Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway
Dror Y, Freedman MH. Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. Blood 2001; 97:3011-3016.
A detailed physical and transcriptional map of the region of chromosome 20 that is deleted in myeloproliferative disorders and refinement of the common deleted region
Bench AJ, Aldred MA, Humphray SJ, et al. A detailed physical and transcriptional map of the region of chromosome 20 that is deleted in myeloproliferative disorders and refinement of the common deleted region. Genomics 1998;49: 351-362.
Cytogenetic characterization of acute myeloid leukemia in Shwachman's syndrome: A case report
Spirito FR, Crescenzi B, Matteucci C, et al. Cytogenetic characterization of acute myeloid leukemia in Shwachman's syndrome: a case report. Haematologica 2000;85:1207-1210.
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7
Goobie S, Popovic M, Morrison J, et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet 2001;68:1048-1054.
Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders
Minelli A, Maserati E, Olivieri C, et al. Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders. Cancer Genet Cytogenet 2000;121:167-171.
Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome without evidence of myelodysplastic syndrome of acute myelogenous leukemia
Sokolic RA, Ferguson W, Mark HF. Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome without evidence of myelodysplastic syndrome of acute myelogenous leukemia. Cancer Genet Cytogenet 1999;115:106-113.