PAPI, LAURA
 Distribuzione geografica
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Continente #
NA - Nord America 6.157
EU - Europa 5.119
AS - Asia 934
AF - Africa 26
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 1
Totale 12.241
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Nazione #
US - Stati Uniti d'America 6.145
PL - Polonia 1.988
RU - Federazione Russa 1.293
IT - Italia 603
IE - Irlanda 400
SE - Svezia 330
HK - Hong Kong 287
SG - Singapore 256
CN - Cina 194
UA - Ucraina 149
DE - Germania 114
FI - Finlandia 98
IN - India 78
GB - Regno Unito 56
VN - Vietnam 41
JO - Giordania 37
TR - Turchia 20
CI - Costa d'Avorio 17
FR - Francia 17
CH - Svizzera 16
BE - Belgio 14
NL - Olanda 13
CA - Canada 12
KR - Corea 12
ES - Italia 8
IR - Iran 8
AT - Austria 4
LU - Lussemburgo 4
SC - Seychelles 4
CZ - Repubblica Ceca 3
GR - Grecia 3
AU - Australia 2
NZ - Nuova Zelanda 2
RO - Romania 2
CM - Camerun 1
DK - Danimarca 1
EE - Estonia 1
EG - Egitto 1
EU - Europa 1
IL - Israele 1
MA - Marocco 1
MD - Moldavia 1
ME - Montenegro 1
MU - Mauritius 1
UG - Uganda 1
Totale 12.241
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Città #
Warsaw 1.988
Santa Clara 976
Fairfield 833
Chandler 452
Dublin 400
Woodbridge 381
Ashburn 371
Seattle 365
Cambridge 321
Houston 318
Wilmington 277
Jacksonville 223
Singapore 212
Hong Kong 198
Ann Arbor 140
Lawrence 136
Altamura 132
Princeton 119
Florence 105
Mumbai 69
Beijing 67
Medford 67
Boardman 58
Boston 52
Moscow 52
Buffalo 38
Shanghai 38
San Diego 36
Milan 32
Dong Ket 28
Kent 26
Dearborn 25
Falls Church 24
Norwalk 18
Abidjan 17
Los Angeles 17
Bern 16
Rome 14
Izmir 13
New York 13
Helsinki 12
Brussels 11
Seoul 11
Toronto 11
Andover 9
Yubileyny 9
Barcelona 8
Redmond 8
Redwood City 8
Bremen 7
Phoenix 7
Salerno 7
Verona 7
Yalta 7
Auburn Hills 6
Chicago 6
Frankfurt Am Main 6
Hillsboro 6
London 6
Fiesole 5
Guangzhou 5
Hefei 5
San Mateo 5
Bologna 4
Chions 4
Dudelange 4
Lappeenranta 4
Laurel 4
Lucca 4
Portoferraio 4
Pune 4
Siena 4
Tappahannock 4
Viareggio 4
West Jordan 4
Erba 3
Kansas City 3
Kunming 3
Monsummano Terme 3
Munich 3
Naples 3
Paris 3
Siracusa 3
Stagno 3
Tehran 3
Trieste 3
Venezia 3
Vienna 3
Wuhan 3
Acton 2
Anguillara Sabazia 2
Arezzo 2
Arzano 2
Athens 2
Brescia 2
Brno 2
Calcinaia 2
Campobasso 2
Cascina 2
Chengdu 2
Totale 8.951
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Nome #
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis 277
Raccomandazioni cliniche per il carcinoma mammario 260
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1 253
A systematic assessment of accuracy in detecting somatic mosaic variants by deep amplicon sequencing: Application to NF2 gene 248
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 237
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor 229
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. 217
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers 199
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 192
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers 187
Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16 184
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. 183
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. 183
Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus 183
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia 183
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis. 171
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification 166
A PALB2 germline mutation associated with hereditary breast cancer in Italy. 165
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. 155
Broadening the spectrum of SMARCB1-associated malignant tumors: A case of uterine leiomyosarcoma in a patient with schwannomatosis 155
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. 145
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 143
PREMATURE OVARIAN FAILURE AND FRAGILE X PREMUTATION: A STUDY ON 45 WOMEN 140
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. 136
Genetic insights into familial tumors of the nervous system. 132
A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer. 132
Expanding the mutational spectrum of LZTR1 in schwannomatosis. 132
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants 132
Correlation between cytogenetic data and ganglioside pattern in human meningiomas. 128
Cytogenetic studies in sporadic and multiple endocrine neoplasia type 1-associated pituitary adenomas. 128
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection 128
Application of COLD-PCR for improved detection of NF2 mosaic mutations 127
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. 127
Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation. 126
Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin. 125
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. 125
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. 123
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency 123
Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas. 121
Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation 121
The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome 121
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 119
Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas. 118
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma 115
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. 113
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. 113
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. 112
Identification of six new susceptibility loci for invasive epithelial ovarian cancer. 110
Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR. 109
[Y chromosome abnormalities and azoospermia. Description of 2 cases] 109
A kindred with MYH-associated polyposis and pilomatricomas. 108
Evidence for a human mitotic mutant with pleiotropic effect. 108
Update of NGS analysis of Italian survey of second tumors in patients with diagnosis of GIST (gastrointestinal stromal tumor) 107
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. 106
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 11q22.3 103
Microsatellite instability in sporadic mucinous colorectal carcinomas: relationship to clinico-pathological variables. 100
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. 100
Retrospective analysis of 77 patients with ovarian cancer undergoing genetic testing for BRCA1 and BRCA2 mutations 100
The neurofibromatosis type 2 gene is inactivated in schwannomas. 99
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis 99
Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. 98
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 98
Dinucleotide repeat polymorphism at the RBP3 locus in chromosome band 10q11.2. 97
Germline mutations in MSH2 and ATM gene in patients with GIST (gastrointestinal stromal tumor) and second epitelial tumors 97
Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene. 96
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 95
Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner. 90
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. 90
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. 89
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. 89
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 89
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2. 88
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers 87
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit 87
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 86
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. 85
Beta endorphin in obese and anorexia nervosa patients 83
Duplicated KOX zinc finger gene clusters flank the centromere of human chromosome 10: evidence for a pericentric inversion during primate evolution. 83
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. 83
PALB2 mutations in male breast cancer: a population-based study in Central Italy. 83
Creation of an international registry to support discovery in schwannomatosis 83
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases 82
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases 81
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphysms in primary colorectal cancer patients. 80
Novel neurofibromatosis type 2 mutation presenting with status epilepticus 79
Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations 79
Genome-wide Association Study Identifies 32 Novel Breast Cancer Susceptibility Loci From Overall and Subtype-Specific Analyses 79
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes 77
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers. 77
True hermaphroditism: a new case with complex mosaicism. 76
Prognostic significance of microsatellite instability in sporadic mucinous colorectal cancers. 75
Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients 74
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 73
Expression of epidermal growth factor, transforming growth factor-alpha and their receptor in the human oesophagus. 73
A new polymorphism in the ret protooncogene (RET). 71
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) 71
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) 69
Influence of TYMS expression and genotype on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 64
High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH. 59
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. 57
Totale 12.062
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Categoria #
all - tutte 32.425
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 32.425
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.652 0 0 0 0 252 284 260 280 224 127 195 30
2020/20211.350 136 115 106 154 54 125 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
2024/20252.967 148 505 323 771 1.220 0 0 0 0 0 0 0
Totale 12.424