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Quoted phrase not found in phrase index: "Shwachman-Diamond syndrome 2"
Page 1
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.
Therefore, genetic mutations may predict clinical outcomes after allogeneic hematopoietic stem-cell transplantation. ...In young adults, 4% of the patients had compound heterozygous mutations in the Shwachman-Diamond syndrome-associated SBDS gene with …
Therefore, genetic mutations may predict clinical outcomes after allogeneic hematopoietic stem-cell transplantation. ...In young adul …
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) …
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. ...The group of girls also showed significantly lower …
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancre …
Growth hormone improves short stature 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. Pediatr Endocrinol Diabetes Metab. 2021;27(2):87-92. doi: 10.5114/pedm.2021.105298. Pediatr Endocrinol Diabetes Metab. 2021. PMID: 33878854 Free PMC article.
INTRODUCTION: Shwachman-Diamond syndrome (SDS) is a rare, autosomal recessive multisystemic disorder characterized by pancreatic insufficiency and bone marrow failure. ...The annual growth velocity (GV) and height standard deviation score (SD) were com …
INTRODUCTION: Shwachman-Diamond syndrome (SDS) is a rare, autosomal recessive multisystemic disorder characterized by p …
Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT).
Cesaro S, Pillon M, Sauer M, Smiers F, Faraci M, de Heredia CD, Wynn R, Greil J, Locatelli F, Veys P, Uyttebroeck A, Ljungman P, Chevalier P, Ansari M, Badell I, Güngör T, Salim R, Tischer J, Tecchio C, Russell N, Chybicka A, Styczynski J, Krivan G, Smith O, Stein J, Afanasyev B, Pochon C, Menconi MC, Bosman P, Mauro M, Tridello G, de Latour RP, Dufour C. Cesaro S, et al. Bone Marrow Transplant. 2020 Sep;55(9):1796-1809. doi: 10.1038/s41409-020-0863-z. Epub 2020 Mar 19. Bone Marrow Transplant. 2020. PMID: 32203264 Review.
Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative procedure in patients with Shwachman-Diamond syndrome (SDS) with bone marrow abnormalities. The results of 74 patients with SDS (6 acute myeloid leukemia, 7 myelodysplastic syndrome …
Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative procedure in patients with Shwachman-Diamond syndro …
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.
Mäkitie O, Ellis L, Durie PR, Morrison JA, Sochett EB, Rommens JM, Cole WG. Mäkitie O, et al. Clin Genet. 2004 Feb;65(2):101-12. doi: 10.1111/j.0009-9163.2004.00198.x. Clin Genet. 2004. PMID: 14984468
Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman-Diamond syndrome (SDS) whereas the associated skeletal dysplasia is variable and not consistently observed. ...The results suggest that the characteri …
Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman-Diamond syndrome …
Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias.
Freedman MH, Alter BP. Freedman MH, et al. Semin Hematol. 2002 Apr;39(2):128-33. doi: 10.1053/shem.2002.31912. Semin Hematol. 2002. PMID: 11957196 Review.
Almost all patients respond to G-CSF with increased neutrophils, reduced infections, and improved survival. Some responders with congenital neutropenia and Shwachman-Diamond syndrome (SDS) have developed myelodysplastic syndrome and acute myeloid leuke …
Almost all patients respond to G-CSF with increased neutrophils, reduced infections, and improved survival. Some responders with congenital …
Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.
Toiviainen-Salo S, Mäyränpää MK, Durie PR, Richards N, Grynpas M, Ellis L, Ikegawa S, Cole WG, Rommens J, Marttinen E, Savilahti E, Mäkitie O. Toiviainen-Salo S, et al. Bone. 2007 Dec;41(6):965-72. doi: 10.1016/j.bone.2007.08.035. Epub 2007 Sep 5. Bone. 2007. PMID: 17920346
INTRODUCTION: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and bone marrow dysfunction. ...RESULTS: The main findings were: (1) markedly reduced BMD Z-scores at the lumbar spine …
INTRODUCTION: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic …
Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?
Wang NW, Georgara N, Khan HS. Wang NW, et al. J Pediatr Hematol Oncol. 2022 Aug 1;44(6):345-346. doi: 10.1097/MPH.0000000000002469. Epub 2022 Apr 26. J Pediatr Hematol Oncol. 2022. PMID: 35482443
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. ...We present a case of an infant presenting with SDS and left-sided ptosis. OBSERVATION: We report a cas …
BACKGROUND: Shwachman-Diamond syndrome (SDS) is a multisystem disorder characterized by exocrine pancreatic insufficien …
Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, Kanno M, Noro M, Endoh M, Hama A, Tono C, Ito E, Tsuchiya S, Igarashi Y, Abukawa D, Hayasaka K. Kawakami T, et al. Tohoku J Exp Med. 2005 Jul;206(3):253-9. doi: 10.1620/tjem.206.253. Tohoku J Exp Med. 2005. PMID: 15942154 Free article.
Shwachman-Diamond syndrome (SDS) is a rare hereditary disorder characterized by pancreatic exocrine insufficiency, bone marrow dysfunction and skeletal changes. Recently, the cause of SDS was identified as mutations of Shwachman-Bodian-Diamond …
Shwachman-Diamond syndrome (SDS) is a rare hereditary disorder characterized by pancreatic exocrine insufficiency, bone …
27 results