A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. (Q52887998)

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scientific article published in April 2017

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English	A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.	scientific article published in April 2017

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

author name string

Tomohiro Kohmoto

1

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

Takuya Naruto

2

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

Miki Watanabe

3

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

Yuji Fujita

4

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

Sae Ujiro

5

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

Nana Okamoto

6

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

Hideaki Horikawa

7

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

Kiyoshi Masuda

8

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

Issei Imoto

9

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

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publication date

1 April 2017

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

American Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

173

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

4

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

1082-1086

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Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Mechanisms for human genomic rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

L1 recombination-associated deletions generate human genomic variation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Human Structural Variation: Mechanisms of Chromosome Rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Microhomology-Mediated End Joining: A Back-up Survival Mechanism or Dedicated Pathway?

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 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

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Detection of 1p36 deletion by clinical exome-first diagnostic approach

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38122

21 January 2018

Identifiers

10.1002/AJMG.A.38122

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/28328141

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