GENUARDI, MAURIZIO
 Distribuzione geografica
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Continente #
NA - Nord America 9.046
EU - Europa 3.856
AS - Asia 1.350
SA - Sud America 137
OC - Oceania 95
AF - Africa 59
Continente sconosciuto - Info sul continente non disponibili 3
Totale 14.546
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Nazione #
US - Stati Uniti d'America 9.014
RU - Federazione Russa 1.298
IE - Irlanda 577
HK - Hong Kong 501
PL - Polonia 468
SG - Singapore 465
SE - Svezia 452
IT - Italia 334
UA - Ucraina 251
DE - Germania 171
CN - Cina 153
FI - Finlandia 149
BR - Brasile 126
AU - Australia 94
IN - India 83
TR - Turchia 78
GB - Regno Unito 77
CI - Costa d'Avorio 39
FR - Francia 28
JO - Giordania 28
CH - Svizzera 23
CA - Canada 20
SC - Seychelles 10
MX - Messico 8
NL - Olanda 8
VN - Vietnam 8
BE - Belgio 6
IQ - Iraq 6
ID - Indonesia 5
AR - Argentina 4
KR - Corea 4
MA - Marocco 4
EU - Europa 3
IL - Israele 3
UZ - Uzbekistan 3
AT - Austria 2
BD - Bangladesh 2
BO - Bolivia 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
EE - Estonia 2
JP - Giappone 2
NO - Norvegia 2
SN - Senegal 2
VE - Venezuela 2
ZA - Sudafrica 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AZ - Azerbaigian 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
CM - Camerun 1
CO - Colombia 1
DK - Danimarca 1
ES - Italia 1
HN - Honduras 1
JM - Giamaica 1
LT - Lituania 1
MU - Mauritius 1
NZ - Nuova Zelanda 1
PH - Filippine 1
PK - Pakistan 1
PS - Palestinian Territory 1
PY - Paraguay 1
QA - Qatar 1
RS - Serbia 1
TH - Thailandia 1
TW - Taiwan 1
UY - Uruguay 1
Totale 14.546
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Città #
Santa Clara 1.793
Fairfield 1.295
Ashburn 584
Dublin 576
Woodbridge 574
Chandler 545
Seattle 543
Cambridge 513
Warsaw 468
Houston 432
Jacksonville 408
Wilmington 406
Hong Kong 367
Singapore 229
Ann Arbor 156
Princeton 146
Boardman 108
Melbourne 92
Boston 87
Beijing 84
Medford 79
Mumbai 76
Izmir 74
Lawrence 68
Florence 55
Altamura 50
San Diego 50
Abidjan 39
Norwalk 39
Buffalo 29
New York 28
Shanghai 28
Moscow 26
Los Angeles 23
Milan 23
Bern 20
Andover 16
Paris 15
Hillsboro 14
Toronto 14
Frankfurt Am Main 13
Falls Church 12
Latina 9
The Dalles 9
Yubileyny 9
Bremen 8
Dong Ket 8
Bari 7
Bologna 7
Chicago 7
Kent 7
Mexico City 7
Rio de Janeiro 7
Verona 7
Auburn Hills 6
Brussels 6
London 6
Saint Petersburg 6
São Paulo 6
Jakarta 5
Perugia 5
Rome 5
Tappahannock 5
Belo Horizonte 4
Dijon 4
Fara Gera d'Adda 4
Helsinki 4
Laurel 4
Prato 4
Pune 4
Seoul 4
Turin 4
Belém 3
Brasília 3
Dearborn 3
Montréal 3
Palermo 3
Siena 3
São José do Rio Preto 3
Tashkent 3
Acton 2
Araxá 2
Arnsberg 2
Azor 2
Basra 2
Brescia 2
Campinas 2
Casablanca 2
Caxias do Sul 2
Cremona 2
Dakar 2
Erbil 2
Ferrara 2
Genoa 2
Ipatinga 2
Jaboatão dos Guararapes 2
Joinville 2
Kunming 2
Lausanne 2
Lorena 2
Totale 10.439
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Nome #
Lone and secondary nonvalvular atrial fibrillation: role of a genetic susceptibility 252
A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 229
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. 199
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 197
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. 173
Genetica umana e medica 169
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 163
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. 154
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 150
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 149
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer. 146
A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene. 145
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. 144
A girl with G syndrome and agenesis of the corpus callosum. 135
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. 133
Simple and complex genetics of colorectal cancer susceptibility 131
A split hand-split foot (SHFM3) gene is located at 10q24-->25. 131
Phenotype variability of neural crest-derived tumours in six Italian families segregating the same founder SDHD mutation Q109X. 130
A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients 130
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. 127
Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes 126
Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations. 126
Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC 124
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies. 124
Aetiology of colorectal cancer and relevance of monogenic inheritance 124
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 122
A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability 121
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2 121
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 121
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 120
Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum. 119
A kindred with MYH-associated polyposis and pilomatricomas. 117
A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case 115
Hereditary nonpolyposis colorectal cancer and related conditions 114
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. 113
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. 113
Microsatellite instability is not related to response to cisplatin-based chemotherapy in cervical cancer. 113
Recommendations for genetic counseling of familial adenomatous polyposis. 112
Analysis of 138 consecutive ovarian cancer patients: incidence and characteristics of familial cases. 112
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. 112
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance 112
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? 111
Stepwise functional assessment of unclassified DNA variants. 111
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. 111
Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome. 110
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 109
First report of t(8;21)(q22;q22) in a case of de novo acute monoblastic leukemia. 108
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. 108
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 108
Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase 107
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21. 107
Genetic profiling of Bolivian population using 15 STR markers of forensic importance. 107
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 106
Genetic STRs variation in a large population from Tuscany (Italy) 105
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature. 105
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients. 105
Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study 103
Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations. 103
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. 103
Survival analysis in families affected by hereditary non-polyposis colorectal cancer. 103
Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex. 102
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. 102
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified Variants in Lynch syndrome 101
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1 101
Oral-facial-skeletal syndromes. 101
Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. 101
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers 101
Inherited cancer predisposition 100
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma 100
Expression of GLI-1 and cytoplasmic and secretory proteins in a human basal keratinocyte cell line. 100
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 99
Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4. 99
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphysms in primary colorectal cancer patients. 99
Alterazioni somatiche del gene kras in pazienti con mutazioni mono e bialleliche di MUTYH. 99
Investigation of G2-phase chromosomal radiosensitivity in hereditary non-polyposis colorectal cancer cells 98
The growing complexity of the intestinal polyposis syndromes. 98
The CFC syndrome--report of the first two cases outside the United States. 98
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility 97
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. 97
Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer 95
Genetic counseling in hereditary non-polyposis colorectal cancer. 95
Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q. 94
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients. 94
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012. 94
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. 94
Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect. 94
Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. 93
Differential expression of FRA16B in peripheral lymphocytes and bone marrow cells. 93
Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. 93
Association between cyclin D1 (CCND1) gene amplification and human papillomavirus infection in human laryngeal squamous cell carcinoma. 93
BRCA1-related malignancies in a family presenting with von Recklinghausen's disease. 93
Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer 92
Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease. 91
Encomium: Giovanni Neri-Polyhedral and down-to-earth mentor. 91
The policy of public health genomics in Italy. 91
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 90
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity. 90
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. 90
CDKN2A germline splicing mutation affecting both P16ink4 and P14arf RNA processing in a melanoma/neurofibroma kindred 89
Planning the human variome project: the Spain report. 88
Totale 11.528
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Categoria #
all - tutte 37.763
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 37.763
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020378 0 0 0 0 0 0 0 0 0 134 202 42
2020/20211.301 121 95 142 104 46 160 28 139 104 182 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
2024/20254.641 161 552 314 723 1.509 714 83 146 288 151 0 0
Totale 14.583