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Showing page 1 of results 1 - 5 of about 5 pages

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Enrichment of Inherited Rare Variants in Non-Syndromic Congenital Hypothyroidism from Thyroid Dysgenesis Identified By Exome Sequencing: the Contribution of IKBKE to Vasculogenesis and Thyroid Development | ESPE2018
Stephanie Larrivee-Vanier; Fabien Magne; Martineau Jean-Louis; Aurore Carre; Helen Bui; Mark E. Samuels; Michel Polak; Vliet Guy
http://abstracts.eurospe.org/hrp/0089/hrp0089fc5.2.htm
Published: 2018-08-28

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Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-Aggregation | ESPE2018
Aurore Carre; Athanasia Stoupa; Frederic Adam; Dulanjalee Kariyawasam; Catherine Strassel; Sanjay Gawade; Gabor Szinnai; Alexand
http://abstracts.eurospe.org/hrp/0089/hrp0089fc5.1.htm
Published: 2018-08-28

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Genetic Heterogeneity Revealed by WES in a Cohort of Patients with Brain-Lung-Thyroid Syndrome | ESPE2016
Athanasia Stoupa; Dulanjalee Kariyawasam; Manelle Gueriouz; Valerie Malan; Pascale Fanen; Patrick Nitschke; Mohammed Zarhrate; C
http://abstracts.eurospe.org/hrp/0086/hrp0086fc11.3.htm
Published: 2016-08-19

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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 | ESPE2016
Dulanjalee Kariyawasam; Aurore Carre; Latif Rachdi; Michel Polak
http://abstracts.eurospe.org/hrp/0086/hrp0086fc11.2.htm
Published: 2016-08-19

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BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration | ESPE2016
Aurore Carre; Athanasia Stoupa; Dulanjalee Karyiawasam; Manelle Gueriouz; Cyrille Ramond; Sebastien Gaujoux; Nicolas Glaser; Jul
http://abstracts.eurospe.org/hrp/0086/hrp0086ha2.htm
Published: 2016-08-19

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