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Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H: Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. J Med Genet 42:551, 2005.
Ferguson PJ, Bing X, Vasef M, Ochoa L, Mahgoub A, Waldschmidt T, Tygrett L, Schlueter A, El-Shanti, H: A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone 38:41, 2006. Al-Mosawi ZS, Al-Saad KK, Ijadi-Magsoodi R, El-Shanti H, Ferguson PJ: A splice site mutation confirms the role of LPIN2 in Majeed Syndrome. Arthritis Rheum 56:960, 2007. El-Shanti HI, Ferguson PJ: Chronic Recurrent Multifocal Osteomyelitis: A Concise Review and a Genetic Update. Clin Orthop Relat Res 462:11, 2007. Ochoa L, Ferguson PJ, El-Shanti HI: Chronic Recurrent Multifocal Osteomyelitis (CRMO): An illustrative case. J Musculoskel Med :340, 2007 [also reprinted by the editors in Consultant for Pediatricians]. Ferguson PJ, El-Shanti HI: Autoinflammatory Bone Disorders. Curr Opin Rheumatol 19(5):492-8, 2007. Ferguson PJ, Lokuta MA, Muhle L, El-Shanti H, Bing X, Huttenlocher A: Neutrophil dysfunction in a family with a SAPHO-like phenotype. Arthritis Rheum, 58:3264, 2008. Sato TS, Ferguson PJ, Khanna G: Primary Multifocal Osseous Lymphoma in a Child. Pediatr Rad, available on-line September 9, 2008 at http://dx.doi.org/10.1007/s00247-008-0964-0. Bassuk AG, Wallace RH, Buhr A, Buller A, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Shu W, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Afawi Z, Neufeld MY, Korczyn AD, Kivity S, Mazarib A, Straussberg R, Walid S, Slusarski DC, Berkovic SM, & El-Shanti HI. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonic epilepsy-ataxia syndrome. Am J Hum Genet, 83:572, 2008. Khanna G, Sato TSP, Ferguson PJ: Imaging of Chronic Recurrent Multifocal Osteomyelitis. Radiographics 29:1159, 2009. *Aksentijevich I/*Masters SL/*Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen E, Turner ML, Pham T-H, Booty M, Estes JD, Sandler N, Plass N, Stone D, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee C-CR, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman B, Gregersen PK, van Hagen M, A. Hak E, Huizing M, Rahman P, Douek D, Remmers EF, Kastner DL, Goldbach-Mansky R. Deficiency of the Interleukin-1 Receptor Antagonist (DIRA)-A Systemic Autoinflammatory Disease of Skin and Bone. * The first three authors contributed equally to this work. N Engl J Med 360:2426, 2009. Chitu V, Ferguson PJ, de Bruijn R, Schlueter A, Ochoa L, Waldschmidt TJ, Yeung Y-G, Stanley ER: Primed innate immunity leads to autoinflammatory disease in the Pstpip2 deficient cmo mouse. Blood 114:2497, 2009. Matiz C, Ferguson PJ, Zaenglein A, Groh B, Bingham CA: Papular Xanthoma and Erosive Arthritis in a 3 year old girl: Is this a New MRH variant? Pediatr Rheum 7:15, 2009 |