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.
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
Woloszynek JR, Rothbaum RJ, Rawls AS, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004;104:3588-3590.
Rommens J. Genotype-phenotype correlations in SDS. Paper presented at the 3rd International Congress on Shwachman-Diamond Syndrome. Cambridge, 2005:18.
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study
Dror Y, Durie P, Ginzberg H, et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol. 2002;30:659-669.
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, et al. Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. Genes Chromosomes Cancer. 2006;45:375-382.
SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: No predisposition to malignant transformation?
Mellinck CHM, Alders M, van der Lelie H, et al. SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation? Cancer Genet Cytogenet. 2004;154:144-149.
Haematopoietic stem cell transplantation for Shwachman-Diamond disease: A study from the European Group for blood and marrow transplantation
Cesaro S, Oneto R, Messina C, et al. Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation. Br J Haematol. 2005;131:231-236.
Establishment and study of different real-time PCR assays for the quantification of cells with deletions of chromosome 7
Mattarucchi E, Marsoni M, Passi A, et al. Establishment and study of different real-time PCR assays for the quantification of cells with deletions of chromosome 7. J Mol Diagn. 2006;8:218-224.