IRIS
GHIORZO, PAOLA
 Distribuzione geografica
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Continente #
EU - Europa 15.310
Totale 15.310
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Nazione #
IT - Italia 15.310
Totale 15.310
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Città #
Genova 12.035
Rapallo 1.927
Genoa 1.301
Bordighera 47
Totale 15.310
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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
Incidence of other neoplasia in Italian melanoma-prone families with p16 (GLy93Trp) mutation 149
Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup 141
An upstream positive regulatory element in human GM-CSF promoter is recognized by NF-kB/Rel family members 140
The effect on melanoma risk of genes previously associated with telomere length. 139
MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: A pooled-analysis from the M-SKIP project. 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
PCCR: Pancreatic Cancer Collaborative Registry. 137
BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies. 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. 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
Anti-inflammatory effects of leflunomide on cultured synovial macrophages from patients with rheumatoid arthritis. 128
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
Identification, genetic testing, and management of hereditary melanoma 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
Genetic testing for melanoma 121
Association of Genetic Variants in CDK6 and XRCC1 with the Risk of Dysplastic Nevi in Melanoma-Prone Families. 120
Coexisting NRAS and BRAF Mutations in Primary Familial Melanomas with Specific CDKN2A Germline Alterations. 118
Signs and genetics of rare cancer syndromes with gastroenterological features 118
Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma 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
Pathological and molecular characteristics distinguishing contralateral metastatic from new primary breast cancer 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
Overcoming resistance to BRAF inhibition in BRAF-mutated metastatic melanoma. 114
The 5'-untranslated region of p16INK4a melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding 114
High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL 114
MelaNostrum: A Consensus Questionnaire of Standardized Epidemiologic and Clinical Variables for Melanoma Risk Assessment by the MelaNostrum Consortium 113
Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations 110
Somatic BRAF and NRAS Mutations in Familial Melanomas with Known Germline CDKN2A Status: A GenoMEL Study. 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 106
Mutation screening of the CDKN2A promoter melanoma families 105
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
Alcohol and Tobacco Lower the Age of Presentation in Sporadic Pancreatic Cancer in a Dose-Dependent Manner: A Multicenter Study. 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
Mutational concordance between primary and metastatic melanoma: A next-generation sequencing approach 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
Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies 101
The CDKN2A/p16INK4a 5'UTR sequence and translational regulation: Impact of novel variants predisposing to melanoma 101
Genetic predisposition to pancreatic cancer. 101
Common sequence variants on 20q11.22 confer melanoma susceptibility 101
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT 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
BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study 99
Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families 99
Molecular characterization of an Italian series of sporadic GISTs. 98
Varianti polimorfiche del gene MC1R (Melanocortin receptor 1) nella popolazione ligure ed associazione con il rischio di melanoma 97
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma 97
High prevalence of the G101W germline mutation in the CDKN2A (P16INK4A) gene in 62 Italian malignant melanoma families 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
A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds 96
INK4/ARF germline alterations in pancreatic cancer patients 96
Expression and localization of mutant p16 proteins in melanocytic lesions from familial melanoma patients 96
Impact of novel CDKN2A/p16INK4a 5’UTR variants predisposing to melanoma on p16 translational regulation 95
The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients 95
MDM2 SNP309 genotype influences survival of metastatic but not of localized neuroblastoma 95
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
Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes 95
High prevalence of the Gly101Trp germline mutation in the CDKN2A gene in 62 small Italian families 94
Ink4/ARF germline mutations and additional neoplasia in pancretic cancer patients and their families 94
A variant in FTO shows association with melanoma risk not due to BMI. 93
On the Interplay of Telomeres, Nevi and the Risk of Melanoma 93
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide 93
Linkage Analysis in melanoma prone families 92
MEL-P, a GM-CSF-producing human melanoma cell line 92
Hereditary trichilemmal cysts: A proposal for the assessment of diagnostic clinical criteria 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 90
Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study 90
Linkage analysis in Italian melanoma-prone families. 89
Italian Melanoma-prone Families:Germline mutational analysis and Clinical-Epidemiological Characterization 89
CDKN2A germline mutation analysis in patients with pancreatic adenocarcinoma 87
CDKN2A germline mutation analysis in patients with pancreatic adenocarcinoma from Liguria 86
Analysis of p16 protein expression in familial melanoma patients: correlation with germline status. 86
P16 germline mutations and protein expression in melanoma lesions from familial melanoma patients 86
MC1R gene variants and non-melanoma skin cancer: A pooled-analysis from the M-SKIP project 86
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. 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
Totale 10.938
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Categoria #
all - tutte 46.483
article - articoli 40.586
book - libri 0
conference - conferenze 5.421
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 476
Totale 92.966
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019708 0 0 0 0 0 0 0 0 0 0 395 313
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
2023/2024960 52 154 20 140 77 209 98 77 97 36 0 0
Totale 15.760