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Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

Human mutation, 1999-11, Vol.14 (5), p.423-427

1999

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Mutations of RPGR in X-linked retinitis pigmentosa (RP3)

Human mutation, 2002-05, Vol.19 (5), p.486-500

2002

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Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling

Human mutation, 2007-01, Vol.28 (1), p.81-91

2007

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RPGR mutation analysis and disease: an update

Human mutation, 2007-04, Vol.28 (4), p.322-328

2007

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Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Human mutation, 2001, Vol.17 (1), p.42-51

2001

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human retinitis pigmentosa GTPase regulator gene variant database

Human mutation, 2008-05, Vol.29 (5), p.605-608

2008

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

Human mutation, 2001-08, Vol.18 (2), p.109-119

2001

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base

Human mutation, 2010-10, Vol.31 (10), p.1097-1108

2010

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RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Human mutation, 2012-01, Vol.33 (1), p.73-80

2012

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Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Human mutation, 1993, Vol.2 (4), p.249-255

1993

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Differential occurrence of mutations causative of eye diseases in the Chinese population

Human mutation, 2002-03, Vol.19 (3), p.189-208

2002

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Mutations in the CACNA1F and NYX genes in British CSNBX families

Human mutation, 2003-02, Vol.21 (2), p.169-169

2003

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Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

Human mutation, 1996, Vol.8 (4), p.297-303

1996

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Novel mutations of the RPGR gene in RP3 families

Human mutation, 2000-04, Vol.15 (4), p.386-386

2000

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Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

Mutations of RPGR in X-linked retinitis pigmentosa (RP3)

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling

RPGR mutation analysis and disease: an update

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

human retinitis pigmentosa GTPase regulator gene variant database

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

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

Differential occurrence of mutations causative of eye diseases in the Chinese population

Homozygous tandem duplication within the gene encoding the β-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa

Mutations in the CACNA1F and NYX genes in British CSNBX families

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

Novel mutations of the RPGR gene in RP3 families

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