GENUARDI, MAURIZIO
 Distribuzione geografica
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Continente #
NA - Nord America 8.366
EU - Europa 3.756
AS - Asia 924
AF - Africa 51
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
SA - Sud America 1
Totale 13.103
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Nazione #
US - Stati Uniti d'America 8.340
RU - Federazione Russa 1.266
IE - Irlanda 576
PL - Polonia 468
SE - Svezia 452
HK - Hong Kong 325
IT - Italia 304
SG - Singapore 265
UA - Ucraina 249
DE - Germania 166
FI - Finlandia 148
CN - Cina 130
IN - India 82
TR - Turchia 76
GB - Regno Unito 73
CI - Costa d'Avorio 39
JO - Giordania 27
CH - Svizzera 23
CA - Canada 19
FR - Francia 13
SC - Seychelles 10
VN - Vietnam 8
MX - Messico 7
BE - Belgio 6
NL - Olanda 6
KR - Corea 4
EU - Europa 3
AU - Australia 2
EE - Estonia 2
IL - Israele 2
IQ - Iraq 2
JP - Giappone 2
BG - Bulgaria 1
BR - Brasile 1
CM - Camerun 1
CZ - Repubblica Ceca 1
ES - Italia 1
MU - Mauritius 1
NO - Norvegia 1
TW - Taiwan 1
Totale 13.103
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Città #
Fairfield 1.295
Santa Clara 1.151
Ashburn 583
Dublin 575
Woodbridge 574
Chandler 545
Seattle 542
Cambridge 513
Warsaw 468
Houston 432
Jacksonville 408
Wilmington 406
Singapore 200
Hong Kong 191
Ann Arbor 156
Princeton 146
Boardman 108
Boston 87
Medford 79
Mumbai 76
Izmir 74
Lawrence 68
Beijing 61
Altamura 50
San Diego 50
Florence 45
Abidjan 39
Norwalk 39
Buffalo 29
New York 28
Shanghai 28
Moscow 25
Milan 23
Bern 20
Los Angeles 18
Andover 16
Hillsboro 14
Toronto 14
Frankfurt Am Main 13
Falls Church 12
Latina 9
Yubileyny 9
Dong Ket 8
Bremen 7
Kent 7
Mexico City 7
Verona 7
Auburn Hills 6
Brussels 6
Saint Petersburg 6
Bari 5
Bologna 5
Perugia 5
Rome 5
Tappahannock 5
Dijon 4
Fara Gera d'Adda 4
Laurel 4
London 4
Pune 4
Seoul 4
Chicago 3
Dearborn 3
Helsinki 3
Montréal 3
Palermo 3
Siena 3
Acton 2
Arnsberg 2
Azor 2
Brescia 2
Cremona 2
Erbil 2
Ferrara 2
Genoa 2
Kunming 2
Lausanne 2
Louisville 2
Montereale Valcellina 2
Nuremberg 2
Phoenix 2
Pianoro 2
Prato 2
Redmond 2
Romola 2
Shenzhen 2
Tokyo 2
Turin 2
West Jordan 2
Albano 1
Amsterdam 1
Arezzo 1
Atlanta 1
Bagno A Ripoli 1
Belleville 1
Brisbane 1
Brooklyn 1
Castello 1
Central 1
Chengdu 1
Totale 9.395
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Nome #
Lone and secondary nonvalvular atrial fibrillation: role of a genetic susceptibility 235
A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 222
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. 189
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 186
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. 156
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 145
Genetica umana e medica 142
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 138
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. 137
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. 134
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 134
A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene. 133
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer. 132
A girl with G syndrome and agenesis of the corpus callosum. 124
A split hand-split foot (SHFM3) gene is located at 10q24-->25. 123
Phenotype variability of neural crest-derived tumours in six Italian families segregating the same founder SDHD mutation Q109X. 120
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. 120
A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients 118
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies. 117
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. 116
Aetiology of colorectal cancer and relevance of monogenic inheritance 114
Simple and complex genetics of colorectal cancer susceptibility 114
Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum. 114
Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes 111
Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations. 111
A kindred with MYH-associated polyposis and pilomatricomas. 109
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2 108
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 108
Microsatellite instability is not related to response to cisplatin-based chemotherapy in cervical cancer. 108
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 108
Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC 107
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. 107
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? 106
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 106
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance 105
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. 105
A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability 104
A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case 104
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. 103
Stepwise functional assessment of unclassified DNA variants. 102
Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase 101
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. 101
Hereditary nonpolyposis colorectal cancer and related conditions 101
Genetic profiling of Bolivian population using 15 STR markers of forensic importance. 101
Analysis of 138 consecutive ovarian cancer patients: incidence and characteristics of familial cases. 100
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients. 100
First report of t(8;21)(q22;q22) in a case of de novo acute monoblastic leukemia. 99
Genetic STRs variation in a large population from Tuscany (Italy) 98
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21. 96
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. 96
Survival analysis in families affected by hereditary non-polyposis colorectal cancer. 96
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. 96
Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex. 95
Recommendations for genetic counseling of familial adenomatous polyposis. 95
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. 95
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified Variants in Lynch syndrome 93
Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study 93
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma 93
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1 92
Oral-facial-skeletal syndromes. 92
Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome. 92
The growing complexity of the intestinal polyposis syndromes. 92
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature. 91
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 91
Investigation of G2-phase chromosomal radiosensitivity in hereditary non-polyposis colorectal cancer cells 91
Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations. 91
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. 91
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 91
Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer 90
Inherited cancer predisposition 90
Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4. 90
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility 89
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 89
Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect. 88
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 87
Genetic counseling in hereditary non-polyposis colorectal cancer. 87
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers 87
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. 87
Alterazioni somatiche del gene kras in pazienti con mutazioni mono e bialleliche di MUTYH. 87
Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. 86
Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. 86
Expression of GLI-1 and cytoplasmic and secretory proteins in a human basal keratinocyte cell line. 86
The policy of public health genomics in Italy. 85
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients. 84
The CFC syndrome--report of the first two cases outside the United States. 84
Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease. 83
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal. 83
Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer 83
BRCA1-related malignancies in a family presenting with von Recklinghausen's disease. 83
CDKN2A germline splicing mutation affecting both P16ink4 and P14arf RNA processing in a melanoma/neurofibroma kindred 81
Planning the human variome project: the Spain report. 81
Differential expression of FRA16B in peripheral lymphocytes and bone marrow cells. 81
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. 81
Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. 81
Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q. 81
Encomium: Giovanni Neri-Polyhedral and down-to-earth mentor. 81
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012. 81
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphysms in primary colorectal cancer patients. 81
Microsatellite instability is an independent indicator of recurrence in sporadic stage I-II endometrial adenocarcinoma. 81
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity. 80
Totale 10.442
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Categoria #
all - tutte 33.048
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 33.048
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.983 0 0 0 0 296 366 311 347 285 134 202 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
2024/20253.198 161 552 314 723 1.448 0 0 0 0 0 0 0
Totale 13.140