Detalhe da pesquisa
1.
Genetic drivers of Cushing's disease: Frequency and associated phenotypes.
Genet Med
; 24(12): 2516-2525, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36149413
2.
Determinants of Clinical Behavior and Prognosis in Cushing's Disease: A Quest for Useful Biomarkers.
Rev Invest Clin
; 74(5): 244-257, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36328029
3.
Risk category system to identify pituitary adenoma patients with AIP mutations.
J Med Genet
; 55(4): 254-260, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29440248
4.
Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.
Clin Endocrinol (Oxf)
; 89(4): 437-443, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29927501
5.
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Hum Mutat
; 38(1): 78-85, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27650164
6.
Role of Phosphodiesterases on the Function of Aryl Hydrocarbon Receptor-Interacting Protein (AIP) in the Pituitary Gland and on the Evaluation of AIP Gene Variants.
Horm Metab Res
; 49(4): 286-295, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-28427099
7.
Genetic diagnosis in acromegaly and gigantism: From research to clinical practice.
Best Pract Res Clin Endocrinol Metab
; 38(3): 101892, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38521632
8.
An update on the genetic drivers of corticotroph tumorigenesis.
Exp Clin Endocrinol Diabetes
; 2024 Jun 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38830604
9.
Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease.
Arch Med Res
; 54(8): 102899, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37925320
10.
Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors.
Cancers (Basel)
; 15(23)2023 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38067388
11.
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
medRxiv
; 2023 Jan 20.
Artigo
Inglês
| MEDLINE | ID: mdl-36711613
12.
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Front Endocrinol (Lausanne)
; 14: 1166076, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37388215
13.
Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.
J Endocr Soc
; 6(10): bvac116, 2022 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36042976
14.
The X-linked acrogigantism-associated gene gpr101 is a regulator of early embryonic development and growth in zebrafish.
Mol Cell Endocrinol
; 520: 111091, 2021 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33248229
15.
Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.
Eur J Endocrinol
; 185(4): 485-496, 2021 Aug 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34313605
16.
Potential markers of disease behavior in acromegaly and gigantism.
Expert Rev Endocrinol Metab
; 15(3): 171-183, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32372673
17.
Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32232325
18.
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31996917
19.
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Front Endocrinol (Lausanne)
; 11: 433, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32714280
20.
Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.
J Clin Endocrinol Metab
; 104(5): 1792-1801, 2019 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30597087