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   SBDSbase
   Variation registry for  Shwachman-Diamond syndrome


SBDSbase mutation publications

[2009] [2008] [2007] [2006] [2005] [2004] [2003] [ ]

Search PubMed latest citations for SBDS mutations

    2009

  • A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
    Newman AR, Moghaddam B, Yoon JM
    J Pediatr Hematol Oncol 2009(11): 847-9 [PubMed abstract].

    2008

  • 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(3): 434-6 [PubMed abstract].

  • Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.
    Toiviainen-Salo S, Mäkitie O, Mannerkoski M, Hämäläinen J, Valanne L, Autti T
    Am J Med Genet A 2008(12): 1558-64 [PubMed abstract].

  • 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(3): 448-54 [PubMed abstract].

    2007

  • 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(4): e73 [PubMed abstract].

  • Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.
    Toiviainen-Salo S, Mäyränpää MK, Durie PR, Richards N, Grynpas M, Ellis L, Ikegawa S, Cole WG, Rommens J, Marttinen E, Savilahti E, Mäkitie O
    Bone 2007(6): 965-72 [PubMed abstract].

  • Mutations in the SBDS gene in acquired aplastic anemia.
    Calado RT, Graf SA, Wilkerson KL, Kajigaya S, Ancliff PJ, Dror Y, Chanock SJ, Lansdorp PM, Young NS
    Blood 2007(4): 1141-6 [PubMed abstract].

    2006

  • Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies.
    Maserati E, Minelli A, Pressato B, Valli R, Crescenzi B, Stefanelli M, Menna G, Sainati L, Poli F, Panarello C, Zecca M, Curto FL, Mecucci C, Danesino C, Pasquali F
    Genes Chromosomes Cancer 2006(4): 375-82 [PubMed abstract].

  • 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(1): 60-2 [PubMed abstract].

  • 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(11): 1517-21 [PubMed abstract].

    2005

  • Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.
    Kuijpers TW, Alders M, Tool AT, Mellink C, Roos D, Hennekam RC
    Blood 2005(1): 356-61 [PubMed abstract].

  • 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(3): 253-9 [PubMed abstract].

  • 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(19): 19221-9 [PubMed abstract].

  • Identification of novel mutations in patients with Shwachman-Diamond syndrome.
    Nicolis E, Bonizzato A, Assael BM, Cipolli M
    Hum Mutat 2005(4): 410 [PubMed abstract].

  • Mutation analysis of SBDS in pediatric acute myeloblastic leukemia.
    Majeed F, Jadko S, Freedman MH, Dror Y
    Pediatr Blood Cancer 2005(7): 920-4 [PubMed abstract].

    2004

  • 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(2): 101-12 [PubMed abstract].

  • 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(12): 3588-90 [PubMed abstract].

  • Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
    Kuijpers TW, Nannenberg E, Alders M, Bredius R, Hennekam RC
    Pediatrics 2004(3): e387-91 [PubMed abstract].

  • 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(4): 345-8 [PubMed abstract].

    2003

  • 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(1): 97-101 [PubMed abstract].

  • Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.
    Costa E, Duque F, Oliveira J, Garcia P, Gonçalves I, Diogo L, Santos R
    Blood Cells Mol Dis (1): 96-101 [PubMed abstract].