Found: 44
Select item for more details and to access through your institution.
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 12005, doi. 10.3390/ijms231912005
- By:
- Publication type:
- Article
Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810419
- By:
- Publication type:
- Article
Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1<sup>rd8</sup> mouse model.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 6, p. 1, doi. 10.1371/journal.pgen.1009798
- By:
- Publication type:
- Article
Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.
- Published in:
- PLoS ONE, 2022, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0254469
- By:
- Publication type:
- Article
A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2220, doi. 10.3390/ijms23042220
- By:
- Publication type:
- Article
Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1615, doi. 10.3390/ijms23031615
- By:
- Publication type:
- Article
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 4, p. 931, doi. 10.3390/cells9040931
- By:
- Publication type:
- Article
An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 19, p. 3340, doi. 10.1093/hmg/ddy238
- By:
- Publication type:
- Article
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mouse models of human ocular disease for translational research.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183837
- By:
- Publication type:
- Article
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2210, doi. 10.1002/ajmg.a.38316
- By:
- Publication type:
- Article
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 24, p. 6958, doi. 10.1093/hmg/ddv399
- By:
- Publication type:
- Article
Alström Syndrome: Mutation Spectrum of ALMS1.
- Published in:
- Human Mutation, 2015, v. 36, n. 7, p. 660, doi. 10.1002/humu.22796
- By:
- Publication type:
- Article
GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1<sup>GT/GT</sup>, a Mouse Model for Obesity and Insulin Resistance.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109540
- By:
- Publication type:
- Article
Gene Profiling of Postnatal Mfrp<sup>rd6</sup> Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110299
- By:
- Publication type:
- Article
Clinical utility gene card for: Alström Syndrome - update 2013.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.61
- By:
- Publication type:
- Article
Brain involvement in Alström syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-24
- By:
- Publication type:
- Article
The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037925
- By:
- Publication type:
- Article
The progression from obesity to type 2 diabetes in Alström syndrome.
- Published in:
- Pediatric Diabetes, 2012, v. 13, n. 1, p. 59, doi. 10.1111/j.1399-5448.2011.00789.x
- By:
- Publication type:
- Article
The progression from obesity to type 2 diabetes in Alström syndrome.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 485, doi. 10.1038/ejhg.2010.207
- By:
- Publication type:
- Article
LARGE Expression Augments the Glycosylation of Glycoproteins in Addition to - α-Dystroglycan Conferring Laminin Binding.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019081
- By:
- Publication type:
- Article
NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 3, p. 482, doi. 10.1093/hmg/ddq494
- By:
- Publication type:
- Article
Mouse model resources for vision research.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 22, p. 4329, doi. 10.1093/hmg/ddp385
- By:
- Publication type:
- Article
New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 1, p. 178, doi. 10.1093/hmg/ddn327
- By:
- Publication type:
- Article
Allelic variance between GRM6 mutants, Grm6<sup>nob3</sup> and Grm6<sup>nob4</sup> results in differences in retinal ganglion cell visual responses.
- Published in:
- Journal of Physiology, 2008, v. 586, n. 18, p. 4409, doi. 10.1113/jphysiol.2008.157289
- By:
- Publication type:
- Article
Mapping of genetic modifiers of Nr2e3 <sup> rd7/rd7 </sup> that suppress retinal degeneration and restore blue cone cells to normal quantity.
- Published in:
- Mammalian Genome, 2008, v. 19, n. 3, p. 145, doi. 10.1007/s00335-008-9092-2
- By:
- Publication type:
- Article
Alström Syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1193, doi. 10.1038/sj.ejhg.5201933
- By:
- Publication type:
- Article
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1114, doi. 10.1002/humu.20577
- By:
- Publication type:
- Article
Effect of Metformin and Rosiglitazone in a Prepubertal Boy with Alström Syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2007, v. 20, n. 9, p. 1045, doi. 10.1515/jpem.2007.20.9.1045
- By:
- Publication type:
- Article
Characterization of the IGF system in 15 patients with Alström syndrome.
- Published in:
- Clinical Endocrinology, 2007, v. 66, n. 2, p. 269, doi. 10.1111/j.1365-2265.2007.02721.x
- By:
- Publication type:
- Article
Novel Leptin Receptor Mutation in NOD/LtJ Mice Suppresses Type 1 Diabetes Progression.
- Published in:
- Diabetes, 2005, v. 54, n. 9, p. 2525, doi. 10.2337/diabetes.54.9.2525
- By:
- Publication type:
- Article
Novel leptin receptor mutation in NOD/LtJ mice suppresses type 1 diabetes progression: I. Pathophysiological analysis.
- Published in:
- 2005
- By:
- Publication type:
- journal article
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 17, p. 2179, doi. 10.1093/hmg/ddg232
- By:
- Publication type:
- Article
Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor).
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 11, p. 1359, doi. 10.1093/hmg/ddg154
- By:
- Publication type:
- Article
Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor).
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1029, doi. 10.1093/hmg/ddg112
- By:
- Publication type:
- Article
Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 16, p. 1879, doi. 10.1093/hmg/11.16.1879
- By:
- Publication type:
- Article
Genetic modifiers of vision and hearing.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 10, p. 1195, doi. 10.1093/hmg/11.10.1195
- By:
- Publication type:
- Article
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
- Published in:
- Nature Genetics, 2002, v. 31, n. 1, p. 74, doi. 10.1038/ng867
- By:
- Publication type:
- Article
Microtubule-associated protein 1A is a modifier of tubby hearing (moth1).
- Published in:
- Nature Genetics, 2002, v. 30, n. 4, p. 401, doi. 10.1038/ng838
- By:
- Publication type:
- Article
Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1619, doi. 10.1093/hmg/10.16.1619
- By:
- Publication type:
- Article
The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 4, p. 236, doi. 10.1111/j.1399-0004.1997.tb02461.x
- By:
- Publication type:
- Article