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Journal Abstract Search

334 related items for PubMed ID: 18021924

  • 1. 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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  • 2. 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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  • 5. [From gene to disease; neurofibromatosis type 1].
    de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF.
    Ned Tijdschr Geneeskd; 2001 Sep 08; 145(36):1736-8. PubMed ID: 11572174
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  • 8. [Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].
    Sabol Z, Kipke-Sabol L.
    Lijec Vjesn; 2005 Sep 08; 127(11-12):303-11. PubMed ID: 16583938
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  • 13. 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 08; 21(2):171-2. PubMed ID: 12552569
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  • 14. 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 08; 20(1):74-5. PubMed ID: 12112660
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  • 16. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
    Ko JM, Sohn YB, Jeong SY, Kim HJ, Messiaen LM.
    Pediatr Neurol; 2013 Jun 08; 48(6):447-53. PubMed ID: 23668869
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  • 17. 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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  • 18. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
    Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E.
    Nat Genet; 2007 Sep 26; 39(9):1120-6. PubMed ID: 17704776
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