Lista de obras - Paola Ghiorzo - Dominio Público Uruguay

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

artículo científico publicado en 2011

A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer.

artículo científico publicado en 2015

A variant in FTO shows association with melanoma risk not due to BMI

artículo científico publicado en 2013

Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma

artículo científico publicado en 2016

Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families

artículo científico publicado en 2013

BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study

artículo científico publicado en 2004

CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients

article

Clinical genetic testing for familial melanoma in Italy: A cooperative study

article

Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies

scientific article published on 15 November 2019

Correction: Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.

artículo científico publicado en 2018

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

article

Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline mutations

artículo científico publicado en 2018

Erratum: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

artículo científico publicado en 2015

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

scientific article published on 05 February 2019

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

artículo científico publicado en 2014

Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development

artículo científico publicado en 2017

Genetic predisposition to pancreatic cancer

artículo científico publicado en 2014

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

artículo científico publicado en 2020

Genome-wide association study identifies three loci associated with melanoma risk

scientific article published on 05 July 2009

Genome-wide association study identifies three new melanoma susceptibility loci

artículo científico publicado en 2011

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

artículo científico publicado en 2015

Geographical variation in the penetrance of CDKN2A mutations for melanoma

artículo científico publicado en 2002

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

artículo científico publicado en 2017

Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry

scientific article published on 22 December 2016

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

article

Identification, genetic testing, and management of hereditary melanoma.

artículo científico publicado en 2017

Insights into Mechanisms of Tumorigenesis in Neuroendocrine Neoplasms

artículo científico publicado en 2021

MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project. ⬇️

artículo científico publicado en 2018

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

scientific article published on 12 March 2019

MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project

artículo científico publicado en 2014

MelaNostrum: a consensus questionnaire of standardized epidemiologic and clinical variables for melanoma risk assessment by the melanostrum consortium

artículo científico publicado en 2018

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

artículo científico publicado en 2012

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

No Evidence for Linkage with Melanoma in Italian Melanoma-Prone Families

artículo científico publicado en 2008

On the interplay of telomeres, nevi and the risk of melanoma

artículo científico publicado en 2012

Overcoming resistance to BRAF inhibition in BRAF-mutated metastatic melanoma

artículo científico publicado en 2014

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

artículo científico publicado en 2016

Predicting the Risk of Pancreatic Cancer: OnCDKN2AMutations in the Melanoma-Pancreatic Cancer Syndrome in Italy

article

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

article

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

artículo científico publicado en 2014

TP63 mutations are frequent in cutaneous melanoma, support UV etiology, but their role in melanomagenesis is unclear.

artículo científico publicado en 2017

The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients

artículo científico publicado en 2016

The effect on melanoma risk of genes previously associated with telomere length

artículo científico publicado en 2014

Lista de obras de Paola Ghiorzo

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

A combination of immunohistochemistry and molecular approaches improves highly sensitive detection of BRAF mutations in papillary thyroid cancer.

A variant in FTO shows association with melanoma risk not due to BMI

Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma

Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families

BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study

CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients

Clinical genetic testing for familial melanoma in Italy: A cooperative study

Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies

Correction: Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations.

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline mutations

Erratum: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions

Functional analysis of a CDKN2A 5'UTR germline variant associated with pancreatic cancer development

Genetic predisposition to pancreatic cancer

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Genome-wide association study identifies three loci associated with melanoma risk

Genome-wide association study identifies three new melanoma susceptibility loci

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

Geographical variation in the penetrance of CDKN2A mutations for melanoma

Germline variation at CDKN2A and associations with nevus phenotypes among members of melanoma families. ⬇️

Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

Identification, genetic testing, and management of hereditary melanoma.

Insights into Mechanisms of Tumorigenesis in Neuroendocrine Neoplasms

MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project. ⬇️

MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort

MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project

MelaNostrum: a consensus questionnaire of standardized epidemiologic and clinical variables for melanoma risk assessment by the melanostrum consortium

Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

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

No Evidence for Linkage with Melanoma in Italian Melanoma-Prone Families

On the interplay of telomeres, nevi and the risk of melanoma

Overcoming resistance to BRAF inhibition in BRAF-mutated metastatic melanoma

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

Predicting the Risk of Pancreatic Cancer: OnCDKN2AMutations in the Melanoma-Pancreatic Cancer Syndrome in Italy

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

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

TP63 mutations are frequent in cutaneous melanoma, support UV etiology, but their role in melanomagenesis is unclear.

The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients

The effect on melanoma risk of genes previously associated with telomere length