Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements. - Wikidata - thesis-toulmin - TriplyDB

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

http://www.wikidata.org/entity/Q35200158

about

Stimulation of gross chromosomal rearrangements by the human CEB1 and CEB25 minisatellites in Saccharomyces cerevisiae depends on G-quadruplexes or Cdc13 Mechanisms underlying structural variant formation in genomic disorders Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Pseudoautosomal region 1 length polymorphism in the human population Tandem repeats and G-rich sequences are enriched at human CNV breakpoints 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.Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.Sister chromatid telomere fusions, but not NHEJ-mediated inter-chromosomal telomere fusions, occur independently of DNA ligases 3 and 4.Mouse model implicates GNB3 duplication in a childhood obesity syndrome.Replication stress and mechanisms of CNV formation.Human Structural Variation: Mechanisms of Chromosome Rearrangements.LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition.Terminal 18q deletions are stabilized by neotelomeres Acentric chromosome ends are prone to fusion with functional chromosome ends through a homology-directed rearrangement.Large inverted duplications in the human genome form via a fold-back mechanism.Correlation between frequency of non-allelic homologous recombination and homology properties: evidence from homology-mediated CNV mutations in the human genome.Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families.109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.

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P2860

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

http://www.wikidata.org/entity/Q35200158

description

2011 nî lūn-bûn

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2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հուլիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

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type

label

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

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Human Molecular Genetics

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

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P2093

Anne Dodd

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

Blake C Ballif

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David H Ledbetter

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Jannine D Cody

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Jennifer G Mulle

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Jodi M Jackson

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Karen D Tsuchiya

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Karen E Hermetz

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Lisa G Shaffer

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M Katharine Rudd

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P2860

Mechanisms of change in gene copy number

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

Tandem repeats finder: a program to analyze DNA sequences

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3769-3778

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scholarly article

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10.1093/HMG/DDR293

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19

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20

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Christa Lese Martin

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2011-07-04T00:00:00Z

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51467967

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