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Your search keyword '"Cantalapiedra D"' showing total 26 results
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26 results on '"Cantalapiedra D"'

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

Author

Ja, Lamban, Riveiro-Alvarez R, Cantalapiedra D, Elena Vallespin, Villaverde C, Avila-Fernandez A, Ma, Lopez-Martinez, Mj, Trujillo-Tiebas, and Ayuso C

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

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

Author

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

Subjects
Macular Degeneration, Membrane Glycoproteins, Amino Acid Substitution, Intermediate Filament Proteins, Mutation, Missense, Peripherins, Humans, Nerve Tissue Proteins, Codon
Published
2008

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

Author

Riveiro-Alvarez R, Mj, Trujillo, Cantalapiedra D, Elena Vallespin, Villaverde C, Valverde D, and Ayuso C

Subjects
Amino Acid Substitution, Mutation, Missense, Humans, ATP-Binding Cassette Transporters, Eye Diseases, Hereditary, Microarray Analysis
Published
2007

6. 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

8. Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.

Author

Vallespin E, Avila-Fernandez A, Velez-Monsalve C, Almoguera B, Martinez-Garcia M, Gomez-Dominguez B, Gonzalez-Roubaud C, Cantalapiedra D, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Codon genetics, Humans, Eye Proteins genetics, Leber Congenital Amaurosis genetics, Membrane Proteins genetics, Mutation, Missense, Nerve Tissue Proteins genetics
Published
2010

9. 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

10. 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

11. Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.

Author

Auz-Alexandre CL, Vallespin E, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Ainse E, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Substitution, Codon genetics, Humans, Molecular Sequence Data, Blindness congenital, Blindness genetics, Guanylate Cyclase genetics, Mutation, Missense, Optic Atrophy, Hereditary, Leber genetics, Receptors, Cell Surface genetics
Published
2009

12. 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

13. 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

14. 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

15. Gene symbol: CHM. Disease: Choroideraemia.

Author

Villaverde C, Trujillo-Tiebas MJ, López-Martinez MA, Giménez-Pardo A, Cantalapiedra D, Vallespin E, García-Hoyos M, and Ayuso C

Subjects
Choroideremia ethnology, Exons, Humans, Male, Point Mutation, Spain, Adaptor Proteins, Signal Transducing genetics, Amino Acid Substitution, Choroideremia genetics, Codon genetics, Codon, Nonsense
Published
2008

16. 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

17. 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

18. 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

19. 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

21. 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

22. 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

23. 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

24. 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

25. Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534.

Author

Vallespin E, Cantalapiedra D, Garcia-Hoyos M, Riveiro R, Villaverde C, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Substitution, Humans, Mutation, Missense, Eye Proteins genetics, Membrane Proteins genetics, Nerve Tissue Proteins genetics, Optic Atrophy, Hereditary, Leber genetics
Published
2006

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

Author

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

Subjects
Amino Acid Substitution, Codon, Nonsense, DNA Mutational Analysis, Humans, Macular Degeneration etiology, Macular Degeneration genetics, Male, Eye Proteins genetics, Mutation, Missense, Retinoschisis genetics
Published
2005

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