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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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

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scholarly article

1 reference

Europe PubMed Central

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

13 August 2017

Pelizaeus-Merzbacher disease

1 reference

based on heuristic

inferred from title

author name string

C M B Carvalho

1

1 reference

Europe PubMed Central

13 August 2017

M Bartnik

2

1 reference

Europe PubMed Central

13 August 2017

D Pehlivan

3

1 reference

Europe PubMed Central

13 August 2017

P Fang

4

1 reference

Europe PubMed Central

13 August 2017

J Shen

5

1 reference

Europe PubMed Central

13 August 2017

J R Lupski

6

1 reference

Europe PubMed Central

13 August 2017

publication date

20 June 2011

1 reference

Europe PubMed Central

13 August 2017

Clinical Genetics

1 reference

Europe PubMed Central

13 August 2017

81

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Europe PubMed Central

13 August 2017

6

1 reference

Europe PubMed Central

13 August 2017

532-541

1 reference

Europe PubMed Central

13 August 2017

PRPS1 mutations: four distinct syndromes and potential treatment.

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

Mechanisms of change in gene copy number

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

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

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

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

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

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

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

The mechanism of human nonhomologous DNA end joining

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

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

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: 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%2FJ.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%2FJ.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%2FJ.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%2FJ.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%2FJ.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%2FJ.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%2FJ.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%2FJ.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%2FJ.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

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

ResearchGate publication ID

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