GENUARDI, MAURIZIO
 Distribuzione geografica
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Continente #
NA - Nord America 10.702
EU - Europa 4.833
AS - Asia 3.541
SA - Sud America 438
AF - Africa 128
OC - Oceania 95
Continente sconosciuto - Info sul continente non disponibili 4
Totale 19.741
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Nazione #
US - Stati Uniti d'America 10.626
RU - Federazione Russa 1.816
SG - Singapore 1.086
CN - Cina 759
IE - Irlanda 578
HK - Hong Kong 564
PL - Polonia 480
SE - Svezia 458
IT - Italia 446
VN - Vietnam 370
BR - Brasile 366
KR - Corea 349
UA - Ucraina 257
DE - Germania 253
FI - Finlandia 193
FR - Francia 152
GB - Regno Unito 116
IN - India 116
AU - Australia 94
TR - Turchia 87
JP - Giappone 45
CI - Costa d'Avorio 39
CA - Canada 36
BD - Bangladesh 35
JO - Giordania 31
AR - Argentina 28
MX - Messico 25
CH - Svizzera 23
NG - Nigeria 20
ZA - Sudafrica 16
IQ - Iraq 14
NL - Olanda 13
ID - Indonesia 11
SC - Seychelles 10
EC - Ecuador 9
MA - Marocco 9
PK - Pakistan 9
UZ - Uzbekistan 9
CO - Colombia 8
VE - Venezuela 8
AZ - Azerbaigian 7
AE - Emirati Arabi Uniti 6
BE - Belgio 6
EG - Egitto 6
ES - Italia 6
SA - Arabia Saudita 6
SN - Senegal 6
CL - Cile 5
CZ - Repubblica Ceca 5
IL - Israele 5
LT - Lituania 5
MY - Malesia 5
PH - Filippine 5
PY - Paraguay 5
TN - Tunisia 5
UY - Uruguay 5
AT - Austria 4
DO - Repubblica Dominicana 4
HN - Honduras 4
KE - Kenya 4
TH - Thailandia 4
AL - Albania 3
BJ - Benin 3
DK - Danimarca 3
ET - Etiopia 3
EU - Europa 3
GE - Georgia 3
GR - Grecia 3
JM - Giamaica 3
NP - Nepal 3
OM - Oman 3
AO - Angola 2
BO - Bolivia 2
DZ - Algeria 2
EE - Estonia 2
KZ - Kazakistan 2
MD - Moldavia 2
NO - Norvegia 2
PA - Panama 2
PE - Perù 2
PS - Palestinian Territory 2
RS - Serbia 2
TW - Taiwan 2
AD - Andorra 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CM - Camerun 1
HU - Ungheria 1
LB - Libano 1
LV - Lettonia 1
LY - Libia 1
MU - Mauritius 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
QA - Qatar 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 19.741
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Città #
Santa Clara 1.818
Fairfield 1.295
Ashburn 1.114
Singapore 758
Dublin 577
Woodbridge 574
Chandler 545
Seattle 545
Cambridge 513
Warsaw 480
Houston 438
Hong Kong 426
Jacksonville 409
Wilmington 406
Seoul 348
San Jose 335
Beijing 236
Ann Arbor 156
Princeton 146
Los Angeles 134
The Dalles 133
Ho Chi Minh City 118
Lauterbourg 117
Boardman 108
Hefei 105
Buffalo 99
Boston 93
Melbourne 92
Hanoi 91
Mumbai 82
Medford 79
Izmir 76
Florence 71
Lawrence 68
Moscow 63
Munich 59
New York 55
Altamura 50
San Diego 50
Dallas 49
Tokyo 44
Abidjan 39
Norwalk 39
Shanghai 34
Milan 31
São Paulo 29
Kent 26
Helsinki 24
Turku 24
Chicago 23
Council Bluffs 21
Abuja 20
Bern 20
Haiphong 20
Frankfurt am Main 19
Da Nang 17
Andover 16
Paris 16
Toronto 16
Brooklyn 15
Redondo Beach 15
Rio de Janeiro 15
Bologna 14
Hillsboro 14
London 14
Orem 14
Frankfurt Am Main 13
Rome 13
Falls Church 12
Mexico City 11
Atlanta 10
Chennai 9
Latina 9
Phoenix 9
Yubileyny 9
Bari 8
Bremen 8
Dong Ket 8
Johannesburg 8
Baku 7
Perugia 7
San Francisco 7
Verona 7
Auburn Hills 6
Biên Hòa 6
Brussels 6
Dakar 6
Guangzhou 6
Jakarta 6
Manchester 6
Phủ Lý 6
Saint Petersburg 6
Stockholm 6
Tashkent 6
Baghdad 5
Belo Horizonte 5
Curitiba 5
Goiânia 5
Montreal 5
Pune 5
Totale 13.741
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Nome #
Genetica umana e medica 295
Lone and secondary nonvalvular atrial fibrillation: role of a genetic susceptibility 284
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. 269
A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 267
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 247
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. 239
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. 217
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 209
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. 200
A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene. 197
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. 196
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer. 195
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 194
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 188
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 187
A kindred with MYH-associated polyposis and pilomatricomas. 180
Aetiology of colorectal cancer and relevance of monogenic inheritance 175
Phenotype variability of neural crest-derived tumours in six Italian families segregating the same founder SDHD mutation Q109X. 174
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. 174
A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients 172
A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability 171
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2 167
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 167
The clinical role of PIK3CA mutations in colorectal cancer 166
A girl with G syndrome and agenesis of the corpus callosum. 165
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies. 164
A split hand-split foot (SHFM3) gene is located at 10q24-->25. 163
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 163
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 163
Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC 161
Simple and complex genetics of colorectal cancer susceptibility 161
Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes 160
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. 158
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 158
Analysis of 138 consecutive ovarian cancer patients: incidence and characteristics of familial cases. 157
Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations. 156
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 153
Alterazioni somatiche del gene kras in pazienti con mutazioni mono e bialleliche di MUTYH. 153
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance 151
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 150
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. 149
Expression of GLI-1 and cytoplasmic and secretory proteins in a human basal keratinocyte cell line. 147
A founder MLH1 mutation in hereditary non polyposis colorectal cancer families from the districts of Modena and Reggio-Emilia in Northern Italy associated with protein elongation and instability 146
A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case 146
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. 146
Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum. 146
Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase 145
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. 145
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? 143
Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome. 143
Genetic profiling of Bolivian population using 15 STR markers of forensic importance. 143
Thymidylate synthase and orotate phosphoribosyl-transferase gene expression and genotype as predictors for clinical outcome in colorectal cancer patients treated with 5-fluorouracil 142
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphysms in primary colorectal cancer patients. 142
Microsatellite instability is not related to response to cisplatin-based chemotherapy in cervical cancer. 142
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients. 140
Recommendations for genetic counseling of familial adenomatous polyposis. 137
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. 137
Association between cyclin D1 (CCND1) gene amplification and human papillomavirus infection in human laryngeal squamous cell carcinoma. 137
Hereditary nonpolyposis colorectal cancer and related conditions 137
Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4. 136
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. 136
Stepwise functional assessment of unclassified DNA variants. 135
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 135
Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations. 135
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified Variants in Lynch syndrome 134
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility 134
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. 134
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1 133
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers 133
The growing complexity of the intestinal polyposis syndromes. 133
The CFC syndrome--report of the first two cases outside the United States. 133
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21. 132
First report of t(8;21)(q22;q22) in a case of de novo acute monoblastic leukemia. 132
Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q. 131
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012. 129
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. 128
Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study 127
Heterogeneous distribution of GLI-1 expression in basal carcinoma cells. 127
Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex. 126
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature. 126
Genetic STRs variation in a large population from Tuscany (Italy) 125
Oral-facial-skeletal syndromes. 125
Microsatellite instability is an independent indicator of recurrence in sporadic stage I-II endometrial adenocarcinoma. 125
Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer 123
Genetic counseling in hereditary non-polyposis colorectal cancer. 123
The policy of public health genomics in Italy. 122
BRCA1-related malignancies in a family presenting with von Recklinghausen's disease. 122
Inherited cancer predisposition 121
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma 121
Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. 121
Thymidylate Synthase (TS) mRNA expression and TS gene promoter polymorphism in primary colorectal cancer (CRC) patients (PTS) receiving post-operative fluorouracil (5-FU)-based chemotherapy (CT) 121
CDKN2A germline splicing mutation affecting both P16ink4 and P14arf RNA processing in a melanoma/neurofibroma kindred 120
Planning the human variome project: the Spain report. 120
Differential expression of FRA16B in peripheral lymphocytes and bone marrow cells. 120
Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. 120
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients. 118
Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. 117
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity. 116
Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease. 116
Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer 116
Totale 15.360
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Categoria #
all - tutte 51.293
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 51.293
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021180 0 0 0 0 0 0 0 0 0 0 86 94
2021/2022827 19 82 40 37 49 49 42 58 66 34 112 239
2022/20232.151 257 203 82 155 225 434 295 146 219 8 75 52
2023/2024822 35 92 158 43 47 136 17 219 4 18 27 26
2024/20254.952 161 552 314 723 1.509 714 83 146 288 154 171 137
2025/20264.884 629 832 405 342 541 214 855 263 360 311 132 0
Totale 19.778