المؤلفون: N. R. Akramov, I. V. Osipova, A. M. Zakirova, E. I. Khaertdinov, E. L. Rashitova, Н. Р. Акрамов, И. В. Осипова, А. М. Закирова, Э. И. Хаертдинов, Э. Л. Рашитова

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 64, № 6 (2019); 94-97 ; Российский вестник перинатологии и педиатрии; Том 64, № 6 (2019); 94-97 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2019-64-6

مصطلحات موضوعية: двусторонняя нефробластома, WT1 gene mutation, bilateral nephroblastoma, мутация гена WT1

وصف الملف: application/pdf

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Ann Oncol 2004; 15: 808–820. DOI:10.1093/annonc/mdh171; Denys P., Malvaux P., van den Berghe H., Tanghe W., Proesmans W. Association d’un syndrome anatomo-pathologique de pseudohermaphrodisme masculin, d’une tumeur de Wilms, d’une nephropathie parenchymateuse et d’un mosaicisme XX/XY. Arch Franc Pediat 1967; 24: 729–739.; Drash A., Sherman F., Hartmann W.H., Blizzard R.M. A syndrome of pseudohermaphroditism, Wilms’ tumor, hypertension, and degenerative renal disease. J Pediat 1970; 76: 585– 593. DOI:10.1016/s0022-3476(70)80409-7; Frasier S.D., Bashore R.A., Mosier H.D. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediat 1964; 64: 740-745. DOI: 10/1016/s0022-2476(64)80622-3; Miller R.W., Fraumeni J.F.Jr., Manning M.D. Association of Wilms’ tumor with aniridia, hemihypertrophy and other congenital malformations. New Eng J Med 1964; 270: 922–927. DOI:10.1056/NEJM196404302701802; Bruening W., Bardeesy N., Silverman B.L., Cohn R.A., Machin G.A., Aronson A.J. et al. Germline intronic and exonic mutations in the Wilms’ tumour gene (WT1) affecting urogenital development. Nat Genet 1992; 1(2): 144–148. DOI:10.1038/ng0592-144; Auber F., Lortat-Jacob S., Sarnacki S., Jaubert F., Salomon R., Thibaud E. et al. Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes). J Pediatr Surg 2003; 38(1): 124–129. DOI:10.1053/jpsu.2003.50025; Takata A., Kikuchi H., Fukuzawa R., Ito S., Honda M., Hata J. Constitutional WT1 correlate with clinical features in children with progressive nephropathy. J Med Genet 2000; 37(9): 698–701. DOI:10.1136/jmg.37.9.698; da Silva T.E., Nishi M.Y., Costa E.M., Martin R.M., Carvalho F.M., Mendonca B.B., Domenice S. A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome. Pediatr Nephrol 2011; 26(8): 1311–1315. DOI:10.1007/s00467-011-1847-4; Fukuzawa R., Sakamoto J., Heathcott R.W., Hata J.I. A necropsy case of Denys–Drash syndrome with a WT1 mutation in exon 7. J Med Genet 2002; 39(8):e48. DOI:10.1136/jmg.39.8.e48; Jeanpierre C., Béroud C., Niaudet P., Junien C. Software and database for the analysis of mutations in the human WT1 gene. Nucleic Acids Res 1998; 26(1): 271–274. DOI:10.1093/nar/26.1.271; Little M., Wells C. A clinical overview of WT1 gene mutations. Hum Mutat 1997; 9(3): 209–225. DOI:10.1002/(SICI)1098-1004(1997)9:33.0.CO;2-2; Bardeesy N., Zabel B., Schmitt K., Pelletier J. WT1 mutations associated with incomplete Denys–Drash syndrome define a domain predicted to behave in a dominant-negative fashion. Genomics 1994; 21(3): 663–664. 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الاتاحة: https://www.ped-perinatology.ru/jour/article/view/1025
https://doi.org/10.21508/1027-4065-2019-64-6-94-97

المؤلفون: N. R. Akramov, I. V. Osipova, A. M. Zakirova, E. I. Khaertdinov, E. L. Rashitova

المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 64, Iss 6, Pp 94-97 (2020)

مصطلحات موضوعية: дети, мутация гена wt1, двусторонняя нефробластома, Pediatrics, RJ1-570

Relation: https://www.ped-perinatology.ru/jour/article/view/1025; https://doaj.org/toc/1027-4065; https://doaj.org/toc/2500-2228; https://doaj.org/article/3161f0fd018f42959034ea4ef3e5cf18

الاتاحة: https://doi.org/10.21508/1027-4065-2019-64-6-94-97
https://doaj.org/article/3161f0fd018f42959034ea4ef3e5cf18