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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

Free Communications

Thyroid

Mutations in TBL1X as a Novel Cause of Familial Central Hypothyroidism
aAcademic Medical Centre, Amsterdam, The Netherlands; bLeiden University Medical Centre, Leiden, The Netherlands; cHenry Wellcome Laboratories of Structural Biology, Leicester, UK; dErasmus MC, Rotterdam, The Netherlands
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Overexpression of DYRK1A Located in the Down Syndrome Critical Region, Leads to Primary Hypothyroidism in Down Syndrome through Interaction with FOXE1
aINSERM U1016, Cochin Institute, Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; bIMAGINE Institute affiliate, Paris, France; cPediatric Endocrinology, Gynaecology and Diabetology, Hôpital Universitaire Necker-Enfants Malades, AP-HP, Paris, France
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Genetic Heterogeneity Revealed by WES in a Cohort of Patients with Brain-Lung-Thyroid Syndrome
aPediatric Endocrinology, Diabetology and Gynecology Department, Necker Enfants-Malades University Hospital, AP-HP, Paris, France; bIMAGINE Institute, Paris, France; cCochin Institute, INSERM U1016, Faculty of Medicine, Paris Descartes University, Sorbonne Paris Cité, Paris, France; dHistology, Embryology and Cytogenetics Department, Necker Enfants-Malades University Hospital, AP-HP, Paris Descartes University, Paris, France; eGenetics Department, INSERM U955, Henri Mondor Hospital, AP-HP, Paris-Est University, Paris, France; fBioinformatics Platform, Paris Descartes University, IMAGINE Institute, Paris, France; gGenomics Platform, INSERM U1163, Paris Descartes University, IMAGINE Institute, Paris, France; hTranslational Genetics Unit, INSERM U1163, IMAGINE Institute, Paris Descartes University, Paris, France
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Decreased Proportions of CD4+IL17+/CD4+CD25+CD127− and CD4+IL17+/CD4+CD25+CD127-FoxP3+T Cells in Children with Autoimmune Thyroid Diseases
aDep. of Pediatrics, Endocrinology, Diabetology with a Cardiology Unit, Medical University in Bialystok, Bialystok, Poland; bDepartment of Regenerative Medicine and Immune Regulation, Medical University in Bialystok, Bialystok, Poland; cDivision of Cardiology, Internal Affairs Ministry Hospital in Białystok, Bialystok, Poland; dMolecular Thyroid Research Laboratory, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany
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Pediatric Reference Values of Thyrotropin (TSH) should be Personalized According to Child Characteristics
aInstitute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petah Tikva 49209, Israel; bTel-Aviv University Sackler School of Medicine, Tel Aviv Ramat Aviv 69978, Israel; cChief Pediatrician, Community Division, Clalit Health Services, Tel Aviv, Israel; dDepartment of Research and Information Chief Physician Office Clalit Health Services, Tel Aviv, Israel; eClalit Health Care, Central Laboratory, Kiriat Atidim, Tel Aviv, Israel
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