(Q48686175)

English

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.

scientific article published on 17 January 2006

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scholarly article

1 reference

Europe PubMed Central

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15 January 2020

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16416265%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

5

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15 January 2020

John A.L. Armour

7

1 reference

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15 January 2020

Catherine Vaurs-Barrière

9

1 reference

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15 January 2020

author name string

Patricia Combes

1

1 reference

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15 January 2020

Marie-Noelle Bonnet-Dupeyron

2

1 reference

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15 January 2020

Fernande Gauthier-Barichard

3

1 reference

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15 January 2020

Raphael Schiffmann

4

1 reference

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15 January 2020

Diana Rodriguez

6

1 reference

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15 January 2020

Odile Boespflug-Tanguy

8

1 reference

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15 January 2020

publication date

17 January 2006

1 reference

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15 January 2020

1 reference

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15 January 2020

7

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15 January 2020

1

1 reference

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15 January 2020

31-37

1 reference

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15 January 2020

https://scigraph.springernature.com/pub.10.1007/s10048-005-0021-1

0 references

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-005-0021-1

21 January 2018

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of large CFTR gene rearrangements in Italian CF patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Initiation of translation in prokaryotes and eukaryotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of locus copy number by hybridisation with amplifiable probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of M6: identification of a PLP/DM20 gene family.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple splice isoforms of proteolipid M6B in neurons and oligodendrocytes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An update on the leukodsytrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myelin proteolipid protein (Plp) intron 1 DNA is required to temporally regulate Plp gene expression in the brain.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal mapping of the human M6 genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic imbalances in mental retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Antisilencing: myelin proteolipid protein gene expression in oligodendrocytes is regulated via derepression

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of gene dosage alterations at the PMP22 gene using MAPH.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of a large TBX5 deletion in a family with Holt-Oram syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16416265

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-005-0021-1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16416265%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16416265%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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