Detalhe da pesquisa
1.
Detection of enterovirus RNA in peripheral blood mononuclear cells correlates with the presence of the predisposing allele of the type 1 diabetes risk gene IFIH1 and with disease stage.
Diabetologia
; 65(10): 1701-1709, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35867130
2.
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.
Diabetologia
; 65(1): 246-249, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618178
3.
Role of microRNAs in the age-associated decline of pancreatic beta cell function in rat islets.
Diabetologia
; 59(1): 161-169, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26474776
4.
A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1.
Diabetologia
; 58(4): 745-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25634229
5.
Methods for quick, accurate and cost-effective determination of the type 1 diabetes genetic risk score (T1D-GRS).
Clin Chem Lab Med
; 58(4): e102-e104, 2020 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31665112
6.
The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts.
BMC Genomics
; 14: 627, 2013 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24044605
7.
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Proc Natl Acad Sci U S A
; 107(7): 3105-10, 2010 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20133622
8.
Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records.
BMC Med Genomics
; 16(1): 231, 2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37784116
9.
MicroRNA expression profiling of human islets from individuals with and without type 2 diabetes: promises and pitfalls.
Biochem Soc Trans
; 40(4): 800-3, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22817737
10.
Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress.
Diabetes
; 70(4): 1006-1018, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500254
11.
Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.
Diabetes Care
; 42(2): 200-207, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655379
12.
The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
Diabetes
; 67(9): 1903-1907, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895593
13.
Functional characterisation of ADIPOQ variants using individuals recruited by genotype.
Mol Cell Endocrinol
; 428: 49-57, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26996131
14.
Targeted allelic expression profiling in human islets identifies cis-regulatory effects for multiple variants identified by type 2 diabetes genome-wide association studies.
Diabetes
; 64(4): 1484-91, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25392243
15.
A rare SNP in pre-miR-34a is associated with increased levels of miR-34a in pancreatic beta cells.
Acta Diabetol
; 51(2): 325-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23828613
16.
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
J Clin Endocrinol Metab
; 96(3): E498-502, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21252247
17.
RNA processing and mRNA surveillance in monogenic diabetes.
Gene Regul Syst Bio
; 2: 203-12, 2008 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-19787084
18.
The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.
Diabetes
; 57(6): 1745-52, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18356407