154 results on '"Avila‐Fernandez, Almudena"'
Search Results
2. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
3. PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
4. KCNV2-associated retinopathy: genotype–phenotype correlations –KCNV2study group report 3
5. Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
6. Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies
7. KCNV2-associated retinopathy: genotype–phenotype correlations – KCNV2study group report 3
8. A crowdsourcing database for the copy-number variation of the spanish population
9. Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders
10. 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 theRFC1gene
11. Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
12. 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.
13. Generalized dystonia without Parkinsonism in an LRRK2 carrier
14. Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies
15. RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients
16. KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
17. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia
18. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations
19. Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients
20. Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families
21. Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71
22. CSVS, a crowdsourcing database of the Spanish population genetic variability
23. Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants
24. BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome
25. Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.
26. Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1
27. Genomic Landscape of Sporadic Retinitis Pigmentosa
28. Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
29. Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families
30. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
31. Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement
32. Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK
33. Correction: Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
34. A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
35. Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases
36. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
37. Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy
38. Human iPSC derived disease model of MERTK-associated retinitis pigmentosa
39. Autosomal recessive retinitis pigmentosa withRP1mutations is associated with myopia
40. Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients
41. Clinical Aspects of Usher Syndrome and theUSH2AGene in a Cohort of 433 Patients
42. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
43. Prevalence ofRhodopsinmutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families
44. Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations
45. Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population
46. Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies
47. High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
48. Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive Retinitis
49. Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
50. Further Associations between Mutations and Polymorphisms in theABCA4Gene: Clinical Implication of Allelic Variants and Their Role as Protector/Risk Factors
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