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Journal Abstract Search

170 related items for PubMed ID: 10451518

  • 1. Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation.
    Ars E, Kruyer H, Gaona A, Serra E, Lázaro C, Estivill X.
    Prenat Diagn; 1999 Aug; 19(8):739-42. PubMed ID: 10451518
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  • 2. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.
    Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S.
    Genet Couns; 2009 Aug; 20(2):195-202. PubMed ID: 19650418
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  • 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 Aug; 15(6):541-55. PubMed ID: 10862084
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  • 4. 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.
    Am J Med Genet; 1999 Mar 05; 83(1):6-12. PubMed ID: 10076878
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  • 6. 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 05; 28(6):599-612. PubMed ID: 17311297
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  • 11. Molecular analysis of neurofibromatosis type 1 in Turkish families using polymorphic markers.
    Oğuzkan S, Cinbiş M, Ayter S, Anlar B, Aysun S.
    Turk J Pediatr; 2003 Jun 05; 45(3):192-7. PubMed ID: 14696795
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  • 12. Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.
    Serra E, Pros E, García C, López E, Gili ML, Gómez C, Ravella A, Capellá G, Blanco I, Lázaro C.
    Genes Chromosomes Cancer; 2007 Sep 05; 46(9):820-7. PubMed ID: 17563086
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  • 14. 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 05; 30(3):454-62. PubMed ID: 19241459
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  • 16. 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. PubMed ID: 11292340
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  • 17. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 13; 56(3):105-52. PubMed ID: 19728970
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  • 18. Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool.
    Elyakim S, Lerer I, Zlotogora J, Sagi M, Gelman-Kohan Z, Merin S, Abeliovich D.
    Am J Med Genet; 1994 Dec 01; 53(4):325-34. PubMed ID: 7864041
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  • 19. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.
    Lázaro C, Ravella A, Gaona A, Volpini V, Estivill X.
    N Engl J Med; 1994 Nov 24; 331(21):1403-7. PubMed ID: 7969279
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  • 20. Functional analysis of splicing mutations in exon 7 of NF1 gene.
    Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B.
    BMC Med Genet; 2007 Feb 12; 8():4. PubMed ID: 17295913
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