IRIS UniCatt

Genuardi, Maurizio
 Distribuzione geografica
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Continente #
AS - Asia 5.864
NA - Nord America 5.518
EU - Europa 4.716
SA - Sud America 1.432
AF - Africa 182
OC - Oceania 14
Continente sconosciuto - Info sul continente non disponibili 8
Totale 17.734
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Nazione #
US - Stati Uniti d'America 5.357
SG - Singapore 3.188
CN - Cina 1.241
BR - Brasile 1.219
SE - Svezia 1.065
IT - Italia 936
DE - Germania 669
IE - Irlanda 376
UA - Ucraina 300
PL - Polonia 294
VN - Vietnam 280
FR - Francia 260
ID - Indonesia 246
IN - India 213
GB - Regno Unito 180
RU - Federazione Russa 163
FI - Finlandia 133
HK - Hong Kong 116
BD - Bangladesh 101
TR - Turchia 87
CA - Canada 85
AR - Argentina 75
NL - Olanda 71
IQ - Iraq 63
AT - Austria 61
ZA - Sudafrica 57
ES - Italia 50
JP - Giappone 50
MX - Messico 49
KR - Corea 38
EC - Ecuador 37
PK - Pakistan 37
SA - Arabia Saudita 30
VE - Venezuela 29
BE - Belgio 28
KE - Kenya 26
CO - Colombia 23
AE - Emirati Arabi Uniti 22
CH - Svizzera 22
IR - Iran 20
CI - Costa d'Avorio 19
CZ - Repubblica Ceca 18
MA - Marocco 17
UZ - Uzbekistan 16
EG - Egitto 15
JO - Giordania 12
LT - Lituania 12
UY - Uruguay 12
IL - Israele 11
PY - Paraguay 11
TN - Tunisia 11
KZ - Kazakistan 10
PE - Perù 10
AZ - Azerbaigian 9
DZ - Algeria 9
BO - Bolivia 8
EU - Europa 8
NP - Nepal 8
PH - Filippine 8
AL - Albania 7
AU - Australia 7
CL - Cile 7
EE - Estonia 7
GR - Grecia 7
BG - Bulgaria 6
BH - Bahrain 6
CR - Costa Rica 6
LB - Libano 6
RO - Romania 6
RS - Serbia 6
TH - Thailandia 6
DK - Danimarca 5
MY - Malesia 5
NO - Norvegia 5
NZ - Nuova Zelanda 5
OM - Oman 5
PT - Portogallo 5
TT - Trinidad e Tobago 5
AO - Angola 4
ET - Etiopia 4
HN - Honduras 4
LK - Sri Lanka 4
MD - Moldavia 4
NI - Nicaragua 4
PS - Palestinian Territory 4
SN - Senegal 4
BY - Bielorussia 3
GE - Georgia 3
JM - Giamaica 3
LV - Lettonia 3
NG - Nigeria 3
AF - Afghanistan, Repubblica islamica di 2
BA - Bosnia-Erzegovina 2
CY - Cipro 2
DO - Repubblica Dominicana 2
HR - Croazia 2
KG - Kirghizistan 2
KH - Cambogia 2
LA - Repubblica Popolare Democratica del Laos 2
LY - Libia 2
Totale 17.698
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Città #
Singapore 1.533
Ashburn 844
Chandler 608
Dublin 376
Beijing 345
Warsaw 269
Jakarta 237
Milan 192
New York 191
Los Angeles 186
Jacksonville 160
Rome 154
Wilmington 135
São Paulo 123
San Mateo 115
Hong Kong 111
Woodbridge 106
Nanjing 105
Cattolica 104
Moscow 104
Fairfield 97
Chicago 95
Hefei 91
Ho Chi Minh City 90
Munich 89
Boston 85
Dallas 78
Hangzhou 76
Ann Arbor 73
Seattle 72
Houston 66
Hyderabad 64
Hanoi 63
Lawrence 61
The Dalles 58
Frankfurt am Main 55
Redmond 55
Santa Clara 52
Princeton 46
Buffalo 45
Nuremberg 45
Rio de Janeiro 43
Izmir 42
Tokyo 39
Boardman 37
Nanchang 37
Redwood City 37
London 35
Johannesburg 34
Seoul 34
Shanghai 34
Helsinki 33
Cambridge 32
Marseille 32
Brooklyn 31
Orem 31
Belo Horizonte 30
Atlanta 29
Phoenix 29
Poplar 29
Stockholm 29
Toronto 29
Denver 27
Kent 27
Norwalk 27
Zhengzhou 27
Shenyang 26
Vienna 26
Montreal 25
Brasília 24
Pune 24
Curitiba 23
Nairobi 23
Turku 23
Dhaka 22
North Bergen 22
Salt Lake City 22
Tianjin 21
University Park 21
Abidjan 19
Brussels 19
Chennai 19
Ankara 18
Baghdad 18
Amsterdam 17
Dearborn 17
Guayaquil 17
Bremen 16
Mountain View 16
Tampa 16
Düsseldorf 15
Kunming 15
Millbury 15
Salvador 15
Tashkent 15
Detroit 14
Jiaxing 14
Lahore 14
Lappeenranta 14
Mexico City 14
Totale 8.907
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 429
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 327
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 248
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk 233
La Genomica in Sanità Pubblica. Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione. 213
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 195
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 183
DNA Methylation in the Diagnosis of Monogenic Diseases. 172
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 170
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 161
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 154
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 152
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 152
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 150
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 141
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 135
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 131
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 130
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 127
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 126
Efficacy and safety of once-weekly bortezomib in multiple myeloma patients 124
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 124
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 121
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16 118
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 118
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 117
A split hand-split foot (SHFM3) gene is located at 10q24-->25 115
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 115
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? 114
Workload measurement for molecular genetics laboratory: A survey study. 114
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 113
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 112
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. 112
Clinical and Genetic Study of a Family With a Paternally Inherited 15q11-q13 Duplication 111
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 109
The policy of public health genomics in Italy 109
A PALB2 germline mutation associated with hereditary breast cancer in Italy 109
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 108
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 107
The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment 107
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? 107
Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2 106
Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias 106
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 106
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients 104
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 104
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies 104
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy 103
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 103
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene 102
Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center 101
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 101
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 101
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. 100
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 100
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. 99
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 99
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy 99
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis 97
Gastrointestinal manifestarions in PTEN hamartoma tumor syndrome. 97
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome 95
Telomerase activity in human laryngeal squamous cell carcinomas 95
Lenalidomide, melphalan, prednisone and thalidomide (RMPT) for relapsed/refractory multiple myeloma 95
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 95
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe 95
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 95
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. 94
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations 93
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients 93
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 93
Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16 92
Planning the Human Variome Project: The Spain Report 92
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 91
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database 90
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup 89
Towards a European consensus for reporting incidental findings during clinical NGS testing 87
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? 87
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity 86
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. 86
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes 86
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. 85
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 85
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes 85
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 84
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events 83
INFLUENCE OF TYMS GENE EXPRESSION AND GENOTYPE ON THE CLINICAL OUTCOME OF COLORECTAL CANCER PATIENTS TREATED WITH 5-FLUOROURACIL 83
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 83
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma 82
Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012 82
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication. 81
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 80
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts 80
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. 79
Melphalan, prednisone, thalidomide and defibrotide in relapsed/refractory multiple myeloma: results of a multicenter phase I/II trial 79
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)) 79
InSiGHT Group. Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization. 79
The growing complexity of the intestinal polyposis syndromes. 78
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H(+)-ATPase genes 78
Update of penetrance estimates in Birt-Hogg-Dubé syndrome 77
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians 77
Totale 11.493
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Categoria #
all - tutte 90.682
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 90.682
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021393 0 0 0 0 0 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
2024/20253.764 105 69 324 163 237 169 127 148 549 324 956 593
2025/20265.848 1.485 311 527 1.042 1.890 593 0 0 0 0 0 0
Totale 18.016