Format
Sort by
Items per page

Send to

Choose Destination

Selected items

Items: 20

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.

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.

3.

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

Finch AJ, Hilcenko C, Basse N, Drynan LF, Goyenechea B, Menne TF, González Fernández A, Simpson P, D'Santos CS, Arends MJ, Donadieu J, Bellanné-Chantelot C, Costanzo M, Boone C, McKenzie AN, Freund SM, Warren AJ.

Genes Dev. 2011 May 1;25(9):917-29. doi: 10.1101/gad.623011.

4.

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.

5.

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.

6.

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.

Donadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, Lambilliotte A, Aladjidi N, Bertrand Y, Mialou V, Perot C, Michel G, Fouyssac F, Paillard C, Gandemer V, Boutard P, Schmitz J, Morali A, Leblanc T, Bellanné-Chantelot C; Associated investigators of the French Severe Chronic Neutropenia Registry*..

Haematologica. 2012 Sep;97(9):1312-9.

7.

Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.

Burwick N, Shimamura A, Liu JM.

Semin Hematol. 2011 Apr;48(2):136-43. doi: 10.1053/j.seminhematol.2011.01.002. Review.

8.
9.

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. Review.

PMID:
22201042
10.

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.

PMID:
22510201
11.

Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM.

Nat Genet. 2003 Jan;33(1):97-101.

PMID:
12496757
12.

Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.

Sezgin G, Henson AL, Nihrane A, Singh S, Wattenberg M, Alard P, Ellis SR, Liu JM.

Pediatr Blood Cancer. 2013 Feb;60(2):281-6. doi: 10.1002/pbc.24300.

PMID:
22997148
13.

Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients.

Perobelli S, Nicolis E, Assael BM, Cipolli M.

Am J Med Genet A. 2012 Mar;158A(3):567-73. doi: 10.1002/ajmg.a.35211.

PMID:
22315206
14.

Shwachman-Diamond Syndrome.

Myers K.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Jul 17 [updated 2014 Sep 11].

15.

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.

16.

Shwachman-Diamond syndrome.

Shimamura A.

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

PMID:
16822460
17.

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
18.

Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects.

André V, Longoni D, Bresolin S, Cappuzzello C, Dander E, Galbiati M, Bugarin C, Di Meglio A, Nicolis E, Maserati E, Serafini M, Warren AJ, Te Kronnie G, Cazzaniga G, Sainati L, Cipolli M, Biondi A, D'Amico G.

Blood Cancer J. 2012 Oct 12;2:e94. doi: 10.1038/bcj.2012.40.

19.

Shwachman-Diamond syndrome: diarrhea, no longer required?

Andolina JR, Morrison CB, Thompson AA, Chaudhury S, Mack AK, Proytcheva M, Corey SJ.

J Pediatr Hematol Oncol. 2013 Aug;35(6):486-9. doi: 10.1097/MPH.0b013e3182667c13.

20.

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.

Supplemental Content

Support Center