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Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system
(Springer, 2020-09-13)
Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination of its etiology is usually complex. Though many countries have ...
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
(BioMed Central, 2018)
Abstract
Background
Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct ...
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
(Biomed Central Ltd, 2018)
Background: Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical ...
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes
(BioMed Central Ltd.London, 2014-10-31)
Background
Certain rare syndromes with developmental delay or intellectual disability caused by genomic copy number variants (CNVs), either deletions or duplications, are associated with higher rates of obesity. Current ...
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
(CELL PRESS, 2010)
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies ...
Genomic Imbalances In Syndromic Congenital Heart Disease
(Elsevier Editora Ltda, 2016)
Investigação citogenômica em pacientes com cardiopatias congênitas
(Universidade Estadual Paulista (Unesp), 2018-05-04)
As cardiopatias congênitas (CCs) podem ser definidas como qualquer anormalidade na estrutura e/ou na função cardiocirculatória presente ao nascimento. Constituem as malformações congênitas mais comuns entre recém-nascidos ...
Análise cromossômica por microarranjos aplicada à identificação de alterações genômicas em pacientes com fissura lábio palatina
(BrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM CIÊNCIAS DA SAÚDE, 2019-11-12)
Non-syndromic orofacial clefts (OFC) consist of craniofacial malformations
characterized by the presence of abnormal spaces or gaps in the upper lip, alveolus
and/or palate, which may have effects on speech, hearing, ...
Doenças cardíacas congênitas (DCCS) : investigação de etiologia genética
(2022-09-06)
As doenças cardíacas congênitas (DCCs) são definidas como alterações
estruturais no coração e nos grandes vasos presentes ao nascimento. Acometem em
todo o mundo de 1 a 5% de todos os nascidos vivos, sendo, portanto, o ...
Aplicabilidade de redes PPI em Biologia de sistemas no contexto da síndrome de Williams-Beuren
(Universidade Estadual Paulista (Unesp), 2022-02-07)
Uma microdeleção hemizigótica de 1,5Mb a 1,8Mb na região do braço longo do cromossomo 7 (7q11.23) ocasiona uma doença genética rara multigênica. Faces típicas, doenças cardiovasculares, alterações do tecido conjuntivo ...