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Journal Abstract Search

138 related items for PubMed ID: 8931710

  • 1. Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.
    Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA.
    Hum Genet; 1996 Dec; 98(6):735-7. PubMed ID: 8931710
    [Abstract] [Full Text] [Related]

  • 2. Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.
    Verrips A, Steenbergen-Spanjers GC, Luyten JA, Wevers RA, Wokke JH, Gabreëls FJ, Wolthers BG, van den Heuvel LP.
    Hum Genet; 1997 Aug; 100(2):284-6. PubMed ID: 9254865
    [Abstract] [Full Text] [Related]

  • 3. 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; 37(7):1459-67. PubMed ID: 8827518
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 15; 38(11):2322-34. PubMed ID: 9392430
    [Abstract] [Full Text] [Related]

  • 7. Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients.
    Chen W, Kubota S, Teramoto T, Nishimura Y, Yonemoto K, Seyama Y.
    Biochemistry; 1998 Mar 31; 37(13):4420-8. PubMed ID: 9521761
    [Abstract] [Full Text] [Related]

  • 8. 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 Mar 31; 113(2):110-3. PubMed ID: 10741487
    [Abstract] [Full Text] [Related]

  • 9. 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 31; 51(3):865-7. PubMed ID: 9748042
    [Abstract] [Full Text] [Related]

  • 10. Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family.
    Segev H, Reshef A, Clavey V, Delbart C, Routier G, Leitersdorf E.
    Hum Genet; 1995 Feb 31; 95(2):238-40. PubMed ID: 7860076
    [Abstract] [Full Text] [Related]

  • 11. 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 31; 67(2):195-8. PubMed ID: 10406988
    [Abstract] [Full Text] [Related]

  • 12. Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX).
    Chen W, Kubota S, Seyama Y.
    J Lipid Res; 1998 Mar 31; 39(3):509-17. PubMed ID: 9548584
    [Abstract] [Full Text] [Related]

  • 13. Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.
    Chen W, Kubota S, Kim KS, Cheng J, Kuriyama M, Eggertsen G, Björkhem I, Seyama Y.
    J Lipid Res; 1997 May 31; 38(5):870-9. PubMed ID: 9186905
    [Abstract] [Full Text] [Related]

  • 14. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
    Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP.
    Brain; 2000 May 31; 123 ( Pt 5)():908-19. PubMed ID: 10775536
    [Abstract] [Full Text] [Related]

  • 15. Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).
    Kim KS, Kubota S, Kuriyama M, Fujiyama J, Björkhem I, Eggertsen G, Seyama Y.
    J Lipid Res; 1994 Jun 31; 35(6):1031-9. PubMed ID: 7915755
    [Abstract] [Full Text] [Related]

  • 16. 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 31; 61(1):77-8. PubMed ID: 11903362
    [No Abstract] [Full Text] [Related]

  • 17. 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 31; 37(3):631-9. PubMed ID: 8728324
    [Abstract] [Full Text] [Related]

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  • 19. Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
    Dotti MT, Federico A, Garuti R, Calandra S.
    Mov Disord; 2000 Sep 31; 15(5):1017-9. PubMed ID: 11009219
    [No Abstract] [Full Text] [Related]

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