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Items: 1 to 20 of 105

1.

Chronic pancreatic insufficiency-think of Shwachmann Diamond Syndrome.

Sanklecha M, Balani K.

Indian Pediatr. 2012 May;49(5):417-8. No abstract available.

2.

Shwachman-Diamond Syndrome: are we missing many?

Kathuria R, Poddar U, Yachha SK.

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

3.

Incidence of Shwachman-Diamond syndrome.

Minelli A, Nicolis E, Cannioto Z, Longoni D, Perobelli S, Pasquali F, Sainati L, Poli F, Cipolli M, Danesino C.

Pediatr Blood Cancer. 2012 Dec 15;59(7):1334-5. doi: 10.1002/pbc.24260. Epub 2012 Aug 8. No abstract available.

PMID:
22887728
4.

Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis.

Pressato B, Valli R, Marletta C, Mare L, Montalbano G, Lo Curto F, Pasquali F, Maserati E.

Br J Haematol. 2012 May;157(4):503-5. doi: 10.1111/j.1365-2141.2012.09033.x. Epub 2012 Feb 1. No abstract available.

PMID:
22295858
5.

Lymphoma in a case of Shwachman-Diamond syndrome: PET/CT findings.

Verbrugge J, Tulchinsky M.

Clin Nucl Med. 2012 Jan;37(1):74-6. doi: 10.1097/RLU.0b013e3182335f1f. No abstract available.

PMID:
22157033
6.

[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.

7.

Shwachman-Diamond syndrome with development of bone formation defects during prenatal life.

Beşer ÖF, Çokugras FC, Erkan T, Kutlu T, Adaletli I, Kuruğoğlu S.

J Pediatr Gastroenterol Nutr. 2014 Apr;58(4):e38-40. doi: 10.1097/MPG.0b013e318282994e. No abstract available.

PMID:
23254443
8.

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
9.

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
10.

Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.

Cho WK, Jung IA, Kim J, Chae H, Kim M, Chung NG, Suh BK.

Ann Lab Med. 2015 Mar;35(2):269-71. doi: 10.3343/alm.2015.35.2.269. Epub 2015 Feb 12. No abstract available.

11.

50 Years ago in the Journal of Pediatrics: the syndrome of pancreatic insufficiency and bone marrow dysfunction.

Hill ID.

J Pediatr. 2014 Nov;165(5):914. doi: 10.1016/j.jpeds.2014.04.042. Epub 2014 Oct 21. No abstract available.

PMID:
25441383
12.

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
13.

[Shwachman-Diamond syndrome].

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

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

PMID:
24772512
14.

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
15.

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
16.

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
17.

Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey.

Hauet Q, Beaupain B, Micheau M, Blayo M, Gandemer V, Gottrand F, Blin N, Fouyssac F, Lethor JP, Bellanné-Chantelot C, Bonnet D, Donadieu J.

Int J Cardiol. 2013 Aug 10;167(3):1048-50. doi: 10.1016/j.ijcard.2012.10.084. Epub 2012 Nov 17. No abstract available.

PMID:
23164595
18.

Pregnancy in a patient with Schwachman-Diamond syndrome.

Cordell V, Osoba L.

BMJ Case Rep. 2015 Apr 9;2015. pii: bcr2015209644. doi: 10.1136/bcr-2015-209644.

PMID:
25858947
19.

Shwachman-Diamond syndrome: the clinical imitator of cystic fibrosis.

Lozada-Muñoz L, Aliaga MD.

P R Health Sci J. 1995 Dec;14(4):275-7. Review.

PMID:
8637967
20.

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.

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