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Quoted phrase not found in phrase index: "Shwachman-Diamond syndrome 2"
Page 1
Hereditary myeloid malignancies.
Rafei H, DiNardo CD. Rafei H, et al. Best Pract Res Clin Haematol. 2019 Jun;32(2):163-176. doi: 10.1016/j.beha.2019.05.001. Epub 2019 May 3. Best Pract Res Clin Haematol. 2019. PMID: 31203998 Free PMC article. Review.
Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased risk of various malignancies including myelodysplasia and acute myeloid leukemia such as Li-Fraumeni syndrome and constitutional mis …
Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased …
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ. Thompson AS, et al. Pediatr Res. 2022 Dec;92(6):1671-1680. doi: 10.1038/s41390-022-02009-8. Epub 2022 Mar 23. Pediatr Res. 2022. PMID: 35322185 Free PMC article. Review.
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. ...CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov Identifie …
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) …
Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Bezzerri V, Cipolli M. Bezzerri V, et al. Mol Diagn Ther. 2019 Apr;23(2):281-290. doi: 10.1007/s40291-018-0368-2. Mol Diagn Ther. 2019. PMID: 30413969 Review.
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. ...Almost 15-20% of patients with SDS present myelodysplastic syndrome with a high risk o …
Shwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian- …
Endocrine dysfunction in children with Shwachman-Diamond syndrome.
Bogusz-Wójcik A, Kołodziejczyk H, Moszczyńska E, Klaudel-Dreszler M, Oracz G, Pawłowska J, Szalecki M. Bogusz-Wójcik A, et al. Endokrynol Pol. 2021;72(3):211-216. doi: 10.5603/EP.a2021.0014. Epub 2021 Feb 23. Endokrynol Pol. 2021. PMID: 33619711 Free article.
INTRODUCTION: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocrine insufficiency, immune deficiency, bone marrow failure, and bone malformations. ...The group of boys presented with a significantly lower …
INTRODUCTION: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocr …
Somatic development in children with Shwachman-Diamond syndrome.
Bogusz-Wójcik A, Kołodziejczyk H, Klaudel-Dreszler M, Oracz G, Pawłowska J, Szalecki M. Bogusz-Wójcik A, et al. Ital J Pediatr. 2020 Oct 12;46(1):151. doi: 10.1186/s13052-020-00919-z. Ital J Pediatr. 2020. PMID: 33046118 Free PMC article.
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. ...METHODS: An analysis of anthropometric measurement …
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancre …
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.
Burroughs L, Woolfrey A, Shimamura A. Burroughs L, et al. Hematol Oncol Clin North Am. 2009 Apr;23(2):233-48. doi: 10.1016/j.hoc.2009.01.007. Hematol Oncol Clin North Am. 2009. PMID: 19327581 Free PMC article. Review.
Shwachman-Diamond syndrome is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insufficiency, impaired hematopoiesis, and leukemia predisposition. ...This article focuses on the clinical presentation, diagnostic work-up, cl …
Shwachman-Diamond syndrome is a rare autosomal-recessive, multisystem disease characterized by exocrine pancreatic insu …
Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome.
Peng X, Dong X, Wang Y, Wu B, Wang H, Lu W, Xiao F, Yang L, Li G, Zhou W, Liu B, Lu Y. Peng X, et al. J Mol Diagn. 2022 Dec;24(12):1240-1253. doi: 10.1016/j.jmoldx.2022.09.002. Epub 2022 Sep 24. J Mol Diagn. 2022. PMID: 36162759 Free article.
Shwachman-Diamond syndrome (SDS) is the second most common cause of exocrine pancreatic insufficiency, and 90% of patients carry mutations in the SBDS gene, the most common being the c.183_184delinsCT and c.258+2T>C variants. ...For overall variant detecti …
Shwachman-Diamond syndrome (SDS) is the second most common cause of exocrine pancreatic insufficiency, and 90% of patie …
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Babushok DV, Bessler M. Babushok DV, et al. Best Pract Res Clin Haematol. 2015 Mar;28(1):55-68. doi: 10.1016/j.beha.2014.11.004. Epub 2014 Nov 12. Best Pract Res Clin Haematol. 2015. PMID: 25659730 Free PMC article. Review.
Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review clinical scenarios when genetic predisposition should be considered, and will provide a practical overview of the common BMFS and familial MDS/ …
Here, we will discuss the importance of recognizing an underlying genetic predisposition syndrome a patient with MDS, will review cli …
The histopathology of bone marrow failure in children.
Iwafuchi H. Iwafuchi H. J Clin Exp Hematop. 2018;58(2):68-86. doi: 10.3960/jslrt.18018. J Clin Exp Hematop. 2018. PMID: 29998978 Free PMC article. Review.
This review provides a detailed description of the BM histopathology in cases of RCC, AA, and the four most common IBMF syndromes: Fanconi anemia (FA), dysketatosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS). .. …
This review provides a detailed description of the BM histopathology in cases of RCC, AA, and the four most common IBMF syndromes: Fanconi a …
Nutritional status in children with Shwachman-diamond syndrome.
Pichler J, Meyer R, Köglmeier J, Ancliff P, Shah N. Pichler J, et al. Pancreas. 2015 May;44(4):590-5. doi: 10.1097/MPA.0000000000000291. Pancreas. 2015. PMID: 25742431
OBJECTIVE: In Shwachman-Diamond syndrome (SDS), pancreatic insufficiency can lead to malabsorption of fat-soluble vitamins and trace elements. ...Eleven patients (52%) were on multivitamin supplementation, and 2 (10%) on zinc and selenium supplements. …
OBJECTIVE: In Shwachman-Diamond syndrome (SDS), pancreatic insufficiency can lead to malabsorption of fat-soluble vitam …
57 results