Fontcuberta J - Search Results

1

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. Among authors: fontcuberta j. Thromb Haemost. 1994 Jul;72(1):65-9. Thromb Haemost. 1994. PMID: 7974377

2

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. Among authors: fontcuberta j. 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.

3

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. Among authors: fontcuberta j. Hum Genet. 1993 Nov;92(5):506-8. doi: 10.1007/BF00216459. Hum Genet. 1993. PMID: 8244342

4

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. Among authors: fontcuberta j. Thromb Haemost. 1996 Jun;75(6):870-6. Thromb Haemost. 1996. PMID: 8822578

5

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.

Espinosa-Parrilla Y, Morell M, Souto JC, Tirado I, Fontcuberta J, Estivill X, Sala N. Espinosa-Parrilla Y, et al. Among authors: fontcuberta j. Hum Mutat. 1999;14(1):30-9. doi: 10.1002/(SICI)1098-1004(1999)14:1<30::AID-HUMU4>3.0.CO;2-X. Hum Mutat. 1999. PMID: 10447256

6

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. Among authors: fontcuberta j. Hum Mutat. 1992;1(5):428-31. doi: 10.1002/humu.1380010514. Hum Mutat. 1992. PMID: 1301954

7

Laboratory evaluation and clinical characteristics of 2,132 consecutive unselected patients with venous thromboembolism--results of the Spanish Multicentric Study on Thrombophilia (EMET-Study).

Mateo J, Oliver A, Borrell M, Sala N, Fontcuberta J. Mateo J, et al. Among authors: fontcuberta j. Thromb Haemost. 1997 Mar;77(3):444-51. Thromb Haemost. 1997. PMID: 9065991

8

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.

Espinosa-Parrilla Y, Morell M, Borrell M, Souto JC, Fontcuberta J, Estivill X, Sala N. Espinosa-Parrilla Y, et al. Among authors: fontcuberta j. Hum Mutat. 2000;15(5):463-73. doi: 10.1002/(SICI)1098-1004(200005)15:5<463::AID-HUMU8>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10790208

9

[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. Among authors: fontcuberta j. Med Clin (Barc). 1992 Nov 21;99(17):649-52. Med Clin (Barc). 1992. PMID: 1280311 Review. Spanish.

10

New biological concepts on coagulation inhibitors.

Sala N, Fontcuberta J, Rutllant ML. Sala N, et al. Among authors: fontcuberta j. Intensive Care Med. 1993;19 Suppl 1:S3-7. doi: 10.1007/BF01738943. Intensive Care Med. 1993. PMID: 8227737 Review. No abstract available.

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