Soria JM - Search Results

1

Heritability of hemostasis phenotypes and their correlation with type 2 diabetes status in Mexican Americans.

Warren DM, Soria JM, Souto JC, Comuzzie A, Fontcuberta J, Blangero J, MacCluer JW, Almasy L. Warren DM, et al. Among authors: soria jm. Hum Biol. 2005 Feb;77(1):1-15. doi: 10.1353/hub.2005.0034. Hum Biol. 2005. PMID: 16114812

2

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

3

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

4

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.

5

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

6

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

7

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.

8

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

9

Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia.

Souto JC, Almasy L, Borrell M, Blanco-Vaca F, Mateo J, Soria JM, Coll I, Felices R, Stone W, Fontcuberta J, Blangero J. Souto JC, et al. Among authors: soria jm. Am J Hum Genet. 2000 Dec;67(6):1452-9. doi: 10.1086/316903. Epub 2000 Oct 19. Am J Hum Genet. 2000. PMID: 11038326 Free PMC article.

10

Risk of thrombosis associated with oral contraceptives of women from 97 families with inherited thrombophilia: high risk of thrombosis in carriers of the G20210A mutation of the prothrombin gene.

Santamaría A, Mateo J, Oliver A, Menéndez B, Souto JC, Borrell M, Soria JM, Tirado I, Fontcuberta J. Santamaría A, et al. Among authors: soria jm. Haematologica. 2001 Sep;86(9):965-71. Haematologica. 2001. PMID: 11532625

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