Wildhardt G - Search Results

1

MODY 2 diabetes in a mature newborn due to a new mutation in the GCK-gene.

Fahr K, Böckmann A, Wildhardt G, Gessler P. Fahr K, et al. Among authors: wildhardt g. Klin Padiatr. 2012 Sep;224(5):316-7. doi: 10.1055/s-0032-1321728. Epub 2012 Sep 1. Klin Padiatr. 2012. PMID: 22941762 No abstract available.

2

[Present limitations of molecular biological diagnostics in Gillespie syndrome].

Kieslich M, Vanselow K, Wildhardt G, Gebhardt B, Weis R, Böhles H. Kieslich M, et al. Among authors: wildhardt g. Klin Padiatr. 2001 Mar-Apr;213(2):47-9. doi: 10.1055/s-2001-12875. Klin Padiatr. 2001. PMID: 11305191 German.

3

[Molecular genetic study of the PAX6 gene in aniridia patients].

Wolf M, Zabel B, Lorenz B, Blankenagel A, Ghorbani MB, Schwenn O, Wildhardt G. Wolf M, et al. Among authors: wildhardt g. Ophthalmologe. 1998 Dec;95(12):828-30. doi: 10.1007/s003470050361. Ophthalmologe. 1998. PMID: 10025146 German.

4

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: wildhardt g. 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

5

A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.

Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F. Forzano F, et al. Among authors: wildhardt g. Am J Med Genet A. 2007 Dec 1;143A(23):2815-20. doi: 10.1002/ajmg.a.32047. Am J Med Genet A. 2007. PMID: 17994563

6

Two different PAX3 gene mutations causing Waardenburg syndrome type I.

Wildhardt G, Winterpacht A, Hilbert K, Menger H, Zabel B. Wildhardt G, et al. Mol Cell Probes. 1996 Jun;10(3):229-31. doi: 10.1006/mcpr.1996.0032. Mol Cell Probes. 1996. PMID: 8799378

7

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. Among authors: wildhardt g. Hum Genet. 1993 Jul;91(6):599-604. doi: 10.1007/BF00205087. Hum Genet. 1993. PMID: 8393425

8

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. Among authors: wildhardt g. 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.

9

RNA polymerase chain reaction detects different levels of four alternatively spliced WT1 transcripts in Wilms' tumors.

Brenner B, Wildhardt G, Schneider S, Royer-Pokora B. Brenner B, et al. Among authors: wildhardt g. Oncogene. 1992 Jul;7(7):1431-3. Oncogene. 1992. PMID: 1320246

10

Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene.

Pohlenz J, Wildhardt G, Zabel B, Willgerodt H. Pohlenz J, et al. Among authors: wildhardt g. Thyroid. 1997 Feb;7(1):39-41. doi: 10.1089/thy.1997.7.39. Thyroid. 1997. PMID: 9086568

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