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Michele Pinelli
Titolo
Citata da
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Anno
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
3102016
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
2662015
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
1392008
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
1142016
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
692016
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, 360-365, 2008
692008
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses.
S Paolacci, V Precone, F Acquaviva, P Chiurazzi, E Fulcheri, M Pinelli, ...
European Review for Medical & Pharmacological Sciences 23 (13), 2019
672019
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R SchŘle, M Synofzik, A T÷pf, ...
European journal of human genetics 29 (9), 1325-1331, 2021
662021
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, 98-103, 2009
642009
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
622007
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
602019
De novo heterozygous POLR2A variants cause a neurodevelopmental syndrome with profound infantile-onset hypotonia
HA Haijes, MJE Koster, H Rehmann, D Li, H Hakonarson, G Cappuccio, ...
The American Journal of Human Genetics 105 (2), 283-301, 2019
542019
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
502009
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
482013
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, 1-12, 2010
482010
Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema
S Michelini, P Chiurazzi, V Marino, D Dell’Orco, E Manara, M Baglivo, ...
International journal of molecular sciences 21 (17), 6264, 2020
472020
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
422011
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, 1-9, 2006
422006
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), eaar3558, 2019
412019
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
M Scala, A Torella, M Severino, G Morana, R Castello, A Accogli, ...
European Journal of Human Genetics 27 (8), 1254-1259, 2019
402019
Il sistema al momento non pu˛ eseguire l'operazione. Riprova pi¨ tardi.
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