Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 (Q36314829)

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scientific article published on June 20, 2011

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English	Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22	scientific article published on June 20, 2011

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Europe PubMed Central

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13 August 2017

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 (English)

1 reference

10.1111/J.1399-0004.2011.01716.X

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

3 December 2024

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J. Shen

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3 December 2024

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C. M B. Carvalho

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M. Bartnik

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3 December 2024

D. Pehlivan

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P. Fang

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J. R. Lupski

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3 December 2024

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20 June 2011

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13 August 2017

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3 December 2024

https://europepmc.org/articles/PMC3470482

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3 December 2024

https://europepmc.org/articles/PMC3470482?pdf=render

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Europe PubMed Central

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21623770

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https://doi.org/10.1111/j.1399-0004.2011.01716.x

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https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111/j.1399-0004.2011.01716.x

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10.1111/J.1399-0004.2011.01716.X

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

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https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2011.01716.x

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10.1111/J.1399-0004.2011.01716.X

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

3 December 2024

Clinical Genetics

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Europe PubMed Central

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13 August 2017

81

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PRPS1 mutations: four distinct syndromes and potential treatment.

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Mechanisms of change in gene copy number

1 reference

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30 September 2017

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

1 reference

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30 September 2017

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

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30 September 2017

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

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30 September 2017

The mechanism of human nonhomologous DNA end joining

1 reference

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30 September 2017

Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike

1 reference

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30 September 2017

Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470482

30 September 2017

Quantifying the carrier female phenotype 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=3470482

30 September 2017

On the mechanism of gene amplification induced under stress in Escherichia coli

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470482

30 September 2017

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470482

30 September 2017

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=3470482

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470482

30 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=3470482

30 September 2017

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=3470482

30 September 2017

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

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

21 January 2018

Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X.

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

21 January 2018

Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

21 January 2018

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

21 January 2018

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis.

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

21 January 2018

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

21 January 2018

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

21 January 2018

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3470482

22 September 2018

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

21 January 2018

DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: Further refinement using pulsed-field gel electrophoresis

1 reference

https://api.crossref.org/works/10.1111/J.1399-0004.2011.01716.X

21 January 2018

X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/21623770

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/21623770

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1

1 reference

https://pubmed.ncbi.nlm.nih.gov/21623770

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21623770

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1399-0004.2011.01716.X

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

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