Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.
about
Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same geneLower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplicationsExon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.High-resolution diffusion tensor imaging of fixed brain in a mouse model of Pelizaeus-Merzbacher disease: comparison with quantitative measures of white matter pathology.Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.Breaking away from home.Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.CNS myelination and PLP gene dosage.Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainDisorders caused by chromosome abnormalities.Prenatal diagnosis of Pelizaeus-Merzbacher disease.Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor geneHigh frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher diseaseA microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesProgesterone antagonist therapy in a Pelizaeus-Merzbacher mouse model.The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells.Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations.Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
P2860
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P2860
Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Pelizaeus-Merzbacher disease: ...... reakpoints by interphase FISH.
@ast
Pelizaeus-Merzbacher disease: ...... reakpoints by interphase FISH.
@en
Pelizaeus-Merzbacher disease: ...... reakpoints by interphase FISH.
@nl
type
label
Pelizaeus-Merzbacher disease: ...... reakpoints by interphase FISH.
@ast
Pelizaeus-Merzbacher disease: ...... reakpoints by interphase FISH.
@en
Pelizaeus-Merzbacher disease: ...... reakpoints by interphase FISH.
@nl
prefLabel
Pelizaeus-Merzbacher disease: ...... reakpoints by interphase FISH.
@ast
Pelizaeus-Merzbacher disease: ...... reakpoints by interphase FISH.
@en
Pelizaeus-Merzbacher disease: ...... reakpoints by interphase FISH.
@nl
P2093
P2860
P356
P1476
Pelizaeus-Merzbacher disease: ...... breakpoints by interphase FISH
@en
P2093
P2860
P304
P356
10.1086/301933
P407
P50
P577
1998-07-01T00:00:00Z