(Q84242792)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19609279%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene (English)

1 reference

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2 February 2020

author name string

Zhujun Zhang

1

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2 February 2020

Mariko Yagi

2

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2 February 2020

Yo Okizuka

3

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2 February 2020

Hiroyuki Awano

4

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2 February 2020

Yasuhiro Takeshima

5

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2 February 2020

Masafumi Matsuo

6

1 reference

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2 February 2020

publication date

17 July 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19609279%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

2 February 2020

published in

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2 February 2020

volume

54

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2 February 2020

issue

8

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2 February 2020

page(s)

466-473

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https://scigraph.springernature.com/pub.10.1038/jhg.2009.63

2 February 2020

exact match

0 references

cites work

The structural and functional diversity of dystrophin

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Duplications in the DMD gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

DMD and IL1RAPL1: two large adjacent genes localized within a common fragile site (FRAXC) have reduced expression in cultured brain tumors

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Template Switching: From Replication Fork Repair to Genome Rearrangements

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Mechanisms for human genomic rearrangements

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Deletion and duplication screening in the DMD gene using MLPA.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

A dinucleotide repeat polymorphism at the DMD locus

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Eight novel microsatellite markers in the 3' region of the dystrophin gene useful for diagnosis of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Standardized nomenclature for Alu repeats.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Complex gene rearrangements caused by serial replication slippage

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.63

7 January 2021

Identifiers

DOI

10.1038/JHG.2009.63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19609279%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference