Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. - Wikidata - awgldk - TriplyDB

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

http://www.wikidata.org/entity/Q37201006

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Mechanisms of change in gene copy number Non-B DB v2.0: a database of predicted non-B DNA-forming motifs and its associated tools Non-B DB: a database of predicted non-B DNA-forming motifs in mammalian genomes Mechanisms underlying structural variant formation in genomic disorders MECP2 disorders: from the clinic to mice and back Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Major influence of repetitive elements on disease-associated copy number variants (CNVs)Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.Interaction-based evolution: how natural selection and nonrandom mutation work together Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.Characterizing complex structural variation in germline and somatic genomes Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome Clinical impacts of genomic copy number gains at Xq28 Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS Chimeric transcripts resulting from complex duplications in chromosome Xq28 Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Copy number variation in human health, disease, and evolution.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.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 Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.Complex human chromosomal and genomic rearrangements.Altered neuronal network and rescue in a human MECP2 duplication model.

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Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

http://www.wikidata.org/entity/Q37201006

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 26 March 2009

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Complex rearrangements in pati ...... alling and template switching.

@en

Complex rearrangements in pati ...... alling and template switching.

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type

label

Complex rearrangements in pati ...... alling and template switching.

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Complex rearrangements in pati ...... alling and template switching.

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Complex rearrangements in pati ...... alling and template switching.

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Complex rearrangements in pati ...... alling and template switching.

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Human Molecular Genetics

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Complex rearrangements in pati ...... alling and template switching.

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Amber Pursley

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

Angela M Vianna-Morgante

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

Ankita Patel

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Carlos A Bacino

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Claudia M B Carvalho

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Ewa Obersztyn

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James R Lupski

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Magdalena Nawara

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Melissa B Ramocki

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Pawel Stankiewicz

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Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

CNV and nervous system diseases--what's new?

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

Emerin deletions occurring on both Xq28 inversion backgrounds

Lamin B1 duplications cause autosomal dominant leukodystrophy

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

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2188-2203

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scholarly article

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10.1093/HMG/DDP151

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12

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18

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2009-03-26T00:00:00Z

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24237635

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19324899

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2685756

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