IRIS
PASTORINO, LORENZA
 Distribuzione geografica
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Continente #
EU - Europa 9.174
Totale 9.174
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Nazione #
IT - Italia 9.174
Totale 9.174
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Città #
Genova 7.156
Rapallo 1.157
Genoa 833
Bordighera 28
Totale 9.174
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Nome #
Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry 168
Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. 153
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup 141
MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: A pooled-analysis from the M-SKIP project. 139
BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies. 136
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 132
Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. 132
A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer 132
CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients 131
Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. 130
CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. 128
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148 127
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma 126
Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLDmutation in Brenner tumor 126
Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project 125
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families. 125
Gly101Trp germline mutation in the CDKN2A gene in familial and non familial Ligurian melanoma patients 124
Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: Interplay between germline and somatic variations 124
Genome-wide association study identifies three new melanoma susceptibility loci 124
Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome 123
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome. 122
Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. 118
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients. 117
Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma 116
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study 115
Clinical genetic testing for familial melanoma in Italy: a cooperative study. 114
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 114
Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report. 113
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes 111
Novel MC1R variants in Ligurian melanoma patients and controls 106
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma 104
CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment 103
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL) 103
The CDKN2A/p16INK4a 5'UTR sequence and translational regulation: Impact of novel variants predisposing to melanoma 101
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma. 100
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 97
High prevalence of the G101W germline mutation in the CDKN2A (P16INK4A) gene in 62 Italian malignant melanoma families 97
Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective. 96
INK4/ARF germline alterations in pancreatic cancer patients 96
Functional analysis of a CDKN2A 5’UTR germline variant associated with pancreatic cancer development 95
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma 95
Ink4/ARF germline mutations and additional neoplasia in pancretic cancer patients and their families 94
Unicystic ameloblastoma associated with the novel K729M PTCH1 mutation in a patient with nevoid basal cell carcinoma (Gorlin) syndrome. 94
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide 93
Hereditary trichilemmal cysts: A proposal for the assessment of diagnostic clinical criteria 92
PTCH1 germline mutations and the basaloid follicular hamartoma values in the tumor spectrum of basal cell carcinoma syndrome (NBCCS) 90
The role of AIRE polymorphisms in melanoma. 88
CDKN2A germline mutation analysis in patients with pancreatic adenocarcinoma 87
CDKN2A germline mutation analysis in patients with pancreatic adenocarcinoma from Liguria 86
MC1R gene variants and non-melanoma skin cancer: A pooled-analysis from the M-SKIP project 86
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma 86
Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations 86
ANALISI GENOME-WIDE PER LA SUSCETTIBILITÀ AL MELANOMA: NUOVI LOCICHE CONFERMANO IL RUOLO DEI GENI DELLA PIGMENTAZIONE 85
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
Diagnostic and pathogenetic role of cafe-au-lait macules in nevoid basal cell carcinoma syndrome 85
"Gestione Melanoma" un "database" relazionale per lo studio e l’approfondimento della relazione genotipo/fenotipo e genotipo/ambiente nel melanoma familiare e sporadico 84
MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: A pooled analysis from the M-SKIP project 84
3’UTR polymorphisms in the CDKN2A gene and age at onset of familial and sporadic melanoma 82
MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients. 82
Absence of high risk gene mutations in hereditary melanoma points to the interplay between somatic and low risk germline variants 82
Analisi molecolare del gene PTCH nella Sindrome di Gorlin (Carcinoma Nevo Basocellulare NBCCS) 81
A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome 81
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 81
Identification of a SUFU germline mutation in a family with Gorlin syndrome 80
Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin 80
Coping with formalin banning in pathology: under vacuum long-term tissue storage with no added formalin 80
Clinical utility gene card for: Gorlin syndrome 80
Varianti polimorfiche del gene MC1R (melanocortin receptor 1): Analisi in pazienti Liguri affetti da melanoma e negativi per mutazioni nei geni CDKN2A e CDK4 77
Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas 77
Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci. 77
MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort 75
Frequency of 3’UTR polymorphisms in the CDKN2A gene in familial and non-familial Ligurian melanoma patients 74
Features associated with germline CDKN2A mutations: A GenoMEL study of melanoma-prone families from three continents 74
Predicting the risk of pancreatic cancer: on CDKN2A mutations in the melanoma-pancreatic cancer syndrome in Italy 72
Erratum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma (Nature (2011) 480:94-98 doi:10.1038/nature10539) 72
CDKN2A mutation distribution in ligurian sporadic melanoma according to age at diagnosis 71
INK4/ARF germline mutations and additional neoplasia in pancreatic cancer patients and their families 69
3’UTR polymorphisms in the CDKN2A gene and age at onset of familial and sporadic melanoma from Liguria 66
Correlation between NF-kB/GM-CSF expression and functional status of the p16 melanoma susceptibility gene 65
Proteomic analysis of PTCH1 +/- Fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients 65
Correlazione tra l’espressione di NF-KB e lo stato funzionale del gene di suscettibilità al melanoma familiare CDKN2A (p16ink4) 63
Analisi della sequenza codificante e regolatrice del gene di suscettibilità al melanoma CDKN2A in 62 famiglie 63
Analisi di mutazioni del gene PTCH nella sindrome di Gorlin 63
Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients 63
Absence of melanocortin 1 receptor variants in Ligurian Gly101trp families 61
Multiple primary melanoma (MPM) as a valid criterion for genetic assessment : an Italian IMI multi-center study 61
Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. 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
Clinical utility gene card for: Gorlin syndrome - Update 2013 60
Insights into genetic susceptibility to melanoma by gene panel testing: Potential pathogenic variants in acd, atm, bap1, and pot1 60
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants 60
Germline mutations of the PTCH gene in Italian patients with Nevoid Basal Cell Carcinoma Syndrome 58
Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI) 57
Prevalence of CDKN2A gene mutations in patients with early-onset sporadic melanoma 54
Inverse correlation between p16INK4A expression and NF-kappaB activation in melanoma progression 50
Prevalenza della mutazione germinale G101W nel gene CDKN2A in pazienti liguri con melanoma sporadico 46
Molecular characterisation of Italian Nevoid Basal Cell Carcinoma Syndrome patients 45
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia 42
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 40
Melanoma Familiare: Il contributo di geni di suscettibilità ad alta e bassa penetranza 38
Totale 9.132
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Categoria #
all - tutte 27.689
article - articoli 23.658
book - libri 0
conference - conferenze 3.937
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 94
Totale 55.378
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019406 0 0 0 0 0 0 0 0 0 0 228 178
2019/20202.719 110 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
2023/2024629 27 96 9 95 48 136 52 57 71 38 0 0
Totale 9.440