Detalhe da pesquisa
1.
Extending protein interaction networks using proteoforms and small molecules.
Bioinformatics
; 39(10)2023 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756698
2.
Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants.
J Biol Chem
; 298(4): 101803, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257744
3.
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Am J Hum Genet
; 107(4): 670-682, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910913
4.
Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders.
Psychol Med
; 53(5): 1750-1758, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37310338
5.
Congenital hyperinsulinism. / Medfødt hyperinsulinisme.
Tidsskr Nor Laegeforen
; 143(18)2023 12 12.
Artigo
em Inglês, Norueguês
| MEDLINE | ID: mdl-38088279
6.
Early manifestations of genetic risk for neurodevelopmental disorders.
J Child Psychol Psychiatry
; 63(7): 810-819, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34605010
7.
Maternal and offspring genetic risk score analyses of fetal alcohol exposure and attention-deficit hyperactivity disorder risk in offspring.
Alcohol Clin Exp Res
; 45(10): 2090-2102, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34486127
8.
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
Am J Hum Genet
; 93(1): 150-7, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23810379
9.
Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis.
PLoS Med
; 12(8): e1001865, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284790
10.
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
Nat Genet
; 38(1): 54-62, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16369531
11.
Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes.
PLoS One
; 19(4): e0300350, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38635808
12.
Intrauterine Growth and Offspring Neurodevelopmental Traits: A Mendelian Randomization Analysis of the Norwegian Mother, Father and Child Cohort Study (MoBa).
JAMA Psychiatry
; 81(2): 144-156, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37878341
13.
Maternal Fiber Intake During Pregnancy and Development of Attention-Deficit/Hyperactivity Disorder Symptoms Across Childhood: The Norwegian Mother, Father, and Child Cohort Study.
Biol Psychiatry
; 95(9): 839-848, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38142720
14.
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
Biochim Biophys Acta
; 1822(11): 1705-15, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22820548
15.
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
Pediatr Diabetes
; 14(6): 466-72, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22989030
16.
Structural properties of the HNF-1A transactivation domain.
Front Mol Biosci
; 10: 1249939, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37908230
17.
The Composite Autonomic Symptom Score 31 Questionnaire: A Sensitive Test to Detect Risk for Autonomic Neuropathy.
J Diabetes Res
; 2023: 4441115, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37593120
18.
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
Lancet Reg Health Eur
; 24: 100529, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36649380
19.
Subtype-Specific Surface Proteins on Adipose Tissue Macrophages and Their Association to Obesity-Induced Insulin Resistance.
Front Endocrinol (Lausanne)
; 13: 856530, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35480482
20.
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.
Eur J Hum Genet
; 29(1): 205-215, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778765