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1.
Familial glucocorticoid deficiency: a diagnostic challenge during acute illness.
Eur J Pediatr
; 172(10): 1407-10, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23708259
2.
A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).
J Endocr Soc
; 7(1): bvac165, 2022 Nov 17.
Article
in English
| MEDLINE | ID: mdl-36419940
3.
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
J Endocr Soc
; 5(8): bvab086, 2021 Aug 01.
Article
in English
| MEDLINE | ID: mdl-34258490
4.
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
J Endocr Soc
; 3(1): 201-221, 2019 Jan 01.
Article
in English
| MEDLINE | ID: mdl-30620006
5.
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
J Clin Endocrinol Metab
; 99(8): E1556-63, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24601690
6.
Familial glucocorticoid deficiency: New genes and mechanisms.
Mol Cell Endocrinol
; 371(1-2): 195-200, 2013 May 22.
Article
in English
| MEDLINE | ID: mdl-23279877
7.
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.
J Clin Invest
; 122(3): 814-20, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22354170
8.
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
Nat Genet
; 44(7): 740-2, 2012 May 27.
Article
in English
| MEDLINE | ID: mdl-22634753
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