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Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

Annual review of neuroscience, 2003-01, Vol.26, p.657-700

2003

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A new mouse model of metabolic syndrome and associated complications

Journal of endocrinology, 2009-07, Vol.202 (1), p.17-28

2009

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New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

Human molecular genetics, 2009-01, Vol.18 (1), p.178-192

2009

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Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Nature genetics, 2002-05, Vol.31 (1), p.74-78

2002

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Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

Human molecular genetics, 2002-08, Vol.11 (16), p.1879-1886

2002

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Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

Nature genetics, 1998-02, Vol.18 (2), p.174-176

1998

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Spontaneous Corneal Hem- and Lymphangiogenesis in Mice with Destrin-Mutation Depend on VEGFR3 Signaling

The American journal of pathology, 2005-05, Vol.166 (5), p.1367-1377

2005

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Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

Human molecular genetics, 2000-01, Vol.9 (2), p.155-163

2000

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Genetic modifiers of vision and hearing

Human molecular genetics, 2002-05, Vol.11 (10), p.1195-1206

2002

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Relationship between lipoprotein- and oxidation-related variables and atheroma lipid composition in subjects undergoing coronary artery bypass graft surgery

Arteriosclerosis, thrombosis, and vascular biology, 1999-06, Vol.19 (6), p.1512-1517

1999

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Cell-Specific Expression of Tubby Gene Family Members (tub, Tulp1, 2, and 3) in the Retina

Investigative ophthalmology & visual science, 1999-10, Vol.40 (11), p.2706-2712

1999

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New Alström syndrome phenotypes based on the evaluation of 182 cases

Archives of internal medicine (1960), 2005-03, Vol.165 (6), p.675

2005

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Severe Ocular Abnormalities in C57BL/6 but Not in 129/Sv p53-Deficient Mice

Investigative ophthalmology & visual science, 1999-07, Vol.40 (8), p.1874-1878

1999

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Atherosclerosis and plasma and liver lipids in nine inbred strains of mice

Lipids, 1993-07, Vol.28 (7), p.599-605

1993

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Atherosclerosis in genetically obese mice: The mutants obese, diabetes, fat, tubby, and lethal yellow

Metabolism, clinical and experimental, 1994-05, Vol.43 (5), p.554-558

1994

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Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

Human molecular genetics, 2001-08, Vol.10 (16), p.1619-1626

2001

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Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome

Archives of ophthalmology (1960), 2008-01, Vol.126 (1), p.51

2008

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Retinal Degeneration 6 (rd6): A New Mouse Model for Human Retinitis Punctata Albescens

Investigative ophthalmology & visual science, 2000-09, Vol.41 (10), p.3149-3157

2000

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GPR1 79 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness

American journal of human genetics, 2012, Vol.90 (2), p.331-339

2012

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Homozygosity Mapping of Alström Syndrome to Chromosome 2p

Human molecular genetics, 1997-02, Vol.6 (2), p.213-219

1997

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Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families

American journal of medical genetics, 1997-12, Vol.73 (2), p.150-161

1997

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Alström syndrome : further evidence for linkage to human chromosome 2p13

Human genetics, 1999-11, Vol.105 (5), p.474-479

1999

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The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene

Clinical genetics, 1997-04, Vol.51 (4), p.236-240

1997

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Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations

A new mouse model of metabolic syndrome and associated complications

New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

Spontaneous Corneal Hem- and Lymphangiogenesis in Mice with Destrin-Mutation Depend on VEGFR3 Signaling

Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene

Genetic modifiers of vision and hearing

Relationship between lipoprotein- and oxidation-related variables and atheroma lipid composition in subjects undergoing coronary artery bypass graft surgery

Cell-Specific Expression of Tubby Gene Family Members (tub, Tulp1, 2, and 3) in the Retina

New Alström syndrome phenotypes based on the evaluation of 182 cases

Severe Ocular Abnormalities in C57BL/6 but Not in 129/Sv p53-Deficient Mice

Atherosclerosis and plasma and liver lipids in nine inbred strains of mice

Atherosclerosis in genetically obese mice: The mutants obese, diabetes, fat, tubby, and lethal yellow

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice

Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome

Retinal Degeneration 6 (rd6): A New Mouse Model for Human Retinitis Punctata Albescens

GPR1 79 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness

Homozygosity Mapping of Alström Syndrome to Chromosome 2p

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families

Alström syndrome : further evidence for linkage to human chromosome 2p13

The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene

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