgia Generale e Specialistica, Second University of Naples, Naples, Italy; xUnit of Pediatrics, Santa Maria Nuova Hospital, Reggio Emilia, Italy; yDepartment of Pediatrics, Regional Hospital, Bolzano, Italy; zDepartment of Experimental Medicine, Sapienza University, Rome, Italy; ADepartment of Pediatrics, UCSC, Rome, Italy; BDepartment of Pediatrics, Federico II University, Naples, Italy; CAUSL 8, Department of Pediatrics, Arezzo, Italy; DUnit of Pediatrics, University Hospital of Udine, Udine, Italy; EClinical Genetics and Metabolic Diseases Unit, Children Hospital Giovanni XXIII, Bari, Italy; FDepartment of Pediatrics, University of Messina, Messina, Italy; GDepartment of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy