CINECA IRIS Institutional Research Information System

DE MARCHI, Mario
 Distribuzione geografica
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Continente #
NA - Nord America 8.630
EU - Europa 6.202
AS - Asia 2.291
SA - Sud America 71
OC - Oceania 62
AF - Africa 48
Continente sconosciuto - Info sul continente non disponibili 10
Totale 17.314
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Nazione #
US - Stati Uniti d'America 8.286
CN - Cina 1.432
IT - Italia 949
DE - Germania 769
SE - Svezia 724
UA - Ucraina 633
IE - Irlanda 624
GB - Regno Unito 579
FR - Francia 428
FI - Finlandia 390
KR - Corea 321
CA - Canada 315
AT - Austria 199
PL - Polonia 162
DK - Danimarca 153
ES - Italia 135
IN - India 132
NL - Olanda 97
BE - Belgio 93
VN - Vietnam 87
JP - Giappone 68
AU - Australia 57
TR - Turchia 54
RU - Federazione Russa 52
CH - Svizzera 51
GR - Grecia 44
BR - Brasile 39
IL - Israele 28
RO - Romania 25
SG - Singapore 25
HK - Hong Kong 24
IR - Iran 22
MX - Messico 20
CO - Colombia 18
PK - Pakistan 15
PT - Portogallo 15
SA - Arabia Saudita 14
SN - Senegal 14
NO - Norvegia 13
CZ - Repubblica Ceca 12
TH - Thailandia 11
EU - Europa 10
TW - Taiwan 10
HR - Croazia 9
SK - Slovacchia (Repubblica Slovacca) 9
UZ - Uzbekistan 9
AR - Argentina 8
HU - Ungheria 8
LT - Lituania 8
AE - Emirati Arabi Uniti 7
TN - Tunisia 7
ZA - Sudafrica 7
BA - Bosnia-Erzegovina 6
ID - Indonesia 6
CR - Costa Rica 5
EG - Egitto 5
MA - Marocco 5
NZ - Nuova Zelanda 5
BY - Bielorussia 4
IQ - Iraq 4
KZ - Kazakistan 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
PH - Filippine 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 17.314
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Città #
Chandler 1.208
Beijing 1.019
Ann Arbor 986
Dublin 620
Houston 391
Jacksonville 386
Ashburn 279
Medford 246
Fairfield 231
Wilmington 225
Dearborn 215
Redwood City 202
Woodbridge 193
Vienna 190
Princeton 187
Nyköping 177
Torino 177
Villeurbanne 166
Milan 163
Warsaw 147
Toronto 140
Seattle 122
Fremont 117
Cambridge 114
Verona 94
New York 64
Dong Ket 63
Boston 61
Boardman 59
Pisa 57
Ottawa 44
Nanjing 42
Amsterdam 41
Shanghai 40
Brussels 37
Lachine 37
Paris 35
Norwalk 34
Atlanta 31
Guangzhou 31
Washington 31
Los Angeles 28
Barcelona 27
Kunming 25
Rome 25
Hefei 24
London 24
Helsinki 23
Falls Church 22
Changsha 21
Munich 21
Turin 21
Wuhan 20
Madrid 19
Fleurus 18
Athens 17
San Diego 17
Tokyo 17
Zurich 17
Chicago 16
Duncan 16
Jinan 16
Phoenix 16
São Paulo 16
Auburn Hills 15
Berlin 15
Bonn 15
Chennai 14
Dallas 14
Genova 14
Montreal 14
Waltham 14
Mountain View 13
Pune 13
Rochester 13
Düsseldorf 12
Brescia 11
Chengdu 11
Nanchang 11
Nürnberg 11
Shenyang 11
Silver Spring 11
Bangalore 10
Cincinnati 10
Cleveland 10
Edinburgh 10
Pittsburgh 10
Tappahannock 10
Florence 9
Hangzhou 9
Hebei 9
Istanbul 9
Piemonte 9
Tianjin 9
Valencia 9
Bogotá 8
Hong Kong 8
Laguna Woods 8
Lyndhurst 8
Melbourne 8
Totale 9.563
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Nome #
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment 2.002
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria 512
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS. 450
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 347
Clinical and genetic aspects of Blau syndrome: A 25-year follow-up of one family and a literature review 307
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells 270
Association between Major Mood Disorders and the hypocretin receptor 1 gene 267
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome 262
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 255
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type I 241
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 238
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 223
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 217
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells 203
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 171
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients 155
Uromodulinopathies May Show a Wider Phenotypic Spectrum and Be Responsible of as Many as 3% of Unspecific ESRF Cases 149
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms. 147
Analysis of BclI, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma 143
The Italian Multicenter Study of Primary Hyperoxaluria 134
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 131
A new test for IgA containing immune complexes or aggregated IgA: its application to Berger and Schönlein-Henoch nephritis. 130
Analysis of TP53 Arg72Pro and MDM2 SNP309 T>G polymorphisms as modifier factors in hereditary retinoblastoma 130
A new CARD15 mutation in Blau syndrome 128
Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer 126
[A new test (conglutinin solid phase with anti IgA) for the detection of serum immune complexes in IgA antibody components] 126
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance 123
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population 122
Allogeneic antibodies detected by inhibition of lymphocyte reactivity and by immunofluorescence. 118
Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria 118
[A case of pericentric inversion of chromosome 5 in a subject with papillary carcinoma of the thyroid and primary amenorrhea] 113
Primary hyperoxaluria in Italy 113
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis 112
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T cells 111
Characterization of the chymotriptic activity of the 26 S protease from bovine brain. 110
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 110
A new case of gamma-heavy chain disease (LIA protein) with deletion of the hinge region. 104
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
Italy - 1 Regional Report. Population and family analysis 101
XO/XYY sex chromosome mosaicism associated with gonadal dysgenesis 101
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells 100
SINGLE NUCLEOTIDE POLYMORPHISMS (SNP) AND HAPLOTYPES IN PSA PROMOTER: A NEW PROMISING PROSTATE CANCER SUSCEPTIBILITY AND PROGNOSIS PREDICTOR TOOL 100
[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. 97
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of Ataxia Telangiectasia 97
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 97
A simple method for sodium dodecyl-sulfate-polyacrylamide gel electrophoresis analysis of monoclonal components. 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
Central core disease: histochemical and ultrastructural study of muscle biopsies of father and daughter. 95
[Correlations between complement degradation products and circulating immune complexes in human glomerulonephritis] 95
Clinical and genetic study of primary hyperoxaluria in Italy 95
[Fanconi-Zinsser's disease associated to Lewandowsky-Lutz's disease (author's transl)] 94
A recurrent breakpoint in the most common deletion of the Ig heavy chain locus (delA1-GP-G2-G4-E) 93
True hermaphroditism with XX/XY sex chromosome mosaicism: report of a case. 92
Cystic hygroma: prenatal diagnosis and genetic counselling. 91
Analysis of secondary V(D)J rearrangements in mature, peripheral T cells of ataxia-telangiectasia heterozygotes. 91
Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes 89
Pulsed-field gel analysis of human immunoglobulin heavy-chain constant region gene deletions reveals the extent of unmapped regions within the locus. 88
Activation of human mature T lymphocytes through TCR engagement in the presence of IL-7 can induce receptor revision 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 87
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 87
An in vitro model of T cell receptor revision in mature human CD8(+) T cells 87
Gene deletions within the human immunoglobulin heavy chain constant region gene cluster. 86
Subclass restriction pattern of antigen-specific antibodies in donors with defective expression of IgG or IgA subclass heavy chain constant region genes. 86
La revisione del recettore in linfociti T umani: aspetti fisiologici e patologici 86
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. 85
HLA and antigluten antibodies in children with celiac disease. 85
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 85
[Interaction between HLA, Gm and sex in the predisposition to celiac disease] 83
[X-linked congenital hydrocephalus. Description of a case] 83
Properdin factor B and glyoxalase 1 polymorphism in celiac disease. 83
HLA-DR3 and DR7 in coeliac disease: immunogenetic and clinical aspects. 83
[Description of a case of ring chromosome 21 and pericentric inversion of Y chromosome] 82
[Specificity, sensitivity and reproducibility of 2 methods of determining serum immunocomplexes (solid-phase C1q and polyethylene glycol precipitation)] 81
THE BURDEN OF MISDIAGNOSED RARE DISEASES IN RECIPIENT OF RENAL TRANSPLANTATION 81
A non-redundant ATM-, NBS1-, and p53-dependent apoptotic pathway induced by unrepaired double-strand breaks in human T lymphocytes 80
A radioimmunoassay typing study of non-DQw2-associated celiac disease. 79
Circulating immune complexes in nephritis. 78
A new restriction fragment length polymorphism in the haptoglobin gene region 78
Characterization of hepatitis delta antigen gene of a highly pathogenic strain of hepatitis delta virus. 78
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
Definition of the smallest pathological CAG expansion in SCA7. 73
A case of Klinefelter's syndrome with 47, Xi(Xq)Y karyotype 73
Endemic HBV infection, tissue autoantibodies and HLA. Analysis of a Sardinian population. 73
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 72
Bioethics. 71
Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes 71
[Immunologic study of the structure of HLA-DR. II. Anti-DR antibodies in the sera of two donors. Identification of two new antigens] 71
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
Patterns of Response to Allo immunization in Humans 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 67
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates. 67
De-novo COL4A5 gene mutations in Alport's syndrome. 66
Coeliac disease and C4A*QO: an association secondary to HLA-DR3. 66
Atypical myeloproliferative disorder associated with a 21 trisomic clone. 66
Totale 13.994
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Categoria #
all - tutte 40.892
article - articoli 0
book - libri 0
conference - conferenze 8.640
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 49.532
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019420 0 0 0 0 0 0 0 0 0 0 309 111
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
2023/20241.114 194 192 94 106 112 184 50 112 9 56 5 0
Totale 17.921