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Year | Number of Results |
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2003 | 1 |
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Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Nat Genet. 2003 Jan;33(1):97-101. doi: 10.1038/ng1062. Epub 2002 Dec 23.
Nat Genet. 2003.
PMID: 12496757
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.
Kawakami T, et al.
Tohoku J Exp Med. 2005 Jul;206(3):253-9. doi: 10.1620/tjem.206.253.
Tohoku J Exp Med. 2005.
PMID: 15942154
Free article.
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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.
Myers KC, et al.
J Pediatr. 2014 Apr;164(4):866-70. doi: 10.1016/j.jpeds.2013.11.039. Epub 2013 Dec 31.
J Pediatr. 2014.
PMID: 24388329
Free PMC article.
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Shwachman-Diamond syndrome: diarrhea, no longer required?
Andolina JR, Morrison CB, Thompson AA, Chaudhury S, Mack AK, Proytcheva M, Corey SJ.
Andolina JR, et al.
J Pediatr Hematol Oncol. 2013 Aug;35(6):486-9. doi: 10.1097/MPH.0b013e3182667c13.
J Pediatr Hematol Oncol. 2013.
PMID: 22935661
Free PMC article.
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The Shwachman-Diamond SBDS protein localizes to the nucleolus.
Austin KM, Leary RJ, Shimamura A.
Austin KM, et al.
Blood. 2005 Aug 15;106(4):1253-8. doi: 10.1182/blood-2005-02-0807. Epub 2005 Apr 28.
Blood. 2005.
PMID: 15860664
Free PMC article.
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