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Array comparative genomic hybridization in confirmation of the deleted genes in a patient with subterminal deletion of the long arm of chromosome 10 associated with sagittal craniosynostosis and dysmorphic features
(BioMed Central, 2014)
Craniosynostosis results from premature ossification of
one or more cranial sutures and leads to alterations in
the shape of the skull and/or premature closure of cranial
fontanels, causing impairment of brain ...
Cytogenomic Delineation and Clinical Follow-up of Two Siblings with an 8.5 Mb 6q24.2-q25.2 Deletion Inherited From a Paternal Insertion
(Wiley-Blackwell, 2014-09-01)
The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial ...
Aneuploidies, deletion, and overexpression of TP53 gene in intestinal metaplasia of patients without gastric cancer
(Elsevier B.V., 2004-09-01)
Gastric carcinogenesis is attributable to interacting environmental and genetic factors, through a sequence of events including intestinal metaplasia. Using a fluorescence in situ hybridization technique, we investigated ...
Aneuploidies, deletion, and overexpression of TP53 gene in intestinal metaplasia of patients without gastric cancer
(Elsevier B.V., 2004-09-01)
Gastric carcinogenesis is attributable to interacting environmental and genetic factors, through a sequence of events including intestinal metaplasia. Using a fluorescence in situ hybridization technique, we investigated ...
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
(ELSEVIER SCIENCE BVAMSTERDAM, 2012)
We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features ...
A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion
(Elsevier Science BvAmsterdamHolanda, 2013)
Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22, región q11
(Sociedad Médica de Santiago, 2001)