9 documents found, page 1 of 1

X-linked intellectual disability related genes disrupted by balanced X-autosome...

Made available in DSpace on 2022-04-29T07:26:31Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-12-01; Detailed molecular characterization of chromosomal rearrangements involving X-chromosome has been a key strategy in identifying X-linked intellectual disability-causing genes. We fine-mapped the breakpoints in four women with balanced X-autosome translocations and variable phenotypes, in order to invest...

Spread of X-chromosome inactivation into autosomal regions in patients with unb...

Made available in DSpace on 2021-06-25T11:57:30Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-04-29; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Patients with unbalanced X-autosome translocations are rare and usually present a skewed X-chromosome inactivation (XCI) pattern, with the derivative chromosome being prefe...

X chromosome inactivation spread into autosomal sequences replication timing an...

Made available in DSpace on 2019-10-04T12:14:38Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-07-05; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Unifesp Univ Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo, Brazil; Unesp Univ Estado Sao Paulo, Dept Genet, Sao Paulo, Brazil; Unesp Univ Estado Sao Paulo, Dept Genet, Sao Paulo, Brazil

Incorporation of 5-ethynyl-2'-deoxyuridine (EdU) as a novel strategy for identi...

Made available in DSpace on 2018-11-26T16:19:15Z (GMT). No. of bitstreams: 0 Previous issue date: 2016-02-01; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); X-chromosome inactivation occurs randomly in normal female cells. However, the inactivation can be skewed in patients with alterations in X-chromosome. In balanced X-autosome translocations, normal X is preferentially inactivated, while in u...

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay...

OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amp...

Clinical, cytogenetic, and molecular characterization of six patients with ring...

Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival

Texto completo: acesso restrito. p.2074–2078; Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-08-23T12:59:51Z No. of bitstreams: 1 Acácia Carvalho.pdf: 175934 bytes, checksum: 549fddc9814df418d5e77e39f0b6408c (MD5); Approved for entry into archive by Alda Lima da Silva(sivalda@ufba.br) on 2013-08-23T22:04:48Z (GMT) No. of bitstreams: 1 Acácia Carvalho.pdf: 175934 bytes, checksum: 549fddc9814df418d5e77e...

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13....

Acesso restrito: Texto completo. p. 387-392; Submitted by JURANDI DE SOUZA SILVA (jssufba@hotmail.com) on 2012-05-30T20:19:56Z No. of bitstreams: 1 __www.springerlink.com_c...m7m448484u0r3465_fulltext.pdf: 204837 bytes, checksum: d481671a32b0101c166e94d90e2c5a17 (MD5); Made available in DSpace on 2012-05-30T20:19:56Z (GMT). No. of bitstreams: 1 __www.springerlink.com_c...m7m448484u0r3465_fulltext.pdf: 204837 by...

Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses Wit...