Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.
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Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinismAn Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometryA 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.Linkage analysis of X linked retinitis pigmentosa in the Irish population.Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.Genetic mapping of X linked ocular albinism: linkage analysis in British families.Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophyAnalysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes.Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophyThe screening of Duchenne muscular dystrophy patients for submicroscopic deletions.Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy familiesLinkage studies in Duchenne and Becker muscular dystrophies.Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophyCarrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms.DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.A register based system for gene tracking in Duchenne muscular dystrophy.The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy.The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.Partial gene duplication in Duchenne and Becker muscular dystrophies.Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.Isolation of a sequence which maps close to the human sex determining geneComplete physical map of the human immunoglobulin heavy chain constant region gene complex.Human Xq24-Xq28: approaches to mapping with yeast artificial chromosomes.Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.Variable transfer of Y-specific sequences in XX males.Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling.A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis.Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlationLinkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probesThe X chromosome shows less genetic variation at restriction sites than the autosomes.Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation.DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B familiesPrenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.Linkage relationships and gene order around the locus for X-linked retinoschisis.In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin.Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene
P2860
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P2860
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy.
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
@zh
1985年學術文章
@zh-hant
name
Isolation of probes detecting ...... f Duchenne muscular dystrophy.
@ast
Isolation of probes detecting ...... f Duchenne muscular dystrophy.
@en
type
label
Isolation of probes detecting ...... f Duchenne muscular dystrophy.
@ast
Isolation of probes detecting ...... f Duchenne muscular dystrophy.
@en
prefLabel
Isolation of probes detecting ...... f Duchenne muscular dystrophy.
@ast
Isolation of probes detecting ...... f Duchenne muscular dystrophy.
@en
P2093
P356
P1433
P1476
Isolation of probes detecting ...... f Duchenne muscular dystrophy.
@en
P2093
G J van Ommen
M C Wapenaar
M H Hofker
P L Pearson
P2888
P304
P356
10.1007/BF00273073
P577
1985-01-01T00:00:00Z