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345 results

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Combined immunodeficiency associated with DOCK8 mutations.
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC. Zhang Q, et al. Among authors: turner ml. N Engl J Med. 2009 Nov 19;361(21):2046-55. doi: 10.1056/NEJMoa0905506. Epub 2009 Sep 23. N Engl J Med. 2009. PMID: 19776401 Free PMC article.
Cutaneous manifestations of DOCK8 deficiency syndrome.
Chu EY, Freeman AF, Jing H, Cowen EW, Davis J, Su HC, Holland SM, Turner ML. Chu EY, et al. Among authors: turner ml. Arch Dermatol. 2012 Jan;148(1):79-84. doi: 10.1001/archdermatol.2011.262. Epub 2011 Sep 19. Arch Dermatol. 2012. PMID: 21931011 Free PMC article.
STAT3 mutations in the hyper-IgE syndrome.
Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B. Holland SM, et al. Among authors: turner ml. N Engl J Med. 2007 Oct 18;357(16):1608-19. doi: 10.1056/NEJMoa073687. Epub 2007 Sep 19. N Engl J Med. 2007. PMID: 17881745 Free article.
Itraconazole to prevent fungal infections in chronic granulomatous disease.
Gallin JI, Alling DW, Malech HL, Wesley R, Koziol D, Marciano B, Eisenstein EM, Turner ML, DeCarlo ES, Starling JM, Holland SM. Gallin JI, et al. Among authors: turner ml. N Engl J Med. 2003 Jun 12;348(24):2416-22. doi: 10.1056/NEJMoa021931. N Engl J Med. 2003. PMID: 12802027 Free article. Clinical Trial.
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.
Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, Spalding C, Hughes S, Pittaluga S, Raffeld M, Sorbara LR, Elloumi HZ, Kuhns DB, Turner ML, Cowen EW, Fink D, Long-Priel D, Hsu AP, Ding L, Paulson ML, Whitney AR, Sampaio EP, Frucht DM, DeLeo FR, Holland SM. Vinh DC, et al. Among authors: turner ml. Blood. 2010 Feb 25;115(8):1519-29. doi: 10.1182/blood-2009-03-208629. Epub 2009 Dec 29. Blood. 2010. PMID: 20040766 Free PMC article.
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.
Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Goldbach-Mansky R, et al. Among authors: turner ml. N Engl J Med. 2006 Aug 10;355(6):581-92. doi: 10.1056/NEJMoa055137. N Engl J Med. 2006. PMID: 16899778 Free PMC article.
Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
Avila EM, Uzel G, Hsu A, Milner JD, Turner ML, Pittaluga S, Freeman AF, Holland SM. Avila EM, et al. Among authors: turner ml. Pediatrics. 2010 Nov;126(5):e1248-52. doi: 10.1542/peds.2009-3171. Epub 2010 Oct 18. Pediatrics. 2010. PMID: 20956421
345 results