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Journal Abstract Search

951 related items for PubMed ID: 19650418

  • 1. 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
    [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. 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 Sep 08; 45(3):192-7. PubMed ID: 14696795
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. [Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].
    Sabol Z, Kipke-Sabol L.
    Lijec Vjesn; 2005 Jul 08; 127(11-12):303-11. PubMed ID: 16583938
    [Abstract] [Full Text] [Related]

  • 6. The Genoa experience of prenatal diagnosis in NF1.
    Origone P, Bonioli E, Panucci E, Costabel S, Ajmar F, Coviello DA.
    Prenat Diagn; 2000 Sep 08; 20(9):719-24. PubMed ID: 11015700
    [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
    [Abstract] [Full Text] [Related]

  • 8. 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 08; 23(6):629. PubMed ID: 15146469
    [Abstract] [Full Text] [Related]

  • 9. [Unusual clinical manifestations of type 1 neurofibromatosis].
    Komlósi K, Polgár N, Hadzsiev K, Ottóffy G, Illés T, Dóczi T, Melegh B.
    Orv Hetil; 2011 Dec 04; 152(49):1965-70. PubMed ID: 22106164
    [Abstract] [Full Text] [Related]

  • 10. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).
    Szudek J, Joe H, Friedman JM.
    Genet Epidemiol; 2002 Aug 04; 23(2):150-64. PubMed ID: 12214308
    [Abstract] [Full Text] [Related]

  • 11. 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 04; 9(6):548-54. PubMed ID: 9195229
    [Abstract] [Full Text] [Related]

  • 12. 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 04; 36(12):893-6. PubMed ID: 10593996
    [Abstract] [Full Text] [Related]

  • 13. 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 04; 20(1):74-5. PubMed ID: 12112660
    [Abstract] [Full Text] [Related]

  • 14. [Developmental manifestation in children with neurofibromatosis type 1].
    Cohen R, Shuper A.
    Harefuah; 2010 Jan 04; 149(1):49-52, 61. PubMed ID: 20422842
    [Abstract] [Full Text] [Related]

  • 15. Genetic and clinical considerations in six cases with neurofibromatosis type 1.
    Buteică E, Stoicescu I, Burada F, Stănoiu B.
    Rom J Morphol Embryol; 2007 Jan 04; 48(3):243-8. PubMed ID: 17914490
    [Abstract] [Full Text] [Related]

  • 16. [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 04; 20(5):393-400. PubMed ID: 18282435
    [Abstract] [Full Text] [Related]

  • 17. Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation.
    Ars E, Kruyer H, Gaona A, Serra E, Lázaro C, Estivill X.
    Prenat Diagn; 1999 Aug 04; 19(8):739-42. PubMed ID: 10451518
    [Abstract] [Full Text] [Related]

  • 18. 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]

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  • 20. 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 18; 76(6):524-34. PubMed ID: 19845691
    [Abstract] [Full Text] [Related]

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