Stuhrmann M - Search Results

1

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Sandoval N, Platzer M, Rosenthal A, Dörk T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D. Sandoval N, et al. Among authors: stuhrmann m. Hum Mol Genet. 1999 Jan;8(1):69-79. doi: 10.1093/hmg/8.1.69. Hum Mol Genet. 1999. PMID: 9887333

2

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: stuhrmann m. Mol Cell Probes. 1997 Feb;11(1):71-3. doi: 10.1006/mcpr.1996.0079. Mol Cell Probes. 1997. PMID: 9076718

3

Polymorphisms of the human beta-defensin-1 gene.

Dörk T, Stuhrmann M. Dörk T, et al. Among authors: stuhrmann m. Mol Cell Probes. 1998 Jun;12(3):171-3. doi: 10.1006/mcpr.1998.0165. Mol Cell Probes. 1998. PMID: 9664579

4

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.

Dörk T, Kälin N, Stuhrmann M, Schmidtke J, Tümmler B. Dörk T, et al. Among authors: stuhrmann m. Hum Genet. 1992 Nov;90(3):279-84. doi: 10.1007/BF00220079. Hum Genet. 1992. PMID: 1283149

5

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Dörk T, et al. Among authors: stuhrmann m. Hum Genet. 1997 Sep;100(3-4):365-77. doi: 10.1007/s004390050518. Hum Genet. 1997. PMID: 9272157

6

Detection of 100% of the CFTR mutations in 63 CF families from Tyrol.

Stuhrmann M, Dörk T, Frühwirth M, Golla A, Skawran B, Antonin W, Ebhardt M, Loos A, Ellemunter H, Schmidtke J. Stuhrmann M, et al. Clin Genet. 1997 Oct;52(4):240-6. doi: 10.1111/j.1399-0004.1997.tb02555.x. Clin Genet. 1997. PMID: 9383031

7

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.

8

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. Among authors: stuhrmann m. Hum Genet. 2000 Mar;106(3):259-68. doi: 10.1007/s004390000246. Hum Genet. 2000. PMID: 10798353

9

Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.

Dörk T, Bendix R, Bremer M, Rades D, Klöpper K, Nicke M, Skawran B, Hector A, Yamini P, Steinmann D, Weise S, Stuhrmann M, Karstens JH. Dörk T, et al. Among authors: stuhrmann m. Cancer Res. 2001 Oct 15;61(20):7608-15. Cancer Res. 2001. PMID: 11606401

10

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

Stuhrmann M, Heilbronner H, Reis A, Wegner RD, Fischer P, Schmidtke J. Stuhrmann M, et al. Hum Genet. 1991 Feb;86(4):414-5. doi: 10.1007/BF00201848. Hum Genet. 1991. PMID: 1999345

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