159 results on '"Riveiro-Alvarez, Rosa"'
Search Results
2. PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort
3. Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
4. Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies
5. Analysis of the ABCA4 genomic locus in Stargardt disease
6. Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies
7. RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients
8. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations
9. Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families
10. Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation
11. Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants
12. Evaluating a newly developed pharmacogenetic array: screening in a Spanish population
13. Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism
14. Overview of the Mutation Spectrum in Familial Exudative Vitreoretinopathy and Norrie Disease with Identification of 21 Novel Variants in FZD4, LRP5, and NDP
15. Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1
16. Genomic Landscape of Sporadic Retinitis Pigmentosa
17. ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study
18. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
19. Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
20. MOESM1 of Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children
21. Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects
22. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
23. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
24. Correction: Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
25. A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
26. Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
27. Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases
28. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
29. Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children
30. Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients
31. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
32. Contribution of Mutation Load to the Intrafamilial Genetic Heterogeneity in a Large Cohort of Spanish Retinal Dystrophies Families
33. Prevalence ofRhodopsinmutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families
34. Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population
35. CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment
36. Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies
37. Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
38. High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
39. Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children.
40. Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive Retinitis
41. Further Associations between Mutations and Polymorphisms in theABCA4Gene: Clinical Implication of Allelic Variants and Their Role as Protector/Risk Factors
42. Comparison of High-Resolution Melting Analysis with Denaturing High-Performance Liquid Chromatography for Mutation Scanning in theABCA4Gene
43. Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis
44. Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray
45. Spectrum of theABCA4Gene Mutations Implicated in Severe Retinopathies in Spanish Patients
46. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
47. High frequency of mutations as cause of CRB1 Early-Onset Retinal Dystrophies in the Spanish population.
48. Analysis of the ABCA4 genomic locus in Stargardt disease.
49. ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study.
50. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis
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