Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome. (Q37235193)

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scientific article published on 13 March 2013

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English	Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.	scientific article published on 13 March 2013

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scholarly article

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Europe PubMed Central

PMC publication ID

3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

case report

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title

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome (English)

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Europe PubMed Central

PMC publication ID

3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

main subject

maternal health

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patient

1 reference

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inferred from title

homozygosity

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inferred from title

author

Hidenobu Soejima

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16

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Europe PubMed Central

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

author name string

Ken Higashimoto

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1

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Europe PubMed Central

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

Toshiyuki Maeda

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2

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

Junichiro Okada

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3

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

Yasufumi Ohtsuka

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4

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

Kensaku Sasaki

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5

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

Akiko Hirose

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6

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3798850

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25 February 2020

Makoto Nomiyama

series ordinal

7

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

Toshimitsu Takayanagi

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8

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Europe PubMed Central

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

Ryuji Fukuzawa

series ordinal

9

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

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25 February 2020

Hitomi Yatsuki

series ordinal

10

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 February 2020

Kayoko Koide

series ordinal

11

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stated in

Europe PubMed Central

PMC publication ID

3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 February 2020

Kenichi Nishioka

series ordinal

12

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 February 2020

Keiichiro Joh

series ordinal

13

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 February 2020

Yoriko Watanabe

series ordinal

14

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Europe PubMed Central

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3798850

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 February 2020

Koh-ichiro Yoshiura

series ordinal

15

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Europe PubMed Central

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3798850

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25 February 2020

publication date

13 March 2013

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Europe PubMed Central

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3798850

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retrieved

25 February 2020

published in

European Journal of Human Genetics

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3798850

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25 February 2020

volume

21

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3798850

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25 February 2020

issue

11

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3798850

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25 February 2020

page(s)

1316-1319

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3798850

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25 February 2020

cites work

Active human retrotransposons: variation and disease

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

LINE dancing in the human genome: transposable elements and disease

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

Complex human chromosomal and genomic rearrangements

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

L1 recombination-associated deletions generate human genomic variation

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

Annotation, submission and screening of repetitive elements in Repbase: RepbaseSubmitter and Censor

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

Recently mobilized transposons in the human and chimpanzee genomes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

dbRIP: a highly integrated database of retrotransposon insertion polymorphisms in humans

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

6 September 2017

Perlman syndrome: report, prenatal findings and review.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

3 September 2018

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

3 September 2018

A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3798850

retrieved

3 September 2018

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FEJHG.2013.45

retrieved

21 January 2018

Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23486540

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23486540

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/EJHG.2013.45

1 reference

stated in

Europe PubMed Central

PMC publication ID

3798850

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 February 2020

PMC publication ID

3798850

1 reference

stated in

Europe PubMed Central

PMC publication ID

3798850

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 February 2020

PubMed publication ID

23486540

1 reference

stated in

Europe PubMed Central

PMC publication ID

3798850

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23486540%20AND%20SRC:MED&resulttype=core&format=json

retrieved

25 February 2020

 

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