IRIS UniCatt

Genuardi, Maurizio
 Distribuzione geografica
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Continente #
NA - Nord America 8.103
AS - Asia 7.879
EU - Europa 5.454
SA - Sud America 1.530
AF - Africa 217
OC - Oceania 19
Continente sconosciuto - Info sul continente non disponibili 8
Totale 23.210
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Nazione #
US - Stati Uniti d'America 7.856
SG - Singapore 3.745
CN - Cina 1.394
BR - Brasile 1.272
IT - Italia 1.217
SE - Svezia 1.066
VN - Vietnam 1.038
DE - Germania 721
FR - Francia 523
IE - Irlanda 381
HK - Hong Kong 320
UA - Ucraina 307
PL - Polonia 300
ID - Indonesia 250
IN - India 250
GB - Regno Unito 211
JP - Giappone 203
FI - Finlandia 169
RU - Federazione Russa 165
BD - Bangladesh 154
CA - Canada 126
TR - Turchia 97
AR - Argentina 95
NL - Olanda 90
IQ - Iraq 88
ZA - Sudafrica 65
AT - Austria 63
MX - Messico 63
ES - Italia 55
PK - Pakistan 44
EC - Ecuador 42
KR - Corea 39
SA - Arabia Saudita 35
KE - Kenya 33
VE - Venezuela 31
CO - Colombia 30
BE - Belgio 28
CH - Svizzera 25
MA - Marocco 24
AE - Emirati Arabi Uniti 23
UZ - Uzbekistan 22
CI - Costa d'Avorio 20
IR - Iran 20
EG - Egitto 19
CZ - Repubblica Ceca 18
JM - Giamaica 18
PH - Filippine 18
MY - Malesia 17
UY - Uruguay 17
LT - Lituania 14
AU - Australia 12
IL - Israele 12
JO - Giordania 12
PY - Paraguay 12
AZ - Azerbaigian 11
NP - Nepal 11
PE - Perù 11
TN - Tunisia 11
TT - Trinidad e Tobago 11
CL - Cile 10
DZ - Algeria 10
KZ - Kazakistan 10
RS - Serbia 10
AL - Albania 9
BO - Bolivia 9
CR - Costa Rica 9
RO - Romania 9
TH - Thailandia 9
BG - Bulgaria 8
EU - Europa 8
EE - Estonia 7
ET - Etiopia 7
GR - Grecia 7
HN - Honduras 7
LB - Libano 7
MD - Moldavia 7
BH - Bahrain 6
NO - Norvegia 6
OM - Oman 6
DK - Danimarca 5
LK - Sri Lanka 5
NZ - Nuova Zelanda 5
PS - Palestinian Territory 5
PT - Portogallo 5
AO - Angola 4
BA - Bosnia-Erzegovina 4
DO - Repubblica Dominicana 4
HR - Croazia 4
LV - Lettonia 4
NG - Nigeria 4
NI - Nicaragua 4
SN - Senegal 4
BY - Bielorussia 3
GE - Georgia 3
KH - Cambogia 3
MU - Mauritius 3
PA - Panama 3
SI - Slovenia 3
SY - Repubblica araba siriana 3
AF - Afghanistan, Repubblica islamica di 2
Totale 23.165
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Città #
Singapore 2.052
Ashburn 1.091
San Jose 968
Chandler 608
Dublin 383
Beijing 368
Ho Chi Minh City 322
Tukwila 288
Hanoi 285
Hong Kong 284
Warsaw 272
Milan 265
Los Angeles 245
Jakarta 237
Rome 223
Lauterbourg 222
New York 218
Tokyo 189
Jacksonville 161
Wilmington 137
São Paulo 132
Chicago 121
San Mateo 115
Woodbridge 107
Nanjing 105
Cattolica 104
Moscow 104
Fairfield 97
Frankfurt am Main 93
Hefei 91
Munich 90
Dallas 88
Boston 86
The Dalles 86
Santa Clara 85
Hangzhou 77
Seattle 74
Ann Arbor 73
Houston 71
Helsinki 65
Hyderabad 64
Lawrence 61
Da Nang 59
Redmond 55
Buffalo 52
Orem 52
Shanghai 51
Boardman 50
Nuremberg 50
Paris 49
Council Bluffs 47
Princeton 46
Rio de Janeiro 46
Haiphong 43
Izmir 42
London 39
Atlanta 38
Toronto 38
Brooklyn 37
Johannesburg 37
Nanchang 37
Redwood City 37
Montreal 35
Seoul 35
Marseille 33
Cambridge 32
Phoenix 32
Denver 31
Belo Horizonte 30
Poplar 30
Stockholm 29
Baghdad 28
Chennai 28
Kent 27
Nairobi 27
Norwalk 27
Shenyang 27
Vienna 27
Zhengzhou 27
Amsterdam 26
Tianjin 25
Brasília 24
Dhaka 24
Pune 24
Salt Lake City 24
Curitiba 23
North Bergen 23
Turku 23
University Park 21
Abidjan 20
Mexico City 20
St Louis 20
Tashkent 20
Ankara 19
Brussels 19
Manchester 19
Memphis 19
Naples 19
Detroit 18
Guayaquil 18
Totale 12.665
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 449
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 393
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 275
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 253
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk 247
La Genomica in Sanità Pubblica. Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione. 237
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 220
DNA Methylation in the Diagnosis of Monogenic Diseases. 209
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 206
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 201
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 184
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 180
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 174
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 173
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 169
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 166
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 155
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 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 151
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 151
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 147
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 146
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 145
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy 145
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 142
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 141
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? 141
Efficacy and safety of once-weekly bortezomib in multiple myeloma patients 140
A split hand-split foot (SHFM3) gene is located at 10q24-->25 139
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 139
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16 138
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy 138
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? 137
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients 137
A PALB2 germline mutation associated with hereditary breast cancer in Italy 136
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 133
The policy of public health genomics in Italy 132
Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16 131
Workload measurement for molecular genetics laboratory: A survey study. 131
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 129
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. 129
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 129
Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias 129
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 128
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. 128
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies 128
Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center 127
Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2 127
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene 126
The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment 126
Clinical and Genetic Study of a Family With a Paternally Inherited 15q11-q13 Duplication 123
Gastrointestinal manifestarions in PTEN hamartoma tumor syndrome. 123
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 121
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 121
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe 121
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 120
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 120
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes 120
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 119
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis 118
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients 118
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 118
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database 116
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 116
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome 114
Lenalidomide, melphalan, prednisone and thalidomide (RMPT) for relapsed/refractory multiple myeloma 114
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. 114
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 114
Telomerase activity in human laryngeal squamous cell carcinomas 113
Planning the Human Variome Project: The Spain Report 113
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. 111
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 110
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. 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
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 109
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 109
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 108
Melphalan, prednisone, thalidomide and defibrotide in relapsed/refractory multiple myeloma: results of a multicenter phase I/II trial 108
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 108
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 108
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? 108
45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines 107
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts 107
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 107
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations 106
Towards a European consensus for reporting incidental findings during clinical NGS testing 106
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes 105
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 104
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity 104
Update of penetrance estimates in Birt-Hogg-Dubé syndrome 102
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 102
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)) 99
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma 98
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. 98
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events 97
Association between cyclin D1 (CCND1) gene amplification and human papillomavirus infection in human laryngeal squamous cell carcinoma 97
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 97
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H(+)-ATPase genes 97
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 96
Totale 13.882
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Categoria #
all - tutte 107.527
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 107.527
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/202611.179 1.485 311 527 1.042 1.890 749 2.429 564 658 705 580 239
2026/2027251 251 0 0 0 0 0 0 0 0 0 0 0
Totale 23.598