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Did you mean shwachman diamond syndrome (592 results)?
Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
Reilly CR, Shimamura A. Reilly CR, et al. Blood. 2023 Mar 30;141(13):1513-1523. doi: 10.1182/blood.2022017739. Blood. 2023. PMID: 36542827 Free PMC article. Review.
Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to myeloid malignancies. ...
Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy characterized by exocrine pancreatic deficiency, bone marr …
Leukemia.
Chennamadhavuni A, Lyengar V, Mukkamalla SKR, Shimanovsky A. Chennamadhavuni A, et al. 2023 Jan 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jan 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32809325 Free Books & Documents.
Many genetic risk factors have been identified, such as Klinefelter and Down syndromes, ataxia telangiectasia, Bloom syndrome, and telomeropathies such as Fanconi anemia, dyskeratosis congenita, and Shwachman-Diamond syndrome; germline mutations in RUNX1, CEB …
Many genetic risk factors have been identified, such as Klinefelter and Down syndromes, ataxia telangiectasia, Bloom syndrome, …
Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.
Lindsley RC, Saber W, Mar BG, Redd R, Wang T, Haagenson MD, Grauman PV, Hu ZH, Spellman SR, Lee SJ, Verneris MR, Hsu K, Fleischhauer K, Cutler C, Antin JH, Neuberg D, Ebert BL. Lindsley RC, et al. N Engl J Med. 2017 Feb 9;376(6):536-547. doi: 10.1056/NEJMoa1611604. N Engl J Med. 2017. PMID: 28177873 Free PMC article.
BACKGROUND: Genetic mutations drive the pathogenesis of the myelodysplastic syndrome (MDS) and are closely associated with clinical phenotype. ...In young adults, 4% of the patients had compound heterozygous mutations in the Shwachman-Diamond syndrome-associated SBD …
BACKGROUND: Genetic mutations drive the pathogenesis of the myelodysplastic syndrome (MDS) and are closely associated with clinical p …
Shwachman-Diamond Syndrome.
Farooqui SM, Ward R, Aziz M. Farooqui SM, et al. 2023 Jul 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Jul 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 29939643 Free Books & Documents.
Schwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that is the second most common cause of exocrine pancreatic insufficiency after cystic fibrosis. ...However, cardiac abnormalities, immune dysfunction, and hematologic disorders are also reported. A mutat …
Schwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that is the second most common cause of exocrine pancreatic insu …
Shwachman-Diamond Syndrome.
Nelson A, Myers K. Nelson A, et al. 2008 Jul 17 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Jul 17 [updated 2018 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301722 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia s …
CLINICAL CHARACTERISTICS: Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, m …
Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P. Dall'oca C, et al. Musculoskelet Surg. 2012 Aug;96(2):81-8. doi: 10.1007/s12306-011-0174-z. Epub 2011 Dec 27. Musculoskelet Surg. 2012. PMID: 22201042 Review.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. ...Bone marrow biopsy usually reveals a hypoplastic specimen with varying degrees of hypoplasia and fat infiltrat …
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure a …
Inherited bone marrow failure in the pediatric patient.
Dokal I, Tummala H, Vulliamy T. Dokal I, et al. Blood. 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481. Blood. 2022. PMID: 35605178 Free PMC article.
Inherited bone marrow (BM) failure syndromes are a diverse group of disorders characterized by BM failure, usually in association with 1 extrahematopoietic abnormalities. ...Furthermore, some children initially labeled as having idiopathic aplastic anemia or myelodysplasia …
Inherited bone marrow (BM) failure syndromes are a diverse group of disorders characterized by BM failure, usually in association wit …
Shwachman-Diamond syndrome.
Dror Y. Dror Y. Pediatr Blood Cancer. 2005 Dec;45(7):892-901. doi: 10.1002/pbc.20478. Pediatr Blood Cancer. 2005. PMID: 16047374 Review.
Shwachman-Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphyseal dysostosis. ...We also review the diagnostic and therapeutic approaches to the hematological complications in the syndrome....
Shwachman-Diamond syndrome (SDS) is an inherited marrow failure disorder with varying cytopenia, pancreatic dysfunction, and metaphys …
Shwachman-diamond syndrome.
Dror Y, Freedman MH. Dror Y, et al. Br J Haematol. 2002 Sep;118(3):701-13. doi: 10.1046/j.1365-2141.2002.03585.x. Br J Haematol. 2002. PMID: 12181037 Free article. Review. No abstract available.
Shwachman-Diamond syndrome.
Smith OP. Smith OP. Semin Hematol. 2002 Apr;39(2):95-102. doi: 10.1053/shem.2002.31915. Semin Hematol. 2002. PMID: 11957191 Review.
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, short stature, and bone marrow dysfunction. ...Hematological manifestations othe …
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infa …
498 results