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Journal Abstract Search

171 related items for PubMed ID: 9748042

  • 21. Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.
    Nozue T, Higashikata T, Inazu A, Kawashiri MA, Nohara A, Kobayashi J, Koizumi J, Yamagishi M, Mabuchi H.
    Intern Med; 2010; 49(12):1127-31. PubMed ID: 20558929
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 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; 123 ( Pt 5)():908-19. PubMed ID: 10775536
    [Abstract] [Full Text] [Related]

  • 24. A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis.
    Nakashima N, Sakai Y, Sakai H, Yanase T, Haji M, Umeda F, Koga S, Hoshita T, Nawata H.
    J Lipid Res; 1994 Apr; 35(4):663-8. PubMed ID: 8006521
    [Abstract] [Full Text] [Related]

  • 25. Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy.
    Watts GF, Mitchell WD, Bending JJ, Reshef A, Leitersdorf E.
    QJM; 1996 Jan; 89(1):55-63. PubMed ID: 8730343
    [Abstract] [Full Text] [Related]

  • 26. Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans.
    Björkhem I, Leitersdorf E.
    Trends Endocrinol Metab; 2000 Jul; 11(5):180-3. PubMed ID: 10856919
    [Abstract] [Full Text] [Related]

  • 27. Side chain hydroxylations in bile acid biosynthesis catalyzed by CYP3A are markedly up-regulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis.
    Honda A, Salen G, Matsuzaki Y, Batta AK, Xu G, Leitersdorf E, Tint GS, Erickson SK, Tanaka N, Shefer S.
    J Biol Chem; 2001 Sep 14; 276(37):34579-85. PubMed ID: 11454857
    [Abstract] [Full Text] [Related]

  • 28. Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
    Lange MC, Zétola VF, Teive HA, Scola RH, Trentin AP, Zavala JA, Pereira ER, Raskin S, Werneck LC, Sistermans EA.
    Arq Neuropsiquiatr; 2004 Dec 14; 62(4):1085-9. PubMed ID: 15608974
    [Abstract] [Full Text] [Related]

  • 29. Cerebrotendinous xanthomatosis.
    Leitersdorf E, Meiner V.
    Curr Opin Lipidol; 1994 Apr 14; 5(2):138-42. PubMed ID: 8044416
    [Abstract] [Full Text] [Related]

  • 30. Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics.
    Leitersdorf E, Safadi R, Meiner V, Reshef A, Björkhem I, Friedlander Y, Morkos S, Berginer VM.
    Am J Hum Genet; 1994 Nov 14; 55(5):907-15. PubMed ID: 7977352
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized.
    Lorincz MT, Rainier S, Thomas D, Fink JK.
    Arch Neurol; 2005 Sep 31; 62(9):1459-63. PubMed ID: 16157755
    [Abstract] [Full Text] [Related]

  • 33. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
    Moghadasian MH.
    Clin Invest Med; 2004 Feb 31; 27(1):42-50. PubMed ID: 15061585
    [Abstract] [Full Text] [Related]

  • 34. 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 31; 38(11):2322-34. PubMed ID: 9392430
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. 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]

  • 37. [27-Hydroxylase deficiency (cerebrotendinous xanthomatosis)].
    Miyamoto K, Setoguchi T.
    Ryoikibetsu Shokogun Shirizu; 1998 Jun 31; (19 Pt 2):285-8. PubMed ID: 9645063
    [No Abstract] [Full Text] [Related]

  • 38. 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]

  • 39. Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.
    Lee MJ, Huang YC, Sweeney MG, Wood NW, Reilly MM, Yip PK.
    J Neurol; 2002 Sep 31; 249(9):1311-2. PubMed ID: 12242561
    [No Abstract] [Full Text] [Related]

  • 40. Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
    Suh S, Kim HK, Park HD, Ki CS, Kim MY, Jin SM, Kim SW, Hur KY, Kim KW, Kim JH.
    Eur J Med Genet; 2012 Jan 31; 55(1):71-4. PubMed ID: 21958693
    [Abstract] [Full Text] [Related]

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