(Q34141813)

31 July 2017

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

1 reference

Pelizaeus-Merzbacher disease

31 July 2017

1 reference

M E Hodes

1

1 reference

31 July 2017

K Woodward

2

1 reference

31 July 2017

N B Spinner

3

1 reference

31 July 2017

B S Emanuel

4

1 reference

31 July 2017

A Enrico-Simon

5

1 reference

31 July 2017

J Kamholz

6

1 reference

31 July 2017

D Stambolian

7

1 reference

31 July 2017

E H Zackai

8

1 reference

31 July 2017

V M Pratt

9

1 reference

31 July 2017

I T Thomas

10

1 reference

31 July 2017

K Crandall

11

1 reference

31 July 2017

S R Dlouhy

12

1 reference

31 July 2017

S Malcolm

13

1 reference

31 July 2017

language of work or name

English

0 references

publication date

25 May 2000

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

67

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31 July 2017

1

1 reference

31 July 2017

14-22

1 reference

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Genetics of Pelizaeus-Merzbacher disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287072

Mobile elements and disease

28 October 2018

1 reference

12 December 2020

Position effect in human genetic disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

1 reference

12 December 2020

Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication

1 reference

12 December 2020

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

1 reference

12 December 2020

MvaI polymorphism in the proteolipid protein (PLP) gene

1 reference

12 December 2020

Identifiers

DOI

10.1086/302965

1 reference

31 July 2017

1 reference

31 July 2017

1 reference