Stebėti
Giuseppe Novelli
Giuseppe Novelli
Professore di Genetica Medica, Università di Roma Tor Vergata
Patvirtintas el. paštas med.uniroma2.it - Pagrindinis puslapis
Pavadinimas
Cituota
Cituota
Metai
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ...
Science 370 (6515), eabd4570, 2020
21652020
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
13121997
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
10642012
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
10252010
Tre test clinici di ricerca e produzione lessicale. Taratura su sogetti normali.
G Novelli, C Papagno, E Capitani, M Laiacona
Archivio di psicologia, neurologia e psichiatria, 1986
8391986
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
6412002
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), 211-215, 2009
6192009
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
5742006
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), 1524-1532, 2009
5652009
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
4641994
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
4502021
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
4312010
Tre test clinici di memoria verbale a lungo termine: Taratura su soggetti normali.
G Novelli, C Papagno, E Capitani, M Laiacona
Archivio di psicologia, neurologia e psichiatria, 1986
4001986
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
3942000
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
3931989
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
3392021
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
3222001
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
2912004
Prospective observational study on acute appendicitis worldwide (POSAW)
M Sartelli, GL Baiocchi, S Di Saverio, F Ferrara, FM Labricciosa, ...
World Journal of Emergency Surgery 13, 1-10, 2018
2882018
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
C Ben Hamida, N Doerflinger, S Belal, C Linder, L Reutenauer, C Dib, ...
Nature genetics 5 (2), 195-200, 1993
2821993
Sistema negali atlikti operacijos. Bandykite vėliau dar kartą.
Straipsniai 1–20