Schmidtke J - Search Results

1

Cystic fibrosis marker testing in Bohemia with polymerase chain reaction.

Macek M Jr, Böhm I, Arnold L, Smrt J, Duspivová R, Vávrová V, Macek M, Jelínková E, Schmidtke J. Macek M Jr, et al. Among authors: schmidtke j. Acta Univ Carol Med (Praha). 1990;36(1-4):108-11. Acta Univ Carol Med (Praha). 1990. PMID: 2130670

2

The rapid molecular genetic diagnosis of cystic fibrosis by polymerase chain reaction: an experience report.

Macek M Jr, Boehm I, Arnold L, Smrt J, Macek M, Duspivová R, Vávrová V, Sedlácek Z, Sperling K, Schmidtke J. Macek M Jr, et al. Among authors: schmidtke j. Czech Med. 1990;13(4):145-59. Czech Med. 1990. PMID: 1981984

3

Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.

Macek M Jr, Vavrová V, Böhm I, Stuhrmann M, Reis A, Duspivová R, Macek M, Sperling K, Krawczak M, Schmidtke J. Macek M Jr, et al. Among authors: schmidtke j. Hum Genet. 1990 Sep;85(4):417-8. doi: 10.1007/BF02428289. Hum Genet. 1990. PMID: 2210755

4

[Experience with rapid molecular genetic diagnosis using the polymerase chain reaction].

Macek M Jr, Böhm I, Arnold L, Smrt J, Macek M, Duspivová R, Vávrová V, Sedlácek Z, Schmidtke J. Macek M Jr, et al. Among authors: schmidtke j. Cas Lek Cesk. 1990 May 11;129(19):590-5. Cas Lek Cesk. 1990. PMID: 2350781 Czech.

5

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival.

Macek M Jr, Macek M Sr, Krebsová A, Nash E, Hamosh A, Reis A, Varon-Mateeva R, Schmidtke J, Maestri NE, Sperling K, Krawczak M, Cutting GR. Macek M Jr, et al. Among authors: schmidtke j. Hum Genet. 1997 May;99(5):565-72. doi: 10.1007/s004390050407. Hum Genet. 1997. PMID: 9150719

6

Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency.

Stuhrmann M, Macek M Jr, Reis A, Schmidtke J, Tümmler B, Dörk T, Vavrova V, Macek M, Krawczak M. Stuhrmann M, et al. Among authors: schmidtke j. Lancet. 1990 Mar 24;335(8691):738-9. doi: 10.1016/0140-6736(90)90862-y. Lancet. 1990. PMID: 1690328 No abstract available.

7

PCR-based mutation analysis in cystic fibrosis.

Stuhrmann M, Schmidtke J. Stuhrmann M, et al. Among authors: schmidtke j. Ann Med. 1992 Jun;24(3):183-5. doi: 10.3109/07853899209147818. Ann Med. 1992. PMID: 1627313 Free article. No abstract available.

8

A cystic fibrosis patient homozygous for the nonsense mutation R553X.

Bal J, Stuhrmann M, Schloesser M, Schmidtke J, Reiss J. Bal J, et al. Among authors: schmidtke j. J Med Genet. 1991 Oct;28(10):715-7. doi: 10.1136/jmg.28.10.715. J Med Genet. 1991. PMID: 1682496 Free PMC article.

9

Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection.

el-Aleem AA, Böhm I, Temtamy S, el-Awady M, Awadalla M, Schmidtke J, Stuhrmann M. el-Aleem AA, et al. Among authors: schmidtke j. Hum Genet. 1995 Nov;96(5):577-84. doi: 10.1007/BF00197414. Hum Genet. 1995. PMID: 8530006

10

A frequent polymorphism of the gene mutated in ataxia telangiectasia.

Dörk T, Westermann S, Dittrich O, Twardowski M, Karstens JH, Schmidtke J, Stuhrmann M. Dörk T, et al. Among authors: schmidtke j. Mol Cell Probes. 1997 Feb;11(1):71-3. doi: 10.1006/mcpr.1996.0079. Mol Cell Probes. 1997. PMID: 9076718

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