Fahsold R - Search Results

1

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A. Hüffmeier U, et al. Among authors: fahsold r. Am J Med Genet A. 2006 Dec 15;140(24):2749-56. doi: 10.1002/ajmg.a.31547. Am J Med Genet A. 2006. PMID: 17103458

2

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A. Thiel C, et al. Among authors: fahsold r. Am J Med Genet A. 2009 Jun;149A(6):1263-7. doi: 10.1002/ajmg.a.32837. Am J Med Genet A. 2009. PMID: 19449407

3

Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene.

Kaufmann D, Müller R, Bartelt B, Wolf M, Kunzi-Rapp K, Hanemann CO, Fahsold R, Hein C, Vogel W, Assum G. Kaufmann D, et al. Among authors: fahsold r. Am J Hum Genet. 2001 Dec;69(6):1395-400. doi: 10.1086/324648. Epub 2001 Oct 18. Am J Hum Genet. 2001. PMID: 11704931 Free PMC article.

4

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P. Fahsold R, et al. Am J Hum Genet. 2000 Mar;66(3):790-818. doi: 10.1086/302809. Am J Hum Genet. 2000. PMID: 10712197 Free PMC article.

5

A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online.

Peters H, Hess D, Fahsold R, Schülke M. Peters H, et al. Among authors: fahsold r. Hum Mutat. 1999;13(4):337. doi: 10.1002/(sici)1098-1004(1999)13:4<337::aid-humu12>3.0.co;2-f. Hum Mutat. 1999. PMID: 10220149

6

Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

Hoffmeyer S, Nürnberg P, Ritter H, Fahsold R, Leistner W, Kaufmann D, Krone W. Hoffmeyer S, et al. Among authors: fahsold r. Am J Hum Genet. 1998 Feb;62(2):269-77. doi: 10.1086/301715. Am J Hum Genet. 1998. PMID: 9463322 Free PMC article.

7

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF. Kluwe L, et al. Among authors: fahsold r. Hum Mutat. 2002 Mar;19(3):309. doi: 10.1002/humu.9018. Hum Mutat. 2002. PMID: 11857752

8

Gene symbol: NF2. Disease: neurofibromatosis 2.

Ehlers C, Fahsold R. Ehlers C, et al. Among authors: fahsold r. Hum Genet. 1998 Feb;102(2):252. doi: 10.1007/s004390050687. Hum Genet. 1998. PMID: 9521599 No abstract available.

9

Limited contribution of interchromosomal gene conversion to NF1 gene mutation.

Luijten M, Fahsold R, Mischung C, Westerveld A, Nürnberg P, Hulsebos TJ. Luijten M, et al. Among authors: fahsold r. J Med Genet. 2001 Jul;38(7):481-5. doi: 10.1136/jmg.38.7.481. J Med Genet. 2001. PMID: 11476066 Free PMC article. No abstract available.

10

Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

Toliat MR, Erdogan F, Gewies A, Fahsold R, Buske A, Tinschert S, Nürnberg P. Toliat MR, et al. Among authors: fahsold r. Electrophoresis. 2000 Feb;21(3):541-4. doi: 10.1002/(SICI)1522-2683(20000201)21:3<541::AID-ELPS541>3.0.CO;2-L. Electrophoresis. 2000. PMID: 10726756

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