Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. - Wikidata - wikimedia - TriplyDB

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

http://www.wikidata.org/entity/Q34990719

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Mechanisms underlying structural variant formation in genomic disorders Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression What drives recombination hotspots to repeat DNA in humans?A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Etiologies and molecular mechanisms of communication disorders.Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Comment on "genomic hypomethylation in the human germline associates with selective structural mutability in the human genome"Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.Detection of clinically relevant exonic copy-number changes by array CGH.Tandem repeats and G-rich sequences are enriched at human CNV breakpoints Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Structural variation of the human genome: mechanisms, assays, and role in male infertility Submicroscopic deletions at 13q32.1 cause congenital microcoria.Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.Hydroxyurea induces de novo copy number variants in human cells.The contribution of alu elements to mutagenic DNA double-strand break repair.Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.A recurrent translocation is mediated by homologous recombination between HERV-H elements.Mechanisms for recurrent and complex human genomic rearrangements.Chromosomal Translocations in the Parasite Leishmania by a MRE11/RAD50-Independent Microhomology-Mediated End Joining Mechanism Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation Mechanisms for Complex Chromosomal Insertions.Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence.Discovery and characterization of Alu repeat sequences via precise local read assembly.Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements.Copy number variation in patients with cervical artery dissection.

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P2860

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

http://www.wikidata.org/entity/Q34990719

description

2009 nî lūn-bûn

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2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2009 թվականի հուլիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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name

Rare pathogenic microdeletions ...... by local genomic architecture.

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Rare pathogenic microdeletions ...... by local genomic architecture.

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Rare pathogenic microdeletions ...... by local genomic architecture.

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type

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Rare pathogenic microdeletions ...... by local genomic architecture.

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Rare pathogenic microdeletions ...... by local genomic architecture.

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Rare pathogenic microdeletions ...... by local genomic architecture.

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Rare pathogenic microdeletions ...... by local genomic architecture.

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Rare pathogenic microdeletions ...... by local genomic architecture.

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Rare pathogenic microdeletions ...... by local genomic architecture.

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Human Molecular Genetics

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Rare pathogenic microdeletions ...... by local genomic architecture.

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P2093

Ad Geurts van Kessel

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Barbara Wisniowiecka-Kowalnik

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Bert B A de Vries

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Han G Brunner

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Irene M Janssen

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Katarzyna Derwinska

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Lisenka E L M Vissers

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Marta Smyk

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Monika Nesteruk

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Pawel Stankiewicz

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P2860

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Mechanisms of change in gene copy number

Mapping and sequencing of structural variation from eight human genomes

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

A novel gene, Translin, encodes a recombination hotspot binding protein associated with chromosomal translocations

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Paired-end mapping reveals extensive structural variation in the human genome

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Global variation in copy number in the human genome

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3579-3593

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10.1093/HMG/DDP306

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19

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18

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Adrianus Henricus Maria Geurts van Kessel

Christian Gilissen

Joris A Veltman

Alexander Hoischen

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2009-07-03T00:00:00Z

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26648041

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19578123

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