Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene. (Q40093168)

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24 February 2020

title

Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene (English)

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24 February 2020

11

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24 February 2020

author name string

Kimiko Suto

1

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24 February 2020

Katsuhiro Hosono

2

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24 February 2020

Masayo Takahashi

3

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24 February 2020

Yasuhiko Hirami

4

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24 February 2020

Yuki Arai

5

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24 February 2020

Yasunori Nagase

6

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24 February 2020

Shinji Ueno

7

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24 February 2020

Hiroko Terasaki

8

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24 February 2020

Shinsei Minoshima

9

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24 February 2020

Mineo Kondo

10

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24 February 2020

language of work or name

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20 February 2013

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24 February 2020

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24 February 2020

volume

35

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24 February 2020

page(s)

25-34

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24 February 2020

issue

1

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Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa

24 February 2020

cites work

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

EYS is a major gene for rod-cone dystrophies in France.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

ISCEV Standard for full-field clinical electroretinography (2008 update).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Copy-number variations in EYS: a significant event in the appearance of arRP.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

Refractive errors in an elderly Japanese population: the Tajimi study.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2013.768673

10.3109/13816810.2013.768673

21 January 2018

Identifiers

DOI

1 reference

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24 February 2020

1 reference