Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype (Q24633748)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20606400%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20606400%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

3

1 reference

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7 February 2020

Joris A Veltman

4

1 reference

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7 February 2020

author name string

P N Rao

1

1 reference

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7 February 2020

W Li

2

1 reference

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7 February 2020

R A Ophoff

5

1 reference

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7 February 2020

language of work or name

English

0 references

publication date

6 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20606400%20AND%20SRC:MED&resulttype=core&format=json

Cytogenetics and Genome Research

7 February 2020

published in

1 reference

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7 February 2020

volume

129

1 reference

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7 February 2020

issue

4

1 reference

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7 February 2020

page(s)

275-279

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20606400%20AND%20SRC:MED&resulttype=core&format=json

Evolutionary toggling of the MAPT 17q21.31 inversion region

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

A common inversion under selection in Europeans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

Genomic rearrangements and sporadic disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

The H1c haplotype at the MAPT locus is associated with Alzheimer's disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

Genetic evidence for the involvement of tau in progressive supranuclear palsy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3202913

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20606400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20606400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20606400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000315901

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20606400%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20606400%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference