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X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

Journal of medical genetics, 2006-08, Vol.43 (8), p.699-704

2006

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Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

Cell, 1995-09, Vol.82 (6), p.959-968

1995

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Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

American journal of human genetics, 2001-10, Vol.69 (4), p.673-684

2001

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Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients

Audiology & neurotology, 2005-03, Vol.10 (2), p.79-89

2005

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Anti-clarin-1 AAV-delivered ribozyme induced apoptosis in the mouse cochlea

Hearing research, 2007-08, Vol.230 (1), p.9-16

2007

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Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q

Human molecular genetics, 1995, Vol.4 (1), p.93-98

1995

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Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene

British journal of ophthalmology, 2005-07, Vol.89 (7), p.820-824

2005

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In vivo confocal microscopy of a family with schnyder crystalline corneal dystrophy

Ophthalmology (Rochester, Minn.), 1999-05, Vol.106 (5), p.944-951

1999

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Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism

Journal of medical genetics, 1998-04, Vol.35 (4), p.279-283

1998

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Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives

Clinical genetics, 1993-03, Vol.43 (3), p.160-165

1993

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Bilateral progressive coats‐type exudative retinopathy in Usher syndrome type IIIA from c.528T>G Clarin 1 (CLRN1) mutation

Acta ophthalmologica (Oxford, England), 2012-09, Vol.90 (s249), p.0-0

2012

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A Sequence-Ready Map of the Usher Syndrome Type III Critical Region on Chromosome 3q

Genomics (San Diego, Calif.), 2000-02, Vol.63 (3), p.409-416

2000

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Autosomal Recessive Cornea Plana: In Vivo Corneal Morphology and Corneal Sensitivity

Investigative ophthalmology & visual science, 2000-07, Vol.41 (8), p.2120-2126

2000

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Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

Human molecular genetics, 1994-07, Vol.3 (7), p.1047-1051

1994

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Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region

Genomics (San Diego, Calif.), 1996-12, Vol.38 (3), p.255-263

1996

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Marked Amine and Amine Metabolite Changes in Norrie Disease Patients with an X‐Chromosomal Deletion Affecting Monoamine Oxidase

Journal of neurochemistry, 1990-01, Vol.54 (1), p.242-247

1990

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Monoamine oxidase deficiency in males with an X chromosome deletion

Neuron (Cambridge, Mass.), 1989, Vol.2 (1), p.1069-1076

1989

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Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

American journal of human genetics, 1990-10, Vol.47 (4), p.622-628

1990

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A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy

Human mutation, 2000-07, Vol.16 (1), p.94-94

2000

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Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Human molecular genetics, 1995-08, Vol.4 (8), p.1467-1469

1995

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X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28

Journal of medical genetics, 1990-05, Vol.27 (5), p.288-291

1990

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Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence

Clinical genetics, 1987-05, Vol.31 (5), p.315-322

1987

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Development of a genotyping microarray for Usher syndrome

Journal of medical genetics, 2007-02, Vol.44 (2), p.153-160

2007

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Choroideremia : linkage analysis with physically mapped close DNA-markers

Human genetics, 1991-07, Vol.87 (3), p.348-352

1991

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Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase

Journal of Neural Transmission, 1991-01, Vol.83 (1-2), p.1-12

1991

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X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Serial Audiometry and Speech Recognition Findings in Finnish Usher Syndrome Type III Patients

Anti-clarin-1 AAV-delivered ribozyme induced apoptosis in the mouse cochlea

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene

In vivo confocal microscopy of a family with schnyder crystalline corneal dystrophy

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism

Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives

Bilateral progressive coats‐type exudative retinopathy in Usher syndrome type IIIA from c.528T>G Clarin 1 (CLRN1) mutation

A Sequence-Ready Map of the Usher Syndrome Type III Critical Region on Chromosome 3q

Autosomal Recessive Cornea Plana: In Vivo Corneal Morphology and Corneal Sensitivity

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region

Marked Amine and Amine Metabolite Changes in Norrie Disease Patients with an X‐Chromosomal Deletion Affecting Monoamine Oxidase

Monoamine oxidase deficiency in males with an X chromosome deletion

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28

Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence

Development of a genotyping microarray for Usher syndrome

Choroideremia : linkage analysis with physically mapped close DNA-markers

Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase

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