Cooper DN - Search Results

1

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

2

Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.

Grundy CB, Schulman S, Krawczak M, Kobosko J, Kakkar VV, Cooper DN. Grundy CB, et al. Among authors: cooper dn. Hum Genet. 1992 Mar;88(5):586-8. doi: 10.1007/BF00219350. Hum Genet. 1992. PMID: 1348046

3

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.

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

A novel missense mutation in the antithrombin III gene (Ala387-->Val) causing recurrent venous thrombosis.

White D, Abraham G, Carter C, Kakkar VV, Cooper DN. White D, et al. Among authors: cooper dn. Hum Genet. 1992 Dec;90(4):472-3. doi: 10.1007/BF00220482. Hum Genet. 1992. PMID: 1483709 No abstract available.

6

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

7

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

8

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

9

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.

10

Late-onset homozygous protein C deficiency.

Grundy CB, Melissari E, Lindo V, Scully MF, Kakkar VV, Cooper DN. Grundy CB, et al. Among authors: cooper dn. Lancet. 1991 Aug 31;338(8766):575-6. doi: 10.1016/0140-6736(91)91144-j. Lancet. 1991. PMID: 1678832 No abstract available.

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