IRIS UniCatt

Genuardi, Maurizio
 Distribuzione geografica
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Continente #
EU - Europa 4.167
NA - Nord America 4.093
AS - Asia 2.476
SA - Sud America 577
AF - Africa 45
OC - Oceania 10
Continente sconosciuto - Info sul continente non disponibili 8
Totale 11.376
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Nazione #
US - Stati Uniti d'America 4.046
SE - Svezia 1.039
SG - Singapore 902
CN - Cina 866
IT - Italia 863
DE - Germania 563
BR - Brasile 535
IE - Irlanda 375
UA - Ucraina 295
PL - Polonia 242
ID - Indonesia 238
FR - Francia 234
IN - India 147
RU - Federazione Russa 145
FI - Finlandia 103
GB - Regno Unito 84
TR - Turchia 64
NL - Olanda 58
HK - Hong Kong 56
KR - Corea 38
AT - Austria 35
CA - Canada 34
BE - Belgio 28
VN - Vietnam 27
BD - Bangladesh 18
CH - Svizzera 18
IR - Iran 18
ES - Italia 16
JP - Giappone 16
CI - Costa d'Avorio 15
CZ - Repubblica Ceca 15
PK - Pakistan 15
AE - Emirati Arabi Uniti 14
IQ - Iraq 13
AR - Argentina 12
ZA - Sudafrica 10
EU - Europa 8
MX - Messico 8
AU - Australia 7
CO - Colombia 7
EC - Ecuador 7
EE - Estonia 7
GR - Grecia 6
IL - Israele 6
LT - Lituania 6
PH - Filippine 6
MA - Marocco 5
NO - Norvegia 5
PT - Portogallo 5
TH - Thailandia 5
VE - Venezuela 5
BO - Bolivia 4
LK - Sri Lanka 4
PE - Perù 4
UZ - Uzbekistan 4
DK - Danimarca 3
LV - Lettonia 3
MY - Malesia 3
NZ - Nuova Zelanda 3
RO - Romania 3
TN - Tunisia 3
AZ - Azerbaigian 2
BG - Bulgaria 2
CL - Cile 2
CY - Cipro 2
DO - Repubblica Dominicana 2
EG - Egitto 2
GE - Georgia 2
HR - Croazia 2
MD - Moldavia 2
ML - Mali 2
NG - Nigeria 2
RS - Serbia 2
AF - Afghanistan, Repubblica islamica di 1
AL - Albania 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BY - Bielorussia 1
CR - Costa Rica 1
DZ - Algeria 1
GA - Gabon 1
IS - Islanda 1
JO - Giordania 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LU - Lussemburgo 1
ME - Montenegro 1
MU - Mauritius 1
NI - Nicaragua 1
NP - Nepal 1
PA - Panama 1
PS - Palestinian Territory 1
SC - Seychelles 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TW - Taiwan 1
TZ - Tanzania 1
Totale 11.375
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Città #
Chandler 608
Ashburn 584
Singapore 436
Dublin 374
Jakarta 235
Warsaw 227
Milan 183
Beijing 182
Jacksonville 155
Wilmington 133
New York 130
Rome 130
San Mateo 115
Woodbridge 106
Nanjing 105
Cattolica 104
Moscow 102
Fairfield 97
Los Angeles 80
Hangzhou 76
Ann Arbor 73
Boston 69
Seattle 68
Chicago 66
Hyderabad 63
Lawrence 61
Redmond 55
The Dalles 53
Hong Kong 52
Houston 46
Princeton 46
São Paulo 44
Izmir 42
Boardman 37
Nanchang 37
Nuremberg 37
Redwood City 37
Hefei 34
Seoul 34
Marseille 32
Shanghai 32
Helsinki 31
Cambridge 30
Munich 27
Norwalk 27
Zhengzhou 27
Shenyang 26
Santa Clara 24
Frankfurt am Main 22
Pune 22
University Park 21
Brussels 19
North Bergen 19
Belo Horizonte 18
Rio de Janeiro 18
Dearborn 17
Tianjin 17
Toronto 17
Vienna 17
Bremen 16
Mountain View 16
Abidjan 15
Düsseldorf 15
Kunming 15
London 15
Millbury 15
Jiaxing 14
Salt Lake City 14
Falls Church 13
Hebei 13
Nürnberg 13
Zurich 13
Arezzo 12
Brasília 12
Detroit 12
Guangzhou 12
Lauterbourg 12
Naples 12
Tampa 12
Andover 11
Boydton 11
Brno 11
Busto Arsizio 11
Phoenix 11
Washington 11
Augusta 10
Brooklyn 10
Chennai 10
Kish 10
Salvador 10
Stockholm 10
Fremont 9
Genoa 9
Simi Valley 9
Sterling 9
Tappahannock 9
Amsterdam 8
Bologna 8
Naaldwijk 8
Recife 8
Totale 6.053
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 396
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 248
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk 205
A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation 190
La Genomica in Sanità Pubblica. Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione. 190
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 161
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 142
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 132
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 129
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype 124
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 123
DNA Methylation in the Diagnosis of Monogenic Diseases. 122
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 118
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 113
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 104
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 103
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 102
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 100
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 96
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. 93
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 93
A split hand-split foot (SHFM3) gene is located at 10q24-->25 92
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 91
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 89
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 88
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 87
The policy of public health genomics in Italy 86
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients 86
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. 81
The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment 81
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 81
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 80
Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias 80
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 80
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? 79
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 78
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 78
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy 76
Workload measurement for molecular genetics laboratory: A survey study. 75
A PALB2 germline mutation associated with hereditary breast cancer in Italy 74
Lenalidomide, melphalan, prednisone and thalidomide (RMPT) for relapsed/refractory multiple myeloma 74
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. 74
Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. 74
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe 74
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 74
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 73
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 72
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. 71
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 70
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients 70
Efficacy and safety of once-weekly bortezomib in multiple myeloma patients 70
Towards a European consensus for reporting incidental findings during clinical NGS testing 70
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database 70
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 70
Clinical and Genetic Study of a Family With a Paternally Inherited 15q11-q13 Duplication 69
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 69
Gastrointestinal manifestarions in PTEN hamartoma tumor syndrome. 69
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 67
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 67
Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center 66
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 66
Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16 65
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 65
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 64
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts 64
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events 63
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. 63
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 63
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup 62
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations 62
INFLUENCE OF TYMS GENE EXPRESSION AND GENOTYPE ON THE CLINICAL OUTCOME OF COLORECTAL CANCER PATIENTS TREATED WITH 5-FLUOROURACIL 62
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes 62
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? 61
The growing complexity of the intestinal polyposis syndromes. 60
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis 60
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. 60
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 60
The growing complexity of the intestinal polyposis syndromes 59
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication. 59
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity 59
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy 59
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H(+)-ATPase genes 58
InSiGHT Group. Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization. 58
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 58
Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012 57
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies 57
Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report 56
Telomerase activity in human hematopoietic progenitor cells 56
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians 56
Melphalan, prednisone, thalidomide and defibrotide in relapsed/refractory multiple myeloma: results of a multicenter phase I/II trial 55
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)) 55
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 53
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome 53
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect 53
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? 53
Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2 52
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene 52
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes 52
Planning the Human Variome Project: The Spain Report 50
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 49
Totale 8.390
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Categoria #
all - tutte 69.359
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 69.359
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202090 0 0 0 0 0 0 0 0 0 0 0 90
2020/2021832 62 89 47 78 163 34 105 14 93 31 96 20
2021/20221.015 126 159 24 52 64 27 19 127 42 41 172 162
2022/20232.371 269 299 158 224 301 338 102 295 232 30 83 40
2023/20242.046 59 489 42 266 97 270 139 63 46 92 147 336
2024/20253.242 105 69 324 163 237 169 127 148 549 324 956 71
Totale 11.646