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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
(Nature Publishing Group, 2015)
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree
(Nature Publishing Group, 2021)
GBS-based single dosage markers for linkage and QTL mapping allow gene mining for yield-related traits in sugarcane
(2017-01-11)
Abstract
Background
Sugarcane (Saccharum spp.) is predominantly an autopolyploid plant with a variable ploidy level, frequent aneuploidy and a large genome that hampers ...
Random X Inactivation and Extensive Mosaicism in Human Placenta Revealed by Analysis of Allele-Specific Gene Expression along the X Chromosome
(PUBLIC LIBRARY SCIENCE, 2010)
Imprinted inactivation of the paternal X chromosome in marsupials is the primordial mechanism of dosage compensation for X-linked genes between females and males in Therians. In Eutherian mammals, X chromosome inactivation ...
The role of the SHOX gene in the development of short stature: an overview of clinical and molecular evaluation
(Research Trends, 2016-12)
SHOX gene (short stature homeobox-containing gene) deficiency is related to a diversity of clinical conditions such as Leri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature, all characterized by growth ...
Creating and validating a warfarin pharmacogenetic dosing algorithm for colombian patients
Purpose: Warfarin is an oral anticoagulant associated with adverse reaction to drugs due to wide inter-and intra-individual dosage variability. Warfarin dosage has been related to non-genetic and genetic factors. CYP2C9 ...
Interactions between programmed death 1 (PD-1) and cytotoxic T lymphocyte antigen 4 (CTLA-4) gene polymorphisms in type 1 diabetes
(2009)
Aim: To explore the contribution of the PD-1 gene polymorphisms involved in T1D as well as the relationship between the PD-1/CTLA-4 genes and soluble CTLA-4 concentrations. Patients and methods: 261 incident cases of T1D ...
Estudo da expressão dos genes do metabolismo do ácido fólico e associação com o desenvolvimento de fendas orais
(BrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM CIÊNCIAS FARMACÊUTICAS, 2012-08-30)
Introduction: There is considerable evidence suggesting that folate-related genes play a role in the etiology of oral facial clefts. Clefts are known to have a strong genetic component. The expression profile of genes ...
Genetic and modifying factors that determine the risk of brain tumors
(2011-03-29)
Some modifying factors may determine the risk of brain tumors. Until now, it could not be attempted to identify people at risk and also to improve significantly disease progression. Current therapy consists of surgical ...