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Journal Abstract Search

277 related items for PubMed ID: 14696795

  • 1. 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; 45(3):192-7. PubMed ID: 14696795
    [Abstract] [Full Text] [Related]

  • 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; 20(2):195-202. PubMed ID: 19650418
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  • 3. 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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  • 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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  • 6. 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 Sep 08; 9(6):548-54. PubMed ID: 9195229
    [Abstract] [Full Text] [Related]

  • 7. Neurofibromatosis: novel and recurrent mutations in Turkish patients.
    Terzi YK, Oguzkan S, Anlar B, Aysun S, Ayter S.
    Pediatr Neurol; 2007 Dec 08; 37(6):421-5. PubMed ID: 18021924
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  • 9. Genetic and clinical considerations in six cases with neurofibromatosis type 1.
    Buteică E, Stoicescu I, Burada F, Stănoiu B.
    Rom J Morphol Embryol; 2007 Dec 08; 48(3):243-8. PubMed ID: 17914490
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  • 10. A de novo Alu insertion results in neurofibromatosis type 1.
    Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS.
    Nature; 1991 Oct 31; 353(6347):864-6. PubMed ID: 1719426
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  • 12. Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?
    Yang CC, Happle R, Chao SC, Yu-Yun Lee J, Chen W.
    J Am Acad Dermatol; 2008 Mar 31; 58(3):493-7. PubMed ID: 18280349
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  • 14. [Genetics of type 1 neurofibromatosis].
    Garavelli L, Donadio A, Sigorini M, Grassi L, Banchini G.
    Acta Biomed Ateneo Parmense; 2000 Mar 31; 71(3-4):89-95. PubMed ID: 11424621
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  • 15. [Lisch nodules. Markers for a non-invasive diagnosis in Recklinghausen neurofibromatosis].
    Crişan M, Talu S, Florea M, Coprean D, Cosgarea R, Crişan D.
    Oftalmologia; 2008 Mar 31; 52(4):56-61. PubMed ID: 19354164
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  • 16. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 31; 56(3):105-52. PubMed ID: 19728970
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  • 19. Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage.
    Charrow J, Listernick R, Ward K.
    Am J Med Genet; 1993 Mar 01; 45(5):606-8. PubMed ID: 8456833
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