Soria JM - Search Results

1

Clustering of individuals given SNPs similarity based on normalized mutual information: F7 SNPs in the GAIT sample.

Perera A, Buil A, Di Bernardo MC, Sabater-Lleal M, Pattini L, Souto JC, Fontcuberta J, Vallverdu M, Soria JM, Caminal P. Perera A, et al. Among authors: soria jm. Annu Int Conf IEEE Eng Med Biol Soc. 2007;2007:123-6. doi: 10.1109/IEMBS.2007.4352238. Annu Int Conf IEEE Eng Med Biol Soc. 2007. PMID: 18001904

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

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

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

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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