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Items: 1 to 20 of 433

1.

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.

Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellá G, Blanco I, Serra E, Lázaro C.

Hum Mutat. 2009 Mar;30(3):454-62. doi: 10.1002/humu.20933.

PMID:
19241459
2.

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.

Pros E, Larriba S, López E, Ravella A, Gili ML, Kruyer H, Valls J, Serra E, Lázaro C.

Hum Mutat. 2006 Nov;27(11):1104-14.

PMID:
16937374
3.

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
4.

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.

Rincón A, Aguado C, Desviat LR, Sánchez-Alcudia R, Ugarte M, Pérez B.

Am J Hum Genet. 2007 Dec;81(6):1262-70.

5.

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
6.

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

Serra E, Ars E, Ravella A, Sánchez A, Puig S, Rosenbaum T, Estivill X, Lázaro C.

Hum Genet. 2001 May;108(5):416-29.

PMID:
11409870
7.

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
8.

RT-PCR splicing analysis of the NF1 open reading frame.

Thomson SA, Wallace MR.

Hum Genet. 2002 May;110(5):495-502. Epub 2002 Apr 4.

PMID:
12073021
9.

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.

Brinckmann A, Mischung C, Bässmann I, Kühnisch J, Schuelke M, Tinschert S, Nürnberg P.

Electrophoresis. 2007 Dec;28(23):4295-301.

PMID:
18041031
10.

MicroRNA-10b regulates tumorigenesis in neurofibromatosis type 1.

Chai G, Liu N, Ma J, Li H, Oblinger JL, Prahalad AK, Gong M, Chang LS, Wallace M, Muir D, Guha A, Phipps RJ, Hock JM, Yu X.

Cancer Sci. 2010 Sep;101(9):1997-2004. doi: 10.1111/j.1349-7006.2010.01616.x.

13.

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
14.

The Ras inhibitor farnesylthiosalicylic acid as a potential therapy for neurofibromatosis type 1.

Barkan B, Starinsky S, Friedman E, Stein R, Kloog Y.

Clin Cancer Res. 2006 Sep 15;12(18):5533-42.

PMID:
17000690
15.
16.

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA.

Ars E, Serra E, de la Luna S, Estivill X, Lázaro C.

Nucleic Acids Res. 2000 Mar 15;28(6):1307-12.

17.

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.

18.

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
19.

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.

Castellanos E, Rosas I, Solanes A, Bielsa I, Lázaro C, Carrato C, Hostalot C, Prades P, Roca-Ribas F, Blanco I, Serra E; NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC.

Eur J Hum Genet. 2013 Jul;21(7):769-73. doi: 10.1038/ejhg.2012.261. Epub 2012 Nov 28. Erratum in: Eur J Hum Genet. 2014 Jan;22(1):153.

20.

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.

Am J Hum Genet. 1998 Feb;62(2):269-77.

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