Daniela Toniolo
Daniela Toniolo
Head, Genetics of Common Disorders Unit, San Raffaele Scientific Institute, Milano, Italy
Dirección de correo verificada de hsr.it
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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
G Bonne, MR Di Barletta, S Varnous, HM Bécane, EH Hammouda, ...
Nature genetics 21 (3), 285-288, 1999
13981999
A reference panel of 64,976 haplotypes for genotype imputation
S McCarthy, S Das, W Kretzschmar, O Delaneau, AR Wood, A Teumer, ...
Nature genetics 48 (10), 1279-1283, 2016
12262016
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
S Bione, E Maestrini, S Rivella, M Mancini, S Regis, G Romeo, D Toniolo
Nature genetics 8 (4), 323-327, 1994
9751994
A novel X-linked gene, G4. 5. is responsible for Barth syndrome
S Bione, P D'Adamo, E Maestrini, AK Gedeon, PA Bolhuis, D Toniolo
Nature genetics 12 (4), 385-389, 1996
7371996
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
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
G Bonne, E Mercuri, A Muchir, A Urtizberea, HM Becane, D Recan, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
4742000
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
MR Di Barletta, E Ricci, G Galluzzi, P Tonali, M Mora, L Morandi, ...
The American Journal of Human Genetics 66 (4), 1407-1412, 2000
4342000
A general approach for haplotype phasing across the full spectrum of relatedness
J O'Connell, D Gurdasani, O Delaneau, N Pirastu, S Ulivi, M Cocca, ...
PLoS Genet 10 (4), e1004234, 2014
4192014
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
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
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
P D'Adamo, A Menegon, CL Nigro, M Grasso, M Gulisano, F Tamanini, ...
Nature genetics 19 (2), 134-139, 1998
3831998
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
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk
HR Warren, E Evangelou, CP Cabrera, H Gao, M Ren, B Mifsud, I Ntalla, ...
Nature genetics 49 (3), 403, 2017
3152017
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
Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5'non-coding region
MG Persico, G Viglietto, G Martini, D Toniolo, G Paonessa, C Moscatelli, ...
Nucleic acids research 14 (6), 2511-2522, 1986
2951986
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
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and …
S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, ...
The American Journal of Human Genetics 62 (3), 533-541, 1998
2851998
The X-linked gene G4. 5 is responsible for different infantile dilated cardiomyopathies
P D'Adamo, L Fassone, A Gedeon, EAM Janssen, S Bione, PA Bolhuis, ...
The American Journal of Human Genetics 61 (4), 862-867, 1997
2791997
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
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