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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 …
Haematological abnormalities in Shwachman-Diamond syndrome.
Smith OP, Hann IM, Chessells JM, Reeves BR, Milla P. Smith OP, et al. Br J Haematol. 1996 Aug;94(2):279-84. doi: 10.1046/j.1365-2141.1996.d01-1788.x. Br J Haematol. 1996. PMID: 8759887
We have analysed the haematological parameters in 21 patients with Shwachman-Diamond syndrome (SDS) seen over a 25-year period at our institution. ...The data presented here suggest that this figure probably represents an underestimate. Shwachman-Di …
We have analysed the haematological parameters in 21 patients with Shwachman-Diamond syndrome (SDS) seen over a 25-year …
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.
Nakaya T, Kurata A, Hashimoto H, Nishimata S, Kashiwagi Y, Fujita K, Kawashima H, Kuroda M. Nakaya T, et al. Pathol Int. 2014 Feb;64(2):75-80. doi: 10.1111/pin.12133. Pathol Int. 2014. PMID: 24629175
Shwachman-Diamond syndrome, which is characterized by pancreatic fatty degeneration, skeletal growth retardation, and hematological dysfunction, is a congenital disease caused by SBDS gene mutations. ...The tumor was intermingled with two pathological changes …
Shwachman-Diamond syndrome, which is characterized by pancreatic fatty degeneration, skeletal growth retardation, and h …
A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.
Cesaro S, Pegoraro A, Sainati L, Lucidi V, Montemitro E, Corti P, Ramenghi U, Nasi C, Menna G, Zecca M, Danesino C, Nicolis E, Pasquali F, Perobelli S, Tridello G, Farruggia P, Cipolli M. Cesaro S, et al. J Pediatr. 2020 Apr;219:196-201.e1. doi: 10.1016/j.jpeds.2019.12.041. Epub 2020 Feb 6. J Pediatr. 2020. PMID: 32037152
OBJECTIVE: To describe the hematologic outcome and long-term survival of patients enrolled in the Shwachman-Diamond syndrome Italian Registry. STUDY DESIGN: A retrospective and prospective study of patients recorded in the Shwachman-Diamond s …
OBJECTIVE: To describe the hematologic outcome and long-term survival of patients enrolled in the Shwachman-Diamond syndrom …
Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.
Myers KC, Furutani E, Weller E, Siegele B, Galvin A, Arsenault V, Alter BP, Boulad F, Bueso-Ramos C, Burroughs L, Castillo P, Connelly J, Davies SM, DiNardo CD, Hanif I, Ho RH, Karras N, Manalang M, McReynolds LJ, Nakano TA, Nalepa G, Norkin M, Oberley MJ, Orgel E, Pastore YD, Rosenthal J, Walkovich K, Larson J, Malsch M, Elghetany MT, Fleming MD, Shimamura A. Myers KC, et al. Lancet Haematol. 2020 Mar;7(3):e238-e246. doi: 10.1016/S2352-3026(19)30206-6. Epub 2019 Dec 23. Lancet Haematol. 2020. PMID: 31879230 Free PMC article.
This study aimed to investigate the clinical features and outcomes of patients with myelodysplastic syndrome or acute myeloid leukaemia and Shwachman-Diamond syndrome, an inherited bone marrow failure disorder with high risk of developing myeloid malig …
This study aimed to investigate the clinical features and outcomes of patients with myelodysplastic syndrome or acute myeloid leukaem …
Telomere length in inherited bone marrow failure syndromes.
Alter BP, Giri N, Savage SA, Rosenberg PS. Alter BP, et al. Haematologica. 2015 Jan;100(1):49-54. doi: 10.3324/haematol.2014.114389. Epub 2014 Oct 10. Haematologica. 2015. PMID: 25304614 Free PMC article.
We compared telomere length in patients with Fanconi anemia, Diamond-Blackfan anemia and Shwachman-Diamond syndrome with telomere length in dyskeratosis congenita. ...However, Fanconi anemia, Diamond-Blackfan anemia and Shwachman-Diamo …
We compared telomere length in patients with Fanconi anemia, Diamond-Blackfan anemia and Shwachman-Diamond syndrome …
The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood.
Toiviainen-Salo S, Durie PR, Numminen K, Heikkilä P, Marttinen E, Savilahti E, Mäkitie O. Toiviainen-Salo S, et al. J Pediatr. 2009 Dec;155(6):807-811.e2. doi: 10.1016/j.jpeds.2009.06.047. Epub 2009 Aug 14. J Pediatr. 2009. PMID: 19683257
OBJECTIVES: In order to characterize the natural course of Shwachman-Diamond syndrome (SDS)-associated hepatopathy we evaluated liver biochemistry and imaging findings, and their evolution with age, in patients with SDS and verified SBDS mutations. ... …
OBJECTIVES: In order to characterize the natural course of Shwachman-Diamond syndrome (SDS)-associated hepatopat …
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.
Dror Y, Durie P, Ginzberg H, Herman R, Banerjee A, Champagne M, Shannon K, Malkin D, Freedman MH. Dror Y, et al. Exp Hematol. 2002 Jul;30(7):659-69. doi: 10.1016/s0301-472x(02)00815-9. Exp Hematol. 2002. PMID: 12135662 Free article.
OBJECTIVES: Shwachman-Diamond syndrome (SDS) is characterized by varying degrees of marrow failure. ...The study's aims were to determine the cellular and molecular characteristics as well as the clinical course of malignant myeloid transformation and …
OBJECTIVES: Shwachman-Diamond syndrome (SDS) is characterized by varying degrees of marrow failure. ...The study's aims …
The Shwachman-Diamond SBDS protein localizes to the nucleolus.
Austin KM, Leary RJ, Shimamura A. Austin KM, et al. Blood. 2005 Aug 15;106(4):1253-8. doi: 10.1182/blood-2005-02-0807. Epub 2005 Apr 28. Blood. 2005. PMID: 15860664 Free PMC article.
Shwachman-Diamond syndrome (SDS) is an autosomal recessively inherited disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. The gene for this syndrome, SBDS, encodes a highly conserved novel protein. We characterized …
Shwachman-Diamond syndrome (SDS) is an autosomal recessively inherited disorder characterized by exocrine pancreatic in …
Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.
Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Ben Barak A, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP. Tamary H, et al. Haematologica. 2010 Aug;95(8):1300-7. doi: 10.3324/haematol.2009.018119. Epub 2010 Apr 30. Haematologica. 2010. PMID: 20435624 Free PMC article.
We included patients with Fanconi anemia, severe congenital neutropenia, Diamond-Blackfan anemia, congenital amegakaryocytic thrombocytopenia, dyskeratosis congenita, Shwachman-Diamond syndrome, and thrombocytopenia with absent radii. ...Fifty-two perc …
We included patients with Fanconi anemia, severe congenital neutropenia, Diamond-Blackfan anemia, congenital amegakaryocytic thromboc …
29 results