Detalhe da pesquisa
1.
Congenital mirror movements are associated with defective polymerisation of RAD51.
J Med Genet
; 60(11): 1116-1126, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308287
2.
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
Hum Mutat
; 42(4): 408-420, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410562
3.
Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Hum Mutat
; 41(5): 884-905, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027066
4.
Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis.
BMC Med
; 17(1): 132, 2019 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31291970
5.
Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.
Blood
; 123(9): 1372-83, 2014 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24398328
6.
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.
JCI Insight
; 9(11)2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38855865
7.
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
Hum Mutat
; 34(5): 669-85, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23348805
8.
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.
Commun Med (Lond)
; 3(1): 136, 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794142
9.
A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.
medRxiv
; 2023 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37131594
10.
Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications.
Blood Cells Mol Dis
; 49(3-4): 170-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22818858
11.
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.
Diabetes
; 71(3): 578-584, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34556497
12.
Glucocorticoid-Induced Hyperinsulinism in a Preterm Neonate with Inherited ABCC8 Variant.
Metabolites
; 12(9)2022 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36144251
13.
Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms.
Blood
; 114(8): 1628-32, 2009 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-19564637
14.
Extent of hematopoietic involvement by TET2 mutations in JAK2V6¹7F polycythemia vera.
Haematologica
; 96(5): 775-8, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21273266
15.
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
J Med Genet
; 47(6): 404-10, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522430
16.
Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges.
Front Endocrinol (Lausanne)
; 12: 802423, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35069449
17.
Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide.
J Pediatr Endocrinol Metab
; 34(5): 667-673, 2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662190
18.
Biological behaviors of mutant proinsulin contribute to the phenotypic spectrum of diabetes associated with insulin gene mutations.
Mol Cell Endocrinol
; 518: 111025, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32916194
19.
School level of children carrying a HNF1B variant or a deletion.
Eur J Hum Genet
; 28(1): 56-63, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481685
20.
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
Hum Mutat
; 30(11): 1512-26, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19790256