Michele Pinelli
Michele Pinelli
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Parent-of-origin-specific signatures of de novo mutations
JM Goldmann, WSW Wong, M Pinelli, T Farrah, D Bodian, AB Stittrich, ...
Nature genetics 48 (8), 935-939, 2016
2092016
Post-zygotic point mutations are an underrecognized source of de novo genomic variation
R Acuna-Hidalgo, T Bo, MP Kwint, M Van De Vorst, M Pinelli, JA Veltman, ...
The American Journal of Human Genetics 97 (1), 67-74, 2015
1982015
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients
I Castaldo, M Pinelli, A Monticelli, F Acquaviva, M Giacchetti, A Filla, ...
Journal of medical genetics 45 (12), 808-812, 2008
1142008
High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs
M Karali, M Persico, M Mutarelli, A Carissimo, M Pizzo, V Singh Marwah, ...
Nucleic acids research 44 (4), 1525-1540, 2016
892016
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression
F Acquaviva, I Castaldo, A Filla, M Giacchetti, D Marmolino, A Monticelli, ...
The Cerebellum 7 (3), 360-365, 2008
612008
Pro12Ala polymorphism of the PPARγ2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients
O Vaccaro, E Lapice, A Monticelli, M Giacchetti, I Castaldo, R Galasso, ...
Diabetes care 30 (5), 1156-1161, 2007
572007
An atlas of gene expression and gene co-regulation in the human retina
M Pinelli, A Carissimo, L Cutillo, CH Lai, M Mutarelli, MN Moretti, ...
Nucleic acids research 44 (12), 5773-5784, 2016
502016
PPAR-γ agonist azelaoyl PAF increases frataxin protein and mRNA expression. New implications for the friedreich’s ataxia therapy
D Marmolino, F Acquaviva, M Pinelli, A Monticelli, I Castaldo, A Filla, ...
The Cerebellum 8 (2), 98-103, 2009
502009
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases
R Amato, M Pinelli, A Monticelli, D Marino, G Miele, S Cocozza
PloS one 4 (11), e7927, 2009
442009
Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation
R Amato, M Pinelli, A Monticelli, G Miele, S Cocozza
BMC evolutionary biology 10 (1), 1-12, 2010
422010
Improving the estimation of celiac disease sibling risk by non-HLA genes
V Izzo, M Pinelli, N Tinto, MV Esposito, A Cola, MP Sperandeo, F Tucci, ...
PloS one 6 (11), e26920, 2011
412011
β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus
M Pinelli, M Giacchetti, F Acquaviva, S Cocozza, G Donnarumma, ...
BMC medical genetics 7 (1), 1-9, 2006
402006
Interactive data analysis and clustering of genomic data
A Ciaramella, S Cocozza, F Iorio, G Miele, F Napolitano, M Pinelli, ...
Neural Networks 21 (2-3), 368-378, 2008
362008
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF)
M Pinelli, F Acquaviva, F Barbetti, E Caredda, S Cocozza, M Delvecchio, ...
PLoS One 8 (11), e79933, 2013
332013
A novel approach to simulate gene-environment interactions in complex diseases
R Amato, M Pinelli, D D'Andrea, G Miele, M Nicodemi, G Raiconi, ...
BMC bioinformatics 11 (1), 1-9, 2010
292010
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses
S Paolacci, V Precone, F Acquaviva, P Chiurazzi, E Fulcheri, M Pinelli, ...
Eur Rev Med Pharmacol Sci 23 (13), 5581-5594, 2019
272019
Paralog studies augment gene discovery: DDX and DHX genes
I Paine, JE Posey, CM Grochowski, SN Jhangiani, S Rosenheck, ...
The American Journal of Human Genetics 105 (2), 302-316, 2019
252019
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
G Astrea, A Romano, C Angelini, CG Antozzi, R Barresi, R Battini, ...
Orphanet journal of rare diseases 13 (1), 1-9, 2018
232018
A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis
M Jaeger, M Pinelli, M Borghi, C Constantini, M Dindo, L van Emst, ...
Science translational medicine 11 (496), 2019
222019
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet
G Cappuccio, M Pinelli, M Alagia, T Donti, DL Day-Salvatore, P Veggiotti, ...
PLoS One 12 (9), e0184022, 2017
212017
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Artikelen 1–20