Výsledky vyhledávání - "Mirna Martínez-Saucedo"

Akademický článek

Characterization of two children with tetrasomy 18p syndrome through multiplex ligation-dependent probe amplification and single nucleotide polymorphism-array: expanding phenotype?

Autor: Jaime Toral-López, Luz M. González-Huerta, Mirna Martínez-Saucedo, Olga M. Messina-Baas, Juan Manuel-Valdes, Sergio Cuevas-Covarrubias

Publikováno v: Revista Médica del Hospital General de México, Vol 84, Iss 1 (2021)

Tetrasomy 18p is characterized by intellectual disability and systemic alterations. The aim of this study is to describe two patients with tetrasomy 18p, one of them with clinical data not previously reported. Genomic DNA was analyzed by multiplex li

Externí odkaz: https://doaj.org/article/6b11398c258347d7b7208d61f8d3e523

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Post-publication peer review: another sort of quality control of the scientific record in biomedicine

Autor: Rocío Sánchez-Urbina, Guillermo Aquino-Jarquin, Samara Téllez-Camacho, Mirna Martínez-Saucedo, Javier T. Granados-Riveron

Publikováno v: Gaceta Médica de México. 156

Traditional peer review is undergoing increasing questioning, given the increase in scientific fraud detected and the replication crisis biomedical research is currently going through. Researchers, academic institutions, and research funding agencies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669a0134053bfd67590609ae03719cab
https://doi.org/10.24875/gmm.m21000453

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Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation

Autor: Carolina Ornelas-Fuentes, Mirna Martínez-Saucedo, Guillermo Aquino-Jarquin, Hector Diaz-Garcia, Mark Dedden, Rodrigo Moreno-Salgado, Rocío Sánchez-Urbina, Javier T. Granados-Riveron

Publikováno v: The journal of gene medicineREFERENCES. 22(5)

Background Focal dermal hypoplasia (FDH) is rare X-linked dominant disease characterized by atrophy and linear pigmentation of the skin, split hand/foot deformities and ocular anomalies. FDH is caused by mutations of the Porcupine (PORCN) gene, which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1ca0c97e0b8e8b22599703188d7115e
https://pubmed.ncbi.nlm.nih.gov/31984575

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Identification of human miR‐1839‐5p by small RNA‐seq, a miRNA enriched in neoplastic tissues

Autor: Guillermo Aquino-Jarquin, Patricia Baeza-Capetillo, Jesús Aguirre-Hernández, Yolanda Bárcenas-Gómez, Samara Téllez-Camacho, Mirna Martínez-Saucedo, Javier T. Granados-Riveron, Rocío Sánchez-Urbina, Mark Dedden

Publikováno v: The Journal of Gene Medicine. 21

Background MicroRNAs (miRNAs) modulate gene expression through destabilization or translational inhibition of cytoplasmic transcripts or by transcriptional regulation through binding to genomic DNA. Although miRNAs are globally down-regulated in canc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b253f359172a16072acd2a0b572f8186
https://doi.org/10.1002/jgm.3117

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Genotyping of the Major SARS-CoV-2 Clade by Short-Amplicon High-Resolution Melting (SA-HRM) Analysis

Autor: Mirna Martínez-Saucedo, Hector Diaz-Garcia, Israel Parra-Ortega, Briceida López-Martínez, Ana Laura Guzmán-Ortiz, Tania Angeles-Floriano, Rocío Sánchez-Urbina, Javier T. Granados-Riveron, Guillermo Aquino-Jarquin, Héctor Quezada

Publikováno v: Genes
Genes, Vol 12, Iss 531, p 531 (2021)
Volume 12
Issue 4

The genome of the SARS-CoV-2 virus, the causal agent of the COVID-19 pandemic, has diverged due to multiple mutations since its emergence as a human pathogen in December 2019. Some mutations have defined several SARS-CoV-2 clades that seem to behave

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddd537d01008a34a24a2827c15245b42
https://doi.org/10.3390/genes12040531

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Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment

Autor: Sergio A. Cuevas-Covarrubias, Francisco Loeza-Becerra, Mirna Martínez-Saucedo, Héctor Urueta-Cuellar, Luz María González-Huerta, Pedro Berrruecos-Villalobos, M.R. Rivera-Vega

Publikováno v: International Journal of Pediatric Otorhinolaryngology. 78:1057-1060

Background Hereditary sensorineural hearing loss (SNHL) is a genetically heterogeneous disorder worldwide. Mutations in the GJB2 gene are a frequent cause of hereditary SNHL. There is a prevalence of certain mutations in various populations which sug

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d089f8a09dd4d34c981c5465b81d5437
https://doi.org/10.1016/j.ijporl.2014.04.002

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