Zobrazeno 1 - 10 of 177 pro vyhledávání: '"B R, Migeon"'
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Severe phenotypes associated with inactive ring X chromosomes
Autor: B R, Migeon, M, Ausems, J, Giltay, C, Hasley-Royster, E, Kazi, T J, Lydon, J J, Engelen, G V, Raymond
Publikováno v: American journal of medical genetics. 93(1)
Mental retardation and congenital malformations in individuals with small ring X chromosomes are often due to the functional disomy that results from failure of these chromosomes to undergo X inactivation. Such chromosomes either lack the XIST locus
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::42da1d0ba23aa698521f4bd19540019f
https://pubmed.ncbi.nlm.nih.gov/10861682
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3
The severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation
Autor: B R, Migeon, S, Luo, M, Jani, P, Jeppesen
Publikováno v: American journal of human genetics. 55(3)
Mental retardation and a constellation of congenital malformations not usually associated with Turner syndrome are seen in some females with a mosaic 45,X/46,X,r(X) karyotype. Studies of these females show that the XIST locus on their tiny ring X chr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b101c8850cbd8b258ea197d048fff495
https://pubmed.ncbi.nlm.nih.gov/8079992
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4
Comparison of factor IX methylation on human active and inactive X chromosomes: implications for X inactivation and transcription of tissue-specific genes
Autor: D C Kaslow, P Hubberman, C R Cullen, B R Migeon
Publikováno v: The EMBO Journal. 5:2223-2229
Maintenance of dosage compensation for housekeeping genes on the human X chromosome is mediated through differential methylation of clustered CpG nucleotides associated with these genes. To determine if methylation has a role in maintaining inactivit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39c6de117b4d2389ef31d50cd6f93f98
https://doi.org/10.1002/j.1460-2075.1986.tb04488.x
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9
Some insights into X chromosome inactivation from studies of human cells
Autor: B R, Migeon
Publikováno v: Annales d'endocrinologie. 41(4)
The inactivation of all but one X chromosome in the somatic cells of mammalian females in an important mechanism for regulating X chromosomal genes. Although the molecular basis for the single active X remains to be elucidated, recent studies have pr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8b5e5f5ad21f3ddffc289d695a53a429
https://pubmed.ncbi.nlm.nih.gov/7212635
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10
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease
Autor: U, Francke, J, Felsenstein, S M, Gartler, B R, Migeon, J, Dancis, J E, Seegmiller, F, Bakay, W L, Nyhan
Publikováno v: American journal of human genetics. 28(2)
In a population at equilibrium for a sex-linked lethal, one-third of the genes for that lethal must arise anew each generation. Therefore, one-third of all cases of Lesch-Nyhan disease, a severe X-linked recessive lethal disorder, should be new mutan
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f91da9a3cf01f7e6f41e4e5846dee4e3
https://pubmed.ncbi.nlm.nih.gov/1266847
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