Zobrazeno 1 - 10 of 14 pro vyhledávání: '"Elinette Albino"'
2
Akademický článek
360 Retrospective Evaluation of Whole-Exome Sequencing in Puerto Ricans with Neurogenetic Complex Traits
Autor: Elinette Albino, Simon Carlo, Cristel Chapel-Crespo, Alberto Santiago-Cornier, Carmen Buxo
Publikováno v: Journal of Clinical and Translational Science, Vol 6, Pp 67-67 (2022)
OBJECTIVES/GOALS: Assess the diagnostic yield and test utilization of WES in patients having complex traits. We aim to evaluate the use of the first genetic approach for the identification of primary variants that contribute to neurogenetic disease e
Externí odkaz: https://doaj.org/article/b6964ad0159f48d09e245f7b5faabd2c
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3
Akademický článek
11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans
Autor: Elinette Albino, Carmen Buxo, Fernando Scaglia, Alberto Santiago-Cornier
Publikováno v: Journal of Clinical and Translational Science, Vol 5, Pp 106-106 (2021)
ABSTRACT IMPACT: Alterations in mitochondrial metabolism affect any tissue, especially those with the highest demand for energy. As the symptoms and clinical manifestations are heterogenous, disease diagnosis is challenging. The implementation of gen
Externí odkaz: https://doaj.org/article/c6f18a3bf2f242a286a03557009c588c
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4
No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case–Control Analysis
Autor: Rafael Rivera-Lugo, Miguel Echenique, Lenin Godoy, Elinette Albino, Luis Negrón, Julie Dutil, Alvaro N.A. Monteiro, Jaime Matta, Nelly Arroyo
Publikováno v: Genetic Testing and Molecular Biomarkers. 22:85-89
The role of deep intronic variants in hereditary cancer susceptibility has been largely understudied. Previously, the BRCA2 c.6937 + 594TG variant has been shown to preferentially promote the inclusion of a 95 nucleotide cryptic exon and to introduce
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44718cfec49922b76cbc29b275063f3
https://doi.org/10.1089/gtmb.2017.0187
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5
11979 Using whole-exome and mtDNA sequencing to develop a testing algorithm for diagnosis of mitochondrial disease in Puerto Ricans
Autor: Fernando Scaglia, Carmen Buxo, Elinette Albino, Alberto Santiago-Cornier
Publikováno v: Journal of Clinical and Translational Science. 5:106-106
IMPACT: Alterations in mitochondrial metabolism affect any tissue, especially those with the highest demand for energy. As the symptoms and clinical manifestations are heterogenous, disease diagnosis is challenging. The implementation of genetic-firs
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6af1990418840196e2c5f1618fe7a133
https://doi.org/10.1017/cts.2021.671
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6
Impact of Depression and Inflammation on the Progression of HIV Disease
Autor: Elinette Albino, María del C. Sánchez, Fabián J. Vázquez-Santiago, Vanessa Rivera-Amill, Yainyrette Rivera-Rivera
Publikováno v: Journal of clinical & cellular immunology
The human immunodeficiency virus type 1 (HIV-1) epidemic has negatively affected over 40 million people worldwide. Antiretroviral therapy (ART) has improved life expectancy and changed the outcome of HIV-1 infection, making it a chronic and manageabl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703ee0a6274d3fd407c950b89604a578
https://doi.org/10.4172/2155-9899.1000423
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8
Drug‐associated DNA Damage in HIV‐1 Patients taking HAART
Autor: Lenin Godoy, Shirley Jusino, Martin Hill, Elinette Albino, Carmen Ortiz
Publikováno v: The FASEB Journal. 29
Despite the reduction in mortality in HIV-1 positive patients due to the use of highly active antiretroviral therapy (HAART), adverse effects have been associated to long-term usage. Recently, seve...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0366f25dce2e16035b0e23517f6a1f77
https://doi.org/10.1096/fasebj.29.1_supplement.lb108
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