Stuhrmann M - Search Results

1

Genotype-phenotype correlations in cystic fibrosis patients.

Stuhrmann M, Dörk T, Krawczak M, Dueck M, Banholzer U, Domagk J, Hoffknecht N, Posselt HG, Reis A, Schlösser M, et al. Stuhrmann M, et al. Adv Exp Med Biol. 1991;290:97-101; discussion 102-3. doi: 10.1007/978-1-4684-5934-0_12. Adv Exp Med Biol. 1991. PMID: 1719773

2

Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population.

Reis A, Bremer S, Schlösser M, Dueck M, Böhm I, Hundrieser J, Macek M, Stuhrmann M, Wagner M, Dörk T, et al. Reis A, et al. Among authors: stuhrmann m. Hum Genet. 1990 Sep;85(4):421-2. doi: 10.1007/BF02428292. Hum Genet. 1990. PMID: 2210758

3

CFTR gene mutations and male infertility.

Stuhrmann M, Dörk T. Stuhrmann M, et al. Andrologia. 2000 Mar;32(2):71-83. doi: 10.1046/j.1439-0272.2000.00327.x. Andrologia. 2000. PMID: 10755189 Review.

4

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. Lancet. 1990 Mar 24;335(8691):738-9. doi: 10.1016/0140-6736(90)90862-y. Lancet. 1990. PMID: 1690328 No abstract available.

5

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

Macek M Jr, Vavrova V, Boehm I, Stuhrmann M, Reis A, Macek M, Duspisova R, Jelinkova E, Sperling K, Krawczak M, et al. Macek M Jr, et al. Among authors: stuhrmann m. Adv Exp Med Biol. 1991;290:373-5. doi: 10.1007/978-1-4684-5934-0_42. Adv Exp Med Biol. 1991. PMID: 1950752 No abstract available.

6

Frequency of the F508 deletion in the CFTR gene in Turkish cystic fibrosis patients.

Hundrieser J, Bremer S, Peinemann F, Stuhrmann M, Hoffknecht N, Wulf B, Schmidtke J, Reiss J, Maass G, Tümmler B. Hundrieser J, et al. Among authors: stuhrmann m. Hum Genet. 1990 Sep;85(4):409-10. doi: 10.1007/BF02428283. Hum Genet. 1990. PMID: 2210752

7

Severity of disease in cystic fibrosis.

Dörk T, Stuhrmann M. Dörk T, et al. Among authors: stuhrmann m. Lancet. 1995 Oct 14;346(8981):1036-7. Lancet. 1995. PMID: 7475569 No abstract available.

8

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

Will K, Dörk T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tümmler B, Schmidtke J. Will K, et al. Among authors: stuhrmann m. J Clin Invest. 1994 Apr;93(4):1852-9. doi: 10.1172/JCI117172. J Clin Invest. 1994. PMID: 7512993 Free PMC article.

9

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.

Will K, Dörk T, Stuhrmann M, von der Hardt H, Ellemunter H, Tümmler B, Schmidtke J. Will K, et al. Among authors: stuhrmann m. Hum Mutat. 1995;5(3):210-20. doi: 10.1002/humu.1380050305. Hum Mutat. 1995. PMID: 7541274

10

Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis.

Stuhrmann M, Graf N, Dörk T, Schmidtke J. Stuhrmann M, et al. Eur J Pediatr. 2000 Dec;159 Suppl 3:S186-91. doi: 10.1007/pl00014400. Eur J Pediatr. 2000. PMID: 11216897 Review.

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