Böddrich A - Search Results

1

New evidence for a mutation hotspot in exon 37 of the NF1 gene.

Böddrich A, Robinson PN, Schülke M, Buske A, Tinschert S, Nürnberg P. Böddrich A, et al. Hum Mutat. 1997;9(4):374-7. doi: 10.1002/(SICI)1098-1004(1997)9:4<374::AID-HUMU15>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9101303 No abstract available.

2

Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.

Robinson PN, Böddrich A, Peters H, Tinschert S, Buske A, Kaufmann D, Nürnberg P. Robinson PN, et al. Among authors: boddrich a. Hum Genet. 1995 Jul;96(1):95-8. doi: 10.1007/BF00214193. Hum Genet. 1995. PMID: 7607663

3

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.

Horn D, Robinson PN, Böddrich A, Buske A, Tinschert S, Nürnberg P. Horn D, et al. Among authors: boddrich a. Electrophoresis. 1996 Oct;17(10):1559-63. doi: 10.1002/elps.1150171011. Electrophoresis. 1996. PMID: 8957181

4

Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene.

Böddrich A, Griesser J, Horn D, Kaufmann D, Krone W, Nürnberg P. Böddrich A, et al. Biochem Biophys Res Commun. 1995 Sep 25;214(3):895-904. doi: 10.1006/bbrc.1995.2371. Biochem Biophys Res Commun. 1995. PMID: 7575561

5

A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.

Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S. Albrecht AN, et al. Among authors: boddrich a. Hum Mol Genet. 2004 Oct 15;13(20):2351-9. doi: 10.1093/hmg/ddh277. Epub 2004 Aug 27. Hum Mol Genet. 2004. PMID: 15333588

6

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene.

Lorenz B, Francis F, Gempel K, Böddrich A, Josten M, Schmahl W, Schmidt J, Lehrach H, Meitinger T, Strom TM. Lorenz B, et al. Among authors: boddrich a. Hum Mol Genet. 1998 Mar;7(3):541-7. doi: 10.1093/hmg/7.3.541. Hum Mol Genet. 1998. PMID: 9467015

7

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

Francis F, Strom TM, Hennig S, Böddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H. Francis F, et al. Among authors: boddrich a. Genome Res. 1997 Jun;7(6):573-85. doi: 10.1101/gr.7.6.573. Genome Res. 1997. PMID: 9199930 Free article. No abstract available.

8

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia.

Strom TM, Francis F, Lorenz B, Böddrich A, Econs MJ, Lehrach H, Meitinger T. Strom TM, et al. Among authors: boddrich a. Hum Mol Genet. 1997 Feb;6(2):165-71. doi: 10.1093/hmg/6.2.165. Hum Mol Genet. 1997. PMID: 9063736

9

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.

Albrecht AN, Schwabe GC, Stricker S, Böddrich A, Wanker EE, Mundlos S. Albrecht AN, et al. Among authors: boddrich a. Mech Dev. 2002 Mar;112(1-2):53-67. doi: 10.1016/s0925-4773(01)00639-6. Mech Dev. 2002. PMID: 11850178 Free article.

10

Identification of VCP/p97, carboxyl terminus of Hsp70-interacting protein (CHIP), and amphiphysin II interaction partners using membrane-based human proteome arrays.

Grelle G, Kostka S, Otto A, Kersten B, Genser KF, Müller EC, Wälter S, Böddrich A, Stelzl U, Hänig C, Volkmer-Engert R, Landgraf C, Alberti S, Höhfeld J, Strödicke M, Wanker EE. Grelle G, et al. Among authors: boddrich a. Mol Cell Proteomics. 2006 Feb;5(2):234-44. doi: 10.1074/mcp.M500198-MCP200. Epub 2005 Nov 7. Mol Cell Proteomics. 2006. PMID: 16275660 Free article.

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