Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases.
about
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationMendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersSex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers.A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).A familial Xp+ chromosome, dup (Xq26.3-->qter).Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.The causes and consequences of random and non-random X chromosome inactivation in humans.Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.The molecular biology of Norrie's disease.X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.Neocentromere formation in a stable ring 1p32-p36.1 chromosome.Heritability of X chromosome--inactivation phenotype in a large family.X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlationsFunctional disomy of the Xq28 chromosome region.Autism spectrum disorder in a girl with a de novo x;19 balanced translocationCytogenetic abnormalities in 222 infertile men with azoospermia and oligospermia in Iran: Report and review.Clinical correlation between premature ovarian failure and a chromosomal anomaly in a 22-year-old Caucasian woman: a case report.Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation.Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.Distal Xq duplication and functional Xq disomy.The incidence and type of chromosomal translocations from prenatal diagnosis of 3800 patients in the republic of macedonia.X-chromosome inactivation: molecular mechanisms from the human perspective.Are some chromosomes particularly good at sex? Insights from amniotes.Synaptic pattern of sex complements and sperm head malformation in X-autosome translocation carrier bulls.Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.X chromosome inactivation and X-linked mental retardation.Disruption of HDX gene in premature ovarian failure.A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report.Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype.Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.Atypical X-chromosome inactivation in an X;1 translocation patient demonstrating Xq28 functional disomy.Human X chromosome inactivation and reactivation: implications for cell reprogramming and disease.
P2860
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P2860
Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Functional disomies of the X c ...... ations: a review of 122 cases.
@en
type
label
Functional disomies of the X c ...... ations: a review of 122 cases.
@en
prefLabel
Functional disomies of the X c ...... ations: a review of 122 cases.
@en
P356
P1476
Functional disomies of the X c ...... ations: a review of 122 cases.
@en
P2093
P304
P356
10.1002/AJMG.1320420205
P577
1992-01-01T00:00:00Z