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Journal Abstract Search

261 related items for PubMed ID: 12112660

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].
    Origone P, Bellini C, Sambarino D, Banelli B, Morcaldi G, La Rosa C, Stanzial F, Castellan C, Coviello DA, Garrè C, Bonioli E.
    Hum Mutat; 2003 Aug; 22(2):179-80. PubMed ID: 12872266
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  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. NF1 mutation analysis using a combined heteroduplex/SSCP approach.
    Abernathy CR, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR.
    Hum Mutat; 1997 Jun; 9(6):548-54. PubMed ID: 9195229
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.
    Peters H, Lüder A, Harder A, Schuelke M, Tinschert S.
    Hum Mutat; 1999 Jul; 13(3):258. PubMed ID: 10090487
    [Abstract] [Full Text] [Related]

  • 7. A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.
    Park KC, Choi HO, Park KH, Kim KH, Eun HC.
    J Hum Genet; 2000 Jul; 45(2):84-5. PubMed ID: 10721668
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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 Dec; 20(2):195-202. PubMed ID: 19650418
    [Abstract] [Full Text] [Related]

  • 10. 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 Dec; 15(6):541-55. PubMed ID: 10862084
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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; 30(3):454-62. PubMed ID: 19241459
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  • 15. Neurofibromatosis: novel and recurrent mutations in Turkish patients.
    Terzi YK, Oguzkan S, Anlar B, Aysun S, Ayter S.
    Pediatr Neurol; 2007 Dec; 37(6):421-5. PubMed ID: 18021924
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  • 17. Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease.
    Kimura N, Watanabe T, Fukase M, Wakita A, Noshiro T, Kimura I.
    Mod Pathol; 2002 Mar; 15(3):183-8. PubMed ID: 11904334
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  • 18. Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.
    Upadhyaya M, Osborn M, Maynard J, Harper P.
    Am J Med Genet; 1996 Jul 26; 67(4):421-3. PubMed ID: 8837715
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  • 19. Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.
    Nyström AM, Ekvall S, Allanson J, Edeby C, Elinder M, Holmström G, Bondeson ML, Annerén G.
    Clin Genet; 2009 Dec 26; 76(6):524-34. PubMed ID: 19845691
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  • 20. Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients.
    Kinoshita K, Hirota S, Isozaki K, Ohashi A, Nishida T, Kitamura Y, Shinomura Y, Matsuzawa Y.
    J Pathol; 2004 Jan 26; 202(1):80-5. PubMed ID: 14694524
    [Abstract] [Full Text] [Related]

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