Giuseppe Novelli
Giuseppe Novelli
Professore di Genetica Medica, Università di Roma Tor Vergata
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
AK Ryan, JA Goodship, DI Wilson, N Philip, A Levy, H Seidel, ...
Journal of medical genetics 34 (10), 798-804, 1997
11511997
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
A Strange, F Capon, CCA Spencer, J Knight, ME Weale, MH Allen, ...
Nature genetics 42 (11), 985, 2010
8372010
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart, F Capon, J Ding, ...
Nature genetics 44 (12), 1341-1348, 2012
7542012
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
G Novelli, A Muchir, F Sangiuolo, A Helbling-Leclerc, MR D’Apice, ...
The American Journal of Human Genetics 71 (2), 426-431, 2002
5512002
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
R De Cid, E Riveira-Munoz, PLJM Zeeuwen, J Robarge, W Liao, ...
Nature genetics 41 (2), 211, 2009
5362009
Lectin-like, oxidized low-density lipoprotein receptor-1 (LOX-1): a critical player in the development of atherosclerosis and related disorders
JL Mehta, J Chen, PL Hermonat, F Romeo, G Novelli
Cardiovascular research 69 (1), 36-45, 2006
4962006
MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1
R Menghini, V Casagrande, M Cardellini, E Martelli, A Terrinoni, F Amati, ...
Circulation 120 (15), 1524, 2009
4532009
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ...
Nature genetics 7 (2), 169-175, 1994
4071994
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis
U Hüffmeier, S Uebe, AB Ekici, J Bowes, E Giardina, E Korendowych, ...
Nature genetics 42 (11), 996-999, 2010
3572010
Laron dwarfism and mutations of the growth hormone–receptor gene
S Amselem, P Duquesnoy, O Attree, G Novelli, S Bousnina, ...
New England Journal of Medicine 321 (15), 989-995, 1989
3421989
Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma
P Amicucci, M Gennarelli, G Novelli, B Dallapiccola
Clinical chemistry 46 (2), 301-302, 2000
3102000
Mutations in the hepatocyte nuclear factor-1β gene are associated with familial hypoplastic glomerulocystic kidney disease
C Bingham, MP Bulman, S Ellard, LIS Allen, GW Lipkin, WG van't Hoff, ...
The American Journal of Human Genetics 68 (1), 219-224, 2001
2682001
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
JD Groman, TW Hefferon, T Casals, L Bassas, X Estivill, M Des Georges, ...
The American Journal of Human Genetics 74 (1), 176-179, 2004
2522004
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
CB Hamida, N Doerflinger, S Belal, C Linder, L Reutenauer, C Dib, ...
Nature genetics 5 (2), 195-200, 1993
2521993
Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1
F Capon, G Novelli, S Semprini, M Clementi, M Nudo, P Vultaggio, ...
Journal of Investigative Dermatology 112 (1), 32-35, 1999
2461999
Nutritional status: its influence on the outcome of patients undergoing liver transplantation
M Merli, M Giusto, F Gentili, G Novelli, G Ferretti, O Riggio, SG Corradini, ...
Liver International 30 (2), 208-214, 2010
2432010
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy
C Capanni, E Mattioli, M Columbaro, E Lucarelli, VK Parnaik, G Novelli, ...
Human molecular genetics 14 (11), 1489-1502, 2005
2262005
Transfer and expression of foreign genes in mammalian cells
A Colosimo, KK Goncz, AR Holmes, K Kunzelmann, G Novelli, ...
Biotechniques 29 (2), 314-331, 2000
2202000
Lung ultrasound-implemented diagnosis of acute decompensated heart failure in the ED
E Pivetta, A Goffi, E Lupia, M Tizzani, G Porrino, E Ferreri, G Volpicelli, ...
Chest 148 (1), 202-210, 2015
2162015
Survival motor-neuron gene transcript analysis in muscles from spinal muscular-atrophy patients
M Gennarelli, M Lucarelli, F Capon, A Pizzuti, L Merlini, C Angelini, ...
Biochemical and biophysical research communications 213 (1), 342-348, 1995
2071995
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Artículos 1–20