Found: 30
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Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 21, p. 3462, doi. 10.3390/cells11213462
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- Publication type:
- Article
Analysis of the ABCA4 genomic locus in Stargardt disease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6797, doi. 10.1093/hmg/ddu396
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- Publication type:
- Article
Analysis of the ABCA4 genomic locus in Stargardt disease.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu396
- By:
- Publication type:
- Article
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 16, p. 3647, doi. 10.1093/hmg/dds194
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- Publication type:
- Article
CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 21, p. 3206, doi. 10.1093/hmg/ddl396
- By:
- Publication type:
- Article
Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 14, p. 1991, doi. 10.1093/hmg/ddi204
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- Publication type:
- Article
Unanswered Questions in Headache: So What Is Photophobia, Anyway?
- Published in:
- Headache: The Journal of Head & Face Pain, 2013, v. 53, n. 10, p. 1681, doi. 10.1111/head.12229
- By:
- Publication type:
- Article
dbVOR: a database system for importing pedigree, phenotype and genotype data and exporting selected subsets.
- Published in:
- BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0505-4
- By:
- Publication type:
- Article
Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.
- Published in:
- 2010
- By:
- Publication type:
- Report
Complex Disease: A new vision for age-related macular degeneration.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 7, p. 793, doi. 10.1038/sj.ejhg.5201431
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- Publication type:
- Article
Interpretation of Genetic Association Studies: Markers with Replicated Highly Significant Odds Ratios May Be Poor Classifiers.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000337
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- Publication type:
- Article
C2 and CFB Genes in Age-Related Maculopathy and Joint Action with CFH and LOC387715 Genes.
- Published in:
- PLoS ONE, 2008, v. 3, n. 5, p. 1, doi. 10.1371/journal.pone.0002199
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- Publication type:
- Article
Trait anxiety in pregnant women predicts offspring birth outcomes.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
When Genetics Can Point Researchers and Clinicians in New Directions.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genetic ME--a visualization application for merging and editing pedigrees for genetic studies.
- Published in:
- BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1131-y
- By:
- Publication type:
- Article
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/1471-2350-15-11
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- Publication type:
- Article
Molecular diagnosis of putative Stargardt disease probands by exome sequencing.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 67, doi. 10.1186/1471-2350-13-67
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- Publication type:
- Article
Novel mutations of the RPGR gene in RP3 families.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 386, doi. 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4
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- Publication type:
- Article
Variants of the Adenosine A<sub>2A</sub> Receptor Gene Are Protective against Proliferative Diabetic Retinopathy in Patients with Type 1 Diabetes.
- Published in:
- Ophthalmic Research, 2011, v. 46, n. 1, p. 1, doi. 10.1159/000317057
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- Publication type:
- Article
Three patients with injection of intravitreal vascular endothelial growth factor inhibitors and subsequent exacerbation of chronic proteinuria and hypertension.
- Published in:
- Clinical Kidney Journal, 2019, v. 12, n. 1, p. 92, doi. 10.1093/ckj/sfy060
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- Publication type:
- Article
A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11262-1
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- Publication type:
- Article
Genetic risk models: Influence of model size on risk estimates and precision.
- Published in:
- Genetic Epidemiology, 2017, v. 41, n. 4, p. 282, doi. 10.1002/gepi.22035
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- Publication type:
- Article
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 11, p. 945, doi. 10.1093/hmg/ddae028
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- Publication type:
- Article
Peripheral Sensory Neurons Expressing Melanopsin Respond to Light.
- Published in:
- Frontiers in Neural Circuits, 2016, p. 1, doi. 10.3389/fncir.2016.00060
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- Publication type:
- Article
A full genome scan for age-related maculopathy.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1329
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- Publication type:
- Article
The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 2, p. 323, doi. 10.1093/hmg/8.2.323
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- Publication type:
- Article
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150944
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- Publication type:
- Article
Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12.
- Published in:
- BMC Genetics, 2004, v. 5, p. 18, doi. 10.1186/1471-2156-5-18
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- Publication type:
- Article