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1015 related items for PubMed ID: 16583938

  • 1. [Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].
    Sabol Z, Kipke-Sabol L.
    Lijec Vjesn; 2005; 127(11-12):303-11. PubMed ID: 16583938
    [Abstract] [Full Text] [Related]

  • 2. [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
    [Abstract] [Full Text] [Related]

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

  • 4. [Developmental manifestation in children with neurofibromatosis type 1].
    Cohen R, Shuper A.
    Harefuah; 2010 Jan 08; 149(1):49-52, 61. PubMed ID: 20422842
    [Abstract] [Full Text] [Related]

  • 5. [Managing children with neurofibromatosis type 1: what should we look for?].
    Martins CL, Monteiro JP, Farias A, Fernandes R, Fonseca MJ.
    Acta Med Port; 2007 Jan 08; 20(5):393-400. PubMed ID: 18282435
    [Abstract] [Full Text] [Related]

  • 6. 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 08; 58(3):493-7. PubMed ID: 18280349
    [Abstract] [Full Text] [Related]

  • 7. Genetic and clinical considerations in six cases with neurofibromatosis type 1.
    Buteică E, Stoicescu I, Burada F, Stănoiu B.
    Rom J Morphol Embryol; 2007 Mar 08; 48(3):243-8. PubMed ID: 17914490
    [Abstract] [Full Text] [Related]

  • 8. [Syndromes 18. Von Recklinghausen's disease].
    Baart JA, van Hagen JM.
    Ned Tijdschr Tandheelkd; 2000 Feb 08; 107(2):57-9. PubMed ID: 11385791
    [Abstract] [Full Text] [Related]

  • 9. [Neurofibromatosis type 1 or Von Recklinghausen's disease].
    Pinson S, Wolkenstein P.
    Rev Med Interne; 2005 Mar 08; 26(3):196-215. PubMed ID: 15777582
    [Abstract] [Full Text] [Related]

  • 10. 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 08; 46(7):425-30. PubMed ID: 19366998
    [Abstract] [Full Text] [Related]

  • 11. [Neurofibromatosis type 1 - description of clinical features and molecular mechanism of the disease].
    Bikowska-Opalach B, Jackowska T.
    Med Wieku Rozwoj; 2013 Jul 08; 17(4):334-40. PubMed ID: 24519776
    [Abstract] [Full Text] [Related]

  • 12. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
    Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.
    JAMA; 2009 Nov 18; 302(19):2111-8. PubMed ID: 19920235
    [Abstract] [Full Text] [Related]

  • 13. [von Recklinghausen's disease and its pathogenesis].
    Sakai A, Suzuki K.
    Nihon Rinsho; 1995 Nov 18; 53(11):2688-90. PubMed ID: 8538027
    [Abstract] [Full Text] [Related]

  • 14. 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 Nov 18; 45(3):192-7. PubMed ID: 14696795
    [Abstract] [Full Text] [Related]

  • 15. Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1.
    Rasmussen SA, Overman J, Thomson SA, Colman SD, Abernathy CR, Trimpert RE, Moose R, Virdi G, Roux K, Bauer M, Rojiani AM, Maria BL, Muir D, Wallace MR.
    Genes Chromosomes Cancer; 2000 Aug 18; 28(4):425-31. PubMed ID: 10862051
    [Abstract] [Full Text] [Related]

  • 16. 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 Aug 18; 9(6):548-54. PubMed ID: 9195229
    [Abstract] [Full Text] [Related]

  • 17. Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.
    Faravelli F, Upadhyaya M, Osborn M, Huson SM, Hayward R, Winter R.
    J Med Genet; 1999 Dec 18; 36(12):893-6. PubMed ID: 10593996
    [Abstract] [Full Text] [Related]

  • 18. Neurofibromatosis: novel and recurrent mutations in Turkish patients.
    Terzi YK, Oguzkan S, Anlar B, Aysun S, Ayter S.
    Pediatr Neurol; 2007 Dec 18; 37(6):421-5. PubMed ID: 18021924
    [Abstract] [Full Text] [Related]

  • 19. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
    Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF.
    Hum Mutat; 2002 Mar 18; 19(3):309. PubMed ID: 11857752
    [Abstract] [Full Text] [Related]

  • 20. [Genetics of type 1 neurofibromatosis].
    Garavelli L, Donadio A, Sigorini M, Grassi L, Banchini G.
    Acta Biomed Ateneo Parmense; 2000 Mar 18; 71(3-4):89-95. PubMed ID: 11424621
    [Abstract] [Full Text] [Related]


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