Schmidtke J - Search Results

1

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.

Stephens JC, Reich DE, Goldstein DB, Shin HD, Smith MW, Carrington M, Winkler C, Huttley GA, Allikmets R, Schriml L, Gerrard B, Malasky M, Ramos MD, Morlot S, Tzetis M, Oddoux C, di Giovine FS, Nasioulas G, Chandler D, Aseev M, Hanson M, Kalaydjieva L, Glavac D, Gasparini P, Kanavakis E, Claustres M, Kambouris M, Ostrer H, Duff G, Baranov V, Sibul H, Metspalu A, Goldman D, Martin N, Duffy D, Schmidtke J, Estivill X, O'Brien SJ, Dean M. Stephens JC, et al. Among authors: schmidtke j. Am J Hum Genet. 1998 Jun;62(6):1507-15. doi: 10.1086/301867. Am J Hum Genet. 1998. PMID: 9585595 Free PMC article.

2

Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.

Dörk T, El-Harith EH, Stuhrmann M, Macek M Jr, Egan M, Cutting GR, Tzetis M, Kanavakis E, Carles S, Claustres M, Padoa C, Ramsay M, Schmidtke J. Dörk T, et al. Among authors: schmidtke j. Am J Hum Genet. 1998 Aug;63(2):656-62. doi: 10.1086/301950. Am J Hum Genet. 1998. PMID: 9683582 Free PMC article. No abstract available.

3

Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13).

Estivill X, Schmidtke J, Williamson R, Wainwright B. Estivill X, et al. Among authors: schmidtke j. Hum Genet. 1986 Nov;74(3):320-2. doi: 10.1007/BF00282558. Hum Genet. 1986. PMID: 2877942

4

Alternative splicing in the first nucleotide binding fold of CFTR.

Will K, Stuhrmann M, Dean M, Schmidtke J. Will K, et al. Among authors: schmidtke j. Hum Mol Genet. 1993 Mar;2(3):231-5. doi: 10.1093/hmg/2.3.231. Hum Mol Genet. 1993. PMID: 7684642

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

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

7

Geographic distribution and origin of CFTR mutations in Germany.

Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schröder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze MJ, Schmidt K, von der Hardt H, Estivill X. Tümmler B, et al. Among authors: schmidtke j. Hum Genet. 1996 Jun;97(6):727-31. doi: 10.1007/BF02346181. Hum Genet. 1996. PMID: 8641688

8

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: schmidtke j. Hum Genet. 1990 Sep;85(4):409-10. doi: 10.1007/BF02428283. Hum Genet. 1990. PMID: 2210752

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: schmidtke j. 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

Regional mapping of six cloned DNA sequences on human chromosome 7.

Bartels I, Grzeschik KH, Cooper DN, Schmidtke J. Bartels I, et al. Among authors: schmidtke j. Am J Hum Genet. 1986 Mar;38(3):280-7. Am J Hum Genet. 1986. PMID: 3456704 Free PMC article.

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