Detalhe da pesquisa
1.
Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.
JCI Insight
; 9(6)2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516887
2.
Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.
Front Endocrinol (Lausanne)
; 14: 1268345, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189052
3.
Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.
Eur J Endocrinol
; 188(4): 353-365, 2023 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943306
4.
Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma.
Eur J Endocrinol
; 188(1)2023 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651165
5.
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
Front Endocrinol (Lausanne)
; 13: 860055, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35418949
6.
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
J Endocr Soc
; 6(5): bvac020, 2022 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35308304
7.
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Endocr Connect
; 11(8)2022 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904228
8.
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
Endocrinol Diabetes Metab Case Rep
; 20212021 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34564059
9.
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
J Clin Endocrinol Metab
; 106(11): e4716-e4733, 2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34136918
10.
Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).
J Clin Endocrinol Metab
; 2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34318893
11.
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.
J Clin Endocrinol Metab
; 2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34453441
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258490
13.
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy.
Front Pediatr
; 8: 151, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32322566
14.
Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not.
Life Sci Alliance
; 3(4)2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32213617
15.
Isolated glucocorticoid deficiency: Genetic causes and animal models.
J Steroid Biochem Mol Biol
; 189: 73-80, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817990
16.
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
J Endocr Soc
; 3(1): 201-221, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620006
17.
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
J Clin Invest
; 127(3): 942-953, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28165343