Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
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Mechanisms of change in gene copy numberCNV and nervous system diseases--what's new?GDF6, a novel locus for a spectrum of ocular developmental anomaliesCharacterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeMajor influence of repetitive elements on disease-associated copy number variants (CNVs)Interaction-based evolution: how natural selection and nonrandom mutation work togetherCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGenome-wide mapping and assembly of structural variant breakpoints in the mouse genomeA microhomology-mediated break-induced replication model for the origin of human copy number variation.Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.Structural variation of the human genome: mechanisms, assays, and role in male infertilityInverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesHigh frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher diseaseEvidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardationReplicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.Mechanisms for human genomic rearrangementsGait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication.Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.The challenges and importance of structural variation detection in livestockOrigins and breakpoint analyses of copy number variations: up close and personal.Pelizaeus-Merzbacher disease as a chromosomal disorder.Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.Increased N-acetylaspartate in model mouse of Pelizaeus-Merzbacher disease.Sequence analysis of 17 NRXN1 deletions.Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
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Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
description
im Juni 2006 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 14 June 2006
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 2006
@uk
name
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
@en
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
@nl
type
label
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
@en
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
@nl
prefLabel
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
@en
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
@nl
P2093
P2860
P356
P1476
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
@en
P2093
James R Lupski
Jennifer A Lee
Pawel Stankiewicz
Sau W Cheung
P2860
P304
P356
10.1093/HMG/DDL150
P50
P577
2006-06-14T00:00:00Z