Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.
about
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian maleMap of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1)A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardationFamilial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.Monosomy 1p36.Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene clusterChromosomal location and tissue expression of the gene encoding the adenovirus E1A-regulated transcription factor E4F in humans and mice.Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysisMinireview: cryptic translocations and telomere integrityIdentification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16.Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complexClinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3.Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeresAutomated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.Molecular cytogenetic analysis of telomere rearrangements.Regulation of telomere addition at DNA double-strand breaks.Detecting rearrangements in children using subtelomeric FISH and SKY.Detection of a cryptic translocation t(13;20)(q34;p13) in an unexplained case of MCA/MR: value of FISH over high resolution banding.An unbalanced half-cryptic translocation involving the 6q subtelomeric region and 2p25.3 in a child with mental retardation: uses and limitations of fluorescence in situ hybridization.The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16).Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphismsHealing of broken human chromosomes by the addition of telomeric repeatsScreening chromosome ends for learning disabilityDetection of submicroscopic subtelomeric chromosome translocations: a new case study.
P2860
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P2860
Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease.
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
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-hant
name
Detection of breakpoints in su ...... mechanism for genetic disease.
@en
Detection of breakpoints in su ...... mechanism for genetic disease.
@nl
type
label
Detection of breakpoints in su ...... mechanism for genetic disease.
@en
Detection of breakpoints in su ...... mechanism for genetic disease.
@nl
prefLabel
Detection of breakpoints in su ...... mechanism for genetic disease.
@en
Detection of breakpoints in su ...... mechanism for genetic disease.
@nl
P2093
P1433
P1476
Detection of breakpoints in su ...... mechanism for genetic disease.
@en
P2093
D J Weatherall
N J Barton
P C Harris
R H Lindenbaum
S T Reeders
V J Buckle
P304
P356
10.1016/S0140-6736(89)92995-4
P407
P577
1989-10-01T00:00:00Z