(Q36854150)

English

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.

scientific article published on April 2008

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

0 references

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

gene duplication

1 reference

based on heuristic

inferred from title

Pelizaeus-Merzbacher disease

1 reference

based on heuristic

inferred from title

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Sei Joo Kim

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Joon Shik Yoon

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Hye Jin Baek

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Sook Young Bae

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Hyun-Jung Cho

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

1 April 2008

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Journal of Korean Medical Science

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

23

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

328-331

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

copyright license

Creative Commons Attribution-NonCommercial 3.0 Unported

1 January 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

29 September 2017

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

29 September 2017

MLPA and MAPH: new techniques for detection of gene deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

29 September 2017

Concepts of myelin and myelination in neuroradiology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

29 September 2017

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=2526427

29 September 2017

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

4 September 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

4 September 2018

Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

4 September 2018

Clinical findings in Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2526427

4 September 2018

Duplication of the proteolipid protein gene is the 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=2526427

4 September 2018

Genome profiling of melanocytic tumors using multiplex ligation-dependent probe amplification (MLPA): Its usefulness as an adjunctive diagnostic tool for melanocytic tumors

1 reference

https://pubmed.ncbi.nlm.nih.gov/18437021

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/18437021

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18437021

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3346/JKMS.2008.23.2.328

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18437021%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

ResearchGate publication ID

0 references

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