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Journal Abstract Search

320 related items for PubMed ID: 8320697

  • 1.
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  • 2. The Genoa experience of prenatal diagnosis in NF1.
    Origone P, Bonioli E, Panucci E, Costabel S, Ajmar F, Coviello DA.
    Prenat Diagn; 2000 Sep; 20(9):719-24. PubMed ID: 11015700
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  • 4. [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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  • 5. 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
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  • 6. 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 08; 19(8):739-42. PubMed ID: 10451518
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  • 7. Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
    N Abdel-Aziz N, Y El-Kamah G, A Khairat R, R Mohamed H, Z Gad Y, El-Ghor AM, Amr KS.
    Mol Genet Genomic Med; 2021 Dec 08; 9(12):e1631. PubMed ID: 34080803
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  • 8. Diagnosis of neurofibromatosis type 1 using RFLPs tightly linked to gene.
    Vivarelli R, Bartalani G, Berardi A, Calistri L, Balestri P, Fois A.
    Childs Nerv Syst; 1993 Jun 08; 9(3):147-9. PubMed ID: 8104099
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  • 9. Hereditary spinal neurofibromatosis: a rare form of NF1?
    Poyhonen M, Leisti EL, Kytölä S, Leisti J.
    J Med Genet; 1997 Mar 08; 34(3):184-7. PubMed ID: 9132486
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  • 10. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.
    Colman SD, Williams CA, Wallace MR.
    Nat Genet; 1995 Sep 08; 11(1):90-2. PubMed ID: 7550323
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  • 11. A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.
    Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, Muglia M, Ungaro C, Di Palma G, Citrigno L, Sproviero W, Gambardella A, Quattrone A.
    Childs Nerv Syst; 2011 Apr 08; 27(4):635-8. PubMed ID: 20927530
    [Abstract] [Full Text] [Related]

  • 12. Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.
    Rodenhiser DI, Coulter-Mackie MB, Singh SM.
    Hum Mol Genet; 1993 Apr 08; 2(4):439-44. PubMed ID: 8504305
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  • 13. An EcoRI RFLP in the 5' region of the human NF1 gene.
    Reyniers E, De Boulle K, Marchuk DA, Andersen LB, Collins FS, Willems PJ.
    Hum Genet; 1993 Dec 08; 92(6):631. PubMed ID: 7903272
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  • 14.
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  • 15. Loss of NF1 alleles in phaeochromocytomas from patients with type I neurofibromatosis.
    Xu W, Mulligan LM, Ponder MA, Liu L, Smith BA, Mathew CG, Ponder BA.
    Genes Chromosomes Cancer; 1992 Jun 08; 4(4):337-42. PubMed ID: 1377942
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.
    Lázaro C, Gaona A, Ravella A, Volpini V, Casals T, Fuentes JJ, Estivill X.
    Hum Mol Genet; 1993 Jun 18; 2(6):725-30. PubMed ID: 8353492
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  • 18. Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.
    Steinmann K, Kluwe L, Friedrich RE, Mautner VF, Cooper DN, Kehrer-Sawatzki H.
    J Invest Dermatol; 2009 Mar 18; 129(3):615-21. PubMed ID: 18800150
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  • 20. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.
    Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D.
    Am J Med Genet; 1996 Dec 18; 66(3):347-55. PubMed ID: 8985499
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