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Phenotype–genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation
(Wiley Blackwell Publishing, Inc, 2015-04)
Background: The recessive X-linked disorder hemophilia A (HA) is rarely expressed in female carriers, most of whom express about half of normal factor VIII activity (FVIII:C). Objective: To propose an integrative assessment ...
Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: A familial case report and review of the literature.
(Expansion Sci Francaise, 1998-01-01)
A three generation familial translocation (X;15)(p22;p11) is responsible for duplication (X)(pter-->p22) in two male and two female patients, It is present in a balanced state in the mothers and with the derivative chromosome ...
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
(BioMed Central, 2009)
Allele-Specific Expression of the MAOA Gene and X Chromosome Inactivation in In Vitro Produced Bovine Embryos
(WILEY-LISS, 2010)
During embryogenesis, one of the two X chromosomes is inactivated in embryos. The production of embryos in vitro may affect epigenetic mechanisms that could alter the expression of genes related to embryo development and ...
Alterações estruturais envolvendo o cromossomo x: impacto da inativação preferencial no fenótipo dos pacientes
(Universidade Federal de São Paulo (UNIFESP), 2016-01-07)
X-chromosome rearrangements are usually associated with distinct X inactivation patterns, which can influence in patient?s phenotype. To better understand the mechanisms involved in cell selection and the clinical consequences ...
DISCORDANCE FOR RETINITIS PIGMENTOSA IN TWO MONOZYGOTIC TWIN PAIRS
(LIPPINCOTT WILLIAMS & WILKINS, 2011)
Background: Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with progressive degeneration of the retina. The condition can be inherited as an autosomal dominant, autosomal recessive, and X-linked ...
Loss of DNMT1o disrupts imprinted X chromosome inactivation and accentuates placental defects in females.
(Public Library Science, 2013-11-21)
The maintenance of key germline derived DNA methylation patterns during preimplantation development depends on stores of DNA cytosine methyltransferase-1o (DNMT1o) provided by the oocyte. Dnmt1o(mat-/-) mouse embryos born ...