Detalhe da pesquisa
1.
Association of prolactin receptor (PRLR) variants with prolactinomas.
Hum Mol Genet
; 28(6): 1023-1037, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445560
2.
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
Am J Med Genet A
; 182(11): 2521-2528, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776440
3.
PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.
N Engl J Med
; 385(2): 189-191, 2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34233101
4.
miR-135b- and miR-146b-dependent silencing of calcium-sensing receptor expression in colorectal tumors.
Int J Cancer
; 138(1): 137-45, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178670
5.
Genetics of hereditary forms of primary hyperparathyroidism.
Hormones (Athens)
; 23(1): 3-14, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38038882
6.
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
J Invest Dermatol
; 144(4): 811-819.e4, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802293
7.
S100P-binding protein, S100PBP, mediates adhesion through regulation of cathepsin Z in pancreatic cancer cells.
Am J Pathol
; 180(4): 1485-94, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22330678
8.
The role of DNA methylation in human pancreatic neuroendocrine tumours.
Endocr Oncol
; 3(1): e230003, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37434653
9.
A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome.
JBMR Plus
; 7(6): e10739, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37283649
10.
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
J Endocr Soc
; 6(7): bvac079, 2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35668994
11.
miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2.
Endocr Relat Cancer
; 29(10): 557-568, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35900839
12.
Preclinical Models of Neuroendocrine Neoplasia.
Cancers (Basel)
; 14(22)2022 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36428741
13.
Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes.
Surgery
; 171(1): 77-87, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183184
14.
The bromodomain inhibitor JQ1+ reduces calcium-sensing receptor activity in pituitary cell lines.
J Mol Endocrinol
; 67(3): 83-94, 2021 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34223822
15.
Multiple Endocrine Neoplasia Type 1: Latest Insights.
Endocr Rev
; 42(2): 133-170, 2021 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249439
16.
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin Expression.
J Bone Miner Res
; 36(1): 100-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32780883
17.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Nat Genet
; 53(9): 1360-1372, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34385710
18.
Preclinical drug studies in MEN1-related neuroendocrine neoplasms (MEN1-NENs).
Endocr Relat Cancer
; 27(9): R345-R355, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32590358
19.
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.
J Endocr Soc
; 4(11): bvaa142, 2020 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33150274
20.
Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32311048