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Items: 1 to 20 of 106

1.

Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.

Scalais E, Connerotte AC, Despontin K, Biver A, Ceuterick-de Groote C, Alders M, Kolivras A, Hachem JP, De Meirleir L.

Am J Med Genet A. 2016 Jul;170(7):1799-805. doi: 10.1002/ajmg.a.37673. Epub 2016 Apr 29.

PMID:
27127007
2.

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

Jivani N, Torrado-Jule C, Vaiselbuh S, Romanos-Sirakis E.

J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1325-1327. doi: 10.1515/jpem-2016-0299.

PMID:
27754968
3.

[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
4.

[Shwachman-Diamond syndrome].

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

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

PMID:
24772512
5.

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.

Gastroenterology. 2012 Aug;143(2):481-92. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14.

PMID:
22510201
6.

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
7.

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Topa A, Tulinius M, Oldfors A, Hedberg-Oldfors C.

Am J Med Genet A. 2016 May;170A(5):1155-64. doi: 10.1002/ajmg.a.37593. Epub 2016 Feb 11.

PMID:
26866830
8.

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.

Stepensky P, Chacón-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Méndez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sánchez-Puig N, Elpeleg O.

J Med Genet. 2017 Aug;54(8):558-566. doi: 10.1136/jmedgenet-2016-104366. Epub 2017 Mar 22.

PMID:
28331068
9.

Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs.

In K, Zaini MA, Müller C, Warren AJ, von Lindern M, Calkhoven CF.

Nucleic Acids Res. 2016 May 19;44(9):4134-46. doi: 10.1093/nar/gkw005. Epub 2016 Jan 13.

10.

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
11.

Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.

Myers KC, Rose SR, Rutter MM, Mehta PA, Khoury JC, Cole T, Harris RE.

J Pediatr. 2013 Jun;162(6):1235-40, 1240.e1. doi: 10.1016/j.jpeds.2012.11.062. Epub 2013 Jan 8.

12.

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.

13.

Shwachman-Diamond Syndrome: are we missing many?

Kathuria R, Poddar U, Yachha SK.

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

14.

Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

Burwick N, Coats SA, Nakamura T, Shimamura A.

Blood. 2012 Dec 20;120(26):5143-52. doi: 10.1182/blood-2012-04-420166. Epub 2012 Oct 31.

15.

Defective ribosome assembly in Shwachman-Diamond syndrome.

Wong CC, Traynor D, Basse N, Kay RR, Warren AJ.

Blood. 2011 Oct 20;118(16):4305-12. doi: 10.1182/blood-2011-06-353938. Epub 2011 Jul 29.

16.

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
17.

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA.

BMC Med Genet. 2014 Jun 4;15:64. doi: 10.1186/1471-2350-15-64.

18.
19.

Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.

Tulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ.

Cell Stem Cell. 2013 Jun 6;12(6):727-36. doi: 10.1016/j.stem.2013.04.002. Epub 2013 Apr 18.

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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