Soria JM - Search Results

1

A new locus on chromosome 18 that influences normal variation in activated protein C resistance phenotype and factor VIII activity and its relation to thrombosis susceptibility.

Soria JM, Almasy L, Souto JC, Buil A, Martinez-Sanchez E, Mateo J, Borrell M, Stone WH, Lathrop M, Fontcuberta J, Blangero J. Soria JM, et al. Blood. 2003 Jan 1;101(1):163-7. doi: 10.1182/blood-2002-06-1792. Epub 2002 Aug 15. Blood. 2003. PMID: 12393556 Free article.

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

Abnormal polymerization and normal binding of plasminogen and t-PA in three new dysfibrinogenaemias: Barcelona III and IV (gamma Arg 275-->His) and Villajoyosa (gamma Arg 275-->Cys).

Borrell M, Garí M, Coll I, Vallvé C, Tirado I, Soria JM, Sala N, Muñoz C, Oliver A, García A, et al. Borrell M, et al. Among authors: soria jm. Blood Coagul Fibrinolysis. 1995 May;6(3):198-206. doi: 10.1097/00001721-199505000-00002. Blood Coagul Fibrinolysis. 1995. PMID: 7654933

5

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

6

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.

7

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

8

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

9

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

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

200 results

Search Page

Filters