Detalhe da pesquisa
1.
Aberrant Splicing of INS Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes.
Int J Mol Sci
; 23(15)2022 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955956
2.
Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity-onset diabetes of the young.
Hum Mutat
; 41(1): 129-132, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31529753
3.
Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation.
Calcif Tissue Int
; 105(5): 567-572, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471673
4.
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Front Endocrinol (Lausanne)
; 14: 1146768, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37274334
5.
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.
Endocr Connect
; 12(4)2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35951311
6.
Insulinoma in childhood: a retrospective review of 22 patients from one referral centre.
Front Endocrinol (Lausanne)
; 14: 1127173, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37152923
7.
A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA.
J Clin Endocrinol Metab
; 107(9): e3654-e3660, 2022 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35775692
8.
Assessment of efficacy and safety of volanesorsen for treatment of metabolic complications in patients with familial partial lipodystrophy: Results of the BROADEN study: Volanesorsen in FPLD; The BROADEN Study.
J Clin Lipidol
; 16(6): 833-849, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36402670
9.
The coincidence of two rare diseases with opposite metabolic phenotype: a child with congenital hyperinsulinism and Bloom syndrome.
J Pediatr Endocrinol Metab
; 35(3): 405-409, 2022 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34700371
10.
Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis.
Endocrinol Diabetes Metab Case Rep
; 20212021 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33859056
11.
Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report.
Front Endocrinol (Lausanne)
; 12: 683492, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135865
12.
Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene.
Stem Cell Res
; 54: 102414, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111698
13.
Serum circulating miRNA-342-3p as a potential diagnostic biomarker in parathyroid carcinomas: A pilot study.
Endocrinol Diabetes Metab
; 4(4): e00284, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505413
14.
Clinical Outcomes and Complications of Pituitary Blastoma.
J Clin Endocrinol Metab
; 106(2): 351-363, 2021 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236116
15.
G protein beta interacts with the glucocorticoid receptor and suppresses its transcriptional activity in the nucleus.
J Cell Biol
; 169(6): 885-96, 2005 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-15955845
16.
[Dizygotic pregnancy as a possible mechanism of fetal gestation with a biallel mutation in the CYP11A1 gene: clinical case description].
Probl Endokrinol (Mosk)
; 66(4): 45-49, 2020 09 28.
Artigo
em Russo
| MEDLINE | ID: mdl-33351358
17.
Successful Use of Denosumab for Life-Threatening Hypercalcemia in a Pediatric Patient with Primary Hyperparathyroidism.
Horm Res Paediatr
; 93(4): 272-278, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32998142
18.
[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].
Probl Endokrinol (Mosk)
; 66(3): 62-69, 2020 09 16.
Artigo
em Russo
| MEDLINE | ID: mdl-33351340
19.
Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant.
Clin Diabetes Endocrinol
; 6: 7, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467771
20.
Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation.
Stem Cell Res
; 47: 101929, 2020 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32739878