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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 ...
Reviewing Large LAMA2 Deletions and Duplications in Congenital MuscularDystrophy Patients
(IOS PressAmsterdam, 2014-09-30)
Background: Congenital muscular dystrophy (CMD) type 1A (MDC1A) is caused by recessive mutations in laminin-α2 (LAMA2) gene. Laminin-211, a heterotrimeric glycoprotein that contains the α2 chain, is crucial for muscle ...
Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups
(Springer, 2020)
Purpose To investigate the association of partial-AZFc deletions in Chilean men with primary spermatogenic failure and their testicular histopathological phenotypes, analyzing the contribution ofDAZdosage,CDY1copies, and ...
Influence Assessment in an Heteroscedastic Errors-in-Variables Model
(Taylor and Francis Group, LLCPhiladelphia, 2012)
The main goal of this article is to consider influence assessment in models with error-prone observations and variances of the measurement errors changing across observations. The techniques enable to identify potential ...
The log-Weibull-negative-binomial regression model under latent failure causes and presence of randomized activation schemes
(Taylor and FrancisPhiladelphia, 2015-08)
The purpose of this paper is to develop a Bayesian approach for the log-Weibull-negative-binomial regression
model under latent failure causes and presence of a randomized activation mechanism. We assume
the number of ...
Large mitochondrial DNA deletion in an infant with addison disease
(Springer, 2012)
Background: Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is ...
Usefulness of MLPA in the detection of SHOX deletions
(ELSEVIER SCIENCE BV, 2010)
SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS). SHOX deletions are responsible for approximately two thirds ...
Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome
(SOC MEDICA SANTIAGO, 2005)
Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperpbagia, morbid obesity and dysmorphic facial features. It has ...
Gapped sequence alignment using artificial neural networks: Application to the MHC class I system
(Oxford University Press, 2016-02-15)
Motivation: Many biological processes are guided by receptor interactions with linear ligands of variable length. One such receptor is the MHC class I molecule. The length preferences vary depending on the MHC allele, but ...
Avaliação de pacientes com o espectro clínico da síndrome da deleção 22q11.2 através de hibridização in situ por fluorescência e da técnica multiplex ligation-dependent probe amplification
(Universidade Federal de São Paulo (UNIFESP), 2010-04-28)
Introduction: The 22q11.2 deletion is the most frequent human microdeletion syndrome. The phenotype is highly variable and characterized by conotruncal heart defects, facial dysmorphism, velophalangeal dysfunction, ...