Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

Item
http://www.wikidata.org/entity/Q35197105
Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?X inactivation of the FMR1 fragile X mental retardation geneExpression of the disease on female carriers of X-linked lysosomal disorders: a brief review.Androgen receptor CAG repeats, non-random X chromosome inactivation, and loss of heterozygosity at Xq25 in relation to breast cancer riskCharacterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.Heritability of X chromosome--inactivation phenotype in a large family.Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others.Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional studyMicrodeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.Reply to Migeon.
P2860

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

Item
http://www.wikidata.org/entity/Q35197105
description
1991 nî lūn-bûn
@nan
1991 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Hunter disease (mucopolysaccha ...... n a karyotypically normal girl
@ast
Hunter disease (mucopolysaccha ...... n a karyotypically normal girl
@en
type
label
Hunter disease (mucopolysaccha ...... n a karyotypically normal girl
@ast
Hunter disease (mucopolysaccha ...... n a karyotypically normal girl
@en
prefLabel
Hunter disease (mucopolysaccha ...... n a karyotypically normal girl
@ast
Hunter disease (mucopolysaccha ...... n a karyotypically normal girl
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Hunter disease (mucopolysaccha ...... n a karyotypically normal girl
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932