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    Results: 13

    1.

    Efficacy of anti-IL-1 treatment in Majeed syndrome.

    Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X, Ferguson PJ.

    Ann Rheum Dis. 2013 Mar;72(3):410-3. doi: 10.1136/annrheumdis-2012-201818. Epub 2012 Oct 20.

    PMID:
    23087183
    [PubMed - indexed for MEDLINE]
    2.

    Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis.

    Ferguson PJ, Sandu M.

    Curr Rheumatol Rep. 2012 Apr;14(2):130-41. doi: 10.1007/s11926-012-0239-5. Review.

    PMID:
    22359228
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.

    Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M, Yang B, Bertola DR, Carneiro-Sampaio M, Ferguson PJ, Renshaw BR, Schooley K, Brown M, Al-Dosari A, Al-Alami J, Sims JE, Goldbach-Mansky R, El-Shanti H.

    Arthritis Rheum. 2011 Dec;63(12):4007-17. doi: 10.1002/art.30588.

    PMID:
    22127713
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Pediatric hereditary autoinflammatory syndromes.

    Jesus AA, Oliveira JB, Hilário MO, Terreri MT, Fujihira E, Watase M, Carneiro-Sampaio M, Silva CA.

    J Pediatr (Rio J). 2010 Sep-Oct;86(5):353-66. doi: 10.2223/JPED.2015. Review. English, Portuguese.

    PMID:
    20938587
    [PubMed - indexed for MEDLINE]
    Free Article
    5.

    Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes.

    Hurtado-Nedelec M, Chollet-Martin S, Chapeton D, Hugot JP, Hayem G, Gérard B.

    J Rheumatol. 2010 Feb;37(2):401-9. doi: 10.3899/jrheum.090456. Epub 2009 Dec 23.

    PMID:
    20032092
    [PubMed - indexed for MEDLINE]
    6.

    A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2.

    Donkor J, Zhang P, Wong S, O'Loughlin L, Dewald J, Kok BP, Brindley DN, Reue K.

    J Biol Chem. 2009 Oct 23;284(43):29968-78. doi: 10.1074/jbc.M109.023663. Epub 2009 Aug 28.

    PMID:
    19717560
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Autoinflammatory syndromes behind the scenes of recurrent fevers in children.

    Rigante D.

    Med Sci Monit. 2009 Aug;15(8):RA179-87. Review.

    PMID:
    19644432
    [PubMed - indexed for MEDLINE]
    8.

    The lipin family: mutations and metabolism.

    Reue K.

    Curr Opin Lipidol. 2009 Jun;20(3):165-70. doi: 10.1097/MOL.0b013e32832adee5. Review.

    PMID:
    19369868
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Diagnosis and management of autoinflammatory diseases in childhood.

    Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A.

    J Clin Immunol. 2008 May;28 Suppl 1:S73-83. doi: 10.1007/s10875-008-9178-3. Epub 2008 Mar 27. Review.

    PMID:
    18368292
    [PubMed - indexed for MEDLINE]
    10.

    Autoinflammatory bone disorders.

    Ferguson PJ, El-Shanti HI.

    Curr Opin Rheumatol. 2007 Sep;19(5):492-8. Review.

    PMID:
    17762617
    [PubMed - indexed for MEDLINE]
    11.

    Chronic recurrent multifocal osteomyelitis: a concise review and genetic update.

    El-Shanti HI, Ferguson PJ.

    Clin Orthop Relat Res. 2007 Sep;462:11-9. Review.

    PMID:
    17496555
    [PubMed - indexed for MEDLINE]
    12.

    A splice site mutation confirms the role of LPIN2 in Majeed syndrome.

    Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, El-Shanti HI, Ferguson PJ.

    Arthritis Rheum. 2007 Mar;56(3):960-4.

    PMID:
    17330256
    [PubMed - indexed for MEDLINE]
    Free Article
    13.

    Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

    Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H.

    J Med Genet. 2005 Jul;42(7):551-7.

    PMID:
    15994876
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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