Report of the committee on the genetic constitution of the X chromosome.
about
Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouseNance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysisGenetic counseling in rare syndromes: a resampling method for determining an approximate confidence interval for gene location with linkage data from a single pedigree.In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNAA 1.6-Mb contig of yeast artificial chromosomes around the human factor VIII gene reveals three regions homologous to probes for the DXS115 locus and two for the DXYS64 locus.X/Y translocations resulting from recombination between homologous sequences on Xp and Yq.Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome.Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.Linkage studies and deletion screening in choroideremiaX-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings.A polymorphic dinucleotide repeat at the DXS7 locus.Dinucleotide repeat polymorphism at the PGK1P1 locusExamination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysisAphidicolin-inducible common fragile-site expression: results from a population survey of twins.Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints.Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndromeMapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formationGerm-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.Genetic mapping of two new DNA markers in Xq26-q28 relative to the fragile-X syndrome locusLocalization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosaLocalization of a gene that escapes inactivation to the X chromosome proximal short arm: implications for X inactivation.Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26)Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Genetic study of a new X-linked recessive immunodeficiency syndromePolymorphic dinucleotide repeat at the DXS3 locusX chromosome inactivation of the human TIMP gene.Dinucleotide repeat polymorphism at the DXYS1X locus.Dinucleotide repeat polymorphism at the PGK1 locusAdvances and retreats in the molecular genetics of major mental illness.X-linked megalocornea. Ocular findings and linkage analysis.
P2860
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P2860
Report of the committee on the genetic constitution of the X chromosome.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh
1989年學術文章
@zh-hant
name
Report of the committee on the genetic constitution of the X chromosome.
@en
type
label
Report of the committee on the genetic constitution of the X chromosome.
@en
prefLabel
Report of the committee on the genetic constitution of the X chromosome.
@en
P2093
P356
P1476
Report of the committee on the genetic constitution of the X chromosome.
@en
P2093
P304
P356
10.1159/000132801
P577
1989-01-01T00:00:00Z