IRIS
PASTORINO, LORENZA
 Distribuzione geografica
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Continente #
EU - Europa 9.509
Totale 9.509
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Nazione #
IT - Italia 9.509
Totale 9.509
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Città #
Genova 7.156
Rapallo 1.157
Genoa 1.121
Vado Ligure 47
Bordighera 28
Totale 9.509
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Nome #
Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry 171
Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. 154
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup 143
BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies. 140
A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer 140
MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: A pooled-analysis from the M-SKIP project. 140
Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. 139
CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients 138
Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. 134
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 133
CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. 132
Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project 131
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families. 131
Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLDmutation in Brenner tumor 131
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma 130
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148 129
Gly101Trp germline mutation in the CDKN2A gene in familial and non familial Ligurian melanoma patients 128
Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: Interplay between germline and somatic variations 128
Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome 127
Genome-wide association study identifies three new melanoma susceptibility loci 125
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome. 124
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study 123
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients. 120
Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. 119
Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma 119
Clinical genetic testing for familial melanoma in Italy: a cooperative study. 117
Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report. 114
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 114
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes 113
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL) 109
Novel MC1R variants in Ligurian melanoma patients and controls 107
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma 105
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 104
CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment 103
The CDKN2A/p16INK4a 5'UTR sequence and translational regulation: Impact of novel variants predisposing to melanoma 103
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma. 103
Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective. 98
High prevalence of the G101W germline mutation in the CDKN2A (P16INK4A) gene in 62 Italian malignant melanoma families 98
Functional analysis of a CDKN2A 5’UTR germline variant associated with pancreatic cancer development 97
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma 97
Ink4/ARF germline mutations and additional neoplasia in pancretic cancer patients and their families 96
INK4/ARF germline alterations in pancreatic cancer patients 96
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide 96
Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome. 94
CDKN2A germline mutation analysis in patients with pancreatic adenocarcinoma 93
Hereditary trichilemmal cysts: A proposal for the assessment of diagnostic clinical criteria 93
CDKN2A germline mutation analysis in patients with pancreatic adenocarcinoma from Liguria 90
PTCH1 germline mutations and the basaloid follicular hamartoma values in the tumor spectrum of basal cell carcinoma syndrome (NBCCS) 90
ANALISI GENOME-WIDE PER LA SUSCETTIBILITÀ AL MELANOMA: NUOVI LOCICHE CONFERMANO IL RUOLO DEI GENI DELLA PIGMENTAZIONE 89
The role of AIRE polymorphisms in melanoma. 89
"Gestione Melanoma" un "database" relazionale per lo studio e l’approfondimento della relazione genotipo/fenotipo e genotipo/ambiente nel melanoma familiare e sporadico 88
3’UTR polymorphisms in the CDKN2A gene and age at onset of familial and sporadic melanoma 88
Absence of high risk gene mutations in hereditary melanoma points to the interplay between somatic and low risk germline variants 88
MC1R gene variants and non-melanoma skin cancer: A pooled-analysis from the M-SKIP project 88
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma 87
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations 87
Analisi molecolare del gene PTCH nella Sindrome di Gorlin (Carcinoma Nevo Basocellulare NBCCS) 86
MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients. 86
MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: A pooled analysis from the M-SKIP project 86
Diagnostic and pathogenetic role of cafe-au-lait macules in nevoid basal cell carcinoma syndrome 86
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations 85
Correction: Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: Interplay between germline and somatic variations [Oncotarget. 2018; 9:5691-5702]doi 10.18632/oncotarget.23204 85
A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome 84
Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci. 83
Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin 82
Identification of a SUFU germline mutation in a family with Gorlin syndrome 81
Coping with formalin banning in pathology: under vacuum long-term tissue storage with no added formalin 81
Clinical utility gene card for: Gorlin syndrome 81
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas 79
Varianti polimorfiche del gene MC1R (melanocortin receptor 1): Analisi in pazienti Liguri affetti da melanoma e negativi per mutazioni nei geni CDKN2A e CDK4 78
Frequency of 3’UTR polymorphisms in the CDKN2A gene in familial and non-familial Ligurian melanoma patients 77
MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort 76
Features associated with germline CDKN2A mutations: A GenoMEL study of melanoma-prone families from three continents 75
CDKN2A mutation distribution in ligurian sporadic melanoma according to age at diagnosis 74
Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy 73
3’UTR polymorphisms in the CDKN2A gene and age at onset of familial and sporadic melanoma from Liguria 73
Erratum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma (Nature (2011) 480:94-98 doi:10.1038/nature10539) 72
Analisi di mutazioni del gene PTCH nella sindrome di Gorlin 70
INK4/ARF germline mutations and additional neoplasia in pancreatic cancer patients and their families 69
Correlation between NF-kB/GM-CSF expression and functional status of the p16 melanoma susceptibility gene 68
Analisi della sequenza codificante e regolatrice del gene di suscettibilità al melanoma CDKN2A in 62 famiglie 67
Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients 67
Proteomic analysis of PTCH1 +/- Fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients 66
Correlazione tra l’espressione di NF-KB e lo stato funzionale del gene di suscettibilità al melanoma familiare CDKN2A (p16ink4) 65
Absence of melanocortin 1 receptor variants in Ligurian Gly101trp families 65
Insights into genetic susceptibility to melanoma by gene panel testing: Potential pathogenic variants in acd, atm, bap1, and pot1 64
Multiple primary melanoma (MPM) as a valid criterion for genetic assessment : an Italian IMI multi-center study 62
Germline mutations of the PTCH gene in Italian patients with Nevoid Basal Cell Carcinoma Syndrome 61
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. 61
Clinical utility gene card for: Gorlin syndrome - Update 2013 61
Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: Sphenoid asymmetry in a patient with a novel PTCH1 mutation 60
Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI) 60
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants 60
Prevalence of CDKN2A gene mutations in patients with early-onset sporadic melanoma 59
Inverse correlation between p16INK4A expression and NF-kappaB activation in melanoma progression 52
Prevalenza della mutazione germinale G101W nel gene CDKN2A in pazienti liguri con melanoma sporadico 49
Molecular characterisation of Italian Nevoid Basal Cell Carcinoma Syndrome patients 46
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia 44
Beta-catenin and survivin expression in keratocystic odontogenic tumor (KCOT). A comparative immunohistochemical study in primary, recurrent and nevoid basal cell carcinoma syndrome (NBCCS)-associated lesions 43
Mutazioni germinali al locus INK4/ARF in pazienti affetti da adenocarcinoma pancreatico in relazione alla storia oncologica familiare 42
Totale 9.407
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Categoria #
all - tutte 31.140
article - articoli 26.485
book - libri 0
conference - conferenze 4.532
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 123
Totale 62.280
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.609 0 58 116 197 266 302 434 188 250 432 289 77
2020/2021831 54 76 95 55 54 53 55 74 78 103 69 65
2021/20221.312 30 103 83 178 53 85 94 308 70 111 50 147
2022/20231.407 154 117 11 156 260 196 10 97 204 12 169 21
2023/2024836 27 96 9 95 48 136 50 57 71 38 55 154
2024/2025131 97 34 0 0 0 0 0 0 0 0 0 0
Totale 9.778