ESPE Abstracts Search

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Whole Exome Sequencing (WES) Reveals Oligogenic Gene Mutations in a Case of Combined Pituitary Hormone Deficiency (CPHD) | ESPE2019
Amalia Sertedaki; Elizabeth-Barbara Tatsi; Eirini Nikaina; Ioannis Anargyros Vasilakis; Irene Fylaktou; Nicoletta Iacovidou; Sou
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-118
Published: 2019-08-22

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Next Generation Sequencing in Greek MODY Patients Increases Diagnostic Accuracy and Reveals a High Percentage of MODY12 Cases | ESPE2019
Elizabeth-Barbara Tatsi; Amalia Sertedaki; Andreas Skorilas; George Chrousos; Christina Kanaka-Gantenbein
http://abstracts.eurospe.org/hrp/0092/hrp0092FC1.3
Published: 2019-08-22

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The Application of Next Generation Sequencing Mody Gene Panel in Greek Patients | ESPE2018
Elizabeth Tatsi; Penelopi Smirnaki; Panagiota Triantafilou; Kyriaki Tsiroukidou; Kalliopi Kotsa; Vaia Lambadiari; George Chrouso
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p074.htm
Published: 2018-08-28

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A Large Consanguineous Family with a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism type 1 (PHA1) Caused by a Novel Mutation in the SCNN1A Gene: Functional Studies | ESPE2018
Alexandra Efthymiadou; I Gautschi; MX vanBemmelen; Amalia Sertedaki; George Chrousos; Laurent Schild; Dionisios Chrysis
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p022.htm
Published: 2018-08-28

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Untargeted Plasma Metabolomics in Subjects with Differences in Tissue Glucocorticoid Sensitivity Identifies a Novel metabolic Signature | ESPE2018
Nicolas C. Nicolaides; Maria-Konstantina Ioannidi; Eleni Koniari; Amalia Sertedaki; Maria I. Klapa; George P. Chrousos; Evangeli
http://abstracts.eurospe.org/hrp/0089/hrp0089fc1.5.htm
Published: 2018-08-28

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Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance Identifies a Novel TRIM28 Gene Mutation (p.R230X) | ESPE2018
Amalia Sertedaki; Nikos Marinakis; Nicolas C. Nicolaides; George Crousos; Evangelia Charmandari
http://abstracts.eurospe.org/hrp/0089/hrp0089fc1.4.htm
Published: 2018-08-28

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Hyperglycaemia in a Boy of 13 years old: Not always Type 1 Diabetes Mellitus. A Case Report | ESPE2016
Zacharoula Karabouta; Amalia Sertedaki
http://abstracts.eurospe.org/hrp/0086/hrp0086p2-p320.htm
Published: 2016-08-19

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Transient Generalized Glucocorticoid Hypersensitivity Syndrome | ESPE2016
Eleni Magdalini Kyritsi; Nicolas C Nicolaides; Agaristi Lamprokostopoulou; Athina Xaidara; Elizabeth Georgiadou; Vassiliki Dimit
http://abstracts.eurospe.org/hrp/0086/hrp0086p1-p7.htm
Published: 2016-08-19