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Your search keyword '"Palacín, M"' showing total 31 results
Start Over Author "Palacín, M" Journal human genetics
31 results on '"Palacín, M"'

1. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

2. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Amino Acid Substitution, Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

3. Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Author

Nunes M, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Humans, Mutation, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

4. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

5. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousad F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

6. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

7. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

8. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Amino Acid Substitution, Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

9. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Gene Deletion, Humans, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

10. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

11. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

12. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Humans, Mutation, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

13. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Gene Deletion, Humans, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

14. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

15. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

16. Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Gene Deletion, Humans, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

17. Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

18. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Gene Duplication, Humans, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

19. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

20. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Gene Deletion, Humans, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

21. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Gene Deletion, Gene Duplication, Humans, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

22. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Humans, Mutation, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

23. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

24. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

25. Gene symbol: SLC7A9. Disease: cystinuria, type I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Amino Acid Substitution, Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

26. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, font-Llitjós M, Jiménez-Vidal M, Bisceglia L, and Palacín M

Subjects
Codon, Nonsense, Humans, Mutation, Missense, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

27. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, and Nunes V

Subjects
Gene Deletion, Humans, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

28. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Humans, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics, Gene Deletion
Published
2005

29. Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, and Palacín M

Subjects
Humans, Mutation, Amino Acid Transport Systems, Basic genetics, Cystinuria genetics
Published
2005

30. Gene symbol: SLC3A1. Disease: cystinuria.

Author

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Biceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, and Nunes V

Subjects
Gene Deletion, Humans, Amino Acid Transport Systems, Basic genetics, Amino Acid Transport Systems, Neutral genetics, Cystinuria genetics
Published
2005

31. Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization.

Author

Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, and Nunes V

Subjects
Base Sequence, Biological Transport genetics, Chromosome Mapping, Chromosomes, Artificial, Yeast, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Molecular Sequence Data, Amino Acid Transport Systems, Basic, Carrier Proteins genetics, Chromosomes, Human, Pair 2 genetics, Cystinuria genetics, Membrane Glycoproteins genetics
Abstract

We have established rBAT (named as SLC3A1 in the Genome Data Base) as a gene responsible for cystinuria, a heritable disorder of amino acid transport. The cystinuria locus has been mapped by linkage between microsatellite markers D2S119 and D2S177. Fluorescence in situ hybridization (FISH) either with Alu-polymerase-chain-reaction (PCR)-amplified sequences of a yeast artificial chromosome (YAC) containing the rBAT gene or with rBAT-specific PCR-amplified genomic fragments, and chromosome G-banding have cytogenetically mapped rBAT to 2p16.3. In order to correlate the physical and genetic information on cystinuria, we have performed FISH with combinations of Alu-PCR-amplified sequences from YACs containing rBAT or the D2S119 and D2S177 loci. In all cases, a fused signal is obtained that demonstrates their close physical location; this allows the assignment of rBAT, cystinuria and their linked markers, D2S119 and D2S177, to 2p16.

Published
1995
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