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Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. (Q34386264)

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

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12 November 2019

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

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12 November 2019

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Pelizaeus-Merzbacher disease

1 reference

based on heuristic

inferred from title

3

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12 November 2019

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K Woodward

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12 November 2019

E Kendall

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12 November 2019

S Malcolm

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Europe PubMed Central

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12 November 2019

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1 July 1998

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12 November 2019

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American Journal of Human Genetics

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12 November 2019

63

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12 November 2019

1

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Europe PubMed Central

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12 November 2019

207-217

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634530%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

1 reference

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6 July 2018

Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

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

1 reference

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6 July 2018

The phenotypic manifestations of chromosome 17p11.2 duplication

1 reference

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6 July 2018

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

1 reference

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6 July 2018

A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

1 reference

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6 July 2018

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

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6 July 2018

Mapping of RXRB to human chromosome 6p21.3.

1 reference

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6 July 2018

A 6.5-Mb yeast artificial chromosome contig incorporating 33 DNA markers on the human X chromosome at Xq22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

1 reference

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6 July 2018

Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

The proteolipid protein gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Genetics of Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

An improved lymphocyte culture technique: deoxycytidine release of a thymidine block and use of a constant humidity chamber for slide making

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Myelin-deficient rat: a point mutation in exon III (A----C, Thr75----Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

AhaII polymorphism in human X-linked proteolipid protein gene (PLP)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Major Myelin proteolipid: the 4-alpha-helix topology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

6 July 2018

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

28 July 2018

Pelizaeus-Merzbacher-like disease: Exclusion of the proteolipid protein locus and documentation of a new locus on Xq

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

27 October 2018

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

27 October 2018

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

27 October 2018

Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

27 October 2018

Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

27 October 2018

A point mutation in the proteolipid protein gene of the ‘shaking pup’ interrupts oligodendrocyte development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

27 October 2018

A Complete YAC Contig and Cosmid Interval Map Covering the Entirety of Human Xq21.33 to Xq22.3 from DXS3 to DXS287

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

27 October 2018

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377253

9 December 2018

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell death of oligodendrocytes or demyelination induced by overexpression of proteolipid protein depending on expressed gene dosage

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9634530

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://opencitations.net/index/api/v1/citations/10.1212/WNL.50.6.1749

26 September 2025

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12 November 2019

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12 November 2019

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12 November 2019

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