PAPI, LAURA
 Distribuzione geografica
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Continente #
NA - Nord America 7.914
EU - Europa 6.029
AS - Asia 3.006
SA - Sud America 454
AF - Africa 80
OC - Oceania 61
Continente sconosciuto - Info sul continente non disponibili 2
Totale 17.546
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Nazione #
US - Stati Uniti d'America 7.855
PL - Polonia 2.003
RU - Federazione Russa 1.752
SG - Singapore 885
IT - Italia 708
CN - Cina 688
HK - Hong Kong 548
IE - Irlanda 400
BR - Brasile 370
SE - Svezia 337
KR - Corea 300
DE - Germania 231
VN - Vietnam 213
UA - Ucraina 154
FI - Finlandia 153
IN - India 125
GB - Regno Unito 93
AU - Australia 58
FR - Francia 49
JO - Giordania 42
ID - Indonesia 41
NL - Olanda 36
CA - Canada 35
TR - Turchia 35
AR - Argentina 34
ES - Italia 23
BD - Bangladesh 22
JP - Giappone 21
CH - Svizzera 19
CI - Costa d'Avorio 18
BE - Belgio 17
EC - Ecuador 17
ZA - Sudafrica 17
AT - Austria 15
MX - Messico 14
IQ - Iraq 13
SA - Arabia Saudita 11
EG - Egitto 10
MA - Marocco 10
CZ - Repubblica Ceca 9
IR - Iran 9
UZ - Uzbekistan 9
PY - Paraguay 8
CL - Cile 7
PK - Pakistan 7
AZ - Azerbaigian 6
CO - Colombia 5
KE - Kenya 5
AL - Albania 4
BJ - Benin 4
HR - Croazia 4
LU - Lussemburgo 4
NP - Nepal 4
PE - Perù 4
PH - Filippine 4
SC - Seychelles 4
UY - Uruguay 4
VE - Venezuela 4
AE - Emirati Arabi Uniti 3
GR - Grecia 3
LY - Libia 3
NZ - Nuova Zelanda 3
OM - Oman 3
RO - Romania 3
TT - Trinidad e Tobago 3
CY - Cipro 2
DK - Danimarca 2
GT - Guatemala 2
KZ - Kazakistan 2
LB - Libano 2
LT - Lituania 2
LV - Lettonia 2
MD - Moldavia 2
TH - Thailandia 2
TN - Tunisia 2
AM - Armenia 1
AO - Angola 1
BB - Barbados 1
BO - Bolivia 1
CM - Camerun 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
EU - Europa 1
GH - Ghana 1
HU - Ungheria 1
IL - Israele 1
JM - Giamaica 1
LK - Sri Lanka 1
ME - Montenegro 1
MK - Macedonia 1
MN - Mongolia 1
MU - Mauritius 1
MY - Malesia 1
PA - Panama 1
PS - Palestinian Territory 1
QA - Qatar 1
SN - Senegal 1
SV - El Salvador 1
SX - ???statistics.table.value.countryCode.SX??? 1
Totale 17.543
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Città #
Warsaw 2.001
Santa Clara 1.628
Fairfield 833
Ashburn 730
Singapore 604
Hong Kong 458
Chandler 452
Dublin 400
Woodbridge 381
Seattle 368
Houston 322
Cambridge 321
Seoul 293
Wilmington 279
Jacksonville 223
Beijing 167
Hefei 153
Ann Arbor 140
Lawrence 136
Altamura 132
Florence 130
Princeton 119
Buffalo 100
Munich 88
Los Angeles 87
San Jose 85
Mumbai 76
Moscow 73
Medford 67
Ho Chi Minh City 61
Boardman 60
Boston 56
The Dalles 55
Melbourne 54
Dallas 49
Hanoi 42
Kent 40
Milan 40
New York 40
Shanghai 40
San Diego 36
São Paulo 35
Jakarta 32
Helsinki 29
Turku 29
Dong Ket 28
Clifton 26
Dearborn 25
Falls Church 24
Redondo Beach 23
Rome 22
Paris 21
Tokyo 21
Norwalk 18
Abidjan 17
Bern 16
Chicago 15
Frankfurt am Main 15
Brussels 14
Izmir 14
London 14
Barcelona 13
Lappeenranta 12
Toronto 12
Council Bluffs 11
Denver 11
Phoenix 11
Guangzhou 10
Haiphong 10
Orem 10
Tianjin 10
Andover 9
Campinas 9
Chennai 9
Johannesburg 9
Montreal 9
Tashkent 9
Yubileyny 9
Atlanta 8
Belo Horizonte 8
Curitiba 8
Redmond 8
Redwood City 8
Bengaluru 7
Bremen 7
Brooklyn 7
Cascina 7
Hải Dương 7
Lucca 7
New Delhi 7
Porto Alegre 7
Quito 7
Salerno 7
Stockholm 7
Verona 7
Yalta 7
Auburn Hills 6
Baku 6
Belém 6
Dhaka 6
Totale 12.185
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Nome #
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis 329
A systematic assessment of accuracy in detecting somatic mosaic variants by deep amplicon sequencing: Application to NF2 gene 305
Raccomandazioni cliniche per il carcinoma mammario 304
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 295
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1 271
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 262
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers 242
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. 240
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 231
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 228
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 221
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus 217
A PALB2 germline mutation associated with hereditary breast cancer in Italy. 216
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers 213
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases 212
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 209
Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. 207
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. 205
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection 204
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. 202
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia 201
Broadening the spectrum of SMARCB1-associated malignant tumors: A case of uterine leiomyosarcoma in a patient with schwannomatosis 200
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 196
[Y chromosome abnormalities and azoospermia. Description of 2 cases] 194
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas. 189
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. 188
PREMATURE OVARIAN FAILURE AND FRAGILE X PREMUTATION: A STUDY ON 45 WOMEN 187
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. 186
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency 186
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. 184
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer. 184
Genetic insights into familial tumors of the nervous system. 182
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. 180
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 179
Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin. 178
Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas. 178
Breast cancer: the first comparative evaluation of oncobiome composition between males and females 177
Cytogenetic studies in sporadic and multiple endocrine neoplasia type 1-associated pituitary adenomas. 177
Application of COLD-PCR for improved detection of NF2 mosaic mutations 176
Expanding the mutational spectrum of LZTR1 in schwannomatosis. 175
Update of NGS analysis of Italian survey of second tumors in patients with diagnosis of GIST (gastrointestinal stromal tumor) 173
Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 172
Correlation between cytogenetic data and ganglioside pattern in human meningiomas. 170
The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome 170
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 168
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma 168
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 164
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 163
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. 160
Retrospective analysis of 77 patients with ovarian cancer undergoing genetic testing for BRCA1 and BRCA2 mutations 157
Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR. 156
A kindred with MYH-associated polyposis and pilomatricomas. 154
Germline mutations in MSH2 and ATM gene in patients with GIST (gastrointestinal stromal tumor) and second epitelial tumors 154
Evidence for a human mitotic mutant with pleiotropic effect. 153
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis 152
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 149
Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation. 149
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) 149
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit 148
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. 147
Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene. 141
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 140
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3 140
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. 138
Microsatellite instability in sporadic mucinous colorectal carcinomas: relationship to clinico-pathological variables. 136
Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients 136
Beta endorphin in obese and anorexia nervosa patients 135
Thymidylate synthase and orotate phosphoribosyl-transferase gene expression and genotype as predictors for clinical outcome in colorectal cancer patients treated with 5-fluorouracil 132
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 132
Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner. 131
Expression of epidermal growth factor, transforming growth factor-alpha and their receptor in the human oesophagus. 130
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphysms in primary colorectal cancer patients. 129
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 127
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation 125
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases 125
Genome-wide Association Study Identifies 32 Novel Breast Cancer Susceptibility Loci From Overall and Subtype-Specific Analyses 125
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 119
PALB2 mutations in male breast cancer: a population-based study in Central Italy. 119
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 119
The neurofibromatosis type 2 gene is inactivated in schwannomas. 118
True hermaphroditism: a new case with complex mosaicism. 118
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. 117
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 117
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers 117
Dinucleotide repeat polymorphism at the RBP3 locus in chromosome band 10q11.2. 117
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. 117
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 116
Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis 115
Prognostic significance of microsatellite instability in sporadic mucinous colorectal cancers. 115
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes 115
Alu–Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of PALB2 Inactivation, Predisposing Individuals to Hereditary Breast–Ovarian Cancer Syndrome 114
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 114
Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations 113
Influence of TYMS expression and genotype on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 110
Thymidylate Synthase (TS) mRNA expression and TS gene promoter polymorphism in primary colorectal cancer (CRC) patients (PTS) receiving post-operative fluorouracil (5-FU)-based chemotherapy (CT) 107
Novel neurofibromatosis type 2 mutation presenting with status epilepticus 107
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. 106
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2. 105
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. 105
Duplicated KOX zinc finger gene clusters flank the centromere of human chromosome 10: evidence for a pericentric inversion during primate evolution. 104
Totale 16.532
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Categoria #
all - tutte 47.314
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 47.314
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021660 0 0 0 0 0 0 49 127 120 206 64 94
2021/2022753 33 71 81 20 29 26 38 60 34 31 128 202
2022/20231.928 188 397 80 116 152 327 230 116 199 21 58 44
2023/2024806 21 73 111 46 43 89 37 227 21 43 60 35
2024/20254.835 148 505 323 771 1.409 646 61 237 220 140 194 181
2025/20263.449 603 799 432 502 696 271 146 0 0 0 0 0
Totale 17.741