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Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
(ELSEVIER SCIENCE BV, 2011)
Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice ...
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
(Elsevier B.V., 2011-07-01)
Conventional karyotyping detects anomalies in 3-15% of patients with multiple congenital anomalies and mental retardation (MCA/MR). Whole-genome array screening (WGAS) has been consistently suggested as the first choice ...
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 ...
Genomic imbalances associated with mullerian aplasia
(B M J PUBLISHING GROUP, 2008)
Background: Aplasia of the mullerian ducts leads to absence of the uterine corpus, uterine cervix, and upper (superior) vagina. Patients with mullerian aplasia (MA) often exhibit additional clinical features such as renal, ...
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
(BioMed Central, 2015)
Abstract
Background
About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element ...
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)
Copy number imbalances detected with a BAC-based array comparative genomic hybridization platform in congenital diaphragmatic hernia fetuses
(Funpec-editoraRibeirao PretoBrasil, 2011)