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Items: 1 to 20 of 399

1.

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.

Am J Hum Genet. 2000 Mar;66(3):790-818.

2.

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

Upadhyaya M, Osborn MJ, Maynard J, Kim MR, Tamanoi F, Cooper DN.

Hum Genet. 1997 Jan;99(1):88-92.

PMID:
9003501
3.

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD.

Hum Mutat. 2000;15(6):541-55.

PMID:
10862084
4.

NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.

Girodon-Boulandet E, Pantel J, Cazeneuve C, Gijn MV, Vidaud D, Lemay S, Martin J, Zeller J, Revuz J, Goossens M, Amselem S, Wolkenstein P.

Hum Mutat. 2000 Sep;16(3):274-5.

PMID:
10980545
5.

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

Abernathy CR, Colman SD, Kousseff BG, Wallace MR.

Hum Mutat. 1994;3(4):347-52.

PMID:
8081387
6.

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.

Biochem Biophys Res Commun. 1995 Sep 25;214(3):895-904.

PMID:
7575561
7.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
8.

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

Klose A, Ahmadian MR, Schuelke M, Scheffzek K, Hoffmeyer S, Gewies A, Schmitz F, Kaufmann D, Peters H, Wittinghofer A, Nürnberg P.

Hum Mol Genet. 1998 Aug;7(8):1261-8.

PMID:
9668168
9.

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, Ciavarella A, Dottorini T, Porciello R, Giustini S, Calvieri S, Dallapiccola B.

Hum Mutat. 2004 Jun;23(6):629.

PMID:
15146469
10.

A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

Fang LJ, Simard MJ, Vidaud D, Assouline B, Lemieux B, Vidaud M, Chabot B, Thirion JP.

J Mol Biol. 2001 Apr 13;307(5):1261-70.

PMID:
11292340
12.

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.

Electrophoresis. 1996 Oct;17(10):1559-63.

PMID:
8957181
13.

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

Mattocks C, Baralle D, Tarpey P, ffrench-Constant C, Bobrow M, Whittaker J.

J Med Genet. 2004 Apr;41(4):e48. No abstract available.

15.

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S, Abernathy CR, Johnson JS, Williams CA, Driscoll DJ, Zori R, Stalker HJ, Rasmussen SA, Collins FS, Kousseff BG, Baumbach L, Wallace MR.

Hum Mutat. 1998;11(5):411.

PMID:
10336779
16.

Somatic mutations in the neurofibromatosis 1 gene in human tumors.

Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D, Ward K, Friedman E, Samowitz W, Robertson M, et al.

Cell. 1992 Apr 17;69(2):275-81.

PMID:
1568247
17.

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

Wimmer K, Roca X, Beiglböck H, Callens T, Etzler J, Rao AR, Krainer AR, Fonatsch C, Messiaen L.

Hum Mutat. 2007 Jun;28(6):599-612.

PMID:
17311297
18.

NF1 gene analysis based on DHPLC.

De Luca A, Buccino A, Gianni D, Mangino M, Giustini S, Richetta A, Divona L, Calvieri S, Mingarelli R, Dallapiccola B.

Hum Mutat. 2003 Feb;21(2):171-2.

PMID:
12552569
19.

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

Upadhyaya M, Han S, Consoli C, Majounie E, Horan M, Thomas NS, Potts C, Griffiths S, Ruggieri M, von Deimling A, Cooper DN.

Hum Mutat. 2004 Feb;23(2):134-46.

PMID:
14722917
20.

Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.

Wimmer K, Eckart M, Stadler PF, Rehder H, Fonatsch C.

Hum Mutat. 2000 Jul;16(1):90-1.

PMID:
10874316

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