Detalhe da pesquisa
1.
Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.
Am J Hum Genet
; 109(4): 553-570, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202564
2.
FAF1 Gene Involvement in Pituitary Corticotroph Tumors.
Horm Metab Res
; 2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38065537
3.
Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion.
Hum Mol Genet
; 29(20): 3443-3450, 2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33089319
4.
Genetic drivers of Cushing's disease: Frequency and associated phenotypes.
Genet Med
; 24(12): 2516-2525, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36149413
5.
Update on the Genetics of Primary Aldosteronism and Aldosterone-Producing Adenomas.
Curr Cardiol Rep
; 24(9): 1189-1195, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35841527
6.
Genomic and sequence variants of protein kinase A regulatory subunit type 1ß (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.
Genet Med
; 23(1): 174-182, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895490
7.
Steroid hormone analysis of adolescents and young women with polycystic ovarian syndrome and adrenocortical dysfunction using UPC2-MS/MS.
Pediatr Res
; 89(1): 118-126, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32247282
8.
Correction: FAF1 Gene Involvement in Pituitary Corticotroph Tumors.
Horm Metab Res
; 2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38190978
9.
Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate.
Horm Metab Res
; 50(2): 124-132, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29183089
10.
Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a+/- mice.
Hum Mol Genet
; 24(21): 6080-92, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246497
11.
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
N Engl J Med
; 370(11): 1019-28, 2014 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24571724
12.
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
N Engl J Med
; 371(25): 2363-74, 2014 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25470569
13.
Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl.
Pediatr Blood Cancer
; 64(6)2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28012237
14.
Correction: Genomic and sequence variants of protein kinase A regulatory subunit type 1ß (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.
Genet Med
; 23(1): 239, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082560
15.
Kidney Stones as an Underrecognized Clinical Sign in Pediatric Cushing Disease.
J Pediatr
; 170: 273-7.e1, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26703870
16.
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Eur J Pediatr
; 175(5): 727-33, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26795631
17.
The spectrum of growth hormone excess in Carney complex and genotype-phenotype correlations.
J Clin Endocrinol Metab
; 2024 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38626285
18.
Spatial Transcriptomic Analysis of Pituitary Corticotroph Tumors.
J Endocr Soc
; 8(6): bvae064, 2024 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38633897
19.
Paediatric Cushing syndrome: a prospective, multisite, observational cohort study.
Lancet Child Adolesc Health
; 8(1): 51-62, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097317
20.
Spatial Multiomics Reveal the Role of Wnt Modulator, Dkk2, in Palatogenesis.
bioRxiv
; 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292772