Durie PR - Search Results

1

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

2

Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.

Toiviainen-Salo S, Raade M, Durie PR, Ip W, Marttinen E, Savilahti E, Mäkitie O. Toiviainen-Salo S, et al. Among authors: durie pr. J Pediatr. 2008 Mar;152(3):434-6. doi: 10.1016/j.jpeds.2007.12.013. J Pediatr. 2008. PMID: 18280855

3

The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood.

Toiviainen-Salo S, Durie PR, Numminen K, Heikkilä P, Marttinen E, Savilahti E, Mäkitie O. Toiviainen-Salo S, et al. Among authors: durie pr. J Pediatr. 2009 Dec;155(6):807-811.e2. doi: 10.1016/j.jpeds.2009.06.047. Epub 2009 Aug 14. J Pediatr. 2009. PMID: 19683257

4

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

5

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

6

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

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

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

257 results

Search Page

Filters