Cooper DN - Search Results

1

Identification of an intronic regulatory element in the human protein C (PROC) gene.

Shamsher MK, Chuzhanova NA, Friedman B, Scopes DA, Alhaq A, Millar DS, Cooper DN, Berg LP. Shamsher MK, et al. Among authors: cooper dn. Hum Genet. 2000 Nov;107(5):458-65. doi: 10.1007/s004390000391. Hum Genet. 2000. PMID: 11140943

2

Prenatal exclusion of severe factor VII deficiency by DNA sequencing.

Millar DS, Cooper DN, Kakkar VV, Schwartz M, Scheibel E. Millar DS, et al. Among authors: cooper dn. Lancet. 1992 May 30;339(8805):1359. doi: 10.1016/0140-6736(92)92005-z. Lancet. 1992. PMID: 1350022 No abstract available.

3

Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion.

Schwartz M, Cooper DN, Millar DS, Kakkar VV, Scheibel E. Schwartz M, et al. Among authors: cooper dn. Prenat Diagn. 1992 Nov;12(11):861-6. doi: 10.1002/pd.1970121103. Prenat Diagn. 1992. PMID: 1362983

4

Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts.

Slomski R, Schloesser M, Berg LP, Wagner M, Kakkar VV, Cooper DN, Reiss J. Slomski R, et al. Among authors: cooper dn. Hum Genet. 1992 Aug;89(6):615-9. doi: 10.1007/BF00221949. Hum Genet. 1992. PMID: 1380942

5

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.

Berg LP, Grundy CB, Thomas F, Millar DS, Green PJ, Slomski R, Reiss J, Kakkar VV, Cooper DN. Berg LP, et al. Among authors: cooper dn. Genomics. 1992 Aug;13(4):1359-61. doi: 10.1016/0888-7543(92)90070-9. Genomics. 1992. PMID: 1505975

6

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.

Grundy CB, Chisholm M, Kakkar VV, Cooper DN. Grundy CB, et al. Among authors: cooper dn. Hum Genet. 1992 Aug;89(6):683-4. doi: 10.1007/BF00221963. Hum Genet. 1992. PMID: 1511988

7

Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.

Grundy CB, Schulman S, Tengborn L, Kakkar VV, Cooper DN. Grundy CB, et al. Among authors: cooper dn. Hum Genet. 1992 Aug;89(6):685-6. doi: 10.1007/BF00221964. Hum Genet. 1992. PMID: 1511989

8

A novel missense mutation in the antithrombin III gene (Ser349----Pro) causing recurrent venous thrombosis.

Grundy CB, Holding S, Millar DS, Kakkar VV, Cooper DN. Grundy CB, et al. Among authors: cooper dn. Hum Genet. 1992 Mar;88(6):707-8. doi: 10.1007/BF02265306. Hum Genet. 1992. PMID: 1551681 No abstract available.

9

Mechanisms of insertional mutagenesis in human genes causing genetic disease.

Cooper DN, Krawczak M. Cooper DN, et al. Hum Genet. 1991 Aug;87(4):409-15. doi: 10.1007/BF00197158. Hum Genet. 1991. PMID: 1652548

10

Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus.

Jedlicka P, Greer S, Millar DS, Grundy CB, Jenkins E, Mitchell M, Mibashan RS, Kakkar VV, Cooper DN. Jedlicka P, et al. Among authors: cooper dn. Hum Genet. 1990 Aug;85(3):315-8. doi: 10.1007/BF00206753. Hum Genet. 1990. PMID: 1697559

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