Lista de obras - Lorenza Pastorino - 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 novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome.

artículo científico publicado en 2016

Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome.

artículo científico publicado en 2012

Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci

artículo científico publicado en 2009

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study

artículo científico publicado en 2010

BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies.

artículo científico publicado en 2015

Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor.

artículo científico publicado en 2014

Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.

artículo científico publicado en 2011

CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.

artículo científico publicado en 2009

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

article

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

artículo científico publicado en 2008

CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.

artículo científico publicado en 2014

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

article

Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma

scientific article published in 2018

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

artículo científico publicado en 2018

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

article

Coping with formalin banning in pathology: under vacuum long-term tissue storage with no added formalin

scientific article published on 02 January 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

Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin

artículo científico publicado en 2018

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome.

artículo científico publicado en 2012

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients

artículo científico publicado en 2004

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

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas

article

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

artículo científico publicado en 2017

Genome-wide association study identifies three new melanoma susceptibility loci

artículo científico publicado en 2011

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

artículo científico publicado en 2009

Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria

artículo científico publicado en 2012

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

scientific article published on 22 December 2016

High prevalence of the G101W germline mutation in theCDKN2A(P16ink4a) gene in 62 Italian malignant melanoma families

article

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

artículo científico publicado en 2009

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma

article

MC1Rvariation and melanoma risk in relation to host/clinical and environmental factors inCDKN2Apositive and negative melanoma patients

article

Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective

artículo científico publicado en 2009

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

artículo científico publicado en 2013

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

artículo científico publicado en 2005

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

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

artículo científico publicado en 2005

PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).

artículo científico publicado en 2018

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

article

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

artículo científico publicado en 2012

Proteomic analysis of PTCH1+/- fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients.

artículo científico publicado en 2013

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

artículo científico publicado en 2014

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

artículo científico publicado en 2014

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

artículo científico publicado en 2015

The role of AIRE polymorphisms in melanoma

artículo científico publicado en 2010

Lista de obras de Lorenza Pastorino

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 novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome.

Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome.

Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study

BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies.

Brooke-Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor.

Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.

CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.

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

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.

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

Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy

Coping with formalin banning in pathology: under vacuum long-term tissue storage with no added formalin

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

Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome.

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients

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

Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas

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

Genome-wide association study identifies three new melanoma susceptibility loci

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria

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

High prevalence of the G101W germline mutation in theCDKN2A(P16ink4a) gene in 62 Italian malignant melanoma families

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma

MC1Rvariation and melanoma risk in relation to host/clinical and environmental factors inCDKN2Apositive and negative melanoma patients

Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

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

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).

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

Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.

Proteomic analysis of PTCH1+/- fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients.

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

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

The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma

The role of AIRE polymorphisms in melanoma