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.
The utility of IGF1 in the evaluation of pediatric patients with endogenous hypercortisolemia.
Pediatr Res
; 95(3): 758-761, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993643
3.
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.
Brain
; 146(3): 968-976, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36181424
4.
FAF1 Gene Involvement in Pituitary Corticotroph Tumors.
Horm Metab Res
; 2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38065537
5.
An update on, and genetics of refractory adenomas of childhood.
Pituitary
; 26(3): 281-287, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37318708
6.
Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21.
J Allergy Clin Immunol
; 149(1): 302-314, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34089750
7.
Loss of PKA regulatory subunit 1α aggravates cardiomyocyte necrosis and myocardial ischemia/reperfusion injury.
J Biol Chem
; 297(1): 100850, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087234
8.
Prkar1a haploinsufficiency ameliorates the growth hormone excess phenotype in Aip-deficient mice.
Hum Mol Genet
; 29(17): 2951-2961, 2020 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32821937
9.
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
10.
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
11.
KDM1A inactivation causes hereditary food-dependent Cushing syndrome.
Genet Med
; 24(2): 374-383, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906447
12.
Younger age and early puberty are associated with cognitive function decline in children with Cushing disease.
Clin Endocrinol (Oxf)
; 96(4): 569-577, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668209
13.
Family environment and development in children adopted from institutionalized care.
Pediatr Res
; 91(6): 1562-1570, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040161
14.
Cushing's disease in children: unique features and update on genetics.
Pituitary
; 25(5): 764-767, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35750967
15.
Scoping review of COVID-19-related systematic reviews and meta-analyses: can we really have confidence in their results?
Postgrad Med J
; 98(1159): 372-379, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33637639
16.
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
17.
Predicting the risk of cardiac myxoma in Carney complex.
Genet Med
; 23(1): 80-85, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893266
18.
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
19.
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Genet Med
; 23(8): 1465-1473, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833410
20.
Contralateral Suppression Index Does Not Predict Clinical Cure in Patients Undergoing Surgery for Primary Aldosteronism.
Ann Surg Oncol
; 28(12): 7487-7495, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33939050