DE MARCHI, Mario
 Distribuzione geografica
Continente #
NA - Nord America 6176
EU - Europa 4938
AS - Asia 2075
OC - Oceania 53
SA - Sud America 53
AF - Africa 37
Continente sconosciuto - Info sul continente non disponibili 10
Totale 13342
Nazione #
US - Stati Uniti d'America 5877
CN - Cina 1389
IT - Italia 818
DE - Germania 737
UA - Ucraina 634
SE - Svezia 559
GB - Regno Unito 486
FR - Francia 401
FI - Finlandia 369
KR - Corea 321
CA - Canada 279
AT - Austria 192
PL - Polonia 157
DK - Danimarca 143
ES - Italia 107
VN - Vietnam 87
IN - India 79
NL - Olanda 73
BE - Belgio 66
AU - Australia 49
JP - Giappone 46
RU - Federazione Russa 46
TR - Turchia 41
CH - Svizzera 37
GR - Grecia 25
BR - Brasile 24
IL - Israele 21
RO - Romania 20
IR - Iran 16
CO - Colombia 15
SN - Senegal 14
NO - Norvegia 13
MX - Messico 12
PK - Pakistan 12
CZ - Repubblica Ceca 10
EU - Europa 10
TH - Thailandia 10
PT - Portogallo 9
TW - Taiwan 9
UZ - Uzbekistan 9
AR - Argentina 8
SK - Slovacchia (Repubblica Slovacca) 8
BA - Bosnia-Erzegovina 6
CR - Costa Rica 5
HK - Hong Kong 5
ID - Indonesia 5
MA - Marocco 5
TN - Tunisia 5
AE - Emirati Arabi Uniti 4
BY - Bielorussia 4
HR - Croazia 4
IQ - Iraq 4
NZ - Nuova Zelanda 4
ZA - Sudafrica 4
HU - Ungheria 3
IE - Irlanda 3
LT - Lituania 3
SA - Arabia Saudita 3
CL - Cile 2
DZ - Algeria 2
EG - Egitto 2
JO - Giordania 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
RS - Serbia 2
SG - Singapore 2
SI - Slovenia 2
BG - Bulgaria 1
GE - Georgia 1
KZ - Kazakistan 1
LB - Libano 1
LK - Sri Lanka 1
LY - Libia 1
MU - Mauritius 1
PA - Panama 1
SC - Seychelles 1
UY - Uruguay 1
VE - Venezuela 1
Totale 13342
Città #
Beijing 1014
Ann Arbor 986
Houston 388
Jacksonville 386
Chandler 322
Medford 248
Fairfield 231
Wilmington 225
Dearborn 215
Redwood City 200
Woodbridge 193
Princeton 188
Vienna 185
Torino 177
Villeurbanne 165
Warsaw 144
Toronto 140
Milan 136
Ashburn 119
Fremont 117
Cambridge 114
Seattle 100
Verona 92
Dong Ket 63
Pisa 57
Boston 47
Ottawa 44
Nanjing 42
Lachine 37
Shanghai 37
Norwalk 34
Amsterdam 31
Guangzhou 29
Atlanta 25
Kunming 25
Paris 25
Hefei 24
Falls Church 22
Changsha 20
Fleurus 18
Wuhan 18
Barcelona 17
Brussels 17
Duncan 16
Jinan 16
Munich 16
Nyköping 16
Auburn Hills 15
Berlin 15
Bonn 15
Los Angeles 15
Madrid 15
Rome 15
Genova 14
Tokyo 14
Waltham 14
Mountain View 13
Phoenix 13
San Diego 13
Chicago 12
Düsseldorf 12
Rochester 12
Hangzhou 11
Nanchang 11
Nürnberg 11
Shenyang 11
Silver Spring 11
Bangalore 10
Florence 9
Hebei 9
Istanbul 9
London 9
Piemonte 9
Tianjin 9
Dallas 8
Laguna Woods 8
Lyndhurst 8
Seoul 8
Taipei 8
Valencia 8
Chengdu 7
Jerusalem 7
Lyon 7
Moscow 7
New York 7
Redmond 7
Stavanger 7
Cincinnati 6
Heidelberg 6
Leawood 6
Montréal 6
Padova 6
Salt Lake City 6
San Mateo 6
Santa Cruz 6
Scarnafigi 6
Trieste 6
Ankara 5
Bogotá 5
Chennai 5
Totale 7279
Nome #
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment 1517
Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria 445
GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS. 355
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans 299
Clinical and genetic aspects of Blau syndrome: A 25-year follow-up of one family and a literature review 261
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells 251
Association between Major Mood Disorders and the hypocretin receptor 1 gene 233
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma 232
Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome 216
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 208
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome 193
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type I 191
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients. 173
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells 162
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans 146
Uromodulinopathies May Show a Wider Phenotypic Spectrum and Be Responsible of as Many as 3% of Unspecific ESRF Cases 130
The Italian Multicenter Study of Primary Hyperoxaluria 123
Analysis of BclI, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma 121
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases 119
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients 115
Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer 114
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms. 114
Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance 112
A new CARD15 mutation in Blau syndrome 108
Analysis of TP53 Arg72Pro and MDM2 SNP309 T>G polymorphisms as modifier factors in hereditary retinoblastoma 108
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis 105
Primary hyperoxaluria in Italy 98
A new test for IgA containing immune complexes or aggregated IgA: its application to Berger and Schönlein-Henoch nephritis. 95
Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population 95
Characterization of the chymotriptic activity of the 26 S protease from bovine brain. 89
[A new test (conglutinin solid phase with anti IgA) for the detection of serum immune complexes in IgA antibody components] 89
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 89
Allogeneic antibodies detected by inhibition of lymphocyte reactivity and by immunofluorescence. 85
Two HLA-D and DR alleles are associated with coeliac disease. 85
[HLA and type-1 diabetes: a prospective study of all new cases diagnosed in Piedmont in one year] 84
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 80
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T cells 80
XO/XYY sex chromosome mosaicism associated with gonadal dysgenesis 79
HLA and antigluten antibodies in children with celiac disease. 74
Properdin factor B and glyoxalase 1 polymorphism in celiac disease. 74
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells 74
[Fanconi-Zinsser's disease associated to Lewandowsky-Lutz's disease (author's transl)] 73
[A case of pericentric inversion of chromosome 5 in a subject with papillary carcinoma of the thyroid and primary amenorrhea] 72
A Bg/II polymorphism in the COL4A6 gene. 72
True hermaphroditism with XX/XY sex chromosome mosaicism: report of a case. 72
Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes 72
Clinical and genetic study of primary hyperoxaluria in Italy 71
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome. 70
Central core disease: histochemical and ultrastructural study of muscle biopsies of father and daughter. 70
Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria 70
A new case of gamma-heavy chain disease (LIA protein) with deletion of the hinge region. 69
Italy - 1 Regional Report. Population and family analysis 69
SINGLE NUCLEOTIDE POLYMORPHISMS (SNP) AND HAPLOTYPES IN PSA PROMOTER: A NEW PROMISING PROSTATE CANCER SUSCEPTIBILITY AND PROGNOSIS PREDICTOR TOOL 68
Pulsed-field gel analysis of human immunoglobulin heavy-chain constant region gene deletions reveals the extent of unmapped regions within the locus. 67
[Interaction between HLA, Gm and sex in the predisposition to celiac disease] 67
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of Ataxia Telangiectasia 67
A simple method for sodium dodecyl-sulfate-polyacrylamide gel electrophoresis analysis of monoclonal components. 66
[Correlations between complement degradation products and circulating immune complexes in human glomerulonephritis] 66
An in vitro model of T cell receptor revision in mature human CD8(+) T cells 66
[X-linked congenital hydrocephalus. Description of a case] 65
La revisione del recettore in linfociti T umani: aspetti fisiologici e patologici 63
Cystic hygroma: prenatal diagnosis and genetic counselling. 62
Analysis of secondary V(D)J rearrangements in mature, peripheral T cells of ataxia-telangiectasia heterozygotes. 62
THE BURDEN OF MISDIAGNOSED RARE DISEASES IN RECIPIENT OF RENAL TRANSPLANTATION 62
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) 61
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. 61
[Immunologic study of the structure of HLA-DR. II. Anti-DR antibodies in the sera of two donors. Identification of two new antigens] 61
Gene deletions within the human immunoglobulin heavy chain constant region gene cluster. 60
Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates. 60
Unequal homologous crossing over resulting in duplication of 36 base pairs within exon 47 of the COL4A5 gene in a family with Alport syndrome. 59
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. 59
A radioimmunoassay typing study of non-DQw2-associated celiac disease. 59
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia. 59
De-novo COL4A5 gene mutations in Alport's syndrome. 58
HLA-DR3 and DR7 in coeliac disease: immunogenetic and clinical aspects. 58
Expression of alpha (IV) chains in Alport's syndrome and its correlation with ultrastructural and genetic data. 57
X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" Study 57
Subclass restriction pattern of antigen-specific antibodies in donors with defective expression of IgG or IgA subclass heavy chain constant region genes. 57
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 57
[Description of a case of ring chromosome 21 and pericentric inversion of Y chromosome] 56
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. 56
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. 55
Nuovi difetti nel controllo dlla stabilità genomica in cellule di pazienti AT e NBS 55
Alport syndrome caused by a 5' deletion within the COL4A5 gene. 55
Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. 54
Circulating immune complexes in nephritis. 54
Familial progressive external ophthalmoplegia with multisystem abnormalities: 'new' features raising nosological problems. 54
A recurrent breakpoint in the most common deletion of the Ig heavy chain locus (delA1-GP-G2-G4-E) 54
Definition of the smallest pathological CAG expansion in SCA7. 53
Characterization of hepatitis delta antigen gene of a highly pathogenic strain of hepatitis delta virus. 53
Atypical myeloproliferative disorder associated with a 21 trisomic clone. 53
Activation of human mature T lymphocytes through TCR engagement in the presence of IL-7 can induce receptor revision 52
RNASEL R462Q is significantly associated with Prostate Cancer in the Italian population 52
Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes 52
Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain. 51
Bioethics. 51
Prospective study assessing MDM2 309 and p53 Arg72Pro single nucleotide polymorphism (SNPs) and clinical outcome in advanced lung cancer 51
Apoptosis resistance following DNA damage in Ataxia Telangiectasia and Nijmegen Breakage Syndrome cells is conferred by a novel defect in mitochondrial p53 accumulation 51
A non-redundant ATM-, NBS1-, and p53-dependent apoptotic pathway induced by unrepaired double-strand breaks in human T lymphocytes 51
New approaches to the DNA diagnosis of Alport syndrome. 50
Totale 10978
Categoria #
all - tutte 17872
article - articoli 0
book - libri 0
conference - conferenze 3640
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 21512


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/20182079 0000 13539 90489 8573416761
2018/20191516 574912076 116229 77176 65131309111
2019/20202625 115109198301 251390 291148 257235176154
2020/20211959 154100165124 163129 20581 292147149250
2021/20223007 145159150324 181175 315178 110207544519
2022/2023670 2912149768 00 00 0000
Totale 13951