Reiss J - Search Results

1

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: reiss j. Genomics. 1992 Aug;13(4):1359-61. doi: 10.1016/0888-7543(92)90070-9. Genomics. 1992. PMID: 1505975

2

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA.

Berg LP, Wieland K, Millar DS, Schlösser M, Wagner M, Kakkar VV, Reiss J, Cooper DN. Berg LP, et al. Among authors: reiss j. Hum Genet. 1990 Oct;85(6):655-8. doi: 10.1007/BF00193593. Hum Genet. 1990. PMID: 2121641

3

Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease.

Cooper DN, Berg LP, Kakkar VV, Reiss J. Cooper DN, et al. Among authors: reiss j. Ann Med. 1994 Feb;26(1):9-14. doi: 10.3109/07853899409147321. Ann Med. 1994. PMID: 8166994 Free article. Review.

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: reiss j. Hum Genet. 1992 Aug;89(6):615-9. doi: 10.1007/BF00221949. Hum Genet. 1992. PMID: 1380942

5

Identification of a new DMD gene deletion by ectopic transcript analysis.

Rininsland F, Hahn A, Niemann-Seyde S, Slomski R, Hanefeld F, Reiss J. Rininsland F, et al. Among authors: reiss j. J Med Genet. 1992 Sep;29(9):647-51. doi: 10.1136/jmg.29.9.647. J Med Genet. 1992. PMID: 1383546 Free PMC article.

6

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.

Krawczak M, Reiss J, Cooper DN. Krawczak M, et al. Among authors: reiss j. Hum Genet. 1992 Sep-Oct;90(1-2):41-54. doi: 10.1007/BF00210743. Hum Genet. 1992. PMID: 1427786

7

Characterization of pathological dystrophin transcripts from the lymphocytes of a muscular dystrophy carrier.

Schloesser M, Slomski R, Wagner M, Reiss J, Berg LP, Kakkar VV, Cooper DN. Schloesser M, et al. Among authors: reiss j. Mol Biol Med. 1990 Dec;7(6):519-23. Mol Biol Med. 1990. PMID: 1706453

8

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

Reiss J, Cooper DN, Bal J, Slomski R, Cutting GR, Krawczak M. Reiss J, et al. Hum Genet. 1991 Aug;87(4):457-61. doi: 10.1007/BF00197168. Hum Genet. 1991. PMID: 1715309

9

The effect of replication errors on the mismatch analysis of PCR-amplified DNA.

Reiss J, Krawczak M, Schloesser M, Wagner M, Cooper DN. Reiss J, et al. Nucleic Acids Res. 1990 Feb 25;18(4):973-8. doi: 10.1093/nar/18.4.973. Nucleic Acids Res. 1990. PMID: 2315047 Free PMC article.

10

Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences.

Hentemann M, Reiss J, Wagner M, Cooper DN. Hentemann M, et al. Among authors: reiss j. Hum Genet. 1990 Feb;84(3):228-32. doi: 10.1007/BF00200564. Hum Genet. 1990. PMID: 2303244

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