Pio d'Adamo
Pio d'Adamo
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
A Köttgen, E Albrecht, A Teumer, V Vitart, J Krumsiek, C Hundertmark, ...
Nature genetics 45 (2), 145-154, 2013
5722013
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
CE Elks, JRB Perry, P Sulem, DI Chasman, N Franceschini, C He, ...
Nature genetics 42 (12), 1077-1085, 2010
4972010
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
JRB Perry, F Day, CE Elks, P Sulem, DJ Thompson, T Ferreira, C He, ...
Nature 514 (7520), 92-97, 2014
4272014
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
LV Wain, GC Verwoert, PF O'Reilly, G Shi, T Johnson, AD Johnson, ...
Nature genetics 43 (10), 1005-1011, 2011
4132011
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola, C Viscomi, E Fernandez-Vizarra, F Carrara, P D'Adamo, ...
Nature genetics 38 (5), 570-575, 2006
4062006
New gene functions in megakaryopoiesis and platelet formation
C Gieger, A Radhakrishnan, A Cvejic, W Tang, E Porcu, G Pistis, ...
Nature 480 (7376), 201-208, 2011
3962011
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
TC Pansuriya, R Van Eijk, P d'Adamo, MAJH Van Ruler, ML Kuijjer, ...
Nature genetics 43 (12), 1256-1261, 2011
3912011
Genetic structure of Europeans: a view from the north–east
M Nelis, T Esko, R Mägi, F Zimprich, A Zimprich, D Toncheva, ...
PloS one 4 (5), e5472, 2009
3522009
Seventy-five genetic loci influencing the human red blood cell
P Van Der Harst, W Zhang, IM Leach, A Rendon, N Verweij, J Sehmi, ...
Nature 492 (7429), 369-375, 2012
3072012
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
C Pattaro, A Teumer, M Gorski, AY Chu, M Li, V Mijatovic, M Garnaas, ...
Nature communications 7 (1), 1-19, 2016
2882016
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways
L Stolk, JRB Perry, DI Chasman, C He, M Mangino, P Sulem, M Barbalic, ...
Nature genetics 44 (3), 260-268, 2012
2642012
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
D Ghezzi, P Goffrini, G Uziel, R Horvath, T Klopstock, H Lochmüller, ...
Nature genetics 41 (6), 654-656, 2009
2362009
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
DE Arking, SL Pulit, L Crotti, P Van Der Harst, PB Munroe, TT Koopmann, ...
Nature genetics 46 (8), 826-836, 2014
2192014
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
V Tiranti, P D’Adamo, E Briem, G Ferrari, R Mineri, E Lamantea, H Mandel, ...
The American Journal of Human Genetics 74 (2), 239-252, 2004
1922004
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy
C Giordano, L Iommarini, L Giordano, A Maresca, A Pisano, ML Valentino, ...
Brain 137 (2), 335-353, 2014
1842014
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase
V Massa, E Fernandez-Vizarra, S Alshahwan, E Bakhsh, P Goffrini, ...
The American Journal of Human Genetics 82 (6), 1281-1289, 2008
1832008
Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor
P D’Adamo, F Novara, O Zuffardi, G Uziel, M Zeviani
The American Journal of Human Genetics 86, 639-649, 2010
1622010
Variation in the Bitter‐taste Receptor Gene TAS2R38, and Adiposity in a Genetically Isolated Population in Southern Italy
BJ Tepper, Y Koelliker, L Zhao, NV Ullrich, C Lanzara, P d'Adamo, ...
Obesity 16 (10), 2289-2295, 2008
1562008
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
D Ghezzi, P Arzuffi, M Zordan, C Da Re, C Lamperti, C Benna, P D'Adamo, ...
Nature genetics 43 (3), 259-263, 2011
1422011
Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria
M Font, L Feliubadaló, X Estivill, V Nunes, E Golomb, Y Kreiss, E Pras, ...
Human molecular genetics 10 (4), 305-316, 2001
1342001
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