about
Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptationPost-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic VariationThe energy intake modulates the association of the -55CT polymorphism of UCP3 with body weight in type 2 diabetic patientsGenome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseasesInteractive data analysis and clustering of genomic data.A novel approach to simulate gene-environment interactions in complex diseases.Improving the estimation of celiac disease sibling risk by non-HLA genes.Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patientsThe PPARγ2 Pro12Ala variant is protective against progression of nephropathy in people with type 2 diabetes.High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs.Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia?An atlas of gene expression and gene co-regulation in the human retina.Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).Parent-of-origin-specific signatures of de novo mutations.PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.Pro12Ala polymorphism of the PPARgamma2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients.Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.Identification of C12orf4 as a gene for autosomal recessive intellectual disability.An extremely severe phenotype attributed to WDR81 nonsense mutations.Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.Author Correction: Parent-of-origin-specific signatures of de novo mutationsBroad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyVarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL databaseClustering, Assessment and Validation: an application to gene expression dataRecombinant human erythropoietin increases frataxin protein expression without increasing mRNA expressionPro12Ala polymorphism in the PPARG gene contributes to the development of diabetic nephropathy in Chinese type 2 diabetic patients: comment on the study by Liu et alCorrigendum to "The combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populations" [Nutr Metab Cardiovasc Dis 26 (2016) 400-406]First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutationThe combination of UCP3-55CT and PPARγ2Pro12Ala polymorphisms affects BMI and substrate oxidation in two diabetic populationsExpansion of the phenotype of lateral meningocele syndromeSphingolipid Metabolism Perturbations in Rett SyndromePain and sleep disturbances in Rett syndrome and other neurodevelopmental disordersA systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasisThree de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled femalesA small 7q11.23 microduplication involving GTF2I in a family with intellectual disability
P50
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P50
description
onderzoeker
@nl
researcher
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հետազոտող
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name
Michele Pinelli
@ast
Michele Pinelli
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Michele Pinelli
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Michele Pinelli
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type
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Michele Pinelli
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Michele Pinelli
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Michele Pinelli
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Michele Pinelli
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Michele Pinelli
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Michele Pinelli
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Michele Pinelli
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Michele Pinelli
@nl
P106
P1153
55907870100
P2456
P31
P496
0000-0002-5927-1185