Drechsler M - Search Results

1

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K, et al. Reis A, et al. Among authors: drechsler m. Nat Genet. 1994 Feb;6(2):174-9. doi: 10.1038/ng0294-174. Nat Genet. 1994. PMID: 7512862

2

Localization of the human CD59 gene by fluorescence in situ hybridization and pulsed-field gel electrophoresis.

Heckl-Ostreicher B, Ragg S, Drechsler M, Scherthan H, Royer-Pokora B. Heckl-Ostreicher B, et al. Among authors: drechsler m. Cytogenet Cell Genet. 1993;63(3):144-6. doi: 10.1159/000133522. Cytogenet Cell Genet. 1993. PMID: 7683594

3

Characterization of the transcriptional regulatory region of the human WT1 gene.

Hofmann W, Royer HD, Drechsler M, Schneider S, Royer-Pokora B. Hofmann W, et al. Among authors: drechsler m. Oncogene. 1993 Nov;8(11):3123-32. Oncogene. 1993. PMID: 8414514

4

A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia.

Drechsler M, Royer-Pokora B. Drechsler M, et al. Hum Genet. 1996 Sep;98(3):297-303. doi: 10.1007/s004390050210. Hum Genet. 1996. PMID: 8707297

5

Ten novel mutations found in Aniridia.

Wolf MT, Lorenz B, Winterpacht A, Drechsler M, Schumacher V, Royer-Pokora B, Blankenagel A, Zabel B, Wildhardt G. Wolf MT, et al. Among authors: drechsler m. Hum Mutat. 1998;12(5):304-13. doi: 10.1002/(SICI)1098-1004(1998)12:5<304::AID-HUMU3>3.0.CO;2-D. Hum Mutat. 1998. PMID: 9792406

6

Genomic structure, alternative transcripts and chromosome location of the human LIM domain binding protein 1 gene LDB1.

Drechsler M, Schumacher V, Friedrich S, Wildhardt G, Giesler S, Schroth A, Bodem J, Royer-Pokora B. Drechsler M, et al. Cytogenet Cell Genet. 1999;87(1-2):119-24. doi: 10.1159/000015377. Cytogenet Cell Genet. 1999. PMID: 10640831

7

Refined mapping of allele loss at chromosome 10q23-26 in prostate cancer.

Leube B, Drechsler M, Mühlmann K, Schäfer R, Schulz WA, Santourlidis S, Anastasiadis A, Ackermann R, Visakorpi T, Müller W, Royer-Pokora B. Leube B, et al. Among authors: drechsler m. Prostate. 2002 Feb 15;50(3):135-44. doi: 10.1002/pros.10038. Prostate. 2002. PMID: 11813205

8

Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH.

Leube B, Majewski F, Drechsler M, Royer-Pokora B. Leube B, et al. Among authors: drechsler m. Clin Dysmorphol. 2003 Oct;12(4):261-5. doi: 10.1097/00019605-200310000-00010. Clin Dysmorphol. 2003. PMID: 14564215

9

A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy.

Schumacher V, Thumfart J, Drechsler M, Essayie M, Royer-Pokora B, Querfeld U, Müller D. Schumacher V, et al. Among authors: drechsler m. Nephrol Dial Transplant. 2006 Feb;21(2):518-21. doi: 10.1093/ndt/gfi285. Epub 2005 Nov 22. Nephrol Dial Transplant. 2006. PMID: 16303781 No abstract available.

10

Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH.

Evers C, Beier M, Poelitz A, Hildebrandt B, Servan K, Drechsler M, Germing U, Royer HD, Royer-Pokora B. Evers C, et al. Among authors: drechsler m. Genes Chromosomes Cancer. 2007 Dec;46(12):1119-28. doi: 10.1002/gcc.20498. Genes Chromosomes Cancer. 2007. PMID: 17823930

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