Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations (Q35505179)

8 August 2017

title

Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations (English)

1 reference

8 August 2017

1 reference

Vera L Bonilha

1 reference

8 August 2017

Mary E Rayborn

1 reference

8 August 2017

Brent A Bell

1 reference

8 August 2017

Meghan J Marino

1 reference

8 August 2017

Gayle J Pauer

1 reference

8 August 2017

Craig D Beight

1 reference

8 August 2017

John Chiang

1 reference

8 August 2017

Elias I Traboulsi

1 reference

8 August 2017

Joe G Hollyfield

1 reference

8 August 2017

Stephanie A Hagstrom

1 reference

8 August 2017

publication date

11 December 2014

1 reference

Graefe's Archive for Clinical and Experimental Ophthalmology

8 August 2017

published in

1 reference

8 August 2017

volume

253

1 reference

8 August 2017

1 reference

8 August 2017

page(s)

295-305

1 reference

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

8 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

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/10.1007%2FS00417-014-2868-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

Transforming the architecture of compound eyes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

Imaging human postmortem eyes with SLO and OCT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

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/10.1007%2FS00417-014-2868-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

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/10.1007%2FS00417-014-2868-Z

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/10.1007%2FS00417-014-2868-Z

Copy-Number Variations inEYS:A Significant Event in the Appearance of arRP

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

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/10.1007%2FS00417-014-2868-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

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/10.1007%2FS00417-014-2868-Z

Autosomal Dominant Retinitis Pigmentosa Caused by the Threonine-17-Methionine Rhodopsin Mutation: Retinal Histopathology and Immunocytochemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00417-014-2868-Z

Sex-linked retinitis pigmentosa: ultrastructure of photoreceptors and pigment epithelium

21 January 2018

1 reference

12 December 2020

Rod photoreceptor neurite sprouting in retinitis pigmentosa

1 reference

12 December 2020

Retinal ultrastructure in advanced retinitis pigmentosa

1 reference

12 December 2020

Population genetic studies of retinitis pigmentosa.

1 reference

12 December 2020

Electron microscopic studies of human retinitis pigmentosa. I. Two cases of advanced retinitis pigmentosa

1 reference

12 December 2020

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa

1 reference

12 December 2020

Electron microscopic observations of human retinitis pigmentosa, dominantly inherited

1 reference

12 December 2020

A dominantly inherited chorioretinal degeneration resembling sectoral retinitis pigmentosa

1 reference

12 December 2020

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene

1 reference

12 December 2020

Clinicopathologic effects of the Q64ter rhodopsin mutation in retinitis pigmentosa

1 reference

12 December 2020

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene

1 reference

12 December 2020

Histopathologic study of an unusual form of retinitis pigmentosa

1 reference

12 December 2020

Abnormalities in rod photoreceptors, amacrine cells, and horizontal cells in human retinas with retinitis pigmentosa

1 reference

12 December 2020

Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa

1 reference

12 December 2020

Histopathology of bone spicule pigmentation in retinitis pigmentosa

1 reference

12 December 2020

Retinal histopathology of a carrier of X-chromosome-linked retinitis pigmentosa

1 reference

12 December 2020

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

1 reference

12 December 2020

Histopathological and biochemical studies on donor eyes affected with retinitis pigmentosa

1 reference

12 December 2020

Preservation of the Inner Retina in Retinitis Pigmentosa

1 reference

12 December 2020

Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.

1 reference

12 December 2020

Prevalence of retinitis pigmentosa in Maine

1 reference

12 December 2020

Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys

1 reference

12 December 2020

Histopathology of the human retina in retinitis pigmentosa

1 reference

12 December 2020

Morphological findings in retinitis pigmentosa with early diffuse rod dysfunction

1 reference

12 December 2020

10.1007/S00417-014-2868-Z

Identifiers

DOI

1 reference

8 August 2017

1 reference