Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Association of a PARK2 Germline Variant and Epithelial Ovarian Cancer in a Southern Brazilian Population.
Oncology
; 91(2): 101-5, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27286703
6.
USP13 genetics and expression in a family with thyroid cancer.
Endocrine
; 77(2): 281-290, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35583846
7.
Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency.
Front Endocrinol (Lausanne)
; 12: 680609, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012423
8.
The PRKAR1B p.R115K Variant is Associated with Lipoprotein Profile in African American Youth with Metabolic Challenges.
J Endocr Soc
; 5(8): bvab071, 2021 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34195525
9.
ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome.
Endocr Relat Cancer
; 27(9): 509-517, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32638579
10.
PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.
Endocr Relat Cancer
; 27(11): 647-656, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33055300
11.
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
J Clin Endocrinol Metab
; 104(5): 1484-1490, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30517686
12.
Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome.
Mol Cell Endocrinol
; 469: 107-111, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28739378
13.
Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?
Hormones (Athens)
; 16(4): 423-428, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518763
14.
The E3 ubiquitin ligase Siah1 regulates adrenal gland organization and aldosterone secretion.
JCI Insight
; 2(23)2017 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29212953
15.
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
J Clin Endocrinol Metab
; 102(8): 2836-2843, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28505279
16.
A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.
Menopause
; 22(11): 1264-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25988799
17.
Central precocious puberty in a girl and early puberty in her brother caused by a novel mutation in the MKRN3 gene.
J Clin Endocrinol Metab
; 99(4): E647-51, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24438377