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Results: 1 to 20 of 78

PubMed Links for Books (Select 1474732)

1.

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.

2.

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.

3.

CNS lymphoma in a patient with Shwachman Diamond syndrome.

Sharma A, Sadimin E, Drachtman R, Glod J.

Pediatr Blood Cancer. 2014 Mar;61(3):564-6. doi: 10.1002/pbc.24743. Epub 2013 Nov 8. No abstract available.

PMID:
24307640
4.

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
5.

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.

PMID:
23305959
6.

Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype.

Booij J, Reneman L, Alders M, Kuijpers TW.

Am J Med Genet A. 2013 Jan;161A(1):102-7. doi: 10.1002/ajmg.a.35687. Epub 2012 Dec 14.

PMID:
23239620
7.

Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.

Aalbers AM, Calado RT, Young NS, Zwaan CM, Kajigaya S, Baruchel A, Geleijns K, de Haas V, Kaspers GJ, Reinhardt D, Trka J, Kuijpers TW, Pieters R, van der Velden VH, van den Heuvel-Eibrink MM.

Br J Haematol. 2013 Feb;160(4):559-61. doi: 10.1111/bjh.12134. Epub 2012 Nov 28. No abstract available.

8.

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. Epub 2012 Apr 4.

9.

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. Epub 2012 Feb 7.

PMID:
22315206
10.

Breast cancer in a case of Shwachman Diamond syndrome.

Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM.

Pediatr Blood Cancer. 2012 Nov;59(5):945-6. doi: 10.1002/pbc.24052. Epub 2011 Dec 27.

PMID:
22213587
11.

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
12.

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.

13.

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.

14.

Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome.

Sack JE, Kuchnir L, Demierre MF.

Pediatr Dermatol. 2011 Sep-Oct;28(5):568-9. doi: 10.1111/j.1525-1470.2010.01244.x. Epub 2010 Nov 12.

PMID:
21073512
15.

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.

Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Beyene J, Dror Y.

Clin Genet. 2011 May;79(5):448-58. doi: 10.1111/j.1399-0004.2010.01468.x.

PMID:
20569259
16.

Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome.

Stormon MO, Ip WF, Ellis L, Schibli S, Rommens JM, Durie PR.

J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):8-13. doi: 10.1097/MPG.0b013e3181d67e78.

PMID:
20512054
17.

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS.

Br J Haematol. 2010 Jul;150(2):179-88. doi: 10.1111/j.1365-2141.2010.08212.x. Epub 2010 Apr 30.

18.

Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome.

Shah N, Cambrook H, Koglmeier J, Mason C, Ancliff P, Lindley K, Smith VV, Bajaj-Elliott M, Sebire NJ.

J Clin Pathol. 2010 Jul;63(7):592-4. doi: 10.1136/jcp.2010.077677. Epub 2010 May 24.

PMID:
20501449
19.

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Ben Barak A, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP.

Haematologica. 2010 Aug;95(8):1300-7. doi: 10.3324/haematol.2009.018119. Epub 2010 Apr 30.

20.

Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia.

Raaijmakers MH, Mukherjee S, Guo S, Zhang S, Kobayashi T, Schoonmaker JA, Ebert BL, Al-Shahrour F, Hasserjian RP, Scadden EO, Aung Z, Matza M, Merkenschlager M, Lin C, Rommens JM, Scadden DT.

Nature. 2010 Apr 8;464(7290):852-7. doi: 10.1038/nature08851. Epub 2010 Mar 21.

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