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Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation
(WILEY-LISS, 2010)
ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests ...
Inflammatory breast cancer: Clinical implications of genomic alterations and mutational profiling
(2020-10-01)
Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer whose molecular basis is poorly understood. We performed a comprehensive molecular analysis of 24 IBC biopsies naïve of treatment, using a ...
Pure duplication 21q21.2?qter due to a rea(21) in a down syndrome girl. Remarks on nomenclature
(2012)
We report on an 8-year-old girl with a typical Down syndrome phenotype and a 46,XX,rea(21)(qter?p12::q21.2?qter).ish rea(21)(qter?p12::q21. 2?qter)(LSI 21++,AML1++) karyotype; the mother had normal chromosomes but the ...
Pure duplication 21q21.2→qter due to a rea(21) in a down syndrome girl. Remarks on nomenclature
(2012)
We report on an 8-year-old girl with a typical Down syndrome phenotype and a 46,XX,rea(21)(qter→p12::q21.2→qter).ish rea(21)(qter→p12::q21. 2→qter)(LSI 21++,AML1++) karyotype; the mother had normal chromosomes but the ...
Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil
(Universidade Estadual Paulista (Unesp), 2014-12-12)
The Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by various physical abnormalities, including facial dimorphisms, cardiovascular abnormalities, intellectual disability and growth characteristic ...
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
(2018)
Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although ...
Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil
(Universidade Estadual Paulista (UNESP), 2015)
Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil
(Universidade Estadual Paulista (Unesp), 2015)