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Journal Abstract Search

131 related items for PubMed ID: 11903362

  • 1. A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.
    Toba H, Fukuyama R, Sasaki M, Shiga K, Ishibashi S, Fushiki S.
    Clin Genet; 2002 Jan; 61(1):77-8. PubMed ID: 11903362
    [No Abstract] [Full Text] [Related]

  • 2. A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family.
    Okuyama E, Tomita S, Takeuchi H, Ichikawa Y.
    J Lipid Res; 1996 Mar; 37(3):631-9. PubMed ID: 8728324
    [Abstract] [Full Text] [Related]

  • 3. Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
    Dotti MT, Federico A, Garuti R, Calandra S.
    Mov Disord; 2000 Sep; 15(5):1017-9. PubMed ID: 11009219
    [No Abstract] [Full Text] [Related]

  • 4. Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis.
    Chen W, Kubota S, Teramoto T, Ishida S, Ohsawa N, Katayama T, Takeda T, Kuroda K, Yahara O, Kusuhara T, Neshige R, Seyama Y.
    Neurology; 1998 Sep; 51(3):865-7. PubMed ID: 9748042
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  • 5. Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.
    Sperhake JP, Matschke J, Orth U, Gal A, Püschel K.
    Int J Legal Med; 2000 Sep; 113(2):110-3. PubMed ID: 10741487
    [Abstract] [Full Text] [Related]

  • 6. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.
    Lee MH, Hazard S, Carpten JD, Yi S, Cohen J, Gerhardt GT, Salen G, Patel SB.
    J Lipid Res; 2001 Feb; 42(2):159-69. PubMed ID: 11181744
    [Abstract] [Full Text] [Related]

  • 7. Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.
    Garuti R, Croce MA, Tiozzo R, Dotti MT, Federico A, Bertolini S, Calandra S.
    J Lipid Res; 1997 Nov; 38(11):2322-34. PubMed ID: 9392430
    [Abstract] [Full Text] [Related]

  • 8. A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis.
    Ahmed MS, Afsar S, Hentati A, Ahmad A, Pasha J, Juneja T, Hung WY, Ahmad A, Choudhri A, Saya S, Siddique T.
    Neurology; 1997 Jan; 48(1):258-60. PubMed ID: 9008528
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  • 11. Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.
    Shiga K, Fukuyama R, Kimura S, Nakajima K, Fushiki S.
    J Neurol Neurosurg Psychiatry; 1999 Nov; 67(5):675-7. PubMed ID: 10519880
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  • 13. Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.
    Garuti R, Lelli N, Barozzini M, Dotti MT, Federico A, Bertolini S, Calandra S.
    J Lipid Res; 1996 Mar; 37(3):662-72. PubMed ID: 8728327
    [Abstract] [Full Text] [Related]

  • 14. Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene.
    Chen W, Kubota S, Nishimura Y, Nozaki S, Yamashita S, Nakagawa T, Kameda-Takemura K, Menju M, Matsuzawa Y, Björkhem I, Eggertsen G, Seyama Y.
    Biochim Biophys Acta; 1996 Nov 15; 1317(2):119-26. PubMed ID: 8950197
    [Abstract] [Full Text] [Related]

  • 15. Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.
    Wakamatsu N, Hayashi M, Kawai H, Kondo H, Gotoda Y, Nishida Y, Kondo R, Tsuji S, Matsumoto T.
    J Neurol Neurosurg Psychiatry; 1999 Aug 15; 67(2):195-8. PubMed ID: 10406988
    [Abstract] [Full Text] [Related]

  • 16. Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.
    Garuti R, Lelli N, Barozzini M, Tiozzo R, Dotti MT, Federico A, Ottomano AM, Croce A, Bertolini S, Calandra S.
    J Lipid Res; 1996 Jul 15; 37(7):1459-67. PubMed ID: 8827518
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  • 17. Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene.
    Mak CM, Lam KS, Tan KC, Ma OC, Tam S.
    Mol Genet Metab; 2004 Feb 15; 81(2):144-6. PubMed ID: 14741198
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  • 19. Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp).
    Nagai Y, Hirano M, Mori T, Takakura Y, Tamai S, Ueno S.
    Neurology; 1996 Feb 15; 46(2):571-4. PubMed ID: 8614539
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