Copy number variation in familial Parkinson disease (Q30431120)

13 October 2017

Copy number variation in familial Parkinson disease (English)

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13 October 2017

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12

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Nathan Pankratz

1

Nathan Pankratz

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Alexandra Dumitriu

Alexandra Dumitriu

2

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Jeanne C Latourelle

Jeanne C Latourelle

5

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Anita L DeStefano

Anita L DeStefano

13

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Richard H Myers

Richard H Myers

11

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James F. Gusella

9

James F Gusella

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ORCID Public Data File 2021

13 October 2017

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Cheryl A. Halter

7

Cheryl Halter

1 reference

13 October 2017

8

Kimberly F Doheny

1 reference

13 October 2017

6

Jemma B Wilk

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PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories

13 October 2017

14

PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories

1 reference

13 October 2017

Kurt N Hetrick

3

1 reference

13 October 2017

Mei Sun

4

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13 October 2017

William C Nichols

10

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13 October 2017

language of work or name

English

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publication date

2 August 2011

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13 October 2017

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13 October 2017

6

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13 October 2017

8

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13 October 2017

e20988

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Creative Commons Attribution 4.0 International

13 October 2017

start time

2 August 2011

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Common variants conferring risk of schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Alpha-synuclein and familial Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

A genome-wide investigation of SNPs and CNVs in schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Genetics of Parkinson disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

PLINK: a tool set for whole-genome association and population-based linkage analyses

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Strong association of de novo copy number mutations with autism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Mutations in DJ-1 are rare in familial Parkinson disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

20 June 2018

Whole-genome genotyping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Structural variation in the human genome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Lewy bodies and parkinsonism in families with parkin mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease

20 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020988

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020988

Absence of previously reported variants in theSCNA (G88C and G209A),NR4A2 (T291D and T245G) and theDJ-1 (T497C) genes in familial Parkinson's disease from theGenePD study

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020988

Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0020988

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149037

Genomewide SNP assay reveals mutations underlying Parkinson disease

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21829596

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0020988

1 reference

13 October 2017

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13 October 2017

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