Three patients with ring (X) chromosomes and a severe phenotype.
about
Coarctation of the aorta in Kabuki syndromeDeletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndromeKDM6A point mutations cause Kabuki syndromeThe C20orf133 gene is disrupted in a patient with Kabuki syndromeMicrosatellite analysis in Turner syndrome: Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomesA comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.Asymmetry and skin pigmentary anomalies in chromosome mosaicismMolecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivationKabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.A familial Xp+ chromosome, dup (Xq26.3-->qter).Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.Social, communicational, and behavioral deficits associated with ring X turner syndrome.Congenital heart defects in Kabuki syndrome.Unmasking Kabuki syndrome.Mitotic misbehavior of a Drosophila melanogaster satellite in ring chromosomes: insights into intragenomic conflict among heterochromatic sequences.The C20orf133 gene is disrupted in a patient with Kabuki syndrome.Molecular biology of Turner's syndrome.Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic associationSmall marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlationsThe severe phenotype of females with tiny ring X chromosomes is associated with inability of these chromosomes to undergo X inactivation.Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome.Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis.Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.X chromosome inactivation and X-linked mental retardation.Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature.A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.Further delineation of Kabuki syndrome in 48 well-defined new individuals.Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.
P2860
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P2860
Three patients with ring (X) chromosomes and a severe phenotype.
description
1993 nî lūn-bûn
@nan
1993 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Three patients with ring (X) chromosomes and a severe phenotype.
@ast
Three patients with ring (X) chromosomes and a severe phenotype.
@en
type
label
Three patients with ring (X) chromosomes and a severe phenotype.
@ast
Three patients with ring (X) chromosomes and a severe phenotype.
@en
prefLabel
Three patients with ring (X) chromosomes and a severe phenotype.
@ast
Three patients with ring (X) chromosomes and a severe phenotype.
@en
P2093
P2860
P356
P1476
Three patients with ring (X) chromosomes and a severe phenotype.
@en
P2093
P2860
P304
P356
10.1136/JMG.30.6.482
P407
P577
1993-06-01T00:00:00Z