Dörk T - Search Results

1

Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Morral N, Llevadot R, Casals T, Gasparini P, Macek M Jr, Dörk T, Estivill X. Morral N, et al. Among authors: dork t. Am J Hum Genet. 1994 Nov;55(5):890-8. Am J Hum Genet. 1994. PMID: 7526685 Free PMC article.

2

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.

Osborne L, Santis G, Schwarz M, Klinger K, Dörk T, McIntosh I, Schwartz M, Nunes V, Macek M Jr, Reiss J, et al. Osborne L, et al. Among authors: dork t. Hum Genet. 1992 Aug;89(6):653-8. doi: 10.1007/BF00221957. Hum Genet. 1992. PMID: 1380943

3

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

Chillón M, Dörk T, Casals T, Giménez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X. Chillón M, et al. Among authors: dork t. Am J Hum Genet. 1995 Mar;56(3):623-9. Am J Hum Genet. 1995. PMID: 7534040 Free PMC article.

4

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.

Nunes V, Chillón M, Dörk T, Tümmler B, Casals T, Estivill X. Nunes V, et al. Among authors: dork t. Hum Mol Genet. 1993 Jan;2(1):79-80. doi: 10.1093/hmg/2.1.79. Hum Mol Genet. 1993. PMID: 7683954 No abstract available.

5

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.

Morral N, Dörk T, Llevadot R, Dziadek V, Mercier B, Férec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tümmler B, Estivill X. Morral N, et al. Among authors: dork t. Hum Mutat. 1996;8(2):149-59. doi: 10.1002/(SICI)1098-1004(1996)8:2<149::AID-HUMU7>3.0.CO;2-6. Hum Mutat. 1996. PMID: 8844213

6

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

Dörk T, Macek M Jr, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek M Sr, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S. Dörk T, et al. Hum Genet. 2000 Mar;106(3):259-68. doi: 10.1007/s004390000246. Hum Genet. 2000. PMID: 10798353

7

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: dork t. Hum Genet. 1990 Sep;85(4):421-2. doi: 10.1007/BF02428292. Hum Genet. 1990. PMID: 2210758

8

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: dork t. Hum Genet. 1996 Jun;97(6):727-31. doi: 10.1007/BF02346181. Hum Genet. 1996. PMID: 8641688

9

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. 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.

10

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vásquez C, Pérez-Frías J, Olveira C, Cabanas R, Estivill X, Tzetis M, Kanavakis E, Doudounakis S, Dörk T, Tümmler B, Girodon-Boulandet E, Cazeneuve C, Goossens M, Blayau M, Verlingue C, Vieira I, Féréc C, Claustres M, des Georges M, Clavel C, Birembaut P, Hubert D, Bienvenu T, Adoun M, Chomel JC, De Boeck K, Cuppens H, Lavinha J. Amaral MD, et al. Among authors: dork t. J Med Genet. 2001 Nov;38(11):777-83. doi: 10.1136/jmg.38.11.777. J Med Genet. 2001. PMID: 11732487 Free PMC article. No abstract available.

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