Molecular cytogenetics: toward dissection of the contiguous gene syndromes

Molecular cytogenetics: toward dissection of the contiguous gene syndromes

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http://www.wikidata.org/entity/Q42041694
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosomeNance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysisAn Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometryMendelian cytogenetics. Chromosome rearrangements associated with mendelian disordersMolecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.Segregation analysis of Alagille syndrome.Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.Norrie disease gene is distinct from the monoamine oxidase genes.Parental origin of de novo constitutional deletions of chromosomal band 11p13The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis.Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.CATCH 22.Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).
P2860

Molecular cytogenetics: toward dissection of the contiguous gene syndromes

Item
http://www.wikidata.org/entity/Q42041694
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1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
Molecular cytogenetics: toward dissection of the contiguous gene syndromes
@en
Molecular cytogenetics: toward dissection of the contiguous gene syndromes
@nl
type
label
Molecular cytogenetics: toward dissection of the contiguous gene syndromes
@en
Molecular cytogenetics: toward dissection of the contiguous gene syndromes
@nl
prefLabel
Molecular cytogenetics: toward dissection of the contiguous gene syndromes
@en
Molecular cytogenetics: toward dissection of the contiguous gene syndromes
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Molecular cytogenetics: toward dissection of the contiguous gene syndromes
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932