Royer-Pokora B - Search Results

1

Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes.

Chang-Claude J, Dong J, Schmidt S, Shayeghi M, Komitowski D, Becher H, Stratton MR, Royer-Pokora B. Chang-Claude J, et al. J Med Genet. 1998 Feb;35(2):116-21. doi: 10.1136/jmg.35.2.116. J Med Genet. 1998. PMID: 9507390 Free PMC article.

2

A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

Dong J, Chang-Claude J, Wu Y, Schumacher V, Debatin I, Tonin P, Royer-Pokora B. Dong J, et al. Hum Genet. 1998 Aug;103(2):154-61. doi: 10.1007/s004390050799. Hum Genet. 1998. PMID: 9760198

3

Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2.

Rapley EA, Barfoot R, Bonaïti-Pellié C, Chompret A, Foulkes W, Perusinghe N, Reeve A, Royer-Pokora B, Schumacher V, Shelling A, Skeen J, de Tourreil S, Weirich A, Pritchard-Jones K, Stratton MR, Rahman N. Rapley EA, et al. Br J Cancer. 2000 Jul;83(2):177-83. doi: 10.1054/bjoc.2000.1283. Br J Cancer. 2000. PMID: 10901367 Free PMC article.

4

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium. Morak M, et al. J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28. J Med Genet. 2011. PMID: 21712435 Free article.

5

Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

Schumacher V, Schneider S, Figge A, Wildhardt G, Harms D, Schmidt D, Weirich A, Ludwig R, Royer-Pokora B. Schumacher V, et al. Proc Natl Acad Sci U S A. 1997 Apr 15;94(8):3972-7. doi: 10.1073/pnas.94.8.3972. Proc Natl Acad Sci U S A. 1997. PMID: 9108089 Free PMC article.

6

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

7

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

8

Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations.

Schneider S, Wildhardt G, Ludwig R, Royer-Pokora B. Schneider S, et al. Hum Genet. 1993 Jul;91(6):599-604. doi: 10.1007/BF00205087. Hum Genet. 1993. PMID: 8393425

9

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. 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

10

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

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