CINECA IRIS Institutional Research Information System

DE MARCHI, Mario
 Distribuzione geografica
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Continente #
NA - Nord America 8.704
EU - Europa 6.261
AS - Asia 2.490
SA - Sud America 75
OC - Oceania 65
AF - Africa 48
Continente sconosciuto - Info sul continente non disponibili 10
Totale 17.653
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Nazione #
US - Stati Uniti d'America 8.353
CN - Cina 1.446
IT - Italia 968
DE - Germania 780
SE - Svezia 724
UA - Ucraina 633
IE - Irlanda 624
GB - Regno Unito 583
FR - Francia 429
FI - Finlandia 390
KR - Corea 321
CA - Canada 319
AT - Austria 199
SG - Singapore 182
PL - Polonia 164
DK - Danimarca 153
ES - Italia 140
IN - India 136
NL - Olanda 97
BE - Belgio 95
VN - Vietnam 87
JP - Giappone 74
AU - Australia 58
TR - Turchia 56
RU - Federazione Russa 52
CH - Svizzera 51
GR - Grecia 46
BR - Brasile 41
HK - Hong Kong 32
IL - Israele 28
RO - Romania 25
MX - Messico 23
IR - Iran 22
PT - Portogallo 22
CO - Colombia 18
CZ - Repubblica Ceca 15
PK - Pakistan 15
SA - Arabia Saudita 14
SN - Senegal 14
NO - Norvegia 13
SK - Slovacchia (Repubblica Slovacca) 12
TH - Thailandia 11
AR - Argentina 10
EU - Europa 10
TW - Taiwan 10
HR - Croazia 9
UZ - Uzbekistan 9
HU - Ungheria 8
LT - Lituania 8
AE - Emirati Arabi Uniti 7
NZ - Nuova Zelanda 7
TN - Tunisia 7
ZA - Sudafrica 7
BA - Bosnia-Erzegovina 6
ID - Indonesia 6
KZ - Kazakistan 6
CR - Costa Rica 5
EG - Egitto 5
MA - Marocco 5
AZ - Azerbaigian 4
BY - Bielorussia 4
IQ - Iraq 4
PH - Filippine 4
BG - Bulgaria 3
LY - Libia 3
PS - Palestinian Territory 3
RS - Serbia 3
CL - Cile 2
DZ - Algeria 2
JO - Giordania 2
LV - Lettonia 2
MO - Macao, regione amministrativa speciale della Cina 2
MY - Malesia 2
PE - Perù 2
PR - Porto Rico 2
RE - Reunion 2
SI - Slovenia 2
AF - Afghanistan, Repubblica islamica di 1
AL - Albania 1
BN - Brunei Darussalam 1
BT - Bhutan 1
GE - Georgia 1
GL - Groenlandia 1
KE - Kenya 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LK - Sri Lanka 1
MU - Mauritius 1
PA - Panama 1
SC - Seychelles 1
UY - Uruguay 1
VE - Venezuela 1
Totale 17.653
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Città #
Chandler 1.208
Beijing 1.019
Ann Arbor 986
Dublin 620
Houston 393
Jacksonville 386
Ashburn 282
Medford 246
Fairfield 231
Wilmington 225
Dearborn 215
Redwood City 202
Woodbridge 193
Vienna 190
Princeton 187
Nyköping 177
Torino 177
Milan 169
Villeurbanne 166
Warsaw 149
Toronto 140
Seattle 122
Fremont 117
Cambridge 114
Verona 94
Singapore 92
New York 64
Boston 63
Dong Ket 63
Boardman 60
Pisa 57
Ottawa 44
Nanjing 42
Amsterdam 41
Shanghai 40
Brussels 39
Guangzhou 37
Lachine 37
Paris 35
Norwalk 34
Washington 33
Atlanta 31
Barcelona 29
Los Angeles 28
Rome 27
Kunming 25
Hefei 24
London 24
Helsinki 23
Turin 23
Falls Church 22
Changsha 21
Munich 21
Wuhan 20
Madrid 19
Phoenix 19
Fleurus 18
Athens 17
Berlin 17
Chicago 17
San Diego 17
Tokyo 17
Zurich 17
Chennai 16
Duncan 16
Jinan 16
São Paulo 16
Auburn Hills 15
Bonn 15
Dallas 14
Genova 14
Montreal 14
Waltham 14
Chengdu 13
Mountain View 13
Pune 13
Rochester 13
Düsseldorf 12
Hong Kong 12
Brescia 11
Istanbul 11
Nanchang 11
Nürnberg 11
Shenyang 11
Silver Spring 11
Bangalore 10
Cincinnati 10
Cleveland 10
Edinburgh 10
Florence 10
Madison 10
Pittsburgh 10
Tappahannock 10
Denver 9
Hangzhou 9
Hebei 9
Piemonte 9
Tianjin 9
Valencia 9
Bogotá 8
Totale 9.699
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Nome #
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment 2.066
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria 516
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS. 477
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 352
Clinical and genetic aspects of Blau syndrome: A 25-year follow-up of one family and a literature review 309
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells 273
Association between Major Mood Disorders and the hypocretin receptor 1 gene 273
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type I 270
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome 266
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 259
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 240
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 226
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 218
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells 205
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 173
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients 157
Uromodulinopathies May Show a Wider Phenotypic Spectrum and Be Responsible of as Many as 3% of Unspecific ESRF Cases 150
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms. 148
Analysis of BclI, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma 144
The Italian Multicenter Study of Primary Hyperoxaluria 135
A new test for IgA containing immune complexes or aggregated IgA: its application to Berger and Schönlein-Henoch nephritis. 132
Analysis of TP53 Arg72Pro and MDM2 SNP309 T>G polymorphisms as modifier factors in hereditary retinoblastoma 132
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 132
A new CARD15 mutation in Blau syndrome 129
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population 127
[A new test (conglutinin solid phase with anti IgA) for the detection of serum immune complexes in IgA antibody components] 127
Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer 126
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance 124
Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria 120
Allogeneic antibodies detected by inhibition of lymphocyte reactivity and by immunofluorescence. 119
[A case of pericentric inversion of chromosome 5 in a subject with papillary carcinoma of the thyroid and primary amenorrhea] 115
Primary hyperoxaluria in Italy 115
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis 115
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 113
Characterization of the chymotriptic activity of the 26 S protease from bovine brain. 111
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T cells 111
A new case of gamma-heavy chain disease (LIA protein) with deletion of the hinge region. 105
Italy - 1 Regional Report. Population and family analysis 103
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 102
A Bg/II polymorphism in the COL4A6 gene. 102
XO/XYY sex chromosome mosaicism associated with gonadal dysgenesis 102
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells 101
SINGLE NUCLEOTIDE POLYMORPHISMS (SNP) AND HAPLOTYPES IN PSA PROMOTER: A NEW PROMISING PROSTATE CANCER SUSCEPTIBILITY AND PROGNOSIS PREDICTOR TOOL 101
The cyclin-dependent kinase inhibitor 5, 6-dichloro-1-beta-D-ribofuranosylbenzimidazole induces nongenotoxic, DNA replication-independent apoptosis of normal and leukemic cells, regardless of their p53 status 99
[HLA and type-1 diabetes: a prospective study of all new cases diagnosed in Piedmont in one year] 98
Two HLA-D and DR alleles are associated with coeliac disease. 98
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of Ataxia Telangiectasia 98
A simple method for sodium dodecyl-sulfate-polyacrylamide gel electrophoresis analysis of monoclonal components. 97
Clinical and genetic study of primary hyperoxaluria in Italy 97
Central core disease: histochemical and ultrastructural study of muscle biopsies of father and daughter. 96
Circulating immune complexes containing IgA, IgG and IgM in patients with primary IgA nephropathy and with Henoch-Schoenlein nephritis. Correlation with clinical and histologic signs of activity. 96
[Fanconi-Zinsser's disease associated to Lewandowsky-Lutz's disease (author's transl)] 95
[Correlations between complement degradation products and circulating immune complexes in human glomerulonephritis] 95
[Interaction between HLA, Gm and sex in the predisposition to celiac disease] 94
True hermaphroditism with XX/XY sex chromosome mosaicism: report of a case. 93
A recurrent breakpoint in the most common deletion of the Ig heavy chain locus (delA1-GP-G2-G4-E) 93
Analysis of secondary V(D)J rearrangements in mature, peripheral T cells of ataxia-telangiectasia heterozygotes. 92
Cystic hygroma: prenatal diagnosis and genetic counselling. 91
Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes 90
Activation of human mature T lymphocytes through TCR engagement in the presence of IL-7 can induce receptor revision 89
Pulsed-field gel analysis of human immunoglobulin heavy-chain constant region gene deletions reveals the extent of unmapped regions within the locus. 88
Subclass restriction pattern of antigen-specific antibodies in donors with defective expression of IgG or IgA subclass heavy chain constant region genes. 88
P. 06.1 RELATIONSHIP BETWEEN NOD2/CARD15 GENE POLYMORPHISMS AND RESPONSE TO ANTI-TNF AGENTS IN INFLAMMATORY BOWEL DISEASES: RESULTS OF A CLINICAL COHORT STUDY 88
An in vitro model of T cell receptor revision in mature human CD8(+) T cells 88
Gene deletions within the human immunoglobulin heavy chain constant region gene cluster. 87
La revisione del recettore in linfociti T umani: aspetti fisiologici e patologici 87
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 87
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5. 86
Pharmacogenetics studies in patients with advanced lungcancer: prognostic value of the thymidylate synthase 2R/3Rpolymorphism and predictivity of NER factor XPD K751Qand XRCC1 R399Q polymorphisms following platinum-basedchemotherapy 86
HLA and antigluten antibodies in children with celiac disease. 85
[X-linked congenital hydrocephalus. Description of a case] 84
Properdin factor B and glyoxalase 1 polymorphism in celiac disease. 84
HLA-DR3 and DR7 in coeliac disease: immunogenetic and clinical aspects. 84
THE BURDEN OF MISDIAGNOSED RARE DISEASES IN RECIPIENT OF RENAL TRANSPLANTATION 84
[Description of a case of ring chromosome 21 and pericentric inversion of Y chromosome] 83
[Specificity, sensitivity and reproducibility of 2 methods of determining serum immunocomplexes (solid-phase C1q and polyethylene glycol precipitation)] 81
A non-redundant ATM-, NBS1-, and p53-dependent apoptotic pathway induced by unrepaired double-strand breaks in human T lymphocytes 81
A radioimmunoassay typing study of non-DQw2-associated celiac disease. 80
Circulating immune complexes in nephritis. 79
A case of Klinefelter's syndrome with 47, Xi(Xq)Y karyotype 79
A new restriction fragment length polymorphism in the haptoglobin gene region 79
Characterization of hepatitis delta antigen gene of a highly pathogenic strain of hepatitis delta virus. 78
Definition of the smallest pathological CAG expansion in SCA7. 76
RNASEL R462Q is significantly associated with Prostate Cancer in the Italian population 76
Nuovi difetti nel controllo dlla stabilità genomica in cellule di pazienti AT e NBS 75
Apoptosis resistance following DNA damage in Ataxia Telangiectasia and Nijmegen Breakage Syndrome cells is conferred by a novel defect in mitochondrial p53 accumulation 74
Endemic HBV infection, tissue autoantibodies and HLA. Analysis of a Sardinian population. 74
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 73
Bioethics. 72
Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes 72
[Immunologic study of the structure of HLA-DR. II. Anti-DR antibodies in the sera of two donors. Identification of two new antigens] 72
Patterns of Response to Allo immunization in Humans 70
Unequal homologous crossing over resulting in duplication of 36 base pairs within exon 47 of the COL4A5 gene in a family with Alport syndrome. 69
Antibody-dependent cell-mediated cytotoxicity in humans. I. Characterization of the effector cell. 68
Genetica delle Immunoglobuline 68
Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients 68
Pharmacogenetics studies in patients with advanced lung cancer: Prognostic value of the thymidylate synthase 2R/3R polymorphism and predictivity of NER factor XPD K751Q and XRCC1 R399Q polymorphisms following platinum-based chemotherapy 68
De-novo COL4A5 gene mutations in Alport's syndrome. 67
Coeliac disease and C4A*QO: an association secondary to HLA-DR3. 67
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates. 67
Totale 14.254
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Categoria #
all - tutte 43.869
article - articoli 0
book - libri 0
conference - conferenze 9.256
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 53.125
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.625 115 109 198 301 251 390 291 148 257 235 176 154
2020/20211.957 154 100 165 124 163 129 205 80 291 147 149 250
2021/20222.994 145 159 149 323 180 175 314 177 110 205 542 515
2022/20233.541 290 213 96 405 299 853 267 283 444 106 186 99
2023/20241.412 194 192 94 106 112 184 50 112 9 56 108 195
2024/202541 41 0 0 0 0 0 0 0 0 0 0 0
Totale 18.260