Royer-Pokora B - Search Results

1

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

Classen S, Goecke T, Drechsler M, Betz B, Nickel N, Beier M, Schaper J, Karenfort M, Royer-Pokora B. Classen S, et al. Am J Med Genet A. 2013 Jun;161A(6):1453-8. doi: 10.1002/ajmg.a.35904. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633430

2

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. Nat Genet. 1994 Feb;6(2):174-9. doi: 10.1038/ng0294-174. Nat Genet. 1994. PMID: 7512862

3

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. Cytogenet Cell Genet. 1993;63(3):144-6. doi: 10.1159/000133522. Cytogenet Cell Genet. 1993. PMID: 7683594

4

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. Oncogene. 1993 Nov;8(11):3123-32. Oncogene. 1993. PMID: 8414514

5

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

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. 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. Clin Dysmorphol. 2003 Oct;12(4):261-5. doi: 10.1097/00019605-200310000-00010. Clin Dysmorphol. 2003. PMID: 14564215

9

SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.

Leube B, Huber R, Goecke TO, Sandmann W, Royer-Pokora B. Leube B, et al. Clin Genet. 2004 Jan;65(1):61-3. doi: 10.1111/j..2004.00174.x. Clin Genet. 2004. PMID: 15032977 No abstract available.

10

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V. Royer-Pokora B, et al. Am J Med Genet A. 2004 Jun 15;127A(3):249-57. doi: 10.1002/ajmg.a.30015. Am J Med Genet A. 2004. PMID: 15150775

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