A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. - Wikidata - awgldk - TriplyDB

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

http://www.wikidata.org/entity/Q33930829

about

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes An alignment-free method to find and visualise rearrangements between pairs of DNA sequences Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3 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 duplicons 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.Human chromosome 7: DNA sequence and biology Introduction: Williams syndrome Severe 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 haplotype Evolutionary toggling of the MAPT 17q21.31 inversion region Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence Discovery 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 concerns Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23 Segmental duplications and copy-number variation in the human genome.Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome Properties and rates of germline mutations in humans Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23 Genome 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 syndrome The 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 data A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies Identification of copy number variants defining genomic differences among major human groups Nucleotide, 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 architecture From 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 microdeletion Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.

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P2860

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

http://www.wikidata.org/entity/Q33930829

description

2001 nî lūn-bûn

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2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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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

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Nature Genetics

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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome

@en

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A Mandel

http://www.w3.org/2001/XMLSchema#string

B Pober

http://www.w3.org/2001/XMLSchema#string

D Chitayat

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J Bodurtha

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L C Tsui

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L R Osborne

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M Li

http://www.w3.org/2001/XMLSchema#string

S Cox

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T Costa

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T Grebe

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P2860

STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease

A novel human gene FKBP6 is deleted in Williams syndrome

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

PipMaker--a web server for aligning two genomic DNA sequences

Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.

Structure of chromosomal duplicons and their role in mediating human genomic disorders.

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321-325

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10.1038/NG753

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3

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29

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Stephen W. Scherer

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11668342

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11685205

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2889916

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