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Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia
(WILEY-BLACKWELLHOBOKEN, 2012)
We report on a boy presenting submucous cleft palate, hydronephrosis, ventriculoseptal defect, aniridia, and developmental delay. Additional material on 11p13 was cytogenetically visible and array analyses identified a ...
Análise molecular de pacientes com holoprosencefalia
(Universidade Estadual Paulista (Unesp), 2015-02-12)
Craniofacial anomalies are skull development changes and face that may or may not be accompanied by structural malformations and / or functional CNS. These represent the fourth most common cause among the congenital anomalies ...
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 ...
Nuclear DNA content in 20 species of Siluriformes (Teleostei: Ostariophysi) from the Neotropical region
(Sociedade Brasileira de Genética, 2004-01-01)
In the present study, 20 species of Siluriformes fish were analyzed in order to determine their nuclear DNA content and compare these data with their diploid number. In addition, the extension and importance of the changes ...
Two different philadelphia chromosomes in a cell line from an AML-M0 patient
(1997)
A second Philadelphia (Ph) chromosome is one of the most common nonrandom secondary chromosome changes in leukemias with 9;22 translorations. It has been suggested, and observed in two studies of masked t(9;22), that the ...
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 ...
Two different philadelphia chromosomes in a cell line from an AML-M0 patient
(1997)
A second Philadelphia (Ph) chromosome is one of the most common nonrandom secondary chromosome changes in leukemias with 9;22 translorations. It has been suggested, and observed in two studies of masked t(9;22), that the ...
Nuclear DNA content in 20 species of Siluriformes (Teleostei: Ostariophysi) from the Neotropical region
(Sociedade Brasileira de Genética, 2004-01-01)
In the present study, 20 species of Siluriformes fish were analyzed in order to determine their nuclear DNA content and compare these data with their diploid number. In addition, the extension and importance of the changes ...
Study of candidate genes for dyslexia in Brazilian individuals
(Funpec-editoraRibeirao PretoBrasil, 2013)