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Journal Abstract Search

951 related items for PubMed ID: 19650418

  • 21. Associations of clinical features in neurofibromatosis 1 (NF1).
    Szudek J, Birch P, Riccardi VM, Evans DG, Friedman JM.
    Genet Epidemiol; 2000 Dec; 19(4):429-39. PubMed ID: 11108651
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  • 22. Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.
    Serra E, Pros E, García C, López E, Gili ML, Gómez C, Ravella A, Capellá G, Blanco I, Lázaro C.
    Genes Chromosomes Cancer; 2007 Sep; 46(9):820-7. PubMed ID: 17563086
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  • 23. A clinical study of type 1 neurofibromatosis in north west England.
    McGaughran JM, Harris DI, Donnai D, Teare D, MacLeod R, Westerbeek R, Kingston H, Super M, Harris R, Evans DG.
    J Med Genet; 1999 Mar; 36(3):197-203. PubMed ID: 10204844
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  • 24. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.
    Wiest V, Eisenbarth I, Schmegner C, Krone W, Assum G.
    Hum Mutat; 2003 Dec; 22(6):423-7. PubMed ID: 14635100
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  • 25. 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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  • 28. Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?
    Van-Gils J, Harambat J, Jubert C, Vidaud D, Llanas B, Perel Y, Lacombe D, Goizet C.
    Eur J Med Genet; 2014 Dec 01; 57(11-12):639-42. PubMed ID: 25234363
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  • 29. Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
    Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M.
    Hum Genomics; 2012 Aug 13; 6(1):12. PubMed ID: 23244495
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  • 30. Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.
    Campos B, Balmaña J, Gardenyes J, Valenzuela I, Abad O, Fàbregas P, Volpini V, Díez O.
    Breast Cancer Res Treat; 2013 Jun 13; 139(2):597-602. PubMed ID: 23624750
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  • 31. Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.
    Colman SD, Williams CA, Wallace MR.
    Nat Genet; 1995 Sep 13; 11(1):90-2. PubMed ID: 7550323
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  • 34. Molecular genetic analyses in neurofibromatosis type 1 patients with tumors.
    Oguzkan S, Terzi YK, Cinbis M, Anlar B, Aysun S, Ayter S.
    Cancer Genet Cytogenet; 2006 Mar 13; 165(2):167-71. PubMed ID: 16527612
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  • 35. Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.
    Bacci C, Sestini R, Ammannati F, Bianchini E, Palladino T, Carella M, Melchionda S, Zelante L, Papi L.
    Clin Genet; 2010 Mar 13; 77(3):293-7. PubMed ID: 19863548
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  • 36. [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 13; 52(4):56-61. PubMed ID: 19354164
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  • 38. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
    Pros E, Larriba S, López E, Ravella A, Gili ML, Kruyer H, Valls J, Serra E, Lázaro C.
    Hum Mutat; 2006 Nov 13; 27(11):1104-14. PubMed ID: 16937374
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  • 40. Genotype analysis of the NF1 gene in the French Canadians from the Québec population.
    Fang L, Chalhoub N, Li W, Feingold J, Ortenberg J, Lemieux B, Thirion JP.
    Am J Med Genet; 2001 Dec 01; 104(3):189-98. PubMed ID: 11754043
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