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Journal Abstract Search

170 related items for PubMed ID: 18764845

  • 21. A novel mutation in the 12(R)-lipoxygenase (ALOX12B) gene underlies nonbullous congenital ichthyosiform erythroderma.
    Ashoor G, Massé M, García Luciano LM, Sheffer R, Martinez-Mir A, Christiano AM, Zlotogorski A.
    Br J Dermatol; 2006 Jul; 155(1):198-200. PubMed ID: 16792775
    [No Abstract] [Full Text] [Related]

  • 22. The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
    Seeger MA, Paller AS.
    Biochim Biophys Acta; 2014 Mar; 1841(3):345-52. PubMed ID: 24060582
    [Abstract] [Full Text] [Related]

  • 23. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.
    Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE.
    Am J Med Genet A; 2003 Oct 15; 122A(3):246-51. PubMed ID: 12966526
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  • 24. CHILD syndrome in a boy.
    Happle R, Effendy I, Megahed M, Orlow SJ, Küster W.
    Am J Med Genet; 1996 Mar 15; 62(2):192-4. PubMed ID: 8882402
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  • 27. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
    König A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH.
    J Am Acad Dermatol; 2002 Apr 15; 46(4):594-6. PubMed ID: 11907515
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  • 28. Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.
    Estapé A, Josifova D, Rampling D, Glover M, Kinsler VA.
    Br J Dermatol; 2015 Jul 15; 173(1):304-7. PubMed ID: 25533639
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  • 32. 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 15; 24(6):733-6. PubMed ID: 19906044
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  • 33. A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome.
    Mizuno Y, Suga Y, Haruna K, Muramatsu S, Hasegawa T, Kohroh K, Shimizu T, Komatsu N, Ogawa H, Ikeda S.
    Clin Exp Dermatol; 2006 Sep 15; 31(5):677-80. PubMed ID: 16901309
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  • 34. Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.
    Sprecher E, Tesfaye-Kedjela A, Ratajczak P, Bergman R, Richard G.
    Clin Exp Dermatol; 2004 Sep 15; 29(5):513-7. PubMed ID: 15347338
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  • 35. 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 15; 142(3):348-51. PubMed ID: 16549711
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  • 36. Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
    Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G.
    Dermatology; 2005 Mar 15; 210(4):308-14. PubMed ID: 15942217
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  • 38. A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.
    Vallée D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, Picketts DJ.
    J Med Genet; 2004 Oct 15; 41(10):778-83. PubMed ID: 15466013
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  • 39. [Genetic morphologic fatal syndromes. Neu-Laxova syndrome].
    Henkel KE, Pfeiffer RA, Stöss H.
    Pathologe; 1993 Sep 15; 14(5):271-3. PubMed ID: 8415438
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  • 40. SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome.
    Zhao Y, Ma ZH, Yang Y, Yang SX, Wu LS, Ding BL, Lin ZM, Wang AP, Bu DF, Tu P.
    Clin Exp Dermatol; 2007 Sep 15; 32(5):564-7. PubMed ID: 17608759
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