Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
about
Investigation of a female manifesting Becker muscular dystrophy.Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?X inactivation patterns in female monozygotic twins and their familiesUneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.Monozygotic twins discordant for Aicardi syndromeExpression of the disease on female carriers of X-linked lysosomal disorders: a brief review.The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.Commitment to X inactivation precedes the twinning event in monochorionic MZ twins.A longitudinal twin study of skewed X chromosome-inactivation.1992 American Society of Human Genetics presidential address: back to the future.Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.Twinning and mitotic crossing-over: some possibilities and their implications.Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.Natural gene therapy in monozygotic twins with Fanconi anemiaDetection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.X chromosome inactivation patterns correlate with fetal-placental anatomy in monozygotic twin pairs: implications for immune relatedness and concordance for autoimmunitySkewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageManifesting heterozygosity in Norrie's disease?DYZ1 arrays show sequence variation between the monozygotic malesGenetic control of X inactivation and processes leading to X-inactivation skewing.Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.Leg muscle MRI in identical twin boys with Duchenne muscular dystrophy.CUGC for Duchenne muscular dystrophy (DMD).
P2860
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P2860
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
description
1990 nî lūn-bûn
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1990 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
@ast
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
@en
type
label
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
@ast
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
@en
prefLabel
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
@ast
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
@en
P2093
P2860
P1476
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
@en
P2093
Cortada JM
Hoffman EP
Milsark IW
Richards CS
Schneider NR
Watkins SC
P2860
P304
P407
P577
1990-04-01T00:00:00Z