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Items: 1 to 20 of 143

1.

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.

Ann N Y Acad Sci. 2011 Dec;1242:40-55. doi: 10.1111/j.1749-6632.2011.06349.x.

PMID:
22191555
2.

Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.

Myers KC, Davies SM, Shimamura A.

Hematol Oncol Clin North Am. 2013 Feb;27(1):117-28, ix. doi: 10.1016/j.hoc.2012.10.003. Epub 2012 Nov 3. Review.

PMID:
23351992
3.

[Pediatric Shwachman-diamond syndrome: report on 5 cases and literature review].

Wen XH, Xiao JW, Yu J, Xian Y, Guan XM, Guo YX.

Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):970-4. Review. Chinese. No abstract available.

4.

Shwachman-Diamond Syndrome: are we missing many?

Kathuria R, Poddar U, Yachha SK.

Indian Pediatr. 2012 Sep;49(9):748-9.

5.

Early spontaneous recovery of exocrine pancreatic insufficiency in a 3-year-old child with Shwachman-Diamond syndrome.

Kumaraguru N, Köglmeier J.

Indian J Gastroenterol. 2014 May;33(3):295-6. doi: 10.1007/s12664-013-0388-0. No abstract available.

PMID:
24052373
6.

Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back.

Liu JM, Lipton JM, Mani S.

Ann N Y Acad Sci. 2011 Dec;1242:26-39. doi: 10.1111/j.1749-6632.2011.06348.x. Erratum in: Ann N Y Acad Sci. 2012 Jan;1247:153.

PMID:
22191554
7.

[Shwachman-Diamond syndrome].

Vinokurova LV, Dubtsova EA, Yashina NI, Shulyatyev IS, Osipenko YV.

Ter Arkh. 2014;86(2):72-5. Russian.

PMID:
24772512
8.

[Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].

Shen J, Lin K, An Y, Wu YM, Qiao ZW, Yu H, Zhu QR, Zhang T.

Zhonghua Er Ke Za Zhi. 2013 Sep;51(9):679-83. Review. Chinese.

PMID:
24330988
9.

Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.

Schaballie H, Renard M, Vermylen C, Scheers I, Revencu N, Regal L, Cassiman D, Sevenants L, Hoffman I, Corveleyn A, Bordon V, Haerynck F, Allegaert K, De Boeck K, Roskams T, Boeckx N, Bossuyt X, Meyts I.

Eur J Pediatr. 2013 May;172(5):613-22. doi: 10.1007/s00431-012-1908-0. Epub 2013 Jan 12.

PMID:
23315050
10.

Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.

Taneichi H, Kanegane H, Futatani T, Otsubo K, Nomura K, Sato Y, Hama A, Kojima S, Kohdera U, Nakano T, Hori H, Kawashima H, Inoh Y, Kamizono J, Adachi N, Osugi Y, Mizuno H, Hotta N, Yoneyama H, Nakashima E, Ikegawa S, Miyawaki T.

Int J Hematol. 2006 Jul;84(1):60-2.

PMID:
16867904
11.

Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.

Huang JN, Shimamura A.

Curr Opin Hematol. 2011 Jan;18(1):30-5. doi: 10.1097/MOH.0b013e32834114a5. Review.

12.

Shwachman-Diamond syndrome.

Dror Y.

Pediatr Blood Cancer. 2005 Dec;45(7):892-901. Review.

PMID:
16047374
13.

Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

Myers KC, Bolyard AA, Otto B, Wong TE, Jones AT, Harris RE, Davies SM, Dale DC, Shimamura A.

J Pediatr. 2014 Apr;164(4):866-70. doi: 10.1016/j.jpeds.2013.11.039. Epub 2013 Dec 31.

14.

[Shwachman-Diamond syndrome--a diagnostic challenge].

Toiviainen-Salo S, Savilahti E, Mäkitie R, Mäkitie O.

Duodecim. 2010;126(14):1711-9. Finnish.

PMID:
20804090
15.

Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.

Burroughs L, Woolfrey A, Shimamura A.

Hematol Oncol Clin North Am. 2009 Apr;23(2):233-48. doi: 10.1016/j.hoc.2009.01.007. Review.

16.
17.

MRI findings in Shwachman diamond syndrome.

Ruggiero A, Molinari F, Coccia P, Attinà G, Maurizi P, Riccardi R, Bonomo L.

Pediatr Blood Cancer. 2008 Feb;50(2):352-4.

PMID:
17183583
18.

Hematologically important mutations: Shwachman-Diamond syndrome.

Costa E, Santos R.

Blood Cells Mol Dis. 2008 Mar-Apr;40(2):183-4. Epub 2007 Oct 4.

PMID:
17916435
19.

Shwachman-Diamond syndrome.

Shimamura A.

Semin Hematol. 2006 Jul;43(3):178-88. Review.

PMID:
16822460
20.

Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.

Mercuri A, Cannata E, Perbellini O, Cugno C, Balter R, Zaccaron A, Tridello G, Pizzolo G, De Bortoli M, Krampera M, Cipolli M, Cesaro S.

Eur J Haematol. 2015 Oct;95(4):308-15. doi: 10.1111/ejh.12490. Epub 2015 Feb 10.

PMID:
25402872

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