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Items: 1 to 20 of 1100

1.

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.

2.

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.

3.

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
4.

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
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.

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
7.

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
8.

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
9.

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
10.

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
11.

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.

12.

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
13.

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
14.

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.

15.

[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
16.

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

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

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

PMID:
20804090
17.

Shwachman-Diamond syndrome.

Dror Y.

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

PMID:
16047374
18.

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.

Hum Mutat. 2004 Oct;24(4):312-20.

PMID:
15365988
19.

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
20.

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

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