Antonio Pizzuti
Antonio Pizzuti
Professore di Genetica Medica, Università di Roma Sapienza
Patvirtintas el. paštas
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
AJMH Verkerk, M Pieretti, JS Sutcliffe, YH Fu, DPA Kuhl, A Pizzuti, ...
Cell 65 (5), 905-914, 1991
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
YH Fu, DPA Kuhl, A Pizzuti, M Pieretti, JS Sutcliffe, S Richards, ...
Cell 67 (6), 1047-1058, 1991
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
YH Fu, A Pizzuti, RG Fenwick Jr, J King, S Rajnarayan, PW Dunne, ...
Science 255 (5049), 1256-1258, 1992
Characterization of a murine gene expressed from the inactive X chromosome
G Borsani, R Tonlorenzi, MC Simmler, L Dandolo, D Arnaud, V Capra, ...
Nature 351 (6324), 325-329, 1991
Triplet repeat mutations in human disease
CT Caskey, A Pizzuti, YH Fu, RG Fenwick Jr, DL Nelson
Science 256 (5058), 784-789, 1992
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
P Kaurah, A MacMillan, N Boyd, J Senz, A De Luca, N Chun, G Suriano, ...
Jama 297 (21), 2360-2372, 2007
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
MC Digilio, E Conti, A Sarkozy, R Mingarelli, T Dottorini, B Marino, ...
The American Journal of Human Genetics 71 (2), 389-394, 2002
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
YH Fu, DL Friedman, S Richards, JA Pearlman, RA Gibbs, A Pizzuti, ...
Science 260 (5105), 235-238, 1993
Unravelling the complexity of T cell abnormalities in common variable immunodeficiency
A Giovannetti, M Pierdominici, F Mazzetta, M Marziali, C Renzi, AM Mileo, ...
The Journal of Immunology 178 (6), 3932-3943, 2007
TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells
C Colombrita, E Onesto, F Megiorni, A Pizzuti, FE Baralle, E Buratti, ...
Journal of Biological Chemistry 287 (19), 15635-15647, 2012
HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing
F Megiorni, A Pizzuti
Journal of biomedical science 19, 1-5, 2012
A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.
A Pizzuti, L Frittitta, A Argiolas, R Baratta, ID Goldfine, M Bozzali, ...
Diabetes 48 (9), 1881-1884, 1999
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain
A Bertolino, G Blasi, V Latorre, V Rubino, A Rampino, L Sinibaldi, ...
Journal of Neuroscience 26 (15), 3918-3922, 2006
Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring
JB Redman, RG Fenwick, YH Fu, A Pizzuti, CT Caskey
Jama 269 (15), 1960-1965, 1993
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
C Carta, F Pantaleoni, G Bocchinfuso, L Stella, I Vasta, A Sarkozy, ...
The American Journal of Human Genetics 79 (1), 129-135, 2006
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
A variation in 3′ UTR of hPTP1B increases specific gene expression and associates with insulin resistance
R Di Paola, L Frittitta, G Miscio, M Bozzali, R Baratta, M Centra, ...
The American Journal of Human Genetics 70 (3), 806-812, 2002
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
A Sarkozy, E Conti, D Seripa, MC Digilio, N Grifone, C Tandoi, VM Fazio, ...
Journal of medical genetics 40 (9), 704-708, 2003
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
F Kortüm, V Caputo, CK Bauer, L Stella, A Ciolfi, M Alawi, G Bocchinfuso, ...
Nature genetics 47 (6), 661-667, 2015
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
A Sarkozy, E Conti, MC Digilio, B Marino, E Morini, G Pacileo, M Wilson, ...
Journal of Medical Genetics 41 (5), e68-e68, 2004
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Straipsniai 1–20