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39 results on '"Riveiro-Alvarez R"'

1. Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis.

Author

Vallespin E, Avila-Fernandez A, Almoguera B, Velez-Monsalve C, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Substitution, Base Sequence, Codon genetics, Humans, Mutation, Missense, Eye Proteins genetics, Leber Congenital Amaurosis genetics, Microtubule-Associated Proteins genetics
Published
2010

5. Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

Author

Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Martinez-Garcia M, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Base Sequence, Codon, DNA Mutational Analysis, Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Eye Diseases, Hereditary genetics, Mutation, Nucleotides genetics
Published
2009

6. Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

Author

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Vallespin E, Villaverde-Montero C, Gomez-Dominguez B, Auz-Alexandre CL, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Base Sequence, Codon, Humans, Molecular Sequence Data, Sequence Analysis, DNA, ATP-Binding Cassette Transporters genetics, Codon, Nonsense, Corneal Dystrophies, Hereditary genetics, Mutation, Missense, Nucleotides genetics
Published
2009

7. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Humans, Point Mutation, ATP-Binding Cassette Transporters genetics, Amino Acid Substitution, Codon genetics, Corneal Dystrophies, Hereditary genetics, Mutation, Missense
Published
2008

8. Gene symbol: NDP. Disease: Norrie disease.

Author

Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Humans, Codon genetics, Deafness genetics, Eye Proteins genetics, Gene Deletion, Nerve Tissue Proteins genetics, Retinal Diseases genetics
Published
2008

9. Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile.

Author

Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, and Ayuso C

Subjects
Humans, Codon genetics, Eye Proteins genetics, Gene Deletion, Retinoschisis genetics
Published
2008

10. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Humans, Point Mutation, ATP-Binding Cassette Transporters genetics, Amino Acid Substitution, Codon genetics, Corneal Dystrophies, Hereditary genetics, Mutation, Missense
Published
2008

11. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Aguirre-Lambán J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Humans, Point Mutation, ATP-Binding Cassette Transporters genetics, Amino Acid Substitution, Codon genetics, Corneal Dystrophies, Hereditary genetics, Mutation, Missense
Published
2008

12. Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.

Author

Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez-Pardo A, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Humans, Molecular Sequence Data, Codon, Nonsense genetics, Eye Proteins genetics, Genetic Diseases, X-Linked genetics, Mutation, Missense genetics, Retinoschisis genetics
Published
2008

13. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Aguirre J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, and Ayuso C

Subjects
Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Codon, Nonsense genetics, Macular Degeneration genetics, Mutation, Missense genetics
Published
2008

14. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Aguirre-Lambán J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, and Ayuso C

Subjects
Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Codon, Nonsense genetics, Macular Degeneration genetics, Mutation, Missense genetics
Published
2008

15. Gene symbol: ABCA4. Disease: Stargardt disease.

Author

Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre-Lamban J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Gene Deletion, Macular Degeneration genetics
Published
2008

16. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, and Ayuso C

Subjects
Alternative Splicing, Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Macular Degeneration genetics, Mutation genetics
Published
2008

17. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, and Ayuso C

Subjects
Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Codon, Nonsense genetics, Macular Degeneration genetics, Mutation, Missense genetics
Published
2008

18. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Trujillo-Tiebas MJ, Villaverde-Montero C, and Ayuso C

Subjects
Gene Deletion, Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Macular Degeneration genetics, Mutation genetics
Published
2008

19. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, and Ayuso C

Subjects
ATP-Binding Cassette Transporters chemistry, Amino Acid Substitution, Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Corneal Dystrophies, Hereditary genetics
Published
2008

20. Gene symbol: BEST1. Disease: Best macular dystrophy.

Author

Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Substitution, Bestrophins, Chloride Channels chemistry, Eye Proteins chemistry, Humans, Molecular Sequence Data, Chloride Channels genetics, Corneal Dystrophies, Hereditary genetics, Eye Proteins genetics
Published
2008

21. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Maia-Lopes S, Castelo-Branco M, Silva E, Aguirre J, Riveiro-Alvarez R, Trujillo-Tiebas MJ, and Ayuso C

Subjects
ATP-Binding Cassette Transporters chemistry, Amino Acid Substitution, Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Corneal Dystrophies, Hereditary genetics
Published
2008

22. Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

Author

Aguirre J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Lopez-Martinez MA, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Base Sequence, Codon genetics, DNA genetics, Humans, ATP-Binding Cassette Transporters genetics, Eye Diseases, Hereditary genetics, Mutagenesis, Insertional
Published
2007

23. Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy.

Author

Villaverde C, Trujillo-Tiebas MJ, Gallego-Merlo J, Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Carballo M, and Ayuso C

Subjects
Amino Acid Substitution, Codon genetics, Humans, Peripherins, Intermediate Filament Proteins genetics, Macular Degeneration genetics, Membrane Glycoproteins genetics, Mutation, Missense, Nerve Tissue Proteins genetics
Published
2007

24. Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.

Author

Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Martinez MA, Gimenez A, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Sequence genetics, Codon genetics, Humans, Molecular Sequence Data, Eye Proteins genetics, Membrane Proteins genetics, Mutation, Missense genetics, Nerve Tissue Proteins genetics, Retinitis Pigmentosa genetics
Published
2007

25. Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

Author

Lamban JA, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Villaverde C, Avila-Fernandez A, Lopez-Martinez MA, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Sequence genetics, Codon genetics, Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Macular Degeneration genetics, Mutation, Missense genetics
Published
2007

29. Gene symbol: CRB1.

Author

Vallespin E, Riveiro-Alvarez R, Cantalapiedra D, Aguirre-Lambam J, Avila-Fernandez A, Lopez-Gimenez-Pardo A, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Humans, Eye Proteins genetics, Membrane Proteins genetics, Mutation, Nerve Tissue Proteins genetics, Optic Atrophy, Hereditary, Leber genetics
Published
2007

30. Gene symbol: CRB1.

Author

Vallespin E, Riveiro-Alvarez R, Cantalapiedra D, Aguirre-Lambam J, Avila-Fernandez A, Lopez-Martinez MA, Gallego-Merlo J, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Codon, Gene Deletion, Humans, Eye Proteins genetics, Membrane Proteins genetics, Nerve Tissue Proteins genetics, Optic Atrophy, Hereditary, Leber genetics
Published
2007

31. Gene symbol: CRB1.

Author

Vallespin E, Millan JM, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Gallego J, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Substitution, Codon, Nonsense, Humans, Mutation, Missense, Eye Proteins genetics, Membrane Proteins genetics, Nerve Tissue Proteins genetics, Optic Atrophy, Hereditary, Leber genetics
Published
2007

32. Gene symbol: NDP. Disease: Norrie disease.

Author

Riveiro-Alvarez R, Trujillo MJ, Gimenez A, Cantalapiedra D, Vallespin E, Villaverde C, and Ayuso C

Subjects
Amino Acid Substitution genetics, Deafness genetics, Humans, Male, Mutation, Missense, Retinal Detachment genetics, Eye Diseases, Hereditary genetics, Eye Proteins genetics, Mental Retardation, X-Linked genetics, Nerve Tissue Proteins genetics
Published
2006

33. Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.

Author

Vallespin E, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Tapias I, Garcia-Sandoval B, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Age of Onset, Amino Acid Substitution genetics, Humans, Mutation, Missense, Eye Proteins genetics, Membrane Proteins genetics, Nerve Tissue Proteins genetics, Retinitis Pigmentosa genetics
Published
2006

34. Gene symbol: ABCA4. Disease: Stargardt disease 1.

Author

Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, and Ayuso C

Subjects
Codon, Nonsense, Humans, Mutation, Missense, ATP-Binding Cassette Transporters genetics, Macular Degeneration genetics
Published
2006

35. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537.

Author

Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, and Ayuso C

Subjects
Amino Acid Substitution, Humans, Microarray Analysis, Mutation, Missense, ATP-Binding Cassette Transporters genetics, Eye Diseases, Hereditary genetics
Published
2006

36. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538.

Author

Riveiro-Alvarez R, Aguirre J, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, and Ayuso C

Subjects
Amino Acid Substitution, Humans, Microarray Analysis, Mutation, Missense, ATP-Binding Cassette Transporters genetics, Eye Diseases, Hereditary genetics
Published
2006

37. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hs0512.

Author

Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, and Ayuso C

Subjects
Humans, Microarray Analysis, Point Mutation, RNA Splice Sites genetics, ATP-Binding Cassette Transporters genetics, Eye Diseases, Hereditary genetics
Published
2006

38. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536.

Author

Riveiro-Alvarez R, Trujillo MJ, Cantalapiedra D, Vallespin E, Villaverde C, Valverde D, and Ayuso C

Subjects
Amino Acid Substitution, Humans, Microarray Analysis, Mutation, Missense, ATP-Binding Cassette Transporters genetics, Eye Diseases, Hereditary genetics
Published
2006

39. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Author

Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyas M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, and Ayuso C

Subjects
DNA Mutational Analysis, Eye Proteins, Humans, Macular Degeneration etiology, Macular Degeneration genetics, Male, DNA Transposable Elements, Retinoschisis genetics
Published
2005

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