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Mostrando ítems 11-20 de 97
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
(Oxford University Press, 2015-09)
SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound after 15 years old, with progressive joint contractures ...
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders
(2022)
Background: Pediatric nonmalignant lymphoproliferative disorders (PLPDs) are clinically and genetically heterogeneous. Long-standing immune dysregulation and lymphoproliferation in children may be life-threatening, and a ...
Reconstructing native american migrations from whole-genome and whole-exome data
(Public Library Science, 2013-10)
There is great scientific and popular interest in understanding the genetic history of populations in the Americas. We wish to understand when different regions of the continent were inhabited, where settlers came from, ...
Molecular and cellular pathogenesis of pituitary tumors
(Elsevier, 2018-08)
Pituitary tumors occur sporadically (95%) or as hereditary tumors, either associated with endocrine syndromes (2.5%) or as familial isolated variants (FIPA, 2.5%). In sporadic pituitary tumors, in addition to the known ...
A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy
(2018)
Background: Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved ...
Mapping causal mutations by exome sequencing in a wheat TILLING population: a tall mutant case study
(Springer, 2018-04)
Forward genetic screens of induced mutant plant populations are powerful tools to identify genes underlying phenotypes of interest. Using traditional techniques, mapping causative mutations from forward screens is a lengthy, ...
Alport autossômica: um estudo de duas famílias norte-rio-grandenses
(BrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM BIOINFORMÁTICA, 2019-12-19)
Alport syndrome (AS) is a genetically rare, heterogeneous and hereditary pathology
associated with germline mutations in collagen type IV genes (COL4A3, COL4A4 and
COL4A5). Characterized by progressive loss of renal ...