Soria JM - Search Results

1

Protein C levels are regulated by a quantitative trait locus on chromosome 16: results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) Project.

Buil A, Soria JM, Souto JC, Almasy L, Lathrop M, Blangero J, Fontcuberta J. Buil A, et al. Among authors: soria jm. Arterioscler Thromb Vasc Biol. 2004 Jul;24(7):1321-5. doi: 10.1161/01.ATV.0000132408.13064.09. Epub 2004 May 13. Arterioscler Thromb Vasc Biol. 2004. PMID: 15142863

2

[Polymorphism MI detected through the enzyme MspI in the study of congenital protein C deficiency].

Soria JM, Ibáñez I, Fontcuberta J, Borrell M, Estivill X, Sala N. Soria JM, et al. Med Clin (Barc). 1992 Nov 21;99(17):649-52. Med Clin (Barc). 1992. PMID: 1280311 Review. Spanish.

3

Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families.

Soria JM, Fontcuberta J, Borrell M, Estivill X, Sala N. Soria JM, et al. Hum Mutat. 1992;1(5):428-31. doi: 10.1002/humu.1380010514. Hum Mutat. 1992. PMID: 1301954

4

Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene.

Soria JM, Brito D, Barceló J, Fontcuberta J, Botero L, Maldonado J, Estivill X, Sala N. Soria JM, et al. Thromb Haemost. 1994 Jul;72(1):65-9. Thromb Haemost. 1994. PMID: 7974377

5

Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency.

Soria JM, Fontcuberta J, Borrell M, Estivill X, Sala N. Soria JM, et al. Hum Mol Genet. 1994 Jul;3(7):1205-6. doi: 10.1093/hmg/3.7.1205. Hum Mol Genet. 1994. PMID: 7981702 No abstract available.

6

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency.

Soria JM, Fontcuberta J, Chillón M, Borrell M, Estivill X, Sala N. Soria JM, et al. Hum Genet. 1993 Nov;92(5):506-8. doi: 10.1007/BF00216459. Hum Genet. 1993. PMID: 8244342

7

Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene.

Soria JM, Berg LP, Fontcuberta J, Kakkar VV, Estivill X, Cooper DN, Sala N. Soria JM, et al. Thromb Haemost. 1996 Jun;75(6):870-6. Thromb Haemost. 1996. PMID: 8822578

8

Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.

Souto JC, Mateo J, Soria JM, Llobet D, Coll I, Borrell M, Fontcuberta J. Souto JC, et al. Among authors: soria jm. Haematologica. 1999 Jul;84(7):627-32. Haematologica. 1999. PMID: 10406905

9

Linkage analysis demonstrates that the prothrombin G20210A mutation jointly influences plasma prothrombin levels and risk of thrombosis.

Soria JM, Almasy L, Souto JC, Tirado I, Borell M, Mateo J, Slifer S, Stone W, Blangero J, Fontcuberta J. Soria JM, et al. Blood. 2000 May 1;95(9):2780-5. Blood. 2000. PMID: 10779421 Free article.

10

Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time.

Souto JC, Almasy L, Muñiz-Diaz E, Soria JM, Borrell M, Bayén L, Mateo J, Madoz P, Stone W, Blangero J, Fontcuberta J. Souto JC, et al. Among authors: soria jm. Arterioscler Thromb Vasc Biol. 2000 Aug;20(8):2024-8. doi: 10.1161/01.atv.20.8.2024. Arterioscler Thromb Vasc Biol. 2000. PMID: 10938027

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