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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
(B M J PUBLISHING GROUP, 2008)
We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods ...
A study of adrenocortical tumors in children and adolescents by a comparative genomic hybridization technique
(ELSEVIER SCIENCE INC, 2011)
Adrenocortical tumors (ACT) are rare neoplasms of the adrenal glands accounting for 0.2% of all pediatric cancers. However, the incidence of ACT in South Brazilian children is 10 to 15 times greater than the worldwide ...
Deep neural architectures for highly imbalanced data in bioinformatics
(IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC, 2019-09)
In the postgenome era, many problems in bioinfor-matics have arisen due to the generation of large amounts ofimbalanced data. In particular, the computational classificationof precursor microRNA (pre-miRNA) involves a high ...
Chromosome imbalances in syndromic hearing loss
(WILEY-BLACKWELL PUBLISHING, INC, 2009)
The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose ...
Genomic imbalances detected through array CGH in fetuses with holoprosencephalyInstabilidades genômicas detectadas através de array CGH em fetos com holoprosencefalia
(Academia Brasileira de Neurologia - ABNEURO, 2011)
Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitasAnalysis of chromosomal abnormalities, genomic imbalances, and sequence variants as cause of congenital heart defects
(Ministerio de Salud de la Nación, 2021-02)
. INTRODUCCIÓN: Las cardiopatías congénitas (CC) son causadas por el desarrollo anómalo del corazón durante el período embriofetal. Abarcan un amplio espectro de anomalías estructurales de las cavidades cardíacas o de los ...
Comparative genomic hybridization analysis of benign and invasive male breast neoplasms
(Elsevier B.V., 2002-04-15)
Comparative genomic hybridization (CGH) analysis was performed for the identification of chromosomal imbalances in two benign gynecomastias and one malignant breast carcinoma derived from patients with male breast disease ...
Comparative genomic hybridization analysis of benign and invasive male breast neoplasms
(Elsevier B.V., 2002-04-15)
Comparative genomic hybridization (CGH) analysis was performed for the identification of chromosomal imbalances in two benign gynecomastias and one malignant breast carcinoma derived from patients with male breast disease ...