about
Primary and secondary transcriptional effects in the developing human Down syndrome brain and heartDown's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation.A case of apparent trisomy 21 without the Down's syndrome phenotype.Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotypeCritical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndromeGenotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR.Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.The distorted shell method for clustering for syndrome classificationMechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.Age- and speed-dependent modulation of gaits in DSCAM2J mutant mice.Diagnosis of Down's syndrome at birth.
P2860
Q21184170-23056322-D625-474C-B827-8C62CC363F8FQ33669486-45BFFCE4-4B38-4DC1-AA09-BD8D33392A0DQ33679179-95EF1E0E-6EF0-464A-88FE-47DD519CF30DQ34172804-064A3602-21E4-44C6-9B17-17448F94AC88Q34294835-A67B2FC0-0B41-43A0-BC00-874A30D33305Q34325983-6D7FAAAF-0726-46CF-A05C-D89A64AED203Q35196333-1E899B9A-CD6D-43AF-858C-7F8DC1F7D82BQ35433154-9E2F38FC-E79E-40A6-B182-3FB7C7FA64C3Q37530232-F30A3263-CCF3-4A95-883F-180D14857568Q39895108-E16001FE-2260-440A-A60B-85D17BB8434CQ40545080-379354B2-747A-4DCA-8419-44EF2BB44001Q52838083-436DA278-F742-410D-BB13-D22CCBECB5A4Q55407005-85E507A5-3901-44E9-853A-C395A7341D22
P2860
description
1976 nî lūn-bûn
@nan
1976年の論文
@ja
1976年学术文章
@wuu
1976年学术文章
@zh-cn
1976年学术文章
@zh-hans
1976年学术文章
@zh-my
1976年学术文章
@zh-sg
1976年學術文章
@yue
1976年學術文章
@zh
1976年學術文章
@zh-hant
name
Clinical diagnosis of Down's syndrome.
@en
Clinical diagnosis of Down's syndrome.
@nl
type
label
Clinical diagnosis of Down's syndrome.
@en
Clinical diagnosis of Down's syndrome.
@nl
prefLabel
Clinical diagnosis of Down's syndrome.
@en
Clinical diagnosis of Down's syndrome.
@nl
P2093
P1433
P1476
Clinical diagnosis of Down's syndrome.
@en
P2093
Jackson JF
North ER 3rd
P304
P577
1976-05-01T00:00:00Z