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Synthetic chromosome fusion: Effects on mitotic and meiotic genome structure and function

Cell genomics, 2023-11, Vol.3 (11), p.100439-100439, Article 100439

2023

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FROM ZEBRAFISH TO HUMAN: Modular Medical Models

Annual review of genomics and human genetics, 2002-01, Vol.3 (1), p.311-340

2002

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A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

American journal of human genetics, 2002-06, Vol.70 (6), p.1545-1554

2002

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Involvement of Wnt signaling pathway in murine medulloblastoma induced by human neurotropic JC virus

Oncogene, 2001-08, Vol.20 (35), p.4864-4870

2001

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Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X-Linked Retinitis Pigmentosa

American journal of human genetics, 1997-12, Vol.61 (6), p.1287-1292

1997

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

Genomics (San Diego, Calif.), 1990-10, Vol.8 (2), p.286-296

1990

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Evaluating the mouse neural precursor line, SN4741, as a suitable proxy for midbrain dopaminergic neurons

BMC genomics, 2023-06, Vol.24 (1), p.306-306, Article 306

2023

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How chromosomal inversions reorient the evolutionary process

Journal of evolutionary biology, 2023-12, Vol.36 (12), p.1761-1782

2023

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Primary intestinal lymphangiectasia (Waldmann's disease)

Orphanet journal of rare diseases, 2008-02, Vol.3 (1), p.5-5, Article 5

2008

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Interleukin-6 haplotypes and the response to therapy of chronic hepatitis C virus infection

Genes and immunity, 2009-06, Vol.10 (4), p.365-372

2009

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Comparative genomic analysis of Atlantic salmon, Salmo salar, from Europe and North America

BMC genetics, 2010-11, Vol.11, p.105

2010

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Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3)

Human molecular genetics, 1995-12, Vol.4 (12), p.2347-2353

1995

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no evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): Evidence for genetic heterogeneity

Genomics (San Diego, Calif.), 1990, Vol.6 (1), p.168-173

1990

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Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus

Journal of medical genetics, 1990-01, Vol.27 (1), p.14-16

1990

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RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

Journal of genetics, 2009-12, Vol.88 (4), p.399-407

2009

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RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

Journal of medical genetics, 2006-04, Vol.43 (4), p.326-333

2006

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RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa

American journal of human genetics, 2003-11, Vol.73 (5), p.1131-1146

2003

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X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

American journal of human genetics, 2002-04, Vol.70 (4), p.1049-1053

2002

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Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.18-18, Article 18

2021

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

Human molecular genetics, 2000-09, Vol.9 (14), p.2095-2105

2000

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How Important Are Structural Variants for Speciation?

Genes, 2021-07, Vol.12 (7), p.1084

2021

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Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

Human molecular genetics, 2002-05, Vol.11 (10), p.1219-1227

2002

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Eukaryote hybrid genomes

PLoS genetics, 2019-11, Vol.15 (11), p.e1008404-e1008404

2019

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RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

Human molecular genetics, 1999-08, Vol.8 (8), p.1571-1578

1999

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RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

Journal of medical genetics, 2003-08, Vol.40 (8), p.609-615

2003

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Synthetic chromosome fusion: Effects on mitotic and meiotic genome structure and function

FROM ZEBRAFISH TO HUMAN: Modular Medical Models

A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Involvement of Wnt signaling pathway in murine medulloblastoma induced by human neurotropic JC virus

Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X-Linked Retinitis Pigmentosa

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

Evaluating the mouse neural precursor line, SN4741, as a suitable proxy for midbrain dopaminergic neurons

How chromosomal inversions reorient the evolutionary process

Primary intestinal lymphangiectasia (Waldmann's disease)

Interleukin-6 haplotypes and the response to therapy of chronic hepatitis C virus infection

Comparative genomic analysis of Atlantic salmon, Salmo salar, from Europe and North America

Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3)

no evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): Evidence for genetic heterogeneity

Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

RP2 and RPGR Mutations and Clinical Correlations in Patients with X-Linked Retinitis Pigmentosa

X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

How Important Are Structural Variants for Speciation?

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

Eukaryote hybrid genomes

RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

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