ESPE Abstracts Search

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Showing page 1 of results 1 - 8 of about 8 pages

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Clinical and Genetic Characterization of Tunisian Children with Hereditary Hypophosphatemic rickets (HHR). | ESPE2019
Selmen Wannes; Caroline Silve; Ahmed Rassas; Amina Werdani; Raoudha BOUSOFFARA; Bahri Mahjoub
http://abstracts.eurospe.org/hrp/0092/hrp0092P2-60
Published: 2019-08-22

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Thyrotoxicosis, Nephrogenic Syndrome of Inappropriate Antidiuresis, Tall Stature and Mental Retardation Caused by a Novel GNAS Gain of Function Mutation | ESPE2016
Muriel Houang; Marie-Laure Kottler; Albert Bensman; Jean-Philippe Haymann; Nicolas Richard; Olivier Dunand; Murate Bastepe; Caro
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p688.htm
Published: 2016-08-19

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Knock in of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-dependent Protein Kinase A Activation: A Model of Acrodysostosis Type 1? | ESPE2016
Stunff Catherine Le; Francoise Tilotta; Jeremy Sadoine; Denmat Dominique Le; Eric Clauser; Pierre Bougneres; Catherine Chaussain
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p98.htm
Published: 2016-08-19

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From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network | ESPE2016
Susanne Thiele; Giovanna Mantovani; Anne Barlier; Paola Bordogna; Francesca M Elli; Kathleen Freson; Intza Garin; Virginie Grybe
http://abstracts.eurospe.org/hrp/0086/hrp0086fc2.2.htm
Published: 2016-08-19

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Outcomes of Vitamin D Analogues and Phosphate Supplements in Patients With Hereditary Hypophosphatemic Rickets , Comparison With Non-Treated Patients | ESPE2014
Emese Boros; Anya Rothenbuhler; Claudine Heinrichs; Cecile Brachet; Laure Esterle; Peter Kamenicky; Pol Harvengt; Sylvie Brailly
http://abstracts.eurospe.org/hrp/0082/hrp0082p2-d3-310.htm
Published: 2014-08-28

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Genetic and Epigenetic Defects at the GNAS Locus Lead to Opposite Patterns of Fetal and Postnatal Growth | ESPE2014
Virginie Grybek; Stephanie Maupetit-Mehouas; Wolfgang Hogler; Harald Juppner; Caroline Silve; Agnes Linglart
http://abstracts.eurospe.org/hrp/0082/hrp0082fc10.3.htm
Published: 2014-08-28

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Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement | ESPE2018
Giovanna Mantovani; Murat Bastepe; David Monk; Sanctis Luisa de; Susanne Thiele; Alessia Usardi; Faisal Ahmed; Roberto Bufo; Tim
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc11.1.htm
Published: 2018-08-28