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Development of chromosomal markers based on next-generation sequencing: The B chromosome of the cichlid fish Astatotilapia latifasciata as a model
(2016-08-18)
Background: B chromosomes (Bs) are additional chromosomal elements found in a wide range of eukaryotes including fungi, plants and animals. B chromosomes are still enigmatic despite being the subject of hundreds, even ...
Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency
(Assoc Bras Divulg CientificaSao PauloBrasil, 1996)
A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
(ELSEVIER SCIENCE BVAMSTERDAM, 2012)
Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, ...
Terminal deletion of the short arm of chromosome 3
(1994)
Deletion of the short arm of chromosome number 3, has been proposed as a distinctive syndrome, all cases are (de novo) deletions and the band 3p26 was systematically involved. The comparative study of the 21 reviewed cases ...
Terminal deletion of the short arm of chromosome 3
(1994)
Deletion of the short arm of chromosome number 3, has been proposed as a distinctive syndrome, all cases are (de novo) deletions and the band 3p26 was systematically involved. The comparative study of the 21 reviewed cases ...
Genetic alterations in benign lesions: Chronic gastritis and gastric ulcer
(2006-01-28)
Aim: To investigate the occurrence of chromosome 3, 7, 8, 9, and 17 aneuploidies, TP53 gene deletion and p53 protein expression in chronic gastritis, atrophic gastritis and gastric ulcer, and their association with H pylori ...
Genetic alterations in benign lesions: Chronic gastritis and gastric ulcer
(2006-01-28)
Aim: To investigate the occurrence of chromosome 3, 7, 8, 9, and 17 aneuploidies, TP53 gene deletion and p53 protein expression in chronic gastritis, atrophic gastritis and gastric ulcer, and their association with H pylori ...
Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies
(2015-12-01)
Terminal deletion in the short arm of chromosome 1 results in a disorder described as 1p36 deletion syndrome. The resulting phenotype varies among patients including mental retardation, developmental delay, sensorineural ...