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Items: 1 to 20 of 229

1.

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, Mason PJ, Bessler M, Link DC.

Blood. 2004 Dec 1;104(12):3588-90.

2.

Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.

Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, Kanno M, Noro M, Endoh M, Hama A, Tono C, Ito E, Tsuchiya S, Igarashi Y, Abukawa D, Hayasaka K.

Tohoku J Exp Med. 2005 Jul;206(3):253-9.

3.

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S.

Hum Genet. 2004 Mar;114(4):345-8.

PMID:
14749921
4.

Mutation analysis of SBDS in pediatric acute myeloblastic leukemia.

Majeed F, Jadko S, Freedman MH, Dror Y.

Pediatr Blood Cancer. 2005 Dec;45(7):920-4.

PMID:
16007594
5.

Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.

Taneichi H, Kanegane H, Futatani T, Otsubo K, Nomura K, Sato Y, Hama A, Kojima S, Kohdera U, Nakano T, Hori H, Kawashima H, Inoh Y, Kamizono J, Adachi N, Osugi Y, Mizuno H, Hotta N, Yoneyama H, Nakashima E, Ikegawa S, Miyawaki T.

Int J Hematol. 2006 Jul;84(1):60-2.

PMID:
16867904
6.

Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.

Toiviainen-Salo S, Raade M, Durie PR, Ip W, Marttinen E, Savilahti E, Mäkitie O.

J Pediatr. 2008 Mar;152(3):434-6. doi: 10.1016/j.jpeds.2007.12.013.

PMID:
18280855
7.

Hematologically important mutations: Shwachman-Diamond syndrome.

Costa E, Santos R.

Blood Cells Mol Dis. 2008 Mar-Apr;40(2):183-4.

PMID:
17916435
8.

Identification of novel mutations in patients with Shwachman-Diamond syndrome.

Nicolis E, Bonizzato A, Assael BM, Cipolli M.

Hum Mutat. 2005 Apr;25(4):410.

PMID:
15776428
9.
10.

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.

Erdos M, Alapi K, Balogh I, Oroszlán G, Rákóczi E, Sümegi J, Maródi L.

Exp Hematol. 2006 Nov;34(11):1517-21.

PMID:
17046571
11.

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ.

J Biol Chem. 2005 May 13;280(19):19221-9.

12.

Shwachman-Diamond syndrome.

Dror Y.

Pediatr Blood Cancer. 2005 Dec;45(7):892-901. Review.

PMID:
16047374
13.

Shwachman-Diamond syndrome.

Shimamura A.

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

PMID:
16822460
14.

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
15.

[Shwachman-Diamond syndrome--a diagnostic challenge].

Toiviainen-Salo S, Savilahti E, Mäkitie R, Mäkitie O.

Duodecim. 2010;126(14):1711-9. Finnish.

PMID:
20804090
16.

SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway.

Rujkijyanont P, Watanabe K, Ambekar C, Wang H, Schimmer A, Beyene J, Dror Y.

Haematologica. 2008 Mar;93(3):363-71. doi: 10.3324/haematol.11579.

17.

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.

PMID:
23305959
18.

SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?

Mellink CH, Alders M, van der Lelie H, Hennekam RH, Kuijpers TW.

Cancer Genet Cytogenet. 2004 Oct 15;154(2):144-9.

PMID:
15474150
19.

A zebrafish model for the Shwachman-Diamond syndrome (SDS).

Venkatasubramani N, Mayer AN.

Pediatr Res. 2008 Apr;63(4):348-52. doi: 10.1203/PDR.0b013e3181659736.

PMID:
18356737
20.

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.

PMID:
22213587

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