(Q28210984)

1

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Debra K Breuer

2

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Louise Eksandh

3

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Vesna Ponjavic

4

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Christina Frennesson

5

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Suja Hiriyanna

6

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Elena Filippova

7

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Beverly M Yashar

X-linked retinitis pigmentosa

8

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language of work or name

English

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publication date

December 2003

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published in

Ophthalmic Genetics

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volume

24

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issue

4

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page(s)

215-23

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cites work

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Mutations in the RPGR gene cause X-linked cone dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Phenotype-genotype correlations in X linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228

Retinitis pigmentosa: problems associated with genetic classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1076%2FOPGE.24.4.215.17228