Durie PR - Search Results

1

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Dhanraj S, et al. Among authors: durie pr. Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. Blood. 2017. PMID: 28062395 Free article. Clinical Trial. No abstract available.

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

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

4

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

5

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

6

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

7

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

8

Duplication of distal thumb phalanx in Shwachman-Diamond syndrome.

Dror Y, Durie P, Marcon P, Freedman MH. Dror Y, et al. Am J Med Genet. 1998 Jun 16;78(1):67-9. Am J Med Genet. 1998. PMID: 9637427

9

Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome.

Dror Y, Squire J, Durie P, Freedman MH. Dror Y, et al. Leukemia. 1998 Oct;12(10):1591-5. doi: 10.1038/sj.leu.2401147. Leukemia. 1998. PMID: 9766504

10

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

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