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Items: 1 to 20 of 120

1.

Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis.

Rosendahl J, Teich N, Mossner J, Edelmann J, Koch CA.

Pancreatology. 2006;6(6):549-54. Epub 2006 Nov 10.

PMID:
17106217
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. Epub 2004 Jan 29.

PMID:
14749921
4.

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. Epub 2004 Jul 29.

5.

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
6.

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.

Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S.

J Med Genet. 2007 Apr;44(4):e73.

7.

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
8.

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
9.

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
10.

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. Epub 2002 Dec 23.

PMID:
12496757
11.

Hematologically important mutations: Shwachman-Diamond syndrome.

Costa E, Santos R.

Blood Cells Mol Dis. 2008 Mar-Apr;40(2):183-4. Epub 2007 Oct 4.

PMID:
17916435
12.

[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
13.

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
14.

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.

15.

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

Mäkitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG.

Clin Genet. 2004 Feb;65(2):101-12.

PMID:
14984468
16.

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
17.

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
18.

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
19.

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. Epub 2005 Feb 8.

20.

Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.

Khan S, Hinks J, Shorto J, Schwarz MJ, Sewell WA.

Clin Exp Immunol. 2008 Mar;151(3):448-54. doi: 10.1111/j.1365-2249.2007.03556.x. Epub 2008 Jan 10. Review.

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