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| ==See also== | | ==See also== |
| * [[Cystic fibrosis]] | | * [[Cystic fibrosis]] |
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| ==References==
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| * {{cite journal | author= Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ | title=Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. | journal=J Biol Chem. | year=2005 | pages=19221-9 | volume=280 | issue=19 | id=PMID 15701631}}
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| * {{cite journal | author= Cesaro S, Oneto R, Messina C, Gibson BE, Buzyn A, Steward C, Gluckman E, Breddius R, Boogaerts M, Vermylen C, Veys P, Marsh J, Badell I, Michel G, Gungor T, Niethammer D, Bordigoni P, Oswald C, Favre C, Passweg J, Dini G | title=Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation. | journal=Br J Haematol | year=2005 | pages=231-6 | volume=31 | issue=2 | id=PMID 16197455}}
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| * {{cite journal | author=Donadieu J, Michel G, Merlin E, Bordigoni P, Monteux B, Beaupain B, Leverger G, Laporte JP, Hermine O, Buzyn A, Bertrand Y, Casanova JL, Leblanc T, Gluckman E, Fischer A, Stephan JL | title=Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry. | journal=Bone Marrow Transplant | year=2005 | pages=787-92 | volume=36 | issue=9 | id=PMID 16151425}}
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| * {{cite journal | author=Austin KM, Leary RJ, Shimamura A | title=The Shwachman-Diamond SBDS protein localizes to the nucleolus. | journal=Blood | year=2005 | pages=1253-8 | volume=106 | issue=4 | id=PMID 15860664}}
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| * {{cite journal | author=Makitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG | title=Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. | journal=Clin Genet | year=2004 | pages=101-12 | volume=65 | issue=2 | id=PMID 14984468}}
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| * {{cite journal | author=Boocock GRB, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM | title=Mutations in SBDS are associated with Shwachman-Diamond syndrome | journal=Nat Genet | year=2003 | pages=97-101 | volume=33 | issue=1 | id=PMID 12496757}}
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| * {{cite journal | author=Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, Boocock G, Durie PR, Rommens JM | title=Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. | journal=Eur J Hum Genet | year=2002 | pages=250-8 | volume=10 | issue=4 | id=PMID 12032733}}
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| * {{cite journal | author=Smith OP | title=Shwachman-Diamond syndrome. | journal=Semin Hematol | year=2002 | pages=95-102 | volume=39 | issue=2 | id=PMID 11957191}}
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| * {{cite journal | author=Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Betard C, Brewer CG, Roslin NM, Hudson TJ, Morgon K, Fujiwara TM, Durie PR, Rommens JM | title=Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. | journal=Am J Hum Genet | year=2001 | pages=1048-54 | volume=68 | issue=4 | id=PMID 11254457}}
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| * {{cite journal | author=Cipolli M | title=Shwachman-Diamond syndrome: clinical phenotypes. | journal=Pancreatology | year=2001 | pages=543-8 | volume=1 | issue=5 | id=PMID 12120235}}
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| * {{cite journal | author=Cipolli M, D'Orazio C, Delmarco A, Marchesini C, Miano A, Mastella G | title=Shwachman's syndrome: pathomorphosis and long-term outcome. | journal=J Pediatr Gastroenterol Nutr | year=1999 | pages=265-72 | volume=29 | issue=3 | id=PMID 10467990}}
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| * {{cite journal | author=Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR | title=Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. | journal=J Pediatr | year=1999 | pages=81-8 | volume=135 | issue=1 | id=PMID 10393609}}
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| * {{cite journal | author=Michels VV, Donovan GK | title=Shwachman syndrome: unusual presentation as asphyxiating thoracic dystrophy. | journal=Birth Defects Orig Artic Ser | year=1982 | pages=129-34 | volume=18 | issue=3B | id=PMID 7139093}}
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| * {{cite journal | author=Shwachman H, Diamond LK, Oski FA, Khaw KT | title=The syndrome of pancreatic insufficiency and bone marrow dysfunction. | journal=J Pediatr | year=1964 | pages=645-63 | volume=65 | id=PMID 14221166}}
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| * {{cite journal | author=Bodian M, Sheldon W, Lightwood R | title=Congenital hypoplasia of the exocrine pancreas. | journal=Acta Paediatr | year=1964 | pages=282-93 | volume=53 | id=PMID 14158482}}
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| ==External links== | | ==External links== |