Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
about
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresMultiple forms of atypical rearrangements generating supernumerary derivative chromosome 15Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3Identification 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 dupliconsIdentification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting controlThe 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 humanComprehensive genome sequence analysis of a breast cancer ampliconRefinement 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 orthologuesGenetics of Prader-Willi syndrome and Prader-Will-Like syndromeMolecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionChromosome imbalances associated with epilepsyStructures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Functional characterization of NIPA2, a selective Mg2+ transporterEvolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23The evolutionary origin of human subtelomeric homologies--or where the ends beginThe mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genomeAdditional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.DNM1DN: a new class of paralogous genomic segments (duplicons) with highly conserved copies on chromosomes Y and 15.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionPractice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosageDisruption of the bipartite imprinting center in a family with Angelman syndromeA genomewide screen for autism susceptibility loci.Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) familiesThe role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.CNS myelination and PLP gene dosage.Rearrangements of chromosome 15 in epilepsy.
P2860
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P2860
Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Large genomic duplicons map to ...... chromosome region (15q11-q13).
@ast
Large genomic duplicons map to ...... chromosome region (15q11-q13).
@en
type
label
Large genomic duplicons map to ...... chromosome region (15q11-q13).
@ast
Large genomic duplicons map to ...... chromosome region (15q11-q13).
@en
prefLabel
Large genomic duplicons map to ...... chromosome region (15q11-q13).
@ast
Large genomic duplicons map to ...... chromosome region (15q11-q13).
@en
P2093
P356
P1476
Large genomic duplicons map to ...... chromosome region (15q11-q13).
@en
P2093
Christian SL
Ledbetter DH
Mewborn SK
P304
P356
10.1093/HMG/8.6.1025
P577
1999-06-01T00:00:00Z