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    Results: 1 to 20 of 23

    1.

    Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort.

    Maher BH, Kerr M, Cox HC, MacMillan JC, Brimage PJ, Esposito T, Gianfrancesco F, Haupt LM, Nyholt DR, Lea RA, Griffiths LR.

    Neurogenetics. 2012 Feb;13(1):97-101. doi: 10.1007/s10048-011-0312-7.

    PMID:
    22294494
    [PubMed - indexed for MEDLINE]
    2.

    Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.

    Oudesluijs G, Simon ME, Burggraaf RH, Waterham HR, Hennekam RC.

    Am J Med Genet A. 2012 Feb;158A(2):292-7. doi: 10.1002/ajmg.a.34396. Epub 2011 Dec 2.

    PMID:
    22140078
    [PubMed - indexed for MEDLINE]
    3.

    Expression profile of NSDHL in human peripheral tissues.

    Morimoto M, Souich Cd, Trinh J, McLarren KW, Boerkoel CF, Hendson G.

    J Mol Histol. 2012 Feb;43(1):95-106. doi: 10.1007/s10735-011-9375-x. Epub 2011 Nov 24.

    PMID:
    22113624
    [PubMed - indexed for MEDLINE]
    4.

    Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.

    Horvat S, McWhir J, Rozman D.

    Drug Metab Rev. 2011 Feb;43(1):69-90. doi: 10.3109/03602532.2010.540580. Review.

    PMID:
    21247357
    [PubMed - indexed for MEDLINE]
    5.

    Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

    McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF.

    Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004.

    PMID:
    21129721
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.

    Danarti R, Grzeschik KH, Radiono S, König A, Happle R.

    Eur J Dermatol. 2010 Sep-Oct;20(5):634-5. doi: 10.1684/ejd.2010.0995. Epub 2010 Jul 7. No abstract available.

    PMID:
    20605772
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder.

    Avgerinou GP, Asvesti AP, Katsambas AD, Nikolaou VA, Christofidou EC, Grzeschik KH, Happle R.

    J Eur Acad Dermatol Venereol. 2010 Jun;24(6):733-6. doi: 10.1111/j.1468-3083.2009.03483.x. Epub 2009 Nov 2.

    PMID:
    19906044
    [PubMed - indexed for MEDLINE]
    8.

    Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

    Cunningham D, Talabere T, Bir N, Kennedy M, McBride KL, Herman GE.

    Hum Mol Genet. 2010 Jan 15;19(2):364-73. doi: 10.1093/hmg/ddp502. Epub 2009 Oct 30.

    PMID:
    19880419
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.

    Cunningham D, Spychala K, McLarren KW, Garza LA, Boerkoel CF, Herman GE.

    Mol Genet Metab. 2009 Dec;98(4):356-66. doi: 10.1016/j.ymgme.2009.06.016. Epub 2009 Jul 4.

    PMID:
    19631568
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Proteomic analysis of enriched lysosomes at early phase of camptothecin-induced apoptosis in human U-937 cells.

    Parent N, Winstall E, Beauchemin M, Paquet C, Poirier GG, Bertrand R.

    J Proteomics. 2009 Aug 20;72(6):960-73. doi: 10.1016/j.jprot.2009.04.003. Epub 2009 Apr 23.

    PMID:
    19393779
    [PubMed - indexed for MEDLINE]
    11.

    Colony-stimulating factor-1 (CSF-1) delivers a proatherogenic signal to human macrophages.

    Irvine KM, Andrews MR, Fernandez-Rojo MA, Schroder K, Burns CJ, Su S, Wilks AF, Parton RG, Hume DA, Sweet MJ.

    J Leukoc Biol. 2009 Feb;85(2):278-88. doi: 10.1189/jlb.0808497. Epub 2008 Nov 12.

    PMID:
    19004987
    [PubMed - indexed for MEDLINE]
    Free Article
    12.

    Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

    Schmidt-Sidor B, Obersztyn E, Szymańska K, Wychowski J, Mierzewska H, Wierzba-Bobrowicz T, Stepień T.

    Folia Neuropathol. 2008;46(3):232-7.

    PMID:
    18825599
    [PubMed - indexed for MEDLINE]
    13.

    A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing.

    Saito M, Ishiko A.

    Br J Dermatol. 2008 Nov;159(5):1204-6. doi: 10.1111/j.1365-2133.2008.08800.x. Epub 2008 Sep 1. No abstract available.

    PMID:
    18764845
    [PubMed - indexed for MEDLINE]
    14.

    Functional analysis of cholesterol biosynthesis by RNA interference.

    Guggenberger C, Ilgen D, Adamski J.

    J Steroid Biochem Mol Biol. 2007 May;104(3-5):105-9. Epub 2007 Mar 12.

    PMID:
    17498944
    [PubMed - indexed for MEDLINE]
    15.

    CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.

    Bittar M, Happle R, Grzeschik KH, Leveleki L, Hertl M, Bornholdt D, König A.

    Arch Dermatol. 2006 Mar;142(3):348-51.

    PMID:
    16549711
    [PubMed - indexed for MEDLINE]
    16.

    A novel somatic mutation of the 3beta-hydroxysteroid dehydrogenase gene in sporadic cutaneous verruciform xanthoma.

    Mehra S, Li L, Fan CY, Smoller B, Morgan M, Somach S.

    Arch Dermatol. 2005 Oct;141(10):1263-7.

    PMID:
    16230564
    [PubMed - indexed for MEDLINE]
    17.

    CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.

    Kim CA, Konig A, Bertola DR, Albano LM, Gattás GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH.

    Dermatology. 2005;211(2):155-8.

    PMID:
    16088165
    [PubMed - indexed for MEDLINE]
    18.

    Mutational spectrum of NSDHL in CHILD syndrome.

    Bornholdt D, König A, Happle R, Leveleki L, Bittar M, Danarti R, Vahlquist A, Tilgen W, Reinhold U, Poiares Baptista A, Grosshans E, Vabres P, Niiyama S, Sasaoka K, Tanaka T, Meiss AL, Treadwell PA, Lambert D, Camacho F, Grzeschik KH.

    J Med Genet. 2005 Feb;42(2):e17. No abstract available.

    PMID:
    15689440
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    CHILD syndrome avant la lettre.

    Bittar M, Happle R.

    J Am Acad Dermatol. 2004 Feb;50(2 Suppl):S34-7.

    PMID:
    14726863
    [PubMed - indexed for MEDLINE]
    20.

    A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome.

    Murata K, Shinkai H, Ishikiriyama S, Yamazaki M, Fukuzumi Y, Hatamochi A.

    J Dermatol Sci. 2003 Oct;33(1):67-9. No abstract available.

    PMID:
    14527740
    [PubMed - indexed for MEDLINE]

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