Found: 34
Select item for more details and to access through your institution.
High frequency of mutations as cause of CRB1 Early-Onset Retinal Dystrophies in the Spanish population.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-20
- By:
- Publication type:
- Article
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Posterior cortical atrophy in clinical practice.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.074568
- By:
- Publication type:
- Article
De novo PSEN1 mutation (Pro436Gln) in a very early onset posterior variant of Alzheimer's disease is associated with pyramidal signs.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.052804
- By:
- Publication type:
- Article
Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8431, doi. 10.3390/ijms23158431
- By:
- Publication type:
- Article
Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2092, doi. 10.3390/ijms22042092
- By:
- Publication type:
- Article
Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- Scientific Reports, 2016, p. 24843, doi. 10.1038/srep24843
- By:
- Publication type:
- Article
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- Scientific Reports, 2016, p. 19531, doi. 10.1038/srep19531
- By:
- Publication type:
- Article
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
- Published in:
- Scientific Reports, 2015, p. 13902, doi. 10.1038/srep13902
- By:
- Publication type:
- Article
Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065574
- By:
- Publication type:
- Article
DISTROFIAS HEREDITARIAS DE RETINA EN ESPAÑA: TRES DÉCADAS DE ESTUDIO EPIDEMIOLÓGICO, CLÍNICO Y GENÉTICO.
- Published in:
- Anales de la Real Academia Nacional de Medicina, 2022, v. 139, n. 3, p. 274, doi. 10.32440/ar.2022.139.03.rev08
- By:
- Publication type:
- Article
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00311-2
- By:
- Publication type:
- Article
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00278-6
- By:
- Publication type:
- Article
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00188-7
- By:
- Publication type:
- Article
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00182-z
- By:
- Publication type:
- Article
Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 2, p. 157, doi. 10.1001/jamaophthalmol.2014.4498
- By:
- Publication type:
- Article
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 2, p. 133, doi. 10.1001/jamaophthalmol.2014.4266
- By:
- Publication type:
- Article
Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
- Published in:
- Molecular Vision, 2022, v. 28, p. 48
- By:
- Publication type:
- Article
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
- Published in:
- Molecular Vision, 2020, v. 26, p. 216
- By:
- Publication type:
- Article
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 236, doi. 10.1111/cge.14249
- By:
- Publication type:
- Article
A crowdsourcing database for the copy-number variation of the Spanish population.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00466-8
- By:
- Publication type:
- Article
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4037, doi. 10.1093/hmg/ddv140
- By:
- Publication type:
- Article
Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 8, p. 922, doi. 10.1111/aos.14795
- By:
- Publication type:
- Article
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 1, p. e38, doi. 10.1111/aos.12486
- By:
- Publication type:
- Article
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0151943
- By:
- Publication type:
- Article
Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0153121
- By:
- Publication type:
- Article
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149473
- By:
- Publication type:
- Article
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
- Published in:
- European Journal of Ophthalmology, 2023, v. 33, n. 2, p. 735, doi. 10.1177/11206721221138891
- By:
- Publication type:
- Article
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.
- Published in:
- Scientific Reports, 2015, p. 12910, doi. 10.1038/srep12910
- By:
- Publication type:
- Article
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1234032
- By:
- Publication type:
- Article
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199048
- By:
- Publication type:
- Article
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2913, doi. 10.3390/ijms25052913
- By:
- Publication type:
- Article
Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/517570
- By:
- Publication type:
- Article