(Q57537928)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16774974%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

title

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16774974%20AND%20SRC:MED&resulttype=core&format=json

Pelizaeus-Merzbacher disease

30 January 2020

main subject

1 reference

4

1 reference

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30 January 2020

6

James R Lupski

1 reference

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30 January 2020

5

Pawel Stankiewicz

1 reference

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30 January 2020

author name string

Ken Inoue

series ordinal

2

1 reference

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30 January 2020

Jennifer A Lee

series ordinal

1

1 reference

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30 January 2020

Sau W Cheung

series ordinal

3

1 reference

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30 January 2020

publication date

14 June 2006

1 reference

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30 January 2020

published in

Human Molecular Genetics

1 reference

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30 January 2020

volume

15

1 reference

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30 January 2020

page(s)

2250-2265

1 reference

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30 January 2020

issue

14

1 reference

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Genome architecture, rearrangements and genomic disorders

30 January 2020

cites work

1 reference

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

21 January 2018

1 reference

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The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

21 January 2018

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 January 2018

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A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

21 January 2018

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Natural history of Williams syndrome: physical characteristics

21 January 2018

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Molecular mechanisms for genomic disorders

21 January 2018

1 reference

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The molecular pathogenesis of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

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Genetics of Pelizaeus-Merzbacher disease

21 January 2018

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21 January 2018

1 reference

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Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

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The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome

21 January 2018

1 reference

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Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

21 January 2018

1 reference

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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

21 January 2018

1 reference

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Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

21 January 2018

1 reference

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

21 January 2018

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Genome architecture catalyzes nonrecurrent chromosomal rearrangements

21 January 2018

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The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

21 January 2018

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Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

21 January 2018

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Serial segmental duplications during primate evolution result in complex human genome architecture

21 January 2018

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Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.

21 January 2018

1 reference

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Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

21 January 2018

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Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

21 January 2018

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Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

21 January 2018

1 reference

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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 Brain

21 January 2018

1 reference

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Tandem duplications of the lac region of the Escherichia coli chromosome

21 January 2018

1 reference

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Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL150

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL150

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

21 January 2018

1 reference

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Masquerading repeats: paralogous pitfalls of the human genome

21 January 2018

1 reference

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Sister chromatid gene conversion is a prominent double-strand break repair pathway in mammalian cells

21 January 2018

1 reference

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Coupled homologous and nonhomologous repair of a double-strand break preserves genomic integrity in mammalian cells

21 January 2018

1 reference

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BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

21 January 2018

1 reference

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The human genome browser at UCSC

21 January 2018

1 reference

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21 January 2018

1 reference

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDL150

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16774974%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference