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Mostrando ítems 21-30 de 1850
Timely diagnosis of Wilson's disease using whole exome sequencing
(Elsevier, 2015-11)
Wilson's disease (WD) is a rare inborn error of copper metabolism caused by mutations in ATP7B gene. Although there is no genetic heterogeneity in WD etiology, the widespread clinical presentation of WD makes its diagnosis ...
Characterization of 23 Polymorphic SSR Markers in Salix humboldtiana (Salicaceae) Using Next-Generation Sequencing and Cross-Amplification from Related Species
(Botanical Society of America, 2015-04-07)
Premise of the study: We present a set of 23 polymorphic nuclear microsatellite loci, 18 of which are identified for the first time within the riparian species Salix humboldtiana (Salicaceae) using next‐generation ...
Isolation and characterization of 14 tetranucleotide microsatellite loci for the cannonball jellyfish (Stomolophus sp.) by next generation sequencing
(Springer, 2017-04)
The Cannonball jellyfish (Stomolophus sp.) is a species of jellyfish with high relevance in artisanal fishing. Studies of their populations do not extend beyond the morphological descriptions knowing that presents a great ...
Next-Generation Sequencing Reveals Pathway Activations and New Routes to Targeted Therapies in Cutaneous Metastatic Melanoma
(Lippincott Williams & Wilkins, 2017-01-01)
Background: Comprehensive genomic profiling of clinical samples by next-generation sequencing (NGS) can identify one or more therapy targets for the treatment of metastatic melanoma (MM) with a single diagnostic test. ...
Estado da arte do sequenciamento genômico na pecuária
(2013)
There has been a lot of advance in genomics since 1975 when the possibility to determine the nucleotide sequence of a genome was described. In the 90’s the human genome sequencing was started and it was greatly favored by ...
Next Generation Sequencing of Pooled Samples Reveals New SNRNP200 Mutations Associated with Retinitis Pigmentosa
(WILEY-BLACKWELL, 2011)
The gene SNRNP200 is composed of 45 exons and encodes a protein essential for pre-mRNA splicing, the 200 kDa helicase hBrr2. Two mutations in SNRNP200 have recently been associated with autosomal dominant retinitis pigmentosa ...