Buske A - Search Results

1

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. Schulz AL, et al. Among authors: buske a. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004.2007.00931.x. Epub 2007 Nov 27. Clin Genet. 2008. PMID: 18042262

2

Childhood overgrowth in patients with common NF1 microdeletions.

Spiegel M, Oexle K, Horn D, Windt E, Buske A, Albrecht B, Prott EC, Seemanová E, Seidel J, Rosenbaum T, Jenne D, Kehrer-Sawatzki H, Tinschert S. Spiegel M, et al. Among authors: buske a. Eur J Hum Genet. 2005 Jul;13(7):883-8. doi: 10.1038/sj.ejhg.5201419. Eur J Hum Genet. 2005. PMID: 15856072

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: buske a. Electrophoresis. 1996 Oct;17(10):1559-63. doi: 10.1002/elps.1150171011. Electrophoresis. 1996. PMID: 8957181

4

Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).

Buske A, Gewies A, Lehmann R, Rüther K, Algermissen B, Nürnberg P, Tinschert S. Buske A, et al. Am J Med Genet. 1999 Oct 8;86(4):328-30. doi: 10.1002/(sici)1096-8628(19991008)86:4<328::aid-ajmg6>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10494088

5

Two independent mutations in a family with neurofibromatosis type 1 (NF1).

Klose A, Peters H, Hoffmeyer S, Buske A, Lüder A, Hess D, Lehmann R, Nürnberg P, Tinschert S. Klose A, et al. Among authors: buske a. Am J Med Genet. 1999 Mar 5;83(1):6-12. Am J Med Genet. 1999. PMID: 10076878

6

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.

Tinschert S, Naumann I, Stegmann E, Buske A, Kaufmann D, Thiel G, Jenne DE. Tinschert S, et al. Among authors: buske a. Eur J Hum Genet. 2000 Jun;8(6):455-9. doi: 10.1038/sj.ejhg.5200493. Eur J Hum Genet. 2000. PMID: 10878667

7

Two novel mutations in exons 19a and 20 and a BsaBI [correction of BsaI] polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.

Klose A, Robinson N, Gewies A, Kluwe L, Kaufmann D, Buske A, Tinschert S, Peters H. Klose A, et al. Among authors: buske a. Hum Genet. 1998 Mar;102(3):367-71. doi: 10.1007/s004390050706. Hum Genet. 1998. PMID: 9544853

8

A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.

Jenne DE, Tinschert S, Stegmann E, Reimann H, Nürnberg P, Horn D, Naumann I, Buske A, Thiel G. Jenne DE, et al. Among authors: buske a. Genomics. 2000 May 15;66(1):93-7. doi: 10.1006/geno.2000.6179. Genomics. 2000. PMID: 10843809

9

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: buske a. Hum Genet. 1995 Jul;96(1):95-8. doi: 10.1007/BF00214193. Hum Genet. 1995. PMID: 7607663

10

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. Among authors: buske a. 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.

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