A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
about
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypesAn alignment-free method to find and visualise rearrangements between pairs of DNA sequencesSubmicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genesThe subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3Identification 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 duplicons3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.Human chromosome 7: DNA sequence and biologyIntroduction: Williams syndromeSevere expressive-language delay related to duplication of the Williams-Beuren locus.CNV and nervous system diseases--what's new?Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotypeEvolutionary toggling of the MAPT 17q21.31 inversion regionAbsence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaGenome-wide detection of segmental duplications and potential assembly errors in the human genome sequenceDiscovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsWilliams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23Segmental duplications and copy-number variation in the human genome.Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndromeProperties and rates of germline mutations in humansEvolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23Genome assembly comparison identifies structural variants in the human genome.Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndromeThe effect of genomic inversions on estimation of population genetic parameters from SNP data.Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour.Evidence for large inversion polymorphisms in the human genome from HapMap dataA palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologiesIdentification of copy number variants defining genomic differences among major human groupsNucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.Characterization of genome-wide segmental duplications reveals a common genomic feature of association with immunity among domestic animals.Expression of the transcription factor, TFII-I, during post-implantation mouse embryonic development.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.Inversion variants in the human genome: role in disease and genome architectureFrom microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletionRearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.
P2860
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P2860
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
description
2001 nî lūn-bûn
@nan
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
@ast
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
@en
type
label
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
@ast
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
@en
prefLabel
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
@ast
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
@en
P2093
P2860
P356
P1433
P1476
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
@en
P2093
D Chitayat
J Bodurtha
L R Osborne
P2860
P2888
P304
P356
10.1038/NG753
P407
P577
2001-11-01T00:00:00Z