Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q
about
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsSegmental duplications and copy-number variation in the human genome.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.Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.Directly transmitted unbalanced chromosome abnormalities and euchromatic variantsAn assessment of the sequence gaps: unfinished business in a finished human genome.The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions.Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.Chromosome abnormalities without phenotypic consequences.Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs.The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13.Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH.Molecular evolution of the human chromosome 15 pericentromeric region.
P2860
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P2860
Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q
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2002年の論文
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Organisation of the pericentro ...... a proximal duplication of 15q
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Organisation of the pericentro ...... a proximal duplication of 15q
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Organisation of the pericentro ...... a proximal duplication of 15q
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Organisation of the pericentro ...... a proximal duplication of 15q
@en
prefLabel
Organisation of the pericentro ...... a proximal duplication of 15q
@ast
Organisation of the pericentro ...... a proximal duplication of 15q
@en
P2093
P2860
P356
P1476
Organisation of the pericentro ...... a proximal duplication of 15q
@en
P2093
D H Ledbetter
J A Fantes
R S K Chaganti
S K Mewborn
S L Christian
P2860
P304
P356
10.1136/JMG.39.3.170
P407
P577
2002-03-01T00:00:00Z