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1.
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.
Hum Mol Genet
; 33(5): 465-474, 2024 Feb 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-37988592
2.
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Am J Hum Genet
; 109(11): 2018-2028, 2022 11 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36257325
3.
Safety and effectiveness of SGLT2 inhibitors in a UK population with type 2 diabetes and aged over 70 years: an instrumental variable approach.
Diabetologia
; 2024 Jun 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38836934
4.
Phenotype-based targeted treatment of SGLT2 inhibitors and GLP-1 receptor agonists in type 2 diabetes.
Diabetologia
; 67(5): 822-836, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38388753
5.
Developmentally dynamic changes in DNA methylation in the human pancreas.
BMC Genomics
; 25(1): 553, 2024 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38831310
6.
Fetal alleles predisposing to metabolically favorable adiposity are associated with higher birth weight.
Hum Mol Genet
; 31(11): 1762-1775, 2022 06 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34897462
7.
Integrating multiple lines of evidence to assess the effects of maternal BMI on pregnancy and perinatal outcomes.
BMC Med
; 22(1): 32, 2024 01 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38281920
8.
Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young.
BMC Med Res Methodol
; 24(1): 128, 2024 Jun 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38834992
9.
Recurrent 17q12 microduplications contribute to renal disease but not diabetes.
J Med Genet
; 60(5): 491-497, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36109160
10.
Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing.
Diabetologia
; 66(11): 1997-2006, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37653058
11.
The impact of population-level HbA1c screening on reducing diabetes diagnostic delay in middle-aged adults: a UK Biobank analysis.
Diabetologia
; 66(2): 300-309, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36411396
12.
The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes.
Diabetologia
; 66(2): 310-320, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36355183
13.
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.
J Clin Immunol
; 43(3): 662-669, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36600150
14.
Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies.
PLoS Genet
; 16(12): e1009191, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33284794
15.
Comparison of causal forest and regression-based approaches to evaluate treatment effect heterogeneity: an application for type 2 diabetes precision medicine.
BMC Med Inform Decis Mak
; 23(1): 110, 2023 06 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-37328784
16.
Understanding the pathogenesis of lean non-autoimmune diabetes in an African population with newly diagnosed diabetes.
Diabetologia
; 65(4): 675-683, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35138411
17.
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Diabetologia
; 65(7): 1179-1184, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35501400
18.
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Diabetologia
; 65(2): 336-342, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34686905
19.
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Am J Hum Genet
; 104(2): 275-286, 2019 02 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30665703
20.
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Am J Hum Genet
; 104(5): 985-989, 2019 05 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31006513