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   LYSTbase
   Variation registry for  Chediak-Higashi syndrome


LYSTbase mutation publications

[2010] [2009] [2005] [2002] [2000] [1999] [1997] [1996]

Search PubMed latest citations for LYST mutations

    2010

  • Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
    Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M
    Am J Med Genet A 2010(6): 1474-83 [PubMed abstract].

  • Two novel mutations identified in an african-american child with chediak-higashi syndrome.
    Morrone K, Wang Y, Huizing M, Sutton E, White JG, Gahl WA, Moody K
    Case Report Med 2010(): 967535 [PubMed abstract].

    2009

  • Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).
    Scherber E, Beutel K, Ganschow R, Schulz A, Janka G, Stadt U
    Clin Genet 2009(4): 409-12 [PubMed abstract].

    2005

  • Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
    Zarzour W, Kleta R, Frangoul H, Suwannarat P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun M, White J, Filipovich AH, Gahl WA
    Mol Genet Metab 2005(2): 125-32 [PubMed abstract].

    2002

  • Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.
    Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro J, Russo C, Uyama E, Vierimaa O, Spritz RA
    Am J Med Genet 2002(1): 16-22 [PubMed abstract].

    2000

  • Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.
    Certain S, Barrat F, Pastural E, Le Deist F, Goyo-Rivas J, Jabado N, Benkerrou M, Seger R, Vilmer E, Beullier G, Schwarz K, Fischer A, de Saint Basile G
    Blood 2000(3): 979-83 [PubMed abstract].

    1999

  • Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
    Dufourcq-Lagelouse R, Lambert N, Duval M, Viot G, Vilmer E, Fischer A, Prieur M, de Saint Basile G
    Eur J Hum Genet 1999(6): 633-7 [PubMed abstract].

    1997

  • Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
    Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF
    Hum Mol Genet 1997(7): 1091-8 [PubMed abstract].

  • Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.
    Karim MA, Nagle DL, Kandil HH, Bürger J, Moore KJ, Spritz RA
    Hum Mol Genet 1997(7): 1087-9 [PubMed abstract].

    1996

  • Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.
    Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ
    Nat Genet 1996(3): 307-11 [PubMed abstract].

  • Identification of the homologous beige and Chediak-Higashi syndrome genes.
    Barbosa MD, Nguyen QA, Tchernev VT, Ashley JA, Detter JC, Blaydes SM, Brandt SJ, Chotai D, Hodgman C, Solari RC, Lovett M, Kingsmore SF
    Nature 1996(6588): 262-5 [PubMed abstract].