Estivill X - Search Results

1

Aberrant RNA splicing of the protein C and protein S genes in healthy individuals.

Berg LP, Soria JM, Formstone CJ, Morell M, Kakkar VV, Estivill X, Sala N, Cooper DN. Berg LP, et al. Among authors: estivill x. Blood Coagul Fibrinolysis. 1996 Sep;7(6):625-31. doi: 10.1097/00001721-199609000-00008. Blood Coagul Fibrinolysis. 1996. PMID: 8899152

2

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: estivill x. Thromb Haemost. 1996 Jun;75(6):870-6. Thromb Haemost. 1996. PMID: 8822578

3

Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G --> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency.

Soria JM, Morell M, Nicolau I, Estivill X, Sala N. Soria JM, et al. Among authors: estivill x. Blood Coagul Fibrinolysis. 1996 Jan;7(1):15-23. doi: 10.1097/00001721-199601000-00002. Blood Coagul Fibrinolysis. 1996. PMID: 8845458

4

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: estivill x. Hum Mutat. 1992;1(5):428-31. doi: 10.1002/humu.1380010514. Hum Mutat. 1992. PMID: 1301954

5

A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene.

Soria JM, Morell M, Estivill X, Sala N. Soria JM, et al. Among authors: estivill x. Hum Genet. 1995 Aug;96(2):243-4. doi: 10.1007/BF00207392. Hum Genet. 1995. PMID: 7635483

6

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: estivill x. Thromb Haemost. 1994 Jul;72(1):65-9. Thromb Haemost. 1994. PMID: 7974377

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

8

Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene.

Soria JM, Morell M, Jiménez-Astorga C, Estivill X, Sala N. Soria JM, et al. Among authors: estivill x. Thromb Haemost. 1995 Nov;74(5):1215-20. Thromb Haemost. 1995. PMID: 8607097

9

Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients.

Soria JM, Morell M, Estivill X, Sala N. Soria JM, et al. Among authors: estivill x. Hum Mutat. 1996;8(1):71-3. doi: 10.1002/(SICI)1098-1004(1996)8:1<71::AID-HUMU10>3.0.CO;2-O. Hum Mutat. 1996. PMID: 8807339 No abstract available.

10

Homozygosity for the protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors.

Espinosa-Parrilla Y, Navarro G, Morell M, Abella E, Estivill X, Sala N. Espinosa-Parrilla Y, et al. Among authors: estivill x. Thromb Haemost. 2000 Jan;83(1):102-6. Thromb Haemost. 2000. PMID: 10669162

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