IRIS UniCatt

Genuardi, Maurizio
 Distribuzione geografica
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Continente #
AS - Asia 7.813
NA - Nord America 7.329
EU - Europa 5.329
SA - Sud America 1.508
AF - Africa 217
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 8
Totale 22.219
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Nazione #
US - Stati Uniti d'America 7.125
SG - Singapore 3.739
CN - Cina 1.385
BR - Brasile 1.263
IT - Italia 1.124
SE - Svezia 1.066
VN - Vietnam 1.036
DE - Germania 717
FR - Francia 520
IE - Irlanda 381
HK - Hong Kong 314
UA - Ucraina 305
PL - Polonia 297
ID - Indonesia 250
IN - India 249
GB - Regno Unito 206
JP - Giappone 203
FI - Finlandia 169
RU - Federazione Russa 165
BD - Bangladesh 112
CA - Canada 99
TR - Turchia 97
AR - Argentina 89
IQ - Iraq 88
NL - Olanda 86
ZA - Sudafrica 65
AT - Austria 63
MX - Messico 63
ES - Italia 52
PK - Pakistan 44
EC - Ecuador 40
KR - Corea 39
SA - Arabia Saudita 35
KE - Kenya 33
VE - Venezuela 31
BE - Belgio 28
CO - Colombia 26
MA - Marocco 24
AE - Emirati Arabi Uniti 23
CH - Svizzera 23
UZ - Uzbekistan 22
CI - Costa d'Avorio 20
IR - Iran 20
EG - Egitto 19
CZ - Repubblica Ceca 18
PH - Filippine 18
MY - Malesia 17
UY - Uruguay 16
LT - Lituania 14
IL - Israele 12
JO - Giordania 12
PY - Paraguay 12
AZ - Azerbaigian 11
NP - Nepal 11
PE - Perù 11
TN - Tunisia 11
CL - Cile 10
DZ - Algeria 10
KZ - Kazakistan 10
AL - Albania 9
BO - Bolivia 9
JM - Giamaica 9
RO - Romania 9
TH - Thailandia 9
TT - Trinidad e Tobago 9
AU - Australia 8
CR - Costa Rica 8
EU - Europa 8
RS - Serbia 8
BG - Bulgaria 7
EE - Estonia 7
ET - Etiopia 7
GR - Grecia 7
LB - Libano 7
BH - Bahrain 6
MD - Moldavia 6
NO - Norvegia 6
OM - Oman 6
DK - Danimarca 5
HN - Honduras 5
LK - Sri Lanka 5
NZ - Nuova Zelanda 5
PS - Palestinian Territory 5
PT - Portogallo 5
AO - Angola 4
BA - Bosnia-Erzegovina 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
SY - Repubblica araba siriana 3
AF - Afghanistan, Repubblica islamica di 2
CY - Cipro 2
DO - Repubblica Dominicana 2
Totale 22.175
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Città #
Singapore 2.047
Ashburn 1.003
San Jose 942
Chandler 608
Dublin 382
Beijing 366
Ho Chi Minh City 322
Hanoi 283
Hong Kong 278
Warsaw 272
Milan 258
Los Angeles 238
Jakarta 237
Lauterbourg 222
New York 210
Rome 208
Tokyo 189
Jacksonville 160
Wilmington 135
São Paulo 132
San Mateo 115
Chicago 114
Woodbridge 106
Nanjing 105
Cattolica 104
Moscow 104
Fairfield 97
Frankfurt am Main 93
Hefei 91
Munich 90
Boston 86
The Dalles 86
Dallas 81
Santa Clara 80
Hangzhou 77
Seattle 74
Ann Arbor 73
Houston 68
Helsinki 65
Hyderabad 64
Lawrence 61
Da Nang 59
Redmond 55
Orem 51
Nuremberg 50
Shanghai 50
Buffalo 47
Council Bluffs 47
Paris 47
Princeton 46
Rio de Janeiro 46
Haiphong 43
Izmir 42
London 38
Boardman 37
Johannesburg 37
Nanchang 37
Redwood City 37
Atlanta 35
Brooklyn 35
Seoul 35
Marseille 33
Cambridge 32
Toronto 32
Montreal 31
Belo Horizonte 30
Denver 30
Poplar 30
Phoenix 29
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
Tashkent 20
Ankara 19
Brussels 19
St Louis 19
Lappeenranta 18
Tampa 18
Dearborn 17
Guangzhou 17
Guayaquil 17
Lahore 17
Totale 12.152
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 446
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 383
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 272
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 251
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk 244
La Genomica in Sanità Pubblica. Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione. 233
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 216
DNA Methylation in the Diagnosis of Monogenic Diseases. 206
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 204
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 197
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 181
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 174
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 170
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 169
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 166
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 165
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 150
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 148
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: Towards specific guidelines and standard operating procedures for the molecular diagnosis 147
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 147
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 147
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 145
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 142
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 140
A split hand-split foot (SHFM3) gene is located at 10q24-->25 139
Efficacy and safety of once-weekly bortezomib in multiple myeloma patients 137
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients 136
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 136
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 136
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? 136
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy 135
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2? 134
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16 132
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy 132
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 132
Workload measurement for molecular genetics laboratory: A survey study. 130
A PALB2 germline mutation associated with hereditary breast cancer in Italy 129
The policy of public health genomics in Italy 128
Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2 127
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 127
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 127
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. 126
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 126
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene 125
Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias 124
The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment 124
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies 124
Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center 121
Gastrointestinal manifestarions in PTEN hamartoma tumor syndrome. 121
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 120
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 119
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 119
Clinical and Genetic Study of a Family With a Paternally Inherited 15q11-q13 Duplication 118
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. 118
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 118
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis 117
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients 117
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 117
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 115
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 115
Lenalidomide, melphalan, prednisone and thalidomide (RMPT) for relapsed/refractory multiple myeloma 114
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database 114
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe 114
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome 113
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. 113
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 112
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. 111
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. 110
Planning the Human Variome Project: The Spain Report 110
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 109
Telomerase activity in human laryngeal squamous cell carcinomas 108
Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16 108
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 108
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 107
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 107
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 107
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability 107
Melphalan, prednisone, thalidomide and defibrotide in relapsed/refractory multiple myeloma: results of a multicenter phase I/II trial 106
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? 106
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations 105
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 105
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup 104
Towards a European consensus for reporting incidental findings during clinical NGS testing 104
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes 104
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 103
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes 103
45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines 102
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts 102
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity 101
Update of penetrance estimates in Birt-Hogg-Dubé syndrome 97
Personalized treatment in a boy with NF1 and inoperable plexiform orbital neurofibroma 97
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 97
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. 97
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)) 96
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 95
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey 95
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 95
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H(+)-ATPase genes 95
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect 94
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events 93
Totale 13.548
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Categoria #
all - tutte 100.274
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 100.274
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021116 0 0 0 0 0 0 0 0 0 0 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
2025/202610.437 1.485 311 527 1.042 1.890 749 2.429 564 658 705 77 0
Totale 22.605