IRIS PubliCatt

Genuardi, Maurizio
 Distribuzione geografica
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Continente #
EU - Europa 3.670
NA - Nord America 3.528
AS - Asia 1.107
AF - Africa 22
SA - Sud America 10
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 5
Totale 8.350
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Nazione #
US - Stati Uniti d'America 3.501
SE - Svezia 1.007
IT - Italia 709
CN - Cina 601
DE - Germania 475
IE - Irlanda 373
UA - Ucraina 289
SG - Singapore 286
PL - Polonia 238
FR - Francia 184
RU - Federazione Russa 128
FI - Finlandia 81
IN - India 70
GB - Regno Unito 61
TR - Turchia 55
HK - Hong Kong 28
NL - Olanda 27
BE - Belgio 26
CA - Canada 24
CH - Svizzera 18
IR - Iran 17
CI - Costa d'Avorio 15
CZ - Repubblica Ceca 14
JP - Giappone 9
KR - Corea 9
ES - Italia 8
EU - Europa 8
VN - Vietnam 8
EE - Estonia 7
PK - Pakistan 6
GR - Grecia 5
BR - Brasile 4
TH - Thailandia 4
AU - Australia 3
MX - Messico 3
NO - Norvegia 3
PH - Filippine 3
PT - Portogallo 3
AT - Austria 2
BO - Bolivia 2
CL - Cile 2
CY - Cipro 2
HR - Croazia 2
IL - Israele 2
MY - Malesia 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
ZA - Sudafrica 2
AF - Afghanistan, Repubblica islamica di 1
AR - Argentina 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
BG - Bulgaria 1
DK - Danimarca 1
DZ - Algeria 1
IQ - Iraq 1
IS - Islanda 1
LK - Sri Lanka 1
LV - Lettonia 1
MD - Moldavia 1
ME - Montenegro 1
PE - Perù 1
RO - Romania 1
RS - Serbia 1
SC - Seychelles 1
SI - Slovenia 1
TN - Tunisia 1
TW - Taiwan 1
Totale 8.350
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Città #
Chandler 608
Ashburn 554
Dublin 372
Warsaw 224
Singapore 199
Beijing 176
Jacksonville 155
Milan 130
Wilmington 129
New York 118
San Mateo 115
Rome 106
Woodbridge 106
Cattolica 104
Nanjing 102
Moscow 98
Fairfield 97
Hangzhou 76
Ann Arbor 73
Boston 64
Seattle 62
Lawrence 61
Redmond 55
Princeton 46
Houston 45
Los Angeles 43
Izmir 42
Boardman 37
Nanchang 37
Redwood City 37
Marseille 32
Cambridge 30
Norwalk 27
Hong Kong 26
Shenyang 24
Zhengzhou 23
University Park 21
Pune 20
Chicago 19
Shanghai 18
Brussels 17
Dearborn 17
Bremen 16
Helsinki 16
Mountain View 16
Abidjan 15
Millbury 15
Kunming 14
Munich 14
Tianjin 14
Falls Church 13
Hebei 13
Jiaxing 13
Nürnberg 13
Zurich 13
Arezzo 12
Naples 12
Andover 11
Brno 11
Busto Arsizio 11
Toronto 11
Kish 10
London 10
Boydton 9
Fremont 9
Simi Valley 9
Tappahannock 9
Washington 9
Augusta 8
Naaldwijk 8
San Diego 8
Changsha 7
Florence 7
Genoa 7
Guangzhou 7
Leawood 7
Tallinn 7
Bologna 6
Detroit 6
Forest City 6
Kansas City 6
Palermo 6
Sandston 6
Turin 6
Waanrode 6
Dong Ket 5
Lancaster 5
Parma 5
Seoul 5
Bangkok 4
Edinburgh 4
Guidonia 4
Indiana 4
Lodz 4
Nijmegen 4
Nuremberg 4
Ottawa 4
Prineville 4
Springfield 4
Trento 4
Totale 4.841
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 384
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 213
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk 199
La Genomica in Sanità Pubblica. Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione. 177
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 143
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 109
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 108
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 108
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 106
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 103
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 99
DNA Methylation in the Diagnosis of Monogenic Diseases. 99
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 93
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 93
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 85
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 85
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 83
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 80
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 79
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. 79
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 78
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 77
The policy of public health genomics in Italy 75
A split hand-split foot (SHFM3) gene is located at 10q24-->25 74
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 72
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients 72
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 71
A PALB2 germline mutation associated with hereditary breast cancer in Italy 70
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. 70
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy 68
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 66
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 66
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. 65
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 64
Efficacy and safety of once-weekly bortezomib in multiple myeloma patients 64
Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias 64
The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment 63
Towards a European consensus for reporting incidental findings during clinical NGS testing 62
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 62
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 62
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database 61
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 60
Lenalidomide, melphalan, prednisone and thalidomide (RMPT) for relapsed/refractory multiple myeloma 60
Workload measurement for molecular genetics laboratory: A survey study. 60
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients 59
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. 59
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 59
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 58
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. 58
Clinical and Genetic Study of a Family With a Paternally Inherited 15q11-q13 Duplication 56
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. 55
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations 55
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis 55
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts 55
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 55
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events 53
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 53
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 53
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 53
INFLUENCE OF TYMS GENE EXPRESSION AND GENOTYPE ON THE CLINICAL OUTCOME OF COLORECTAL CANCER PATIENTS TREATED WITH 5-FLUOROURACIL 52
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 52
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 52
The growing complexity of the intestinal polyposis syndromes. 51
Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16 51
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes 51
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 51
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 50
Melphalan, prednisone, thalidomide and defibrotide in relapsed/refractory multiple myeloma: results of a multicenter phase I/II trial 50
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. 50
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 50
Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012 49
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe 49
Gastrointestinal manifestarions in PTEN hamartoma tumor syndrome. 49
The growing complexity of the intestinal polyposis syndromes 48
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication. 48
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)) 48
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect 48
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians 47
InSiGHT Group. Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization. 47
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 46
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 46
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H(+)-ATPase genes 45
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy 45
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene 44
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity 43
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes 42
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 41
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome 40
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 40
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 40
Planning the Human Variome Project: The Spain Report 40
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 40
The policy of public health genomics in Italy 39
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. 39
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? 39
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies 39
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 38
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 38
Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center 37
Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome 37
Totale 6.818
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Categoria #
all - tutte 50.445
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 50.445
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020612 0 0 38 35 39 42 60 31 69 43 165 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
2024/2025212 105 69 38 0 0 0 0 0 0 0 0 0
Totale 8.616