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    Academic Journal
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    Academic Journal

    Πηγή: Hospital Surgery. Journal named by L.Ya. Kovalchuk; No. 4 (2021); 65-71 ; Госпитальная хирургия. Журнал имени Л.А. Ковальчука; № 4 (2021); 65-71 ; Шпитальна хірургія. Журнал імені Л. Я. Ковальчука; № 4 (2021); 65-71 ; 2414-4533 ; 1681-2778 ; 10.11603/2414-4533.2021.4

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    Academic Journal
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    Academic Journal

    Συνεισφορές: Not specified, Не указан

    Πηγή: Current Pediatrics; Том 18, № 5 (2019); 393-400 ; Вопросы современной педиатрии; Том 18, № 5 (2019); 393-400 ; 1682-5535 ; 1682-5527

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    Relation: https://vsp.spr-journal.ru/jour/article/view/2239/901; Shwachman H, Diamond LK, Oski FA, Khaw KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr. 1964;65:645-663. doi:10.1016/s0022-3476(64)80150-5.; Goobie S, Popovic M, Morrison J, et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet. 2001;68(4):1048-1054. doi:10.1086/319505.; Boocock GR, Morrison JA, Popovic M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33(1):97-101. doi:10.1038/ng1062.; Woloszynek JR, Rothbaum RJ, Rawls AS, et al. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. Blood. 2004;104(12):3588-3590. doi:10.1182/blood-2004-04-1516.; Donadieu J, Fenneteau O, Beaupain B, et al.; Associated investigators of the French Severe Chronic Neutropenia Registry. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica. 2012;97(9):1312-9131. doi:10.3324/haematol.2011.057489.; Nicolis E, Bonizzato A, Assael BM, Cipolli M. Identification of novel mutations in patients with Shwachman-Diamond syndrome. Hum Mutat. 2005;25(4):410. doi:10.1002/humu.9324.; Nakashima E, Mabuchi A, Makita Y, et al. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet. 2004;114(4):345-348. doi:10.1007/s00439-004-1081-2.; Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009;23(2):233-248. doi:10.1016/j.hoc.2009.01.007.; Dror Y, Donadieu J, Koglmeier J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N YAcad Sci. 2011;1242:40-55. doi:10.1111/j.1749-6632.2011.06349.x.; Austin KM, Leary RJ, Shimamura A. The Shwachman-Diamond SBDS protein localizes to the nucleolus. Blood. 2005;106(4): 1253-1258. doi:10.1182/blood-2005-02-0807.; Lesesve JF, Dugue F, Gregoire MJ, et al. Shwachman-Diamond syndrome with late-onset neutropenia and fatal acute myeloid leukaemia without maturation: a case report. Eur J Haematol. 2003; 71(5):393-395. doi:10.1034/j.1600-0609.2003.00146.x.; Dror Y, Durie P Ginzberg H, et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol. 2002;30(7):659-669. doi:10.1016/s0301-472x(02)00815-9.; Makitie O, Ellis L, Durie PR, et al. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet. 2004;65(2):101-112. doi:10.1111/j.0009-9163.2004.00198.x.; Aggett PJ, Cavanagh NP Matthew DJ, et al. Shwachman's syndrome. A review of 21 cases. Arch Dis Child. 1980;55(5):331-347. doi:10.1136/adc.55.5.331; Ипатова М.Г., Шумилов П.В., Блох С.П., и др. Особенности экзокринной и эндокринной функций поджелудочной железы у детей с синдромом Швахмана-Даймонда // Педиатрия. Журн. им. Г.Н. Сперанского. — 2017. — Т. 96. — № 6. — С. 48-52. doi:10.24110/0031-403X-2017-96-6-48-52.; Kuijpers TW, Nannenberg E, Alders M, et al. Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. Pediatrics. 2004;114(3): e387-391. doi:10.1542/peds.2003-0651-F.; Barrios N, Kirkpatrick D, Regueira O, et al. Bone marrow transplant in Shwachman Diamond syndrome. Br J Haematol. 1991; 79(2):337-338. doi:10.1111/j.1365-2141.1991.tb04545.x; Smith OP, Hann IM, Chessells JM, et al. Haematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol. 1996;94(2):279-284. doi:10.1046/j.1365-2141.1996.d01-1788.x; Dror Y, Squire J, Durie P Freedman MH. Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome. Leukemia. 1998;12(10):1591-1595. doi:10.1038/sj.leu.2401147; Passmore SJ, Hann IM, Stiller CA, et al. Pediatric myelodysplasia: a study of 68 children and a new prognostic scoring system. Blood. 1995;85(7):1742-1750. doi:10.1182/blood.v85.7.1742.blood-journal8571742; Ипатова М.Г., Куцев С.И., Шумилов П.В., и др. Краткие клинические рекомендации по ведению больных с синдромом Швахмана-Даймонда // Педиатрия. Журн. им. Г.Н. Сперанского. — 2016. — Т. 95. — № 6. — С. 181-186.; Kuijpers TW, Alders M, Tool AT, et al. Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. Blood. 2005;106(1):356-361. doi:10.1182/blood-2004-11-4371.; Finch AJ, Hilcenko C, Basse N, et al. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011;25(9):917-929. doi:10.1101/gad.623011.

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