GENUARDI, MAURIZIO
 Distribuzione geografica
Continente #
NA - Nord America 6.980
EU - Europa 3.760
AS - Asia 921
AF - Africa 51
Continente sconosciuto - Info sul continente non disponibili 3
OC - Oceania 2
Totale 11.717
Nazione #
US - Stati Uniti d'America 6.954
RU - Federazione Russa 1.281
IE - Irlanda 576
PL - Polonia 468
SE - Svezia 452
HK - Hong Kong 327
IT - Italia 301
SG - Singapore 257
UA - Ucraina 248
DE - Germania 166
FI - Finlandia 148
CN - Cina 131
IN - India 84
TR - Turchia 76
GB - Regno Unito 73
CI - Costa d'Avorio 39
JO - Giordania 27
CH - Svizzera 23
CA - Canada 19
SC - Seychelles 10
FR - Francia 9
VN - Vietnam 8
MX - Messico 7
BE - Belgio 5
NL - Olanda 5
KR - Corea 4
EU - Europa 3
AU - Australia 2
EE - Estonia 2
IL - Israele 2
IQ - Iraq 2
JP - Giappone 2
BG - Bulgaria 1
CM - Camerun 1
CZ - Repubblica Ceca 1
MU - Mauritius 1
NO - Norvegia 1
TW - Taiwan 1
Totale 11.717
Città #
Fairfield 1.295
Ashburn 583
Dublin 575
Woodbridge 574
Chandler 545
Seattle 542
Cambridge 513
Warsaw 468
Houston 432
Jacksonville 408
Wilmington 406
Singapore 193
Hong Kong 192
Ann Arbor 156
Princeton 146
Boardman 108
Boston 87
Medford 79
Mumbai 76
Izmir 74
Lawrence 68
Beijing 62
Altamura 50
San Diego 50
Florence 45
Abidjan 39
Norwalk 39
Santa Clara 32
Buffalo 29
New York 28
Shanghai 28
Moscow 25
Bern 20
Milan 20
Los Angeles 17
Andover 16
Hillsboro 14
Toronto 14
Frankfurt Am Main 13
Falls Church 12
Latina 9
Yubileyny 9
Dong Ket 8
Bologna 7
Bremen 7
Kent 7
Mexico City 7
Verona 7
Auburn Hills 6
Saint Petersburg 6
Bari 5
Brussels 5
Perugia 5
Rome 5
Tappahannock 5
Fara Gera d'Adda 4
Laurel 4
London 4
Pune 4
Seoul 4
Chicago 3
Dearborn 3
Helsinki 3
Montréal 3
Siena 3
Acton 2
Arnsberg 2
Azor 2
Brescia 2
Chandigarh 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
Arezzo 1
Atlanta 1
Bagno A Ripoli 1
Belleville 1
Brisbane 1
Brooklyn 1
Castello 1
Central 1
Cesena 1
Chengdu 1
Chiswick 1
Totale 8.264
Nome #
Lone and secondary nonvalvular atrial fibrillation: role of a genetic susceptibility 226
A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 211
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. 180
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 168
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. 142
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 129
Genetica umana e medica 128
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 125
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. 124
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. 122
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer. 122
A rare combination consisting of aldosterone-producing adenoma and adrenal myelolipoma in a patient with heterozygosity for retinoblastoma (RB) gene. 121
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 116
A girl with G syndrome and agenesis of the corpus callosum. 114
A split hand-split foot (SHFM3) gene is located at 10q24-->25. 111
Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies. 108
A proteomics approach to identify changes in protein profiles in serum of Familial Adenomatous Polyposis patients 107
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. 107
Phenotype variability of neural crest-derived tumours in six Italian families segregating the same founder SDHD mutation Q109X. 105
The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. 104
Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum. 103
Aetiology of colorectal cancer and relevance of monogenic inheritance 101
Simple and complex genetics of colorectal cancer susceptibility 101
Microsatellite instability is not related to response to cisplatin-based chemotherapy in cervical cancer. 99
Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes 98
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. 98
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2 97
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? 97
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 97
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 97
Endometrial cancer and somatic G>T KRAS transversion in patients with constitutional MUTYH biallelic mutations. 96
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance 96
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. 96
A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability 95
Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. 94
A kindred with MYH-associated polyposis and pilomatricomas. 94
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 93
Stepwise functional assessment of unclassified DNA variants. 93
Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase 92
Genetic profiling of Bolivian population using 15 STR markers of forensic importance. 92
Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC 91
A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case 91
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients. 91
First report of t(8;21)(q22;q22) in a case of de novo acute monoblastic leukemia. 90
Hereditary nonpolyposis colorectal cancer and related conditions 90
Genetic STRs variation in a large population from Tuscany (Italy) 88
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21. 87
Analysis of 138 consecutive ovarian cancer patients: incidence and characteristics of familial cases. 87
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. 87
Survival analysis in families affected by hereditary non-polyposis colorectal cancer. 87
Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex. 86
Recommendations for genetic counseling of familial adenomatous polyposis. 86
X-linked VACTERL with hydrocephalus: the VACTERL-H syndrome. 86
A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum. 86
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. 86
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma 85
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified Variants in Lynch syndrome 84
Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study 84
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1 84
Oral-facial-skeletal syndromes. 84
The growing complexity of the intestinal polyposis syndromes. 84
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature. 83
Investigation of G2-phase chromosomal radiosensitivity in hereditary non-polyposis colorectal cancer cells 83
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. 83
Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer 82
Inherited cancer predisposition 82
Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility 81
Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect. 80
Genetic counseling in hereditary non-polyposis colorectal cancer. 79
Malignant extra-adrenal pheochromocytoma caused by an SDHB intronic variation leading to a 54-bp deletion in exon 4. 79
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. 79
Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. 78
Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. 78
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers 78
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 78
The policy of public health genomics in Italy. 77
Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome. 76
Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt-Jakob disease. 75
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients. 75
Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal. 75
Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer 75
Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations. 75
BRCA1-related malignancies in a family presenting with von Recklinghausen's disease. 75
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 75
The CFC syndrome--report of the first two cases outside the United States. 75
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 74
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 73
CDKN2A germline splicing mutation affecting both P16ink4 and P14arf RNA processing in a melanoma/neurofibroma kindred 72
Planning the human variome project: the Spain report. 72
Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q. 72
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012. 72
Fragile X founder chromosomes in Italy: a few initial events and possible explanation for their heterogeneity. 71
Differential expression of FRA16B in peripheral lymphocytes and bone marrow cells. 71
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. 71
Microsatellite instability is an independent indicator of recurrence in sporadic stage I-II endometrial adenocarcinoma. 71
Expression of GLI-1 and cytoplasmic and secretory proteins in a human basal keratinocyte cell line. 71
Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. 70
Encomium: Giovanni Neri-Polyhedral and down-to-earth mentor. 70
PCR detection of an insertion/deletion polymorphism in intron 1 of the HRAS1 locus. 69
Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8. 69
Totale 9.367
Categoria #
all - tutte 31.490
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 31.490


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
2022/20232.156 257 203 82 155 225 434 295 146 219 8 78 54
2023/2024830 35 93 159 43 47 136 18 223 4 18 27 27
2024/20251.800 166 554 318 734 28 0 0 0 0 0 0 0
Totale 11.755