Lista de obras - Miriam Potrony - Dominio Público Uruguay

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk

artículo científico publicado en 2017

Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.

artículo científico publicado en 2016

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Cross-cohort gut microbiome associations with immune checkpoint inhibitor response in advanced melanoma

artículo científico publicado en 2022

DNA Repair and Immune Response Pathways Are Deregulated in Melanocyte-Keratinocyte Co-cultures Derived From the Healthy Skin of Familial Melanoma Patients

publication published on 01 October 2021

Detection of cell-free circulating BRAFV 600E by droplet digital polymerase chain reaction in patients with and without melanoma under dermatological surveillance

artículo científico publicado en 2019

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

artículo científico publicado en 2018

Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

artículo científico publicado en 2016

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 linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q

article

Genomic analysis and clinical management of adolescent cutaneous melanoma

artículo científico publicado en 2017

IRF4 rs12203592 functional variant and melanoma survival.

artículo científico publicado en 2017

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.

artículo científico publicado en 2014

Inherited MC1R variants in patients with melanoma are associated with better survival in women

artículo científico publicado en 2019

Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival

artículo científico publicado en 2016

Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer

artículo científico publicado en 2020

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

scientific article published on 12 March 2019

Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.

artículo científico publicado en 2017

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

artículo científico publicado en 2019

Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations

artículo científico publicado en 2015

Reply

artículo científico publicado en 2015

Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters

artículo científico publicado en 2013

Sex as a predictor of response to cancer immunotherapy

artículo científico publicado en 2018

TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma

artículo científico publicado en 2014

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

artículo científico publicado en 2015

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

artículo científico publicado en 2016

Time and tumor type (primary or metastatic) do not influence the detection of BRAF/NRAS mutations in formalin fixed paraffin embedded samples from melanomas.

artículo científico publicado en 2016

Update in genetic susceptibility in melanoma

artículo científico publicado en 2015

Lista de obras de Miriam Potrony

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk

Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

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

Cross-cohort gut microbiome associations with immune checkpoint inhibitor response in advanced melanoma

DNA Repair and Immune Response Pathways Are Deregulated in Melanocyte-Keratinocyte Co-cultures Derived From the Healthy Skin of Familial Melanoma Patients

Detection of cell-free circulating BRAFV 600E by droplet digital polymerase chain reaction in patients with and without melanoma under dermatological surveillance

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

Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

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

Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q

Genomic analysis and clinical management of adolescent cutaneous melanoma

IRF4 rs12203592 functional variant and melanoma survival.

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.

Inherited MC1R variants in patients with melanoma are associated with better survival in women

Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival

Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer

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

Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations

Reply

Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters

Sex as a predictor of response to cancer immunotherapy

TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Time and tumor type (primary or metastatic) do not influence the detection of BRAF/NRAS mutations in formalin fixed paraffin embedded samples from melanomas.

Update in genetic susceptibility in melanoma