(Q37423174)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

review article

3 references

30 April 2021

25 October 2022

Copy Number Variants in Alzheimer's Disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

4 references

25 April 2019

19 June 2019

30 June 2019

14 September 2019

1 reference

14 September 2019

DNA copy number variations

1 reference

30 April 2021

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

author name string

Denis Cuccaro

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Elvira Valeria De Marco

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

Rita Cittadella

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

publication date

1 January 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

Journal of Alzheimer's Disease

23 March 2020

published in

7 references

25 April 2019

19 June 2019

30 June 2019

14 September 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

30 April 2021

25 October 2022

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

page(s)

37-52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 4.0 International

23 March 2020

copyright license

6 references

25 April 2019

19 June 2019

30 June 2019

14 September 2019

30 April 2021

on focus list of Wikimedia project

25 October 2022

ScienceSource

0 references

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Role of common and rare APP DNA sequence variants in Alzheimer disease

23 August 2017

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Analysis of copy number variation in Alzheimer's disease: the NIALOAD/ NCRAD Family Study

23 August 2017

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Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics

23 August 2017

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23 August 2017

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A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease

23 August 2017

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23 August 2017

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Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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Tackling the widespread and critical impact of batch effects in high-throughput data

23 August 2017

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Exome sequencing: the sweet spot before whole genomes

23 August 2017

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Functional impact of global rare copy number variation in autism spectrum disorders

23 August 2017

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Towards a comprehensive structural variation map of an individual human genome

23 August 2017

1 reference

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Dosage sensitivity shapes the evolution of copy-number varied regions.

23 August 2017

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23 August 2017

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Genome-wide scan of copy number variation in late-onset Alzheimer's disease

23 August 2017

1 reference

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Mild cognitive impairment: ten years later

23 August 2017

1 reference

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Sequencing technologies - the next generation

23 August 2017

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Origins and functional impact of copy number variation in the human genome

23 August 2017

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Copy number variations of chromosome 16p13.1 region associated with schizophrenia

23 August 2017

1 reference

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23 August 2017

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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

23 August 2017

1 reference

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Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease.

23 August 2017

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Accurate whole human genome sequencing using reversible terminator chemistry

23 August 2017

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The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP

23 August 2017

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Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

23 August 2017

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

23 August 2017

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Paired-end mapping reveals extensive structural variation in the human genome

23 August 2017

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23 August 2017

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Copy-number variation and association studies of human disease

23 August 2017

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

23 August 2017

1 reference

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Relative impact of nucleotide and copy number variation on gene expression phenotypes

23 August 2017

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Global variation in copy number in the human genome

23 August 2017

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APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

23 August 2017

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Strategies for the detection of copy number and other structural variants in the human genome

23 August 2017

1 reference

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Bias of selection on human copy-number variants

23 August 2017

1 reference

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Role of Genes and Environments for Explaining Alzheimer Disease

23 August 2017

1 reference

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Structural variation in the human genome

23 August 2017

1 reference

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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

23 August 2017

1 reference

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Genome sequencing in microfabricated high-density picolitre reactors

23 August 2017

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The genetic epidemiology of neurodegenerative disease

23 August 2017

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Whole genome DNA copy number changes identified by high density oligonucleotide arrays

23 August 2017

1 reference

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MLPA and MAPH: new techniques for detection of gene deletions

23 August 2017

1 reference

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NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

23 August 2017

1 reference

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

23 August 2017

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Disruption of CREB function in brain leads to neurodegeneration

23 August 2017

1 reference

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Apolipoprotein E isoform-dependent amyloid deposition and neuritic degeneration in a mouse model of Alzheimer's disease

23 August 2017

1 reference

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Measurement of locus copy number by hybridisation with amplifiable probes

23 August 2017

1 reference

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Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

23 August 2017

1 reference

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Organization and evolution of olfactory receptor genes on human chromosome 11

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium

23 August 2017

1 reference

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Real time quantitative PCR

23 August 2017

1 reference

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Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Apolipoprotein E immunoreactivity in cerebral amyloid deposits and neurofibrillary tangles in Alzheimer's disease and kuru plaque amyloid in Creutzfeldt-Jakob disease.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Rare autosomal copy number variations in early-onset familial Alzheimer's disease.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Deletion and duplication screening in the DMD gene using MLPA.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Variable phenotype of Alzheimer's disease with spastic paraparesis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5115612

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27662298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3233/JAD-160469

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27662298%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

PubMed publication ID

27662298

1 reference