Detalhe da pesquisa
1.
Why all MODY variants are dominantly inherited: a hypothesis.
Trends Genet
; 38(4): 321-324, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34696899
2.
Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.
Rev Endocr Metab Disord
; 24(4): 673-684, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165203
3.
Clonal copy-number mosaicism in autoreactive T lymphocytes in diabetic NOD mice.
Genome Res
; 29(12): 1951-1961, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694869
4.
Correction: Vitamin D levels and risk of type 1 diabetes: A Mendelian randomization study.
PLoS Med
; 18(4): e1003624, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33914743
5.
Vitamin D levels and risk of type 1 diabetes: A Mendelian randomization study.
PLoS Med
; 18(2): e1003536, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33630834
6.
Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.
Hum Mol Genet
; 28(20): 3498-3513, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31211845
7.
Causal variants in Maturity Onset Diabetes of the Young (MODY) - A systematic review.
BMC Endocr Disord
; 21(1): 223, 2021 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34763692
8.
Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.
Am J Med Genet B Neuropsychiatr Genet
; 177(7): 641-657, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30325587
9.
The insulin hypersecretion hypothesis: cause or effect?
Diabetologia
; 65(3): 582, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34921606
10.
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature.
J Cell Mol Med
; 21(11): 2985-2999, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28557176
11.
The common, autoimmunity-predisposing 620Arg > Trp variant of PTPN22 modulates macrophage function and morphology.
J Autoimmun
; 79: 74-83, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28237724
12.
Understanding type 1 diabetes through genetics: advances and prospects.
Nat Rev Genet
; 12(11): 781-92, 2011 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22005987
13.
Effect of autoimmunity risk loci on the honeymoon phase in type 1 diabetes.
Pediatr Diabetes
; 18(6): 459-462, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27503178
14.
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.
PLoS Med
; 13(6): e1001976, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27327646
15.
Rfx6 directs islet formation and insulin production in mice and humans.
Nature
; 463(7282): 775-80, 2010 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20148032
16.
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
CMAJ
; 187(2): E68-E73, 2015 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25602008
17.
Somatic point mutations occurring early in development: a monozygotic twin study.
J Med Genet
; 51(1): 28-34, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123875
18.
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
PLoS Genet
; 7(9): e1002293, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21980299
19.
Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.
J Biol Chem
; 287(21): 17882-17893, 2012 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22447927
20.
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Hum Genet
; 132(10): 1077-130, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23820649