Stefano Duga
Stefano Duga
Full professor of Molecular Biology, Humanitas University, IRCCS Istituto Clinico Humanitas
Email verificata su hunimed.eu - Home page
TitoloCitata daAnno
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
S Kathiresan, BF Voight, S Purcell, K Musunuru, D Ardissino, ...
Nature genetics 41 (3), 334-341, 2009
8812009
Recessively inherited coagulation disorders
PM Mannucci, S Duga, F Peyvandi
Blood 104 (5), 1243-1252, 2004
4422004
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
R Do, NO Stitziel, HH Won, AB Jørgensen, S Duga, PA Merlini, A Kiezun, ...
Nature 518 (7537), 102, 2015
3972015
Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia
AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, ...
Journal of the American College of Cardiology 67 (22), 2578-2589, 2016
3092016
Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease
Myocardial Infarction Genetics Consortium Investigators
New England Journal of Medicine 371 (22), 2072-2082, 2014
2892014
Rare coagulation deficiencies
F Peyvandi, S Duga, S Akhavan, PM Mannucci
Haemophilia 8 (3), 308-321, 2002
2412002
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks
GM Peloso, PL Auer, JC Bis, A Voorman, AC Morrison, NO Stitziel, ...
The American Journal of Human Genetics 94 (2), 223-232, 2014
2272014
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Myocardial Infarction Genetics Consortium
Nature genetics 41 (3), 334, 2009
1792009
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
BN Smith, N Ticozzi, C Fallini, AS Gkazi, S Topp, KP Kenna, EL Scotter, ...
Neuron 84 (2), 324-331, 2014
1762014
cDNA cloning of turtle prion protein
T Simonic, S Duga, B Strumbo, R Asselta, F Ceciliani, S Ronchi
FEBS letters 469 (1), 33-38, 2000
1312000
Genetic diagnosis of haemophilia and other inherited bleeding disorders
F Peyvandi, G Jayandharan, M Chandy, A Srivastava, SM Nakaya, ...
Haemophilia 12, 82-89, 2006
1282006
Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
S Duga, R Asselta, E Santagostino, S Zeinali, T Simonic, M Malcovati, ...
Blood 95 (4), 1336-1341, 2000
1282000
The molecular basis of quantitative fibrinogen disorders
R Asselta, S Duga, ML Tenchini
Journal of Thrombosis and Haemostasis 4 (10), 2115-2129, 2006
1272006
Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies
TL Assimes, H Hólm, S Kathiresan, MP Reilly, G Thorleifsson, BF Voight, ...
Journal of the American College of Cardiology 56 (19), 1552-1563, 2010
952010
Systematic evaluation of pleiotropy identifies 6 further loci associated with coronary artery disease
TR Webb, J Erdmann, KE Stirrups, NO Stitziel, NGD Masca, H Jansen, ...
Journal of the American College of Cardiology 69 (7), 823-836, 2017
902017
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs
R Asselta, S Duga, S Spena, E Santagostino, F Peyvandi, G Piseddu, ...
Blood 98 (13), 3685-3692, 2001
882001
Survival and dementia in GBA‐associated Parkinson's disease: The mutation matters
R Cilia, S Tunesi, G Marotta, E Cereda, C Siri, S Tesei, AL Zecchinelli, ...
Annals of neurology 80 (5), 662-673, 2016
862016
Inherited defects of coagulation factor V: the hemorrhagic side
R Asselta, ML Tenchini, S Duga
Journal of Thrombosis and Haemostasis 4 (1), 26-34, 2006
852006
Congenital factor XI deficiency: an update
S Duga, O Salomon
Seminars in thrombosis and hemostasis 39 (06), 621-631, 2013
832013
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia
NO Stitziel, SW Fouchier, B Sjouke, GM Peloso, AM Moscoso, PL Auer, ...
Arteriosclerosis, thrombosis, and vascular biology 33 (12), 2909-2914, 2013
792013
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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