Εμφανίζονται 1 - 20 Αποτελέσματα από 41 για την αναζήτηση '"нарушение интеллектуального развития"', χρόνος αναζήτησης: 0,62δλ Περιορισμός αποτελεσμάτων
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    Academic Journal

    Συνεισφορές: The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported, Авторы данной статьи подтвердили отсутствие конфликта интересов и финансовой поддержки, о которых необходимо сообщить

    Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 4 (2024); 85-89 ; Российский вестник перинатологии и педиатрии; Том 69, № 4 (2024); 85-89 ; 2500-2228 ; 1027-4065

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    Relation: https://www.ped-perinatology.ru/jour/article/view/2033/1517; Parenti I., Lehalle D., Nava C., Torti E., Leitão E., Person R. et al. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Hum Genet 2021; 140(7): 1109–1120. DOI:10.1007/s00439–021–02283–2; Woodage T., Basrai M.A., Baxevanis A.D., Hieter P., Collins F.S. Characterization of the CHD family of proteins. Proc Natl Acad Sci USA 1997; 94(21): 11472–11477. DOI:10.1073/pnas.94.21.11472; Thompson P.M., Gotoh T., Kok M., White P.S., Brodeur G.M. CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system. Oncogene 2003; 22(7): 1002–1011. DOI:10.1038/sj.onc.1206211; Pier son T.M., Otero M.G., Grand K., Choi A., Graham J.M. Jr, Young J.I., Mackay J.P. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Am J Med Genet C Semin Med Genet 2019; 181(4): 548–556. DOI:10.1002/ajmg.c.31752; Shrestha P., Jaganathan A., Huilgol D., Ballon C., Hwangbo Y., Mills A.A. Chd5 Regulates the Transcription Factor Six3 to Promote Neuronal Differentiation. Stem Cells 2023; 41(3): 242–251. DOI:10.1093/stmcls/sxad002; Bagchi A., Papazoglu C., Wu Y., Capurso D., Brodt M., Francis D. et al. CHD5 is a tumor suppressor at human 1p36. Cell 2007; 128(3): 459–475. DOI:10.1016/j.cell.2006.11.052; Kolla V., Zhuang T., Higashi M., Naraparaju K., Brodeur G.M. Role of CHD5 in human cancers: 10 years later. Cancer Res 2014; 74(3): 652–658. DOI:10.1158/0008–5472.CAN-13–3056; Shimada S., Shimojima K., Okamoto N., Sangu N., Hirasawa K., Matsuo M. et al. Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. Brain Dev 2015; 37(5): 515–526. DOI:10.1016/j.braindev.2014.08.002; Jacquin C., Landais E., Poirsier C., Afenjar A., Akhavi A., Bednarek N. et al. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Am J Med Genet A 2023; 191(2): 445–458. DOI:10.1002/ajmg.a.63041; Heilstedt H.A, Ballif B.C., Howard L.A., Kashork C.D., Shaffer L.G. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. Am J Med Genet A 2023; 191(2): 445–458. DOI:10.1002/ajmg.a.63041; Battaglia A., Hoyme H.E., Dallapiccola B., Zackai E., Hudgins L., McDonald-McGinn D. et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation [published correction appears in Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L]]. Pediatrics 2008; 121(2): 404–410. DOI:10.1542/peds.2007–0929; Bishop B., Ho K.K., Tyler K., Smith A., Bonilla S., Leung Y.F., Ogas J. The chromatin remodeler chd5 is necessary for proper head development during embryogenesis of Danio rerio. Biochim Biophys Acta 2015; 1849(8): 1040–1050. DOI:10.1016/j.bbagrm.2015.06.006; Nagamani S.C., Erez A., Probst F.J., Bader P., Evans P., Baker L.A. et al. Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. Neurogenetics 2012; 13(4): 333–339. DOI:10.1007/s10048–012–0340-y

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    Academic Journal

    Συγγραφείς: Гончарук, Н. М.

    Πηγή: Psychology and Social Work; No. 1(53) (2021); 43-58 ; Психология и социальная работа; № 1(53) (2021); 43-58 ; Психологія та соціальна робота; № 1(53) (2021); 43-58 ; 2707-0417 ; 2707-0409

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    Dissertation/ Thesis
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