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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

International journal of human genetics, 2015-01, Vol.60 (1), p.1-9

2015

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Alström Syndrome: Mutation Spectrum of ALMS1

Human mutation, 2015-07, Vol.36 (7), p.660-668

2015

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Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation

Human molecular genetics, 2015-12, Vol.24 (24), p.6958-6974

2015

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Multiple trait measurements in 43 inbred mouse strains capture the phenotypic diversity characteristic of human populations

Journal of applied physiology (1985), 2007-06, Vol.102 (6), p.2369-2378

2007

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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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NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

Human molecular genetics, 2011-02, Vol.20 (3), p.482-496

2011

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RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

Human molecular genetics, 2009-11, Vol.18 (22), p.4329-4339

2009

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Molecular Characterization of TUB, TULP1, and TULP2, Members of the Novel Tubby Gene Family and their Possible Relation to Ocular Diseases

Proceedings of the National Academy of Sciences - PNAS, 1997-04, Vol.94 (7), p.3128-3133

1997

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Novel Alu retrotransposon insertion leading to Alström syndrome

Human genetics, 2012-03, Vol.131 (3), p.407-413

2012

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The progression from obesity to type 2 diabetes in Alström syndrome

Pediatric diabetes, 2012-02, Vol.13 (1), p.59-67

2012

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Proteomic Analysis of Mitotic RNA Polymerase II Reveals Novel Interactors and Association With Proteins Dysfunctional in Disease

Molecular & cellular proteomics, 2012-06, Vol.11 (6), p.M111.011767-M111.011767, Article M111.011767

2012

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Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

Visual neuroscience, 2008-07, Vol.25 (4), p.563-574

2008

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A candidate gene for the mouse mutation tubby

Nature (London), 1996-04, Vol.380 (6574), p.534-538

1996

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Alstrom Syndrome: Genetics and Clinical Overview

Current genomics, 2011-05, Vol.12 (3), p.225-235

2011

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Alström Syndrome

European journal of human genetics : EJHG, 2007-12, Vol.15 (12), p.1193-1202

2007

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Translational vision research models program

Advances in experimental medicine and biology, 2012, Vol.723, p.391

2012

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Mouse models of human ocular disease for translational research

PloS one, 2017-08, Vol.12 (8), p.e0183837-e0183837

2017

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Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Cells (Basel, Switzerland), 2020-04, Vol.9 (4), p.931

2020

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Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

International journal of molecular sciences, 2022-01, Vol.23 (3), p.1615

2022

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A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction

International journal of molecular sciences, 2022-02, Vol.23 (4), p.2220

2022

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Mutations in Lama1 Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation

The Journal of biological chemistry, 2010-03, Vol.285 (10), p.7697-7711

2010

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Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center

Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.181-191

2018

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Clinical utility gene card for: Alström Syndrome - update 2013

European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.3-4

2013

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Lysosomal Trafficking Regulator (LYST)

Advances in experimental medicine and biology, 2016-01, Vol.854, p.745-750

2016

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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Alström Syndrome: Mutation Spectrum of ALMS1

Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation

Multiple trait measurements in 43 inbred mouse strains capture the phenotypic diversity characteristic of human populations

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

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

Molecular Characterization of TUB, TULP1, and TULP2, Members of the Novel Tubby Gene Family and their Possible Relation to Ocular Diseases

Novel Alu retrotransposon insertion leading to Alström syndrome

The progression from obesity to type 2 diabetes in Alström syndrome

Proteomic Analysis of Mitotic RNA Polymerase II Reveals Novel Interactors and Association With Proteins Dysfunctional in Disease

Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

A candidate gene for the mouse mutation tubby

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Alstrom Syndrome: Genetics and Clinical Overview

Alström Syndrome

Translational vision research models program

Mouse models of human ocular disease for translational research

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction

Mutations in Lama1 Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center

Clinical utility gene card for: Alström Syndrome - update 2013

Lysosomal Trafficking Regulator (LYST)

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