Durie PR - Search Results

1

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

Mäkitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG. Mäkitie O, et al. Among authors: durie pr. Clin Genet. 2004 Feb;65(2):101-12. doi: 10.1111/j.0009-9163.2004.00198.x. Clin Genet. 2004. PMID: 14984468

2

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

3

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene.

Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM. Popovic M, et al. Among authors: durie pr. Eur J Hum Genet. 2002 Apr;10(4):250-8. doi: 10.1038/sj.ejhg.5200798. Eur J Hum Genet. 2002. PMID: 12032733

4

Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome.

Ip WF, Dupuis A, Ellis L, Beharry S, Morrison J, Stormon MO, Corey M, Rommens JM, Durie PR. Ip WF, et al. Among authors: durie pr. J Pediatr. 2002 Aug;141(2):259-65. doi: 10.1067/mpd.2002.125849. J Pediatr. 2002. PMID: 12183724 Clinical Trial.

5

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

6

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

7

The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function.

Kerr EN, Ellis L, Dupuis A, Rommens JM, Durie PR. Kerr EN, et al. Among authors: durie pr. J Pediatr. 2010 Mar;156(3):433-8. doi: 10.1016/j.jpeds.2009.09.026. Epub 2009 Nov 10. J Pediatr. 2010. PMID: 19906387

8

Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome.

Stormon MO, Ip WF, Ellis L, Schibli S, Rommens JM, Durie PR. Stormon MO, et al. Among authors: durie pr. J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):8-13. doi: 10.1097/MPG.0b013e3181d67e78. J Pediatr Gastroenterol Nutr. 2010. PMID: 20512054

9

Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.

Tourlakis ME, Zhong J, Gandhi R, Zhang S, Chen L, Durie PR, Rommens JM. Tourlakis ME, et al. Among authors: durie pr. Gastroenterology. 2012 Aug;143(2):481-92. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14. Gastroenterology. 2012. PMID: 22510201

10

Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation.

Goobie S, Morrison J, Ginzberg H, Ellis L, Corey M, Masuno M, Imaizumi K, Kuroki Y, Fujiwara TM, Morgan K, Durie PR, Rommens JM. Goobie S, et al. Among authors: durie pr. Am J Med Genet. 1999 Jul 16;85(2):171-4. doi: 10.1002/(sici)1096-8628(19990716)85:2<171::aid-ajmg12>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10406671

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