Advanced search

Authors whose works are in public domain in at least one jurisdiction

List of works by Miriam Potrony

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

scientific article published on 3 December 2017

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

scientific article

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.

scientific article published on 17 December 2015

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

scientific article published on 01 December 2018

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

scientific article published on 28 February 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

scientific article published on 12 August 2019

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

scientific article published on 05 October 2018

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

scientific article published on 30 July 2016

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

scientific article published on 27 April 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

scientific article

IRF4 rs12203592 functional variant and melanoma survival.

scientific article published on 19 January 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.

scientific article

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

scientific article published on 13 May 2019

Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival

scientific article

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

scientific article published on 14 March 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.

scientific article published on 26 September 2017

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

scientific article published on 27 February 2019

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

scientific article published on 9 December 2015

Reply

scientific article published on 12 December 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

scientific article published on July 2013

Sex as a predictor of response to cancer immunotherapy

scientific article published in August 2018

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

scientific article

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

scientific article published on 13 March 2015

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

scientific article published on 6 December 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.

scientific article

Update in genetic susceptibility in melanoma

scientific article

Paulina is supported by:

About Paulina

Help