Two cases of X/autosome translocation in females with incontinentia pigmenti.
about
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersMapping dysmorphic syndromes with the aid of the human/mouse homology mapX inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophiliaLinear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomaliesTwo 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.A de novo X;13 translocation with abnormal phenotypeIncontinentia pigmenti in a boy with Klinefelter's syndrome.Microdeletion syndromes, balanced translocations, and gene mappingFunctional Xp disomy and de novo t(X;13)(q10;q10) in a girl with hypomelanosis of Ito.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.Hypomelanosis of Ito: clinical syndrome or just phenotype?Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints.Selection against lethal alleles in females heterozygous for incontinentia pigmentiGenes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes.Use of DNA probes for diagnosis and prevention of inherited disorders.Incontinentia pigmenti nomenclature.Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue.
P2860
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P2860
Two cases of X/autosome translocation in females with incontinentia pigmenti.
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年学术文章
@wuu
1985年学术文章
@zh-cn
1985年学术文章
@zh-hans
1985年学术文章
@zh-my
1985年学术文章
@zh-sg
1985年學術文章
@yue
1985年學術文章
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1985年學術文章
@zh-hant
name
Two cases of X/autosome translocation in females with incontinentia pigmenti.
@en
Two cases of X/autosome translocation in females with incontinentia pigmenti.
@nl
type
label
Two cases of X/autosome translocation in females with incontinentia pigmenti.
@en
Two cases of X/autosome translocation in females with incontinentia pigmenti.
@nl
prefLabel
Two cases of X/autosome translocation in females with incontinentia pigmenti.
@en
Two cases of X/autosome translocation in females with incontinentia pigmenti.
@nl
P2093
P356
P1433
P1476
Two cases of X/autosome translocation in females with incontinentia pigmenti.
@en
P2093
P2888
P304
P356
10.1007/BF00284581
P577
1985-01-01T00:00:00Z