PAPI, LAURA
 Distribuzione geografica
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Continente #
NA - Nord America 8.919
EU - Europa 6.919
AS - Asia 3.703
SA - Sud America 502
Continente sconosciuto - Info sul continente non disponibili 200
AF - Africa 103
OC - Oceania 61
Totale 20.407
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Nazione #
US - Stati Uniti d'America 8.789
PL - Polonia 2.005
RU - Federazione Russa 1.752
IT - Italia 1.417
SG - Singapore 1.017
CN - Cina 834
HK - Hong Kong 558
VN - Vietnam 470
IE - Irlanda 400
BR - Brasile 396
SE - Svezia 337
KR - Corea 301
DE - Germania 242
FI - Finlandia 170
FR - Francia 159
UA - Ucraina 155
IN - India 136
GB - Regno Unito 112
BD - Bangladesh 88
CA - Canada 79
AU - Australia 58
JO - Giordania 44
JP - Giappone 44
AR - Argentina 42
ID - Indonesia 42
NL - Olanda 42
TR - Turchia 42
ES - Italia 25
IQ - Iraq 22
CH - Svizzera 20
CI - Costa d'Avorio 19
EC - Ecuador 19
MX - Messico 18
ZA - Sudafrica 18
BE - Belgio 17
AT - Austria 16
PK - Pakistan 12
SA - Arabia Saudita 12
EG - Egitto 11
NG - Nigeria 11
AE - Emirati Arabi Uniti 10
CZ - Repubblica Ceca 10
MA - Marocco 10
UZ - Uzbekistan 10
CL - Cile 9
CO - Colombia 9
IR - Iran 9
PY - Paraguay 9
CR - Costa Rica 8
PH - Filippine 8
KE - Kenya 7
VE - Venezuela 7
AZ - Azerbaigian 6
HR - Croazia 5
JM - Giamaica 5
LV - Lettonia 5
MY - Malesia 5
NP - Nepal 5
PE - Perù 5
UY - Uruguay 5
AL - Albania 4
BJ - Benin 4
LU - Lussemburgo 4
OM - Oman 4
RO - Romania 4
SC - Seychelles 4
TH - Thailandia 4
TT - Trinidad e Tobago 4
DK - Danimarca 3
DZ - Algeria 3
GR - Grecia 3
GT - Guatemala 3
HN - Honduras 3
KZ - Kazakistan 3
LT - Lituania 3
LY - Libia 3
MD - Moldavia 3
NZ - Nuova Zelanda 3
TN - Tunisia 3
BB - Barbados 2
CY - Cipro 2
LB - Libano 2
ML - Mali 2
MN - Mongolia 2
PS - Palestinian Territory 2
QA - Qatar 2
SN - Senegal 2
SV - El Salvador 2
SY - Repubblica araba siriana 2
TW - Taiwan 2
AM - Armenia 1
AO - Angola 1
BG - Bulgaria 1
BO - Bolivia 1
CM - Camerun 1
DO - Repubblica Dominicana 1
EE - Estonia 1
ET - Etiopia 1
EU - Europa 1
GH - Ghana 1
Totale 20.195
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Città #
Warsaw 2.003
Santa Clara 1.639
Ashburn 1.089
Fairfield 833
Singapore 729
Hong Kong 465
Chandler 452
Dublin 400
Woodbridge 382
Seattle 369
Houston 324
Cambridge 321
Seoul 293
Wilmington 279
Milan 278
San Jose 234
Jacksonville 224
Beijing 167
Hefei 153
Ho Chi Minh City 152
Florence 141
Ann Arbor 140
Lawrence 136
Altamura 132
Princeton 119
The Dalles 119
Buffalo 106
Lauterbourg 105
Hanoi 102
Los Angeles 101
Rome 101
Munich 88
Mumbai 79
Moscow 73
New York 68
Medford 67
Boardman 65
Boston 56
Council Bluffs 54
Dallas 54
Melbourne 54
Shanghai 46
Helsinki 44
Tokyo 41
Kent 40
São Paulo 38
San Diego 37
Jakarta 32
Naples 29
Turku 29
Dong Ket 28
Clifton 26
Dearborn 25
Bologna 24
Falls Church 24
Frankfurt am Main 23
Paris 23
Redondo Beach 23
Haiphong 21
Turin 20
Toronto 19
Abidjan 18
Norwalk 18
Chicago 17
Guangzhou 17
London 17
Phoenix 17
Bern 16
Da Nang 16
Orem 16
Montreal 15
Palermo 15
Brussels 14
Izmir 14
Lappeenranta 14
Verona 14
Barcelona 13
Denver 13
Figino 12
Hải Dương 12
Tianjin 12
Bari 11
Brooklyn 11
Chennai 11
Abuja 10
Ankara 10
Atlanta 10
Miano 10
Andover 9
Brescia 9
Campinas 9
Genoa 9
Johannesburg 9
Salerno 9
Tashkent 9
Yubileyny 9
Belo Horizonte 8
Cagliari 8
Curitiba 8
Manchester 8
Totale 13.815
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Nome #
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis 364
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 331
A systematic assessment of accuracy in detecting somatic mosaic variants by deep amplicon sequencing: Application to NF2 gene 325
Raccomandazioni cliniche per il carcinoma mammario 323
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1 300
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 291
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers 270
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. 265
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases 256
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 256
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. 253
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 251
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 249
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 241
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus 239
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers 236
A PALB2 germline mutation associated with hereditary breast cancer in Italy. 233
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection 232
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. 231
[Y chromosome abnormalities and azoospermia. Description of 2 cases] 230
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. 223
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. 222
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia 221
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 219
Broadening the spectrum of SMARCB1-associated malignant tumors: A case of uterine leiomyosarcoma in a patient with schwannomatosis 217
PREMATURE OVARIAN FAILURE AND FRAGILE X PREMUTATION: A STUDY ON 45 WOMEN 209
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency 209
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. 208
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas. 207
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. 205
Genetic insights into familial tumors of the nervous system. 204
Breast cancer: the first comparative evaluation of oncobiome composition between males and females 203
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer. 199
Update of NGS analysis of Italian survey of second tumors in patients with diagnosis of GIST (gastrointestinal stromal tumor) 199
Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin. 198
Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas. 198
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 198
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. 197
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 195
The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome 195
Application of COLD-PCR for improved detection of NF2 mosaic mutations 194
Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 191
Expanding the mutational spectrum of LZTR1 in schwannomatosis. 190
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma 188
Cytogenetic studies in sporadic and multiple endocrine neoplasia type 1-associated pituitary adenomas. 186
Correlation between cytogenetic data and ganglioside pattern in human meningiomas. 185
A kindred with MYH-associated polyposis and pilomatricomas. 185
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 183
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) 183
Retrospective analysis of 77 patients with ovarian cancer undergoing genetic testing for BRCA1 and BRCA2 mutations 182
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 179
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 178
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 178
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit 178
Germline mutations in MSH2 and ATM gene in patients with GIST (gastrointestinal stromal tumor) and second epitelial tumors 178
Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR. 176
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. 175
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis 173
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. 170
Evidence for a human mitotic mutant with pleiotropic effect. 169
Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation. 169
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 11q22.3 166
Microsatellite instability in sporadic mucinous colorectal carcinomas: relationship to clinico-pathological variables. 159
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 158
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 157
Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene. 157
Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients 154
Expression of epidermal growth factor, transforming growth factor-alpha and their receptor in the human oesophagus. 153
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation 152
Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis 152
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. 152
Alu–Mediated Duplication and Deletion of Exon 11 Are Frequent Mechanisms of PALB2 Inactivation, Predisposing Individuals to Hereditary Breast–Ovarian Cancer Syndrome 149
Beta endorphin in obese and anorexia nervosa patients 149
Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner. 149
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases 148
Genome-wide Association Study Identifies 32 Novel Breast Cancer Susceptibility Loci From Overall and Subtype-Specific Analyses 148
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphysms in primary colorectal cancer patients. 145
Thymidylate synthase and orotate phosphoribosyl-transferase gene expression and genotype as predictors for clinical outcome in colorectal cancer patients treated with 5-fluorouracil 144
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 143
True hermaphroditism: a new case with complex mosaicism. 143
Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations 143
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers 140
PALB2 mutations in male breast cancer: a population-based study in Central Italy. 140
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. 138
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 138
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. 137
Dinucleotide repeat polymorphism at the RBP3 locus in chromosome band 10q11.2. 133
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 132
Prognostic significance of microsatellite instability in sporadic mucinous colorectal cancers. 132
Duplicated KOX zinc finger gene clusters flank the centromere of human chromosome 10: evidence for a pericentric inversion during primate evolution. 131
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 131
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes 131
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. 130
Influence of TYMS expression and genotype on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 129
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 128
The neurofibromatosis type 2 gene is inactivated in schwannomas. 128
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 128
Novel neurofibromatosis type 2 mutation presenting with status epilepticus 127
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis 126
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. 125
Totale 18.817
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Categoria #
all - tutte 54.728
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 54.728
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20265.919 603 799 432 502 696 271 717 271 325 339 203 761
2026/2027196 196 0 0 0 0 0 0 0 0 0 0 0
Totale 20.407