Espinós C - Search Results

1

Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene.

Casaña P, Martínez F, Haya S, Espinós C, Aznar JA. Casaña P, et al. Among authors: espinos c. Br J Haematol. 2001 Dec;115(3):692-700. doi: 10.1046/j.1365-2141.2001.03132.x. Br J Haematol. 2001. PMID: 11736956 Free article.

2

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants.

Casaña P, Martínez F, Espinós C, Haya S, Lorenzo JI, Aznar JA. Casaña P, et al. Among authors: espinos c. Am J Hematol. 1998 Sep;59(1):57-63. doi: 10.1002/(sici)1096-8652(199809)59:1<57::aid-ajh11>3.0.co;2-z. Am J Hematol. 1998. PMID: 9723578 Free article.

3

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.

Casaña P, Martínez F, Haya S, Lorenzo JI, Espinós C, Aznar JA. Casaña P, et al. Among authors: espinos c. Br J Haematol. 2000 Nov;111(2):552-5. doi: 10.1046/j.1365-2141.2000.02410.x. Br J Haematol. 2000. PMID: 11122100 Free article.

4

Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease.

Casaña P, Martínez F, Haya S, Espinós C, Aznar JA. Casaña P, et al. Among authors: espinos c. Ann Hematol. 2001 Jul;80(7):381-3. doi: 10.1007/s002770100307. Ann Hematol. 2001. PMID: 11529461

5

Severe and moderate hemophilia A: identification of 38 new genetic alterations.

Casaña P, Cabrera N, Cid AR, Haya S, Beneyto M, Espinós C, Cortina V, Dasí MA, Aznar JA. Casaña P, et al. Among authors: espinos c. Haematologica. 2008 Jul;93(7):1091-4. doi: 10.3324/haematol.12344. Epub 2008 Apr 9. Haematologica. 2008. PMID: 18403393 Free article.

6

Diagnosis of two related carriers of severe haemophilia B with no family history.

Lorenzo JI, Casaña P, Espinós C, Ferrer R, Aznar JA. Lorenzo JI, et al. Among authors: espinos c. Haemophilia. 2000 May;6(3):195-7. doi: 10.1046/j.1365-2516.2000.00389.x. Haemophilia. 2000. PMID: 10792479

7

Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome.

Espinós C, Lorenzo JI, Casaña P, Martínez F, Aznar JA. Espinós C, et al. Haematologica. 2000 Oct;85(10):1092-5. Haematologica. 2000. PMID: 11025603

8

Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.

Espinós C, Casaña P, Haya S, Cid AR, Aznar JA. Espinós C, et al. Haematologica. 2003 Feb;88(2):235-6. Haematologica. 2003. PMID: 12604421 No abstract available.

9

The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

Aller E, Larrieu L, Jaijo T, Baux D, Espinós C, González-Candelas F, Nájera C, Palau F, Claustres M, Roux AF, Millán JM. Aller E, et al. Among authors: espinos c. Eur J Hum Genet. 2010 Jul;18(7):788-93. doi: 10.1038/ejhg.2010.14. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145675 Free PMC article.

10

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

García-García G, Aparisi MJ, Rodrigo R, Sequedo MD, Espinós C, Rosell J, Olea JL, Mendívil MP, Ramos-Arroyo MA, Ayuso C, Jaijo T, Aller E, Millán JM. García-García G, et al. Among authors: espinos c. Mol Vis. 2012;18:3070-8. Epub 2012 Dec 29. Mol Vis. 2012. PMID: 23304067 Free PMC article.

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