(Q81645236)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15827763%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15827763%20AND%20SRC:MED&resulttype=core&format=json

Pelizaeus-Merzbacher disease

10 January 2020

main subject

1 reference

Stefano Regis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15827763%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Serena Grossi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15827763%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Susanna Lualdi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15827763%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Roberta Biancheri

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15827763%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Mirella Filocamo

5

1 reference

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10 January 2020

publication date

13 April 2005

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10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15827763%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

6

1 reference

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10 January 2020

issue

2

1 reference

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10 January 2020

page(s)

73-78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15827763%20AND%20SRC:MED&resulttype=core&format=json

Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR

10 January 2020

cites work

1 reference

12 December 2020

Real time quantitative PCR

1 reference

12 December 2020

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

1 reference

12 December 2020

Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene

1 reference

12 December 2020

Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR

1 reference

12 December 2020

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

1 reference

12 December 2020

The proteolipid protein gene and myelin disorders in man and animal models

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice

1 reference

12 December 2020

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular pathogenesis of Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

1 reference

12 December 2020

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal diagnosis of Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10048-005-0214-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15827763%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference