ESPE Abstracts Search

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Showing page 1 of results 1 - 10 of about 16 pages

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CYP11A1 (Side-chain Cleavage Enzyme) Defect in Three Brothers Causing Glucocorticoid and Mineralocorticoid Deficiency and Development of Testicular Adrenal Rest Testicular Tumour | ESPE2019
Wafa Kallali; Ewan Gray; Muhammad Zain Mehdi; Robert Lindsay; Lou Metherell; Federica Buonocore; John Achermann; Malcolm Donalds
http://abstracts.eurospe.org/hrp/0092/hrp0092P2-2
Published: 2019-08-22

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Mutations in the DEAH-box RNA Helicase DHX37 are a Frequent Cause of 46,XY Gonadal Dysgenesis and 46,XY Testicular Regression Syndrome | ESPE2019
Ken McElreavey; Anne Jorgensen; Caroline Eozenou; Tiphanie Merel; Joelle Bignon-Topalovic; Daisy Tan; Denis Houzelstein; Federic
http://abstracts.eurospe.org/hrp/0092/hrp0092FC10.3
Published: 2019-08-22

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Novel Insights into the Pathophysiology of Adrenal Insufficiency Syndromes | ESPE2019
John Achermann
http://abstracts.eurospe.org/hrp/0092/hrp0092S7.2
Published: 2019-08-22

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Novel Insights into the Pathophysiology of Adrenal Insufficiency Syndromes | ESPE2019
John Achermann
http://abstracts.eurospe.org/hrp/0092/hrp0092s7.2.html
Published: 2019-08-22

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SDgeneMatch, A New Tool to Aid the Identification of the Genetic Causes of DSD | ESPE2018
Ridder Jeroen De; Anu Bashamboo; Elfride De Baere; Nils Krone; Rod Mitchell; Ewa Rajpert-De Meyts; Ed Tobias; Leendert Looijenga
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p216.htm
Published: 2018-08-28

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Mutations Involving Nuclear Receptors and Their Cofactors as a Major Cause of 46,XX DSD | ESPE2018
Anu Bashamboo; Caroline Eozenou; Denis Houzelstein; Joelle Bignon-Topalovic; John Achermann; Ken McElreavey
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p215.htm
Published: 2018-08-28

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A Unique Case of Dual Opposing Pathologies | ESPE2016
Irene Fernandez Viseras; Dinesh Giri; Detlef Bockenhauer; Charu Deshpande; John Achermann; Norman Taylor; Gill Rumsby; Senthil S
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p14.htm
Published: 2016-08-19

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Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome | ESPE2016
Rathi Prasad; Avinaash Maharaj; Eirini Meimaridou; Paul VanVeldhoven; Federica Buonocore; Eliana Barbagaleta; Ignacio Bergada; H
http://abstracts.eurospe.org/hrp/0086/hrp0086fc15.2.htm
Published: 2016-08-19