IRIS PubliCatt

Genuardi, Maurizio
 Distribuzione geografica
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Continente #
EU - Europa 3.815
NA - Nord America 3.607
AS - Asia 1.699
SA - Sud America 27
AF - Africa 24
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 8
Totale 9.188
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Nazione #
US - Stati Uniti d'America 3.575
SE - Svezia 1.019
IT - Italia 775
CN - Cina 764
DE - Germania 493
SG - Singapore 452
IE - Irlanda 373
UA - Ucraina 290
PL - Polonia 238
ID - Indonesia 236
FR - Francia 190
RU - Federazione Russa 128
FI - Finlandia 96
IN - India 76
GB - Regno Unito 67
TR - Turchia 57
NL - Olanda 35
HK - Hong Kong 30
CA - Canada 28
BE - Belgio 27
BR - Brasile 19
CH - Svizzera 18
IR - Iran 17
CI - Costa d'Avorio 15
CZ - Repubblica Ceca 15
ES - Italia 12
JP - Giappone 11
KR - Corea 9
VN - Vietnam 9
EU - Europa 8
PK - Pakistan 8
EE - Estonia 7
AE - Emirati Arabi Uniti 6
GR - Grecia 6
AU - Australia 5
TH - Thailandia 5
AR - Argentina 3
BD - Bangladesh 3
IL - Israele 3
MX - Messico 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
PH - Filippine 3
PT - Portogallo 3
ZA - Sudafrica 3
AT - Austria 2
BO - Bolivia 2
CL - Cile 2
CY - Cipro 2
DK - Danimarca 2
HR - Croazia 2
LK - Sri Lanka 2
LV - Lettonia 2
MD - Moldavia 2
MY - Malesia 2
NG - Nigeria 2
AF - Afghanistan, Repubblica islamica di 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
CR - Costa Rica 1
DZ - Algeria 1
IQ - Iraq 1
IS - Islanda 1
LT - Lituania 1
LU - Lussemburgo 1
ME - Montenegro 1
PE - Perù 1
RO - Romania 1
RS - Serbia 1
SC - Seychelles 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
TN - Tunisia 1
TW - Taiwan 1
TZ - Tanzania 1
Totale 9.188
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Città #
Chandler 608
Ashburn 559
Dublin 372
Singapore 345
Jakarta 235
Warsaw 224
Beijing 180
Jacksonville 155
Milan 139
Wilmington 129
New York 119
Rome 118
San Mateo 115
Woodbridge 106
Cattolica 104
Nanjing 104
Moscow 98
Fairfield 97
Hangzhou 76
Ann Arbor 73
Boston 64
Seattle 62
Lawrence 61
Redmond 55
Princeton 46
Houston 45
Los Angeles 45
Izmir 42
Boardman 37
Nanchang 37
Redwood City 37
Marseille 32
Shanghai 32
Cambridge 30
Helsinki 30
Hong Kong 27
Norwalk 27
Zhengzhou 27
Shenyang 26
Munich 24
Pune 22
University Park 21
Chicago 19
Brussels 18
Dearborn 17
Santa Clara 17
Tianjin 17
Bremen 16
Mountain View 16
Abidjan 15
Kunming 15
Millbury 15
Toronto 15
Falls Church 13
Hebei 13
Jiaxing 13
Nürnberg 13
Zurich 13
Arezzo 12
Naples 12
Andover 11
Brno 11
Busto Arsizio 11
London 11
Boydton 10
Guangzhou 10
Kish 10
Fremont 9
Genoa 9
Simi Valley 9
Tappahannock 9
Washington 9
Augusta 8
Naaldwijk 8
San Diego 8
Changsha 7
Florence 7
Kansas City 7
Leawood 7
Parma 7
Tallinn 7
Bologna 6
Detroit 6
Forest City 6
Palermo 6
Sandston 6
Turin 6
Waanrode 6
Dong Ket 5
Falkenstein 5
Lancaster 5
Madrid 5
Mumbai 5
Padova 5
Seoul 5
Venice 5
Bangkok 4
Cesena 4
Chennai 4
Edinburgh 4
Totale 5.337
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Nome #
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 389
Deregulated expression of the imprinted DLK1-DIO3 region in Glioblastoma Stem-like Cells: tumor suppressor role of lncRNA MEG3 218
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk 202
La Genomica in Sanità Pubblica. Sintesi delle evidenze e delle conoscenze disponibili sull’utilizzo della genomica ai fini della prevenzione. 183
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report 151
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene 115
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
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers 112
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 112
Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition. 110
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization 110
DNA Methylation in the Diagnosis of Monogenic Diseases. 105
Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature 102
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. 95
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. 89
Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes. 88
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death 84
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis. 83
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. 83
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation 81
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study 80
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis. 80
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis 79
Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients 79
A split hand-split foot (SHFM3) gene is located at 10q24-->25 78
The policy of public health genomics in Italy 78
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families 75
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 73
Melanocytic nevi in RASopathies: insights on dermatological diagnostic handles 72
A PALB2 germline mutation associated with hereditary breast cancer in Italy 71
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. 71
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy 70
Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias 70
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use 70
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. 69
Towards a European consensus for reporting incidental findings during clinical NGS testing 68
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach 67
Workload measurement for molecular genetics laboratory: A survey study. 66
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor 65
Efficacy and safety of once-weekly bortezomib in multiple myeloma patients 65
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database 65
The current practice of lynch syndrome diagnosis and management in Italy: A qualitative assessment 65
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. 64
Prognostic relevance of MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer patients 63
Lenalidomide, melphalan, prednisone and thalidomide (RMPT) for relapsed/refractory multiple myeloma 63
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. 63
Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis 63
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families 62
Encomium: Giovanni Neri--polyhedral and down-to-earth mentor. 61
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making 61
Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dube syndrome ascertained for non-cutaneous manifestations 60
Clinical and Genetic Study of a Family With a Paternally Inherited 15q11-q13 Duplication 60
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 60
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts 58
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. 58
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: A case report 58
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe 58
MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis 57
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians. 56
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes 56
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 56
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis 56
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events 55
Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16 55
INFLUENCE OF TYMS GENE EXPRESSION AND GENOTYPE ON THE CLINICAL OUTCOME OF COLORECTAL CANCER PATIENTS TREATED WITH 5-FLUOROURACIL 55
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 55
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication. 54
The growing complexity of the intestinal polyposis syndromes. 52
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. 52
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 52
The growing complexity of the intestinal polyposis syndromes 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 51
Melphalan, prednisone, thalidomide and defibrotide in relapsed/refractory multiple myeloma: results of a multicenter phase I/II trial 51
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)) 51
Gastrointestinal manifestarions in PTEN hamartoma tumor syndrome. 51
Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012 50
InSiGHT Group. Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization. 50
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 50
Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians 49
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H(+)-ATPase genes 49
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect 49
Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy 49
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype 48
Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 48
High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene 46
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition? 46
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup 45
Integrating a Comprehensive Cancer Genome Profiling into Clinical Practice: A Blueprint in an Italian Referral Center 45
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity 45
Telomerase activity in human hematopoietic progenitor cells 45
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies 45
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes 45
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 44
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome 43
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 43
Planning the Human Variome Project: The Spain Report 42
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. 41
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 41
Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? 41
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 40
Totale 7.219
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Categoria #
all - tutte 57.698
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 57.698
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020500 0 0 0 0 0 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
2024/20251.050 105 69 324 163 237 152 0 0 0 0 0 0
Totale 9.454