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List of works by Rafael B R León-Cachón

"Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance"

scientific article published on 24 March 2020

A novel method to detect the Mexican founder mutation BRCA1 ex9‑12del associated with breast and ovarian cancer using quantitative polymerase chain reaction and TaqMan® probes

scientific article published on 06 June 2018

A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers.

scientific article published in January 2015

ACE, APOA5, and MTP Gene Polymorphisms Analysis in Relation to Triglyceride and Insulin Levels in Pediatric Patients

scientific article published on 01 February 2018

Application of Genomic Technologies in Clinical Pharmacology Research.

scientific article published on July 2015

Assessment of biochemical parameters and characterization of TNFα -308G/A and PTPN22 +1858C/T gene polymorphisms in the risk of obesity in adolescents.

scientific article published on 27 October 2015

Association study of genetic polymorphisms in proteins involved in oseltamivir transport, metabolism, and interactions with adverse reactions in Mexican patients with acute respiratory diseases

scientific article published on 04 February 2020

Effect of AGTR1 and BDKRB2 gene polymorphisms on atorvastatin metabolism in a Mexican population

scientific article published on 25 October 2017

Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate

scientific article published on 24 August 2012

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25.

scientific article

Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus.

scientific article

Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome

scientific article published on 17 July 2018

Molecular identification of unusual Mycetoma agents isolated from patients in Venezuela.

scientific article published on 21 October 2016

Pharmacogenetics of amfepramone in healthy Mexican subjects reveals potential markers for tailoring pharmacotherapy of obesity: results of a randomised trial

scientific article published on 28 November 2019

Phenotypic and molecular identification of Fonsecaea pedrosoi strains isolated from chromoblastomycosis patients in Mexico and Venezuela

scientific article

Prediction of atorvastatin plasmatic concentrations in healthy volunteers using integrated pharmacogenetics sequencing.

scientific article published on 15 December 2016

Rapid Detection of the GSTM3 A/B Polymorphism Using Real-time PCR with TaqMan(®) Probes.

scientific article published in February 2016

Real-time PCR detection of the recessive dystrophic epidermolysis bullosa-associated c.2470insG mutation in unrelated Mexican families.

scientific article

SeXY chromosomes and the immune system: reflections after a comparative study

scientific article published on 14 January 2020

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