ESPE Abstracts

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

Genetics of Familial Glucocorticoid Deficiency Over the Decades: Phenotypic Variability and Associated Features | ESPE2019
CJ Smith; AV Maharaj; R Prasad; CR Hughes; AJL Clark; LF Chan; LA Metherell
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC13.5
Published: 2019-08-22

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.html
Published: 2019-08-22

Genetics of Familial Glucocorticoid Deficiency Over the Decades: Phenotypic Variability and Associated Features | ESPE2019
CJ Smith; AV Maharaj; R Prasad; CR Hughes; AJL Clark; LF Chan; LA Metherell
http://abstracts.eurospe.org/hrp/0092/hrp0092rfc13.5.html
Published: 2019-08-22

SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure | ESPE2018
Avinaash Maharaj; Dean Wallace; Indi Banerjee; Rathi Prasad; Lou Metherell
http://abstracts.eurospe.org/hrp/0089/hrp0089p1-p191.htm
Published: 2018-08-28

Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency is Associated with Mitochondrial Dysfunction | ESPE2018
Avinaash Maharaj; Teisha Bradshaw; Jack Williams; Tulay Guran; Debora Braslavsky; Britta Brugger; Lou Metherell; Rathi Prasad
http://abstracts.eurospe.org/hrp/0089/hrp0089rfc1.3.htm
Published: 2018-08-28

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

Whole Exome Sequencing can Identify Defects not Detected by Candidate Gene Sequencing in Patients with Short Stature and Features of Growth Hormone Insensitivity (GHI) | ESPE2016
Lucy Shapiro; Martin Savage; Kate Davies; Lou Metherell; Helen Storr
http://abstracts.eurospe.org/hrp/0086/hrp0086fc8.2.htm
Published: 2016-08-19

Heterozygous Dominant Negative STAT5B Variants associated with Short Stature and GH Insensitivity | ESPE2015
Evelien Pease-Gevers; David Neumann; Jurgen Klammt; Shayne Andrew; Julia Kowalczyk; Lou Metherell; Mehul Dattani; Vivian Hwa
http://abstracts.eurospe.org/hrp/0084/hrp0084fc4.1.htm
Published: 2015-08-26

Pseudoexon Activation in Nicotinamide Nucleotide Transhydrogenase in Two Siblings with Familial Glucocorticoid Deficiency | ESPE2014
Li Chan; Tatiana Novoselova; Shoshana Rath; Karen Carpenter; H Atkinson; Jan Dickinson; Nick Pachter; G Price; Cathy Choong; Lou
http://abstracts.eurospe.org/hrp/0082/hrp0082lbp-d3-1002.htm
Published: 2014-08-28