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A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
(ELSEVIER SCIENCE BVAMSTERDAM, 2012)
Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, ...
ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients
(Springer, 2015-10-01)
Despite one third of breast (BC) and colorectal cancer (CRC) cases having a hereditary component, only a small proportion can be explained by germline mutations. The aim of this study was to identify potential genomic ...
The FGM bivariate lifetime copula model: a bayesian approach
(2011)
In this paper, we propose a bivariate distribution for the bivariate survival times based on Farlie-Gumbel-Morgenstern copula to model the dependence on a bivariate survival data. The proposed model allows for the presence ...
Influence analysis for the generalized Waring regression model
(TAYLOR & FRANCIS LTD, 2020)
In this paper, we consider a regression model under the generalized Waring distribution for modeling count data. We develop and implement local influence diagnostic techniques based on likelihood displacement. Also we ...
Identification of a Rare Germline Heterozygous Deletion Involving the Polycistronic miR-17–92 Cluster in Two First-Degree Relatives from a BRCA 1/2 Negative Chilean Family with Familial Breast Cancer: Possible Functional Implications
(2018)
Micro-RNAs (miRNAs) have emerged as novel gene expression regulators. Recent evidence strongly suggests a role for miRNAs in a large variety of cancer-related pathways. Different studies have shown that 18.7 to 37% of all ...
Identification of a rare germline heterozygous deletion involving the polycistronic miR-17-92 cluster in two first degree relatives from a BRCA 1/2 negative chilean family with familial breast cancer: possible functional implications
(MDPI, 2018)
Micro-RNAs (miRNAs) have emerged as novel gene expression regulators. Recent evidence strongly suggests a role for miRNAs in a large variety of cancer-related pathways. Different studies have shown that 18.7 to 37% of all ...
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
(Sociedade Brasileira de Genética, 2007-01-01)
Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome ...