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Journal Abstract Search

360 related items for PubMed ID: 15146469

  • 1. 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. PubMed ID: 15146469
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  • 2. 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. PubMed ID: 12552569
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  • 3. Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.
    Origone P, De Luca A, Bellini C, Buccino A, Mingarelli R, Costabel S, La Rosa C, Garrè C, Coviello DA, Ajmar F, Dallapiccola B, Bonioli E.
    Hum Mutat; 2002 Jul; 20(1):74-5. PubMed ID: 12112660
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  • 4. 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 Jul; 15(6):541-55. PubMed ID: 10862084
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  • 5. Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.
    Han SS, Cooper DN, Upadhyaya MN.
    Hum Genet; 2001 Nov; 109(5):487-97. PubMed ID: 11735023
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  • 9. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.
    Wiest V, Eisenbarth I, Schmegner C, Krone W, Assum G.
    Hum Mutat; 2003 Dec; 22(6):423-7. PubMed ID: 14635100
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  • 12. 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. PubMed ID: 19241459
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  • 13. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
    Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN.
    J Med Genet; 2009 Jul; 46(7):425-30. PubMed ID: 19366998
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  • 17. 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. PubMed ID: 10874316
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  • 18. The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
    Jeong SY, Park SJ, Kim HJ.
    J Korean Med Sci; 2006 Feb; 21(1):107-12. PubMed ID: 16479075
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  • 19. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).
    Upadhyaya M, Kluwe L, Spurlock G, Monem B, Majounie E, Mantripragada K, Ruggieri M, Chuzhanova N, Evans DG, Ferner R, Thomas N, Guha A, Mautner V.
    Hum Mutat; 2008 Jan; 29(1):74-82. PubMed ID: 17960768
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  • 20. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
    Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D, members of the NF France Network.
    Hum Mutat; 2010 Jun; 31(6):E1506-18. PubMed ID: 20513137
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