(Q34389940)

English

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

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1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

0 references

Pelizaeus-Merzbacher disease

1 reference

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inferred from title

author name string

Mimault C

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Giraud G

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Courtois V

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Cailloux F

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Boire JY

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Dastugue B

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Boespflug-Tanguy O

7

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Europe PubMed Central

PubMed publication ID

1 August 2017

language of work or name

0 references

publication date

1 August 1999

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Europe PubMed Central

PubMed publication ID

1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

1 August 2017

65

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Europe PubMed Central

PubMed publication ID

1 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

360-369

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

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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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Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

1 reference

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The factor IX gene as a model for analysis of human germline mutations: an update

1 reference

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Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

1 reference

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Exclusive paternal origin of new mutations in Apert syndrome

1 reference

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

1 reference

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Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

1 reference

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

1 reference

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Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation

1 reference

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

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On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

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=1377935

6 July 2018

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

1 reference

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6 July 2018

A rapid method for the purification of DNA from blood

1 reference

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6 July 2018

Pelizaeus-Merzbacher disease: clinical and nosological study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

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=1377935

6 July 2018

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

6 July 2018

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

6 July 2018

MSP RFLP for X-linked proteolipid protein gene (PLP) identified with either rat or human PLP cDNA clone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

6 July 2018

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

6 July 2018

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

6 July 2018

Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

6 July 2018

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

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=1377935

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=1377935

6 July 2018

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

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On the parental origin of de novo mutation in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

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Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD)

1 reference

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Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

6 July 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=1377935

27 October 2018

7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.

1 reference

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

1 reference

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27 October 2018

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377935

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Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

1 reference

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27 October 2018

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/10417279

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/10417279

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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