Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.
about
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in humanRefinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication clusterA necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologuesRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications.Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosageRearrangements of chromosome 15 in epilepsy.Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexityThree supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.Pervasive developmental disorders and GABAergic system in patients with inverted duplicated chromosome 15.Mild generalized epilepsy and developmental disorder associated with large inv dup(15).A family with a grand-maternally derived interstitial duplication of proximal 15q.The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings.Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: genotype-phenotype correlations.
P2860
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P2860
Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@ast
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@en
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@nl
type
label
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@ast
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@en
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@nl
prefLabel
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@ast
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@en
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@nl
P2093
P2860
P356
P1476
Molecular cytogenetic evidence ...... duplications of chromosome 15.
@en
P2093
A E Wandstrat
J Leana-Cox
S Schwartz
P2860
P304
P356
10.1086/301777
P407
P577
1998-04-01T00:00:00Z