GHIORZO, PAOLA
 Distribuzione geografica
Continente #
EU - Europa 15.727
Totale 15.727
Nazione #
IT - Italia 15.727
Totale 15.727
Città #
Genova 12.035
Rapallo 1.927
Genoa 1.718
Bordighera 47
Totale 15.727
Nome #
Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry 170
Pathway-based analysis of a melanoma genome-wide association study: analysis of genes related to tumour-immunosuppression. 154
Incidence of other neoplasia in Italian melanoma-prone families with p16 (GLy93Trp) mutation 151
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup 143
An upstream positive regulatory element in human GM-CSF promoter is recognized by NF-kB/Rel family members 142
MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: A pooled-analysis from the M-SKIP project. 140
The effect on melanoma risk of genes previously associated with telomere length. 139
BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies. 139
c-Rel and p65 subunits bind to an upstream NF-kB site in human granulocyte macrophage-colony stimulating factor promoter involved in phorbol ester response in 5637 cells 138
Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. 138
A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer 138
PCCR: Pancreatic Cancer Collaborative Registry. 138
CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients 136
Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene 135
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 133
Anti-inflammatory effects of leflunomide on cultured synovial macrophages from patients with rheumatoid arthritis. 132
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
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
CDKN2A is the main susceptibility gene in Italian pancreatic cancer families. 130
Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148 129
Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: Interplay between germline and somatic variations 128
Gly101Trp germline mutation in the CDKN2A gene in familial and non familial Ligurian melanoma patients 127
Identification, genetic testing, and management of hereditary melanoma 126
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 Genetic Variants in CDK6 and XRCC1 with the Risk of Dysplastic Nevi in Melanoma-Prone Families. 124
Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome 124
Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma 123
Genetic testing for melanoma 122
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study 122
Overcoming resistance to BRAF inhibition in BRAF-mutated metastatic melanoma. 120
Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients. 120
Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma 119
Signs and genetics of rare cancer syndromes with gastroenterological features 119
Coexisting NRAS and BRAF Mutations in Primary Familial Melanomas with Specific CDKN2A Germline Alterations. 118
Clinical genetic testing for familial melanoma in Italy: a cooperative study. 117
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL 116
Pathological and molecular characteristics distinguishing contralateral metastatic from new primary breast cancer 116
The 5'-untranslated region of p16INK4a melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding 115
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 114
MelaNostrum: A Consensus Questionnaire of Standardized Epidemiologic and Clinical Variables for Melanoma Risk Assessment by the MelaNostrum Consortium 114
Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations 111
Alcohol and Tobacco Lower the Age of Presentation in Sporadic Pancreatic Cancer in a Dose-Dependent Manner: A Multicenter Study. 111
Somatic BRAF and NRAS Mutations in Familial Melanomas with Known Germline CDKN2A Status: A GenoMEL Study. 109
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL) 109
Meta-analysis combining new and existing data sets confirms that the TERT-CLPTM1L locus influences melanoma risk. 109
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant 108
Mutational concordance between primary and metastatic melanoma: A next-generation sequencing approach 107
Mutation screening of the CDKN2A promoter melanoma families 106
The 5′-untranslated region of p16INK4a acts as a cellular IRES, controls mRNA translation during hypoxic and energetic stresses, and is a target of YBX1 105
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma 104
Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. 104
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 103
CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment 103
BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study 102
Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies 102
The CDKN2A/p16INK4a 5'UTR sequence and translational regulation: Impact of novel variants predisposing to melanoma 102
Molecular characterization of an Italian series of sporadic GISTs. 102
Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma. 102
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT 102
A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds 101
Genetic predisposition to pancreatic cancer. 101
Common sequence variants on 20q11.22 confer melanoma susceptibility 101
Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families 100
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma 98
A variant in FTO shows association with melanoma risk not due to BMI. 98
High prevalence of the G101W germline mutation in the CDKN2A (P16INK4A) gene in 62 Italian malignant melanoma families 98
High prevalence of the Gly101Trp germline mutation in the CDKN2A gene in 62 small Italian families 97
Impact of novel CDKN2A/p16INK4a 5’UTR variants predisposing to melanoma on p16 translational regulation 97
MDM2 SNP309 genotype influences survival of metastatic but not of localized neuroblastoma 97
Functional analysis of a CDKN2A 5’UTR germline variant associated with pancreatic cancer development 97
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls 97
Expression and localization of mutant p16 proteins in melanocytic lesions from familial melanoma patients 97
Ink4/ARF germline mutations and additional neoplasia in pancretic cancer patients and their families 96
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma 96
INK4/ARF germline alterations in pancreatic cancer patients 96
The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients 95
Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes 95
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide 95
On the Interplay of Telomeres, Nevi and the Risk of Melanoma 94
Linkage Analysis in melanoma prone families 93
Italian Melanoma-prone Families:Germline mutational analysis and Clinical-Epidemiological Characterization 93
MEL-P, a GM-CSF-producing human melanoma cell line 93
Hereditary trichilemmal cysts: A proposal for the assessment of diagnostic clinical criteria 93
CDKN2A germline mutation analysis in patients with pancreatic adenocarcinoma 92
Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma-prone family. 92
Geographical variation in the penetrance of CDKN2A mutations for melanoma 91
Linkage analysis in Italian melanoma-prone families. 90
Analysis of p16 protein expression in familial melanoma patients: correlation with germline status. 90
Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study 90
CDKN2A germline mutation analysis in patients with pancreatic adenocarcinoma from Liguria 89
ANALISI GENOME-WIDE PER LA SUSCETTIBILITÀ AL MELANOMA: NUOVI LOCICHE CONFERMANO IL RUOLO DEI GENI DELLA PIGMENTAZIONE 89
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
3’UTR polymorphisms in the CDKN2A gene and age at onset of familial and sporadic melanoma 87
P16 germline mutations and protein expression in melanoma lesions from familial melanoma patients 87
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
Totale 11.148
Categoria #
all - tutte 50.168
article - articoli 43.668
book - libri 0
conference - conferenze 5.961
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 539
Totale 100.336


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204.391 185 93 193 267 397 487 672 339 407 729 498 124
2020/20211.456 92 112 171 119 71 114 86 113 136 170 129 143
2021/20222.200 94 174 130 244 90 169 166 495 94 209 83 252
2022/20232.346 269 153 25 235 430 365 17 187 388 16 219 42
2023/20241.281 52 154 20 140 77 209 96 77 97 36 77 246
2024/2025101 101 0 0 0 0 0 0 0 0 0 0 0
Totale 16.182