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255 results
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Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. Boocock GR, et al. Among authors: durie pr. Nat Genet. 2003 Jan;33(1):97-101. doi: 10.1038/ng1062. Epub 2002 Dec 23. Nat Genet. 2003. PMID: 12496757
Breast cancer in a case of Shwachman Diamond syndrome.
Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM. Singh SA, et al. Pediatr Blood Cancer. 2012 Nov;59(5):945-6. doi: 10.1002/pbc.24052. Epub 2011 Dec 27. Pediatr Blood Cancer. 2012. PMID: 22213587
Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.
Toiviainen-Salo S, Mäyränpää MK, Durie PR, Richards N, Grynpas M, Ellis L, Ikegawa S, Cole WG, Rommens J, Marttinen E, Savilahti E, Mäkitie O. Toiviainen-Salo S, et al. Among authors: durie pr. Bone. 2007 Dec;41(6):965-72. doi: 10.1016/j.bone.2007.08.035. Epub 2007 Sep 5. Bone. 2007. PMID: 17920346
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
Ji SG, Juran BD, Mucha S, Folseraas T, Jostins L, Melum E, Kumasaka N, Atkinson EJ, Schlicht EM, Liu JZ, Shah T, Gutierrez-Achury J, Boberg KM, Bergquist A, Vermeire S, Eksteen B, Durie PR, Farkkila M, Müller T, Schramm C, Sterneck M, Weismüller TJ, Gotthardt DN, Ellinghaus D, Braun F, Teufel A, Laudes M, Lieb W, Jacobs G, Beuers U, Weersma RK, Wijmenga C, Marschall HU, Milkiewicz P, Pares A, Kontula K, Chazouillères O, Invernizzi P, Goode E, Spiess K, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J, Floreani A, Gulamhusein AF, Eaton JE, Schreiber S, Coltescu C, Bowlus CL, Luketic VA, Odin JA, Chopra KB, Kowdley KV, Chalasani N, Manns MP, Srivastava B, Mells G, Sandford RN, Alexander G, Gaffney DJ, Chapman RW, Hirschfield GM, de Andrade M; UK-PSC Consortium; International IBD Genetics Consortium; International PSC Study Group, Rushbrook SM, Franke A, Karlsen TH, Lazaridis KN, Anderson CA. Ji SG, et al. Among authors: durie pr. Nat Genet. 2017 Feb;49(2):269-273. doi: 10.1038/ng.3745. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992413 Free PMC article.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Zenker M, et al. Among authors: durie pr. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM. Dror Y, et al. Ann N Y Acad Sci. 2011 Dec;1242:40-55. doi: 10.1111/j.1749-6632.2011.06349.x. Ann N Y Acad Sci. 2011. PMID: 22191555
255 results