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Items: 1 to 20 of 99

1.

Proteolytic autodigestion: common tissue pathology in Shwachman-Diamond syndrome?

Kelley JM, Tulpule A, Daley GQ.

Cell Cycle. 2013;12(22):3457-8. doi: 10.4161/cc.26698. Epub 2013 Oct 8. No abstract available.

PMID:
24107623
2.

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.

PMID:
23602541
3.

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
4.

Bispectral index monitoring in a patient with combination of congenital insensitivity to pain with anhidrosis (CIPA) and Shwachman-Diamond syndrome.

Degerli S, Altınel S, Horasanlı E.

J Anesth. 2014 Feb;28(1):137-8. doi: 10.1007/s00540-013-1668-7. Epub 2013 Jul 5. No abstract available.

PMID:
23828451
5.

[Shwachman-Diamond syndrome].

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

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

PMID:
24772512
6.

Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.

Nakaya T, Kurata A, Hashimoto H, Nishimata S, Kashiwagi Y, Fujita K, Kawashima H, Kuroda M.

Pathol Int. 2014 Feb;64(2):75-80. doi: 10.1111/pin.12133.

PMID:
24629175
7.

Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome.

Necchi V, Minelli A, Sommi P, Vitali A, Caruso R, Longoni D, Frau MR, Nasi C, De Gregorio F, Zecca M, Ricci V, Danesino C, Solcia E.

Haematologica. 2012 Jul;97(7):1057-63. doi: 10.3324/haematol.2011.048462. Epub 2012 Jan 22.

PMID:
22271888
8.

Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.

Perobelli S, Alessandrini F, Zoccatelli G, Nicolis E, Beltramello A, Assael BM, Cipolli M.

Neuroimage Clin. 2015 Feb 27;7:721-31. doi: 10.1016/j.nicl.2015.02.014. eCollection 2015.

PMID:
25844324
9.

Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.

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

Br J Haematol. 2014 May;165(4):573-5. doi: 10.1111/bjh.12767. Epub 2014 Feb 1. No abstract available.

PMID:
24484588
10.

Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.

Parikh S, Perdigones N, Paessler M, Greenbaum B, Tooke LS, Biegel JA, Mason PJ, Bessler M.

Br J Haematol. 2012 Nov;159(4):480-2. doi: 10.1111/bjh.12032. Epub 2012 Aug 31. No abstract available.

PMID:
22934832
11.

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
12.

Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome.

Henson AL, Moore JB 4th, Alard P, Wattenberg MM, Liu JM, Ellis SR.

Biochem Biophys Res Commun. 2013 Jul 19;437(1):29-34. doi: 10.1016/j.bbrc.2013.06.028. Epub 2013 Jun 19.

PMID:
23792098
13.

In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.

Tourlakis ME, Zhang S, Ball HL, Gandhi R, Liu H, Zhong J, Yuan JS, Guidos CJ, Durie PR, Rommens JM.

PLoS Genet. 2015 Jun 9;11(6):e1005288. doi: 10.1371/journal.pgen.1005288. eCollection 2015 Jun.

PMID:
26057580
14.

Special feature: pathological case of the month. Shwachman-Diamond syndrome: a syndrome of pancreatic insufficiency and bone marrow dysfunction.

Kakkar N, Vasishta RK, Marwaha N, Marwaha RK.

Arch Pediatr Adolesc Med. 2001 May;155(5):611-2. No abstract available.

PMID:
11343509
15.

Shwachman-Diamond syndrome.

Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P.

Musculoskelet Surg. 2012 Aug;96(2):81-8. doi: 10.1007/s12306-011-0174-z. Epub 2011 Dec 27. Review.

PMID:
22201042
16.

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.

PMID:
19327581
17.

Translational medicine: ribosomopathies.

Narla A, Ebert BL.

Blood. 2011 Oct 20;118(16):4300-1. doi: 10.1182/blood-2011-08-372250. No abstract available.

PMID:
22021450
18.

[Congenital hypoplasia of the pancreas with lipomatosis and bone marrow dysfunction (Shwachman syndrome)].

Zaĭrat'iants OV, Miagkova LP, Podymova SD, Mel'nichenko GA, Burmakin IuA.

Arkh Patol. 1991;53(7):71-4. Russian.

PMID:
1741673
19.

Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?

Johnson AW, Ellis SR.

Genes Dev. 2011 May 1;25(9):898-900. doi: 10.1101/gad.2053011.

PMID:
21536731
20.

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.

PMID:
21803848
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