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Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia

Molecular psychiatry, 2018-11, Vol.23 (11), p.2156-2166

2018

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Gene-based therapies for dominantly inherited retinopathies

Gene therapy, 2012-02, Vol.19 (2), p.137-144

2012

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Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene

American journal of human genetics, 1999-04, Vol.64 (4), p.971-985

1999

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On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention

The EMBO journal, 2002-03, Vol.21 (5), p.857-864

2002

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Strategems in Vitro for Gene Therapies Directed to Dominant Mutations

Human molecular genetics, 1997-09, Vol.6 (9), p.1415-1426

1997

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Ribozyme-Based Therapeutic Approaches for Autosomal Dominant Retinitis Pigmentosa

Investigative ophthalmology & visual science, 2000-09, Vol.41 (10), p.2863-2869

2000

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A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma

Journal of medical genetics, 1998-11, Vol.35 (11), p.957-960

1998

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Photoastigmatic refractive keratectomy for compound myopic astigmatism with a Nidek laser

Journal of refractive surgery (1995), 1997-03, Vol.13 (2), p.162

1997

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Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta

Human molecular genetics, 2002-09, Vol.11 (19), p.2201-2206

2002

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Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds–peripherin gene

Human molecular genetics, 2002-05, Vol.11 (9), p.1005-1016

2002

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Efficacy of codelivery of dual AAV2/5 vectors in the murine retina and hippocampus

Human gene therapy, 2012-08, Vol.23 (8), p.847

2012

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Adeno-associated virus-mediated rhodopsin replacement provides therapeutic benefit in mice with a targeted disruption of the rhodopsin gene

Human gene therapy, 2010-03, Vol.21 (3), p.311

2010

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Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy

Journal of medical genetics, 1995-11, Vol.32 (11), p.855-858

1995

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Gene-based therapies for dominantly inherited retinopathies : Gene Therapy for Eye Diseases

Gene therapy, 2012, Vol.19 (2), p.137-144

2012

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Evidence for Further Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa

Genomics (San Diego, Calif.), 1993, Vol.15 (1), p.212-215

1993

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Apoptotic Photoreceptor Death in the Rhodopsin Knockout Mouse in the Presence and Absence of c-fos

Experimental eye research, 2000-09, Vol.71 (3), p.247-254

2000

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Toward a Gene Therapy for Dominant Disease: Validation of an RNA Interference-Based Mutation-Independent Approach

Molecular therapy, 2005-09, Vol.12 (3), p.555-561

2005

Volltextzugriff (PDF)

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice

Human molecular genetics, 2002-03, Vol.11 (5), p.547-557

2002

Volltextzugriff (PDF)

Hedgehog Signaling Pathway Database: a repository of current annotation efforts and resources for the Hh research community

Nucleic acids research, 2007-01, Vol.35 (Database issue), p.D595

2007

Volltextzugriff (PDF)

A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

Human mutation, 1993, Vol.2 (1), p.37-42

1993

Volltextzugriff (PDF)

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa

Human molecular genetics, 2004-03, Vol.13 (6), p.641-650

2004

Volltextzugriff (PDF)

Giant retinal tear in Usher syndrome type II: coincidence or association?

Retina (Philadelphia, Pa.), 1998, Vol.18 (2), p.177-178

1998

Volltextzugriff (PDF)

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

Human mutation, 1999, Vol.13 (1), p.75-81

1999

Volltextzugriff (PDF)

Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

Human mutation, 1996, Vol.8 (1), p.57-63

1996

Volltextzugriff (PDF)

Rnai of COL1A1 in mesenchymal progenitor cells

European journal of human genetics : EJHG, 2004-10, Vol.12 (10), p.864-866

2004

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Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia

Gene-based therapies for dominantly inherited retinopathies

Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene

On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention

Strategems in Vitro for Gene Therapies Directed to Dominant Mutations

Ribozyme-Based Therapeutic Approaches for Autosomal Dominant Retinitis Pigmentosa

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma

Photoastigmatic refractive keratectomy for compound myopic astigmatism with a Nidek laser

Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta

Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds–peripherin gene

Efficacy of codelivery of dual AAV2/5 vectors in the murine retina and hippocampus

Adeno-associated virus-mediated rhodopsin replacement provides therapeutic benefit in mice with a targeted disruption of the rhodopsin gene

Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy

Gene-based therapies for dominantly inherited retinopathies : Gene Therapy for Eye Diseases

Evidence for Further Genetic Heterogeneity in Autosomal Dominant Retinitis Pigmentosa

Apoptotic Photoreceptor Death in the Rhodopsin Knockout Mouse in the Presence and Absence of c-fos

Toward a Gene Therapy for Dominant Disease: Validation of an RNA Interference-Based Mutation-Independent Approach

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho-/- mice

Hedgehog Signaling Pathway Database: a repository of current annotation efforts and resources for the Hh research community

A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa

Giant retinal tear in Usher syndrome type II: coincidence or association?

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness

Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

Rnai of COL1A1 in mesenchymal progenitor cells

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