Slomski R - Search Results

1

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

2

Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy.

Niemann-Seyde S, Slomski R, Rininsland F, Ellermeyer U, Kwiatkowska J, Reiss J. Niemann-Seyde S, et al. Among authors: slomski r. Hum Genet. 1992 Sep-Oct;90(1-2):65-70. doi: 10.1007/BF00210746. Hum Genet. 1992. PMID: 1427789

3

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: slomski r. Mol Biol Med. 1990 Dec;7(6):519-23. Mol Biol Med. 1990. PMID: 1706453

4

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. Among authors: slomski r. Hum Genet. 1991 Aug;87(4):457-61. doi: 10.1007/BF00197168. Hum Genet. 1991. PMID: 1715309

5

Detection of human spermatid-specific transcripts in peripheral blood lymphocytes of males and females.

Slomski R, Schloesser M, Chlebowska H, Reiss J, Engel W. Slomski R, et al. Hum Genet. 1991 Jul;87(3):307-10. doi: 10.1007/BF00200909. Hum Genet. 1991. PMID: 1907596

6

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: slomski r. 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.

7

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

8

Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.

Slomski R, Braulke I, Behrend C, Schröder E, Colombo JP, Reiss J. Slomski R, et al. Hum Genet. 1992 Aug;89(6):632-4. doi: 10.1007/BF00221953. Hum Genet. 1992. PMID: 1511981

9

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

Will K, Reiss J, Dean M, Schlösser M, Slomski R, Schmidtke J, Stuhrmann M. Will K, et al. Among authors: slomski r. J Med Genet. 1993 Oct;30(10):833-7. doi: 10.1136/jmg.30.10.833. J Med Genet. 1993. PMID: 7693946 Free PMC article.

10

Application of non-radioactive methods of DNA detection in analysis of human genetic disorders.

Słomski R, Reiss J, Jungerman M. Słomski R, et al. Acta Biochim Pol. 1989;36(3-4):311-21. Acta Biochim Pol. 1989. PMID: 2486006

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