"OpenArray" · 2 results · Global ETD Search

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Showing 1 to 2 of 2 for “"OpenArray"”.

UNRAVELLING THE MOLECULAR BASIS OF ALZHEIMER¿S DISEASE AND FRONTOTEMPORAL DEMENTIA: GENETIC AND EPIGENETIC APPROACH THROUGH NEXT GENERATION SEQUENCING AND OPENARRAY TECHNOLOGIES

SORRENTINO, FEDERICAUniversità degli Studi di Milano2023

… and MAPT genes, and 10 control subjects, using OpenArray technology. Following the genetic study, a total of 35 variants were found in 36 over 188 patients screened. Some of these variants occurred in causative genes or in genetic risk factors associated to AD and FTD; other genes were …

milano Repository record for UNRAVELLING THE MOLECULAR BASIS OF ALZHEIMER¿S DISEASE AND FRONTOTEMPORAL DEMENTIA: GENETIC AND EPIGENETIC APPROACH THROUGH NEXT GENERATION SEQUENCING AND OPENARRAY TECHNOLOGIES (opens in a new tab)
Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection

Theriault, Mylene A.Université d'Ottawa / University of Ottawa2013

… and analytical ranges could be combined on the OpenArray system and in multiplexed qPCR reactions. SNP detection of homozygous SMN1 deletions in SMA, CNV detection in the 22q11.2 critical region, and quantification of the SCID biomarker, T-cell receptor excision circles (TRECs) and CMV were all …

ottawa-retro Repository record for Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection (opens in a new tab)