Small supernumerary marker chromosomes and uniparental disomy have a story to tell
about
Unrevealed mosaicism in the next-generation sequencing eraCentromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics.Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utilityMultiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II ErrorsMaternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.[Chromosome markers: case report]Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.An Update on Molecular Diagnostic Testing of Human Imprinting Disorders.De novo small supernumerary marker chromosomes detected on 143,000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches.Uniparental disomy and prenatal phenotype: Two case reports and review.Dissecting the phenotype of supernumerary marker chromosome 20 in a patient with syndromic Pierre Robin sequence: combinatorial effect of gene dosage and uniparental disomy.Characterizing small supernumerary marker chromosomes with combination of multiple techniques.
P2860
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P2860
Small supernumerary marker chromosomes and uniparental disomy have a story to tell
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Small supernumerary marker chromosomes and uniparental disomy have a story to tell
@ast
Small supernumerary marker chromosomes and uniparental disomy have a story to tell
@en
type
label
Small supernumerary marker chromosomes and uniparental disomy have a story to tell
@ast
Small supernumerary marker chromosomes and uniparental disomy have a story to tell
@en
prefLabel
Small supernumerary marker chromosomes and uniparental disomy have a story to tell
@ast
Small supernumerary marker chromosomes and uniparental disomy have a story to tell
@en
P2093
P2860
P356
P1476
Small supernumerary marker chromosomes and uniparental disomy have a story to tell
@en
P2093
Ahmed B Hamid
Anja Weise
Elisabeth Ewers
Marina Manvelyan
Martin Voigt
Nadezda Kosyakova
Thomas Liehr
P2860
P304
P356
10.1369/0022155411412780
P577
2011-06-14T00:00:00Z