IRIS UniCatt

Genuardi, Maurizio
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 9.436
AS - Asia 7.961
EU - Europa 5.594
SA - Sud America 1.575
Continente sconosciuto - Info sul continente non disponibili 400
AF - Africa 221
OC - Oceania 20
Totale 25.207
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 9.133
SG - Singapore 3.756
CN - Cina 1.410
IT - Italia 1.332
BR - Brasile 1.285
SE - Svezia 1.070
VN - Vietnam 1.044
DE - Germania 722
FR - Francia 524
IE - Irlanda 381
HK - Hong Kong 324
UA - Ucraina 307
PL - Polonia 302
ID - Indonesia 258
IN - India 250
GB - Regno Unito 215
JP - Giappone 205
BD - Bangladesh 173
FI - Finlandia 169
RU - Federazione Russa 165
CA - Canada 152
AR - Argentina 100
TR - Turchia 100
NL - Olanda 97
IQ - Iraq 88
MX - Messico 68
AT - Austria 65
ZA - Sudafrica 65
ES - Italia 56
EC - Ecuador 48
CO - Colombia 47
PK - Pakistan 45
KR - Corea 39
KE - Kenya 35
SA - Arabia Saudita 35
VE - Venezuela 33
BE - Belgio 28
CH - Svizzera 26
AE - Emirati Arabi Uniti 25
MA - Marocco 24
UZ - Uzbekistan 22
CI - Costa d'Avorio 20
IR - Iran 20
EG - Egitto 19
JM - Giamaica 19
MY - Malesia 19
PH - Filippine 19
CZ - Repubblica Ceca 18
UY - Uruguay 18
CR - Costa Rica 15
LT - Lituania 14
AU - Australia 13
JO - Giordania 13
HN - Honduras 12
IL - Israele 12
PE - Perù 12
PY - Paraguay 12
AZ - Azerbaigian 11
NP - Nepal 11
RS - Serbia 11
TH - Thailandia 11
TN - Tunisia 11
TT - Trinidad e Tobago 11
AL - Albania 10
CL - Cile 10
DZ - Algeria 10
KZ - Kazakistan 10
BO - Bolivia 9
RO - Romania 9
BG - Bulgaria 8
EU - Europa 8
LB - Libano 8
EE - Estonia 7
ET - Etiopia 7
GR - Grecia 7
MD - Moldavia 7
NI - Nicaragua 7
BH - Bahrain 6
NO - Norvegia 6
OM - Oman 6
DK - Danimarca 5
LK - Sri Lanka 5
NZ - Nuova Zelanda 5
PA - Panama 5
PS - Palestinian Territory 5
PT - Portogallo 5
AO - Angola 4
BA - Bosnia-Erzegovina 4
BB - Barbados 4
DO - Repubblica Dominicana 4
HR - Croazia 4
LV - Lettonia 4
NG - Nigeria 4
SN - Senegal 4
BY - Bielorussia 3
GE - Georgia 3
GT - Guatemala 3
KG - Kirghizistan 3
KH - Cambogia 3
LY - Libia 3
Totale 24.759
Salva come PNG Salva come JPEG
Città #
Singapore 2.058
Ashburn 1.245
San Jose 1.024
Chandler 608
Dublin 383
Beijing 378
Ho Chi Minh City 324
Hong Kong 288
Tukwila 288
Hanoi 287
Milan 282
Warsaw 274
Los Angeles 262
Jakarta 237
Rome 231
Lauterbourg 222
New York 222
Tokyo 190
Jacksonville 162
Wilmington 137
São Paulo 133
Chicago 124
San Mateo 115
Santa Clara 109
Woodbridge 107
Nanjing 105
Cattolica 104
Moscow 104
Dallas 98
Fairfield 97
Frankfurt am Main 93
Hefei 91
Boston 90
Munich 90
The Dalles 86
Hangzhou 77
Seattle 75
Ann Arbor 73
Houston 73
Helsinki 65
Atlanta 64
Hyderabad 64
Lawrence 62
Da Nang 59
Buffalo 55
Redmond 55
Orem 54
Shanghai 53
Boardman 50
Nuremberg 50
Paris 49
Council Bluffs 47
Princeton 46
Rio de Janeiro 46
Brooklyn 45
Haiphong 43
Toronto 43
Izmir 42
Phoenix 41
London 39
Johannesburg 37
Montreal 37
Nanchang 37
Redwood City 37
Seoul 35
Denver 33
Marseille 33
Cambridge 32
Belo Horizonte 30
Poplar 30
Nairobi 29
Stockholm 29
Baghdad 28
Chennai 28
Kent 28
Norwalk 28
Vienna 28
Amsterdam 27
Brasília 27
Shenyang 27
Zhengzhou 27
Salt Lake City 25
Tianjin 25
Detroit 24
Dhaka 24
Memphis 24
North Bergen 24
Pune 24
Curitiba 23
Turku 23
Guayaquil 21
Manchester 21
Naples 21
St Louis 21
Tampa 21
University Park 21
Abidjan 20
Mexico City 20
San Francisco 20
Tashkent 20
Totale 13.087
Salva come PNG Salva come JPEG
Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 452
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 425
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 356
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 290
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 282
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 256
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk 251
La Genomica in Sanità Pubblica. Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione. 240
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 224
DNA Methylation in the Diagnosis of Monogenic Diseases. 216
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 208
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 208
RAB32 mutation in Parkinson's disease [2] 206
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity 190
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 189
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 184
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 176
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 172
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 171
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes 168
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 159
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 156
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 155
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 155
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 150
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 150
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy 150
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 148
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 148
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? 146
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 145
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16 144
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients 142
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy 142
Efficacy and safety of once-weekly bortezomib in multiple myeloma patients 141
A split hand-split foot (SHFM3) gene is located at 10q24-->25 140
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 140
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? 139
A PALB2 germline mutation associated with hereditary breast cancer in Italy 139
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 136
Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16 135
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe 135
The policy of public health genomics in Italy 133
Workload measurement for molecular genetics laboratory: A survey study. 133
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 133
Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias 133
Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center 132
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 132
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. 132
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 131
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. 131
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies 131
The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment 129
Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2 127
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 127
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene 126
Gastrointestinal manifestarions in PTEN hamartoma tumor syndrome. 126
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis 125
Clinical and Genetic Study of a Family With a Paternally Inherited 15q11-q13 Duplication 125
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. 124
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 124
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 124
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 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
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database 122
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients 121
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 120
Lenalidomide, melphalan, prednisone and thalidomide (RMPT) for relapsed/refractory multiple myeloma 119
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome 117
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes 116
Telomerase activity in human laryngeal squamous cell carcinomas 116
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. 116
Planning the Human Variome Project: The Spain Report 115
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 115
Eur J Hum Genet . 2021 Feb;29(2):250-261. doi: 10.1038/s41431-020-00723-7. Epub 2020 Sep 14. Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 114
Update of penetrance estimates in Birt-Hogg-Dubé syndrome 113
45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines 113
Melphalan, prednisone, thalidomide and defibrotide in relapsed/refractory multiple myeloma: results of a multicenter phase I/II trial 113
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? 113
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 112
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. 112
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts 112
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes 112
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 111
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 111
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 110
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 110
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 110
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 110
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup 109
Towards a European consensus for reporting incidental findings during clinical NGS testing 108
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2 108
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations 106
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study 104
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events 103
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 102
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 102
Association between cyclin D1 (CCND1) gene amplification and human papillomavirus infection in human laryngeal squamous cell carcinoma 101
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)) 101
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. 101
Totale 14.882
Salva come PNG Salva come JPEG
Categoria #
all - tutte 115.058
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 115.058
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022730 0 0 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
2024/20253.764 105 69 324 163 237 169 127 148 549 324 956 593
2025/202611.179 1.485 311 527 1.042 1.890 749 2.429 564 658 705 580 239
2026/20271.860 483 1.001 376 0 0 0 0 0 0 0 0 0
Totale 25.207