24 documents found, page 1 of 3

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple ...

Made available in DSpace on 2022-04-28T19:01:56Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-12-01; Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq); 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 hearing loss,...

Congenital chromoanagenesis in the routine postnatal chromosomal microarray ana...

Insight into the mechanisms and consequences of recurrent telomere capture asso...

Utility of trio-based exome sequencing in the elucidation of the genetic basis ...

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain

Detection of small copy number variations (CNVs) in autism spectrum disorder (A...

Made available in DSpace on 2018-11-26T17:55:47Z (GMT). No. of bitstreams: 0 Previous issue date: 2016-03-01; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq); Autism spectrum disorder (ASD) has a strong genetic basis and advances in genomic scanning methods have resulted in the identification of the underlying alterations in abo...

Insight into the mechanisms and consequences of recurrent telomere capture asso...

Made available in DSpace on 2018-11-26T16:04:56Z (GMT). No. of bitstreams: 0 Previous issue date: 2018-09-01; Brazilian National Council for Scientific and Technological Development; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); A complex mosaicism of the short arm of chromosome 1 detected by SNP microarray analysis is described in a patient presenting a 4-Mb 1p36 terminal deletion and associat...

Efficient detection of chromosome imbalances and single nucleotide variants usi...

Does increase in genomic microarray resolution result in increased diagnostic y...

Large germline copy number variations as predisposing factor in childhood neopl...