(Q24677020)

2

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H Tyynismaa

3

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T Bech-Hansen

4

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A Meindl

5

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M Peippo

6

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M Mäntyjärvi

7

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M B Gorin

8

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T Alitalo

Journal of Medical Genetics

9

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language of work or name

English

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publication date

June 2003

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published in

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volume

40

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issue

6

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page(s)

418-23

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cites work

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

7 April 2017

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Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

7 April 2017

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Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

7 April 2017

1 reference

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Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

7 April 2017

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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

7 April 2017

1 reference

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Refined localization of the gene causing X-linked juvenile retinoschisis

7 April 2017

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Faster sequential genetic linkage computations

7 April 2017

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7 April 2017

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

28 September 2017

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Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy

28 September 2017

1 reference

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Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15

28 September 2017

1 reference

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Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.

28 September 2017

1 reference

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Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity

28 September 2017

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X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis

28 September 2017

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28 September 2017

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Molecular genetics of human blue cone monochromacy

28 September 2017

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A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies

28 September 2017

1 reference

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X-linked myopia in Danish family.

28 September 2017

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X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers

30 May 2018

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X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq.

30 May 2018

1 reference

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X-linked recessive atrophic macular degeneration from RPGR mutation

30 May 2018

1 reference

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Mutations in the RPGR gene cause X-linked cone dystrophy

28 November 2018

1 reference

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Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735490

Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3

28 November 2018

1 reference

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An electroretinographic and molecular genetic study of X-linked cone degeneration

28 November 2018

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12 December 2020

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

12 December 2020

Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree

1 reference

12 December 2020

X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon

1 reference

12 December 2020