Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
about
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresMultiple forms of atypical rearrangements generating supernumerary derivative chromosome 15Identification 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 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 orthologuesGenetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes.Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletionsGenetics of Prader-Willi syndrome and Prader-Will-Like syndromeMajor influence of repetitive elements on disease-associated copy number variants (CNVs)Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletionPrader-Willi and Angelman syndromes: sister imprinted disordersSegmental duplications and copy-number variation in the human genome.Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligaseFunctional characterization of NIPA2, a selective Mg2+ transporterThe 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.HECT E3s and human disease.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.Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.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 dosageRare etiology of autosomal recessive disease in a child with noncarrier parents.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 7q11.23High rates of de novo 15q11q13 inversions in human spermatozoa.The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.De novo rates and selection of large copy number variation.Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.Unequal meiotic crossover: a frequent cause of NF1 microdeletions.
P2860
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P2860
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
description
1999 nî lūn-bûn
@nan
1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի օգոստոսին 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
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@ast
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@en
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@nl
type
label
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@ast
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@en
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@nl
prefLabel
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@ast
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@en
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@nl
P2093
P2860
P356
P1476
Chromosome breakage in the Pra ...... oximal and distal breakpoints.
@en
P2093
A E Wandstrat
D J Driscoll
J M Amos-Landgraf
R D Nicholls
S B Cassidy
S Schwartz
W Gottlieb
P2860
P304
P356
10.1086/302510
P407
P577
1999-08-01T00:00:00Z