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1Book
Contributors: Ефременко, И. И.
Subject Terms: наследственные болезни, пренатальная диагностика, хромосомные болезни, врожденные пороки развития, изменчивость, медицинская генетика, генетика человека, наследственность, генные болезни, медико-генетическое консультирование
File Description: application/pdf
Access URL: https://rep.vsu.by/handle/123456789/48115
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2Academic Journal
Authors: А. К. , Курбанов
Source: World of Medicine : Journal of Biomedical Sciences; Vol. 2 No. 2 (2025): World of Medicine : Journal of Biomedical Sciences; 1-3 ; 2960-9356
Subject Terms: цитогенетика, кариотип, флуоресцентную ин ситу гибридизацию (FISH), полиморфизм ДНК, хромосомные болезни, диагностика
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3Academic Journal
Authors: Elena A. Tkachuk, Igor Zh. Seminsky
Source: Байкальский медицинский журнал, Vol 2, Iss 2, Pp 77-86 (2023)
Subject Terms: генетика, классификация в генетике, генные болезни, хромосомные болезни, многофакторные болезни, Medicine (General), R5-920
File Description: electronic resource
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4Academic Journal
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5Academic Journal
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6Academic Journal
Source: Nauchno-prakticheskii zhurnal «Medicinskaia genetika». :3-12
Subject Terms: chromosomal diseases, хромосомные болезни, chromosomal mosaicism, 1. No poverty, анеуплоидия, экстракорпоральное оплодотворение, преимплантационная генетическая диагностика, хромосомный мозаицизм, 3. Good health, преимплантационное генетическое тестирование, преимплантационный генетический скрининг, aneuploidy, in vitro fertilization, preimplantation genetic testing for aneuploidy (PGT-A), preimplantation genetic diagnosis, preimplantation genetic screening
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7Academic Journal
Source: Сборник статей
Subject Terms: DI GEORGE SYNDROME, DELETION 22Q11.2, CONGENITAL IMMUNODEFICIENCY DISORDER, PRIMARY IMMUNODEFICIENCY, CHROMOSOMAL DISEASES, СИНДРОМ ДИ ДЖОРДЖИ, ДЕЛЕЦИЯ 22Q11.2, ВРОЖДЕННЫЙ ИММУНОДЕФИЦИТ, ПЕРВИЧНЫЕ ИММУНОДЕФИЦИТЫ, ХРОМОСОМНЫЕ БОЛЕЗНИ
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Relation: Актуальные вопросы современной медицинской науки и здравоохранения: материалы VII Международной научно-практической конференции молодых учёных и студентов, Екатеринбург, 17-18 мая 2022 г.; http://elib.usma.ru/handle/usma/10024
Availability: http://elib.usma.ru/handle/usma/10024
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8Academic Journal
Authors: N. L. Puriskina, T. I. Suhanova, Y. S. Girgel, L. I. Minaycheva, G. N. Seitova, Н. Л. Пурыскина, Т. И. Суханова, Ю. С. Гиргель, Л. И. Минайчева, Г. Н. Сеитова
Source: Medical Genetics; Том 21, № 8 (2022); 35-39 ; Медицинская генетика; Том 21, № 8 (2022); 35-39 ; 2073-7998
Subject Terms: синдром Жубер, ultrasound examination of the fetus, malformations of the central nervous system, chromosomal diseases, ультразвуковое исследование плода, пороки развития центральной нервной системы, хромосомные болезни
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Relation: https://www.medgen-journal.ru/jour/article/view/2129/1596; Медведев М.В. Пренатальная эхография. Дифференциальный диагноз и прогноз. 3-е изд. М.: Реал Тайм; 2012: 464.; Овсова О.В. Клинико-эпидемиологический анализ и оценка факторов риска формирования врожденных пороков развития центральной нервной системы у детей. Автореф. дисс. на соискание ученой степени к.м.н. Екатеринбург, 2007. 27 с.; Сопрунова, И.В. Клинико-эпидемиологические и профилактические аспекты врожденных пороков развития центральной нервной системы на территории Астраханской области. Дисс. на соискание ученой степени к.м.н. Саратов, 2012. 155 с.; Пренатальная Эхография. Ред. М.В. Медведев. М.: Реальное время; 2005:560.; Токтарова О.А., Терегулова Л.Е.,Абусева А.В., Вафина З.И.,Тухбатуллин М.Г. Диагностика патологии центральной нервной системы плода в рамках пренатального скрининга I триместра по модулю FMF. Практическая медицина. 2014, 3(79):128-134; Воеводин С.М., Шеманаева Т.В. Профилактика пороков развития. Медицинский Совет. 2016;(2):26-31. https://doi.org/10.21518/2079-701X-2016-2-26-31; Эсетов М.А. Ультразвуковая диагностика врожденных пороков развития плода в ранние сроки беременности. Автореф. дисс. на соискание ученой степени д.м.н. М., 2007. 41 с.; Timor-Tritch I.E., Monteagudo A., Pilu G. et al. Ultrasonography of the prenatal brain. Third edition. McGrow-Hill Companies, Inc., 2012. 490 p.; Hannon T., Tennant P.W. , Rankin J. et al. Epidemiology, natural history, progression, and postnatal outcome of severe fetal ventriculomegaly. Obstet. Gynecol. 2012; 120(6): 1345-1353. doi:10.1097/aog.0b013e3182732b53.; Козлова О.И. Нейросонография плода во втором триместре беременности. Автореф. дисс. на соискание ученой степени д.м.н.Москва, 2021. 271 с.; Корлякова М.Н, Воронин Д.В. и др. Пренатальная мультимодальная лучевая диагностика унилатеральной гипоплазии мозжечка: описание 3 случаев и обзор литературы. Пренатальная диагностика.2020;19(1):25-34.; Кондакова О.Б. Спектр наследственной патологии, характеризующейся врожденными пороками развития центральной нервной системы. Медицинская генетика. 2020;19(4):64-65. https://doi.org/10.25557/2073-7998.2020.04.64-65
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9Academic Journal
Authors: I. N. Lebedev, И. Н. Лебедев
Source: Medical Genetics; Том 19, № 3 (2020); 5-6 ; Медицинская генетика; Том 19, № 3 (2020); 5-6 ; 2073-7998
Subject Terms: CNV, онтогенетика, хромосомные болезни, клеточное репрограммирование, pathogenetics, ontogenetics, chromosomal diseases, cell reprogramming
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10Academic Journal
Authors: I. N. Lebedev, И. Н. Лебедев
Source: Medical Genetics; Том 18, № 3 (2019); 3-12 ; Медицинская генетика; Том 18, № 3 (2019); 3-12 ; 2073-7998
Subject Terms: chromosomal mosaicism, преимплантационная генетическая диагностика, преимплантационный генетический скрининг, преимплантационное генетическое тестирование, хромосомные болезни, хромосомный мозаицизм, экстракорпоральное оплодотворение, aneuploidy, in vitro fertilization, preimplantation genetic diagnosis, preimplantation genetic screening, preimplantation genetic testing for aneuploidy (PGT-A), chromosomal diseases
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Availability: https://www.medgen-journal.ru/jour/article/view/672
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11Academic Journal
Authors: Leyla S. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, Kirill V. Savostyanov, Alexandr A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan, Л. С. Намазова-Баранова, О. В. Гинтер, Т. А. Полунина, И. В. Давыдова, К. В. Савостьянов, А. А. Пушков, Н. В. Журкова, Т. Я. Мосьпан
Source: Current Pediatrics; Том 16, № 5 (2017); 392-398 ; Вопросы современной педиатрии; Том 16, № 5 (2017); 392-398 ; 1682-5535 ; 1682-5527
Subject Terms: хромосомные болезни, 22q11.2, children, syndrome, chromosome, chromosomal diseases, дети, синдром, хромосома
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Relation: https://vsp.spr-journal.ru/jour/article/view/1807/736; Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332–339.e1. doi:10.1016/j.jpeds.2011.02.039.; Delio M, Guo T, McDonald-McGinn DM, et al. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet. 2013;92(3):439–447. doi:10.1016/j.ajhg.2013.01.018.; Scambler PJ. The 22q11 deletion syndrome. Hum Mol Genet. 2000;9(16):2421–2426. doi:10.1093/hmg/9.16.2421.; Козлова Ю.О. Разработка технологии пре- и постнатальной диагностики группы синдромов, обусловленных микроделецией 22q11.2: Автореф. дис. … канд. мед. наук. — М.; 2014. — 26 с. [Kozlova YuO. Razrabotka tekhnologii pre- i postnatal’noi diagnostiki gruppy sindromov, obuslovlennykh mikrodeletsiei 22q11.2. [dissertation abstract] Moscow; 2014. 26 p. (In Russ).]; Driscoll DA. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med. 2001;3(1):14–18. doi:10.109700125817-200101000-00004.; Beauchesne LM, Warnes CA, Connolly HM, et al. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol. 2005;45(4): 595–598. doi:10.1016/j.jacc.2004.10.056.; Keyte AL, Alonzo-Johnsen M, Hutson MR. Evolutionary and developmental origins of the cardiac neural crest: building a divided outflow tract. Birth Defects Res C Embryo Today. 2014;102(3): 309–323. doi:10.1002/bdrc.21076.; McElhinney DB, McDonald-McGinn D, Zackai EH, Goldmuntz E. Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics. 2001;108(6):e104. doi:10.1542/peds.108.6.e104.; Федеральные клинические рекомендации по диагностике и лечению синдрома делеции 22-й хромосомы. — М.: Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева; 2014. — 12 с. [Federal’nye klinicheskie rekomendatsii po diagnostike i lecheniyu sindroma deletsii 22-i khromosomy. Moscow: Federal’nyi nauchnoklinicheskii tsentr detskoi gematologii, onkologii i immunologii im. Dmitriya Rogacheva; 2014. 12 p. (In Russ).]; Choi JH, Shin YL, Kim GH, et al. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res. 2005;63(6):294–299. doi:10.1159/000086745.; Cheung EN, George SR, Costain GA, et al. Prevalence of hypocalcemia and its associated features in 22q11.2 deletion syndrome. Clin Endocrinol (Oxf). 2014;81(2):190–196. doi:10.1111/cen.12466.; Taylor SC, Morris G, Wilson D, et al. Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child. 2003;88(6):520–522. doi:10.1136/adc.88.6.520.; Piliero LM, Sanford AN, McDonald-McGinn DM, et al. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004;103(3):1020–11025. doi:10.1182/blood-2003-08-2824.; Jyonouchi S, McDonald-McGinn DM, Bale S, et al. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics. 2009;12(5):e871–e877. doi:10.1542/peds.2008-3400.; Zemble R, Luning Prak E, McDonald K, et al. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol. 2010;136(3):409–418. doi:10.1016/j.clim.2010.04.011.; Greenhalgh KL, Aligianis IA, Bromilow G, et al. 22q11 deletion: a multisystem disorder requiring multidisciplinary input. Arch Dis Child. 2003;88(6):523–524. doi:10.1136/adc.88.6.523.; Digilio MC, Pacifico C, Tieri L, et al. Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br J Audiol. 1999;33(5):329–333. doi:10.3109/ 03005369909090116.; Ford LC, Sulprizio SL, Rasgon BM. Otolaryngological manifestations of velocardiofacial syndrome: a retrospective review of 35 patients. Laryngoscope. 2000;110(3 Pt 1):362–367. doi:10.1097/00005537-200003000-00006.; Schneider M, Debbane M, Bassett AS, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2014;171(6): 627–639. doi:10.1176/appi.ajp.2013.13070864.; Green T, Gothelf D, Glaser B, et al. Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry. 2009;48(11):1060–1068. doi:10.1097/ CHI.0b013e3181b76683.; Glaser B, Mumme DL, Blasey C, et al. Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J Pediatr. 2002;140(6):753–758. doi:10.1067/mpd.2002.124774.; Gerdes M, Solot C, Wang PP, et al. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet. 1999;85(2):127–133. doi:10.1002/(sici)1096-8628(19990716)85:23.3.co;2-6.; Mills L, Gosling A, Sell D. Extending the communication phenotype associated with 22q11.2 microdeletion syndrome. Int J Speech Lang Pathol. 2006;8(1):17–27. doi:10.1080/14417040500459650.; Kiley-Brabeck K, Sobin C. Social skills and executive function deficits in children with the 22q11 Deletion Syndrome. Appl Neuropsychol. 2006;13(4):258–268. doi:10.1207/ s15324826an1304_7.; McDonald-McGinn DM, Sullivan K. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90(1):1–18. doi:10.1097/ MD.0b013e3182060469.; Forbes BJ, Binenbaum G, Edmond JC, et al. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS. 2007; 11(2):179–182. doi:10.1016/j.jaapos.2006.08.006.
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12Academic Journal
Authors: Kudryavtseva, E. V., Kovalev, V. V., Kanivets, I. V., Korostelev, S. A., Кудрявцева, Е. В., Ковалев, В. В., Канивец, И. В., Коростелев, С. А.
Subject Terms: CMA, MISCARRIAGE, MOLECULAR CYTOGENETIC ANALYSIS, KARYOTYPE, CHROMOSOMAL DISEASE, ХМА, МОЛЕКУЛЯРНОЕ КАРИОТИПИРОВАНИЕ, НЕВЫНАШИВАНИЕ БЕРЕМЕННОСТИ, КАРИОТИП, ХРОМОСОМНЫЕ БОЛЕЗНИ
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Relation: Уральский медицинский журнал. 2016. T. 144, № 11.; http://elib.usma.ru/handle/usma/13356
Availability: http://elib.usma.ru/handle/usma/13356
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13Academic Journal
Authors: Leyla S. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, Kirill V. Savostyanov, Alexandr A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan, Л. С. Намазова-Баранова, О. В. Гинтер, Т. А. Полунина, И. В. Давыдова, К. В. Савостьянов, А. А. Пушков, Н. В. Журкова, Т. Я. Мосьпан
Source: Current Pediatrics; Том 15, № 6 (2016); 590-595 ; Вопросы современной педиатрии; Том 15, № 6 (2016); 590-595 ; 1682-5535 ; 1682-5527
Subject Terms: хромосомные болезни, children, syndrome, chromosome, chromosomal disease, дети, синдром, хромосома
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Relation: https://vsp.spr-journal.ru/jour/article/view/1697/665; Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112(1 Pt 1): 101–107. doi:10.1542/peds.112.1.101.; Delio M, Guo T, McDonald-McGinn DM, et al. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet. 2013;92(3):439– 447. doi:10.1016/j.ajhg.2013.01.018.; McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net. Genet Med. 2001; 3(1):23–29. doi:10.109700125817-200101000-00006.; Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332.e331–339.e331. doi:10.1016/j.jpeds.2011.02.039.; Repetto GM, Guzman ML, Delgado I, et al. Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study. BMJ Open. 2014;4(11):e0050415. doi:10.1136/bmjopen-2014-005041.; McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, et al. The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet A. 2005;134(3):242–246. doi:10.1002/ajmg.a.30069.; Tenas Du Montcel S, Mendizabai H, Ayme S, et al. Prevalence of 22q11 microdeletion. J Med Genet. 1996;33(8):719. doi:10.1136/jmg.33.8.719.; sign.ac.uk [Internet]. Scottish Intercollegiate Guidelines Network. World Wide Web 2011 [cited 2016 Oct 19]. Available from: http://www.sign.ac.uk/.; Harbour R, Miller J. A new system for grading recommendations in evidence based guidelines. BMJ. 2001;323(7308):334–336. doi:10.1136/bmj.323.7308.334.; DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. In: Bergma D, Good RA, editors. Immunologic deficiency diseases in man. New York: The National Foundation; 1968. p. 116– 121.; Scambler PJ, Carey AH, Wyse RK, et al. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics. 1991;10(1):201–206. doi:10.1016/0888-7543(91)90501-5.; Demczuk S, Desmaze C, Aikem M, et al. Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. Ann Genet. 1994;37(2):60-65.; Gong W, Emanuel BS, Collins J, et al. A transcription map of the DiGeorge and velo- cardio-facial syndrome minimal critical region on 22q11. Hum Mol Genet. 1996;5(6):789– 800. doi:10.1093/hmg/5.6.789.; Kinouchi A, Mori K, Ando M, Takao A. Facial appearance of patients with conotruncal anomalies. Pediatr Jpn. 1976; 17(1):84–87.; Shprintzen RJ. The name game. Perspectives of the ASHA Special Interest Groups. 1998;8:7–11. doi:10.1044/ssod8.1.7.; Bailey JA, Yavor AM, Viggiano L, et al. Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22. Am J Hum Genet. 2002;70(1):83–100. doi:10.1086/338458.; Babcock M, Pavlicek A, Spiteri E, et al. Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Res. 2003;13(12):2519–2532. doi:10.1101/gr.1549503.; Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003;362(9393):1366–1373. doi:10.1016/S0140-6736(03)14632-6.; Guna A, Butcher NJ, Bassett AS. Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms. J Neurodev Disord. 2015;7(1):18. doi:10.1186/s11689-015-9113-x.; Zhang Z, Huynh T, Baldini A. Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development. 2006;133(18):3587–3595. doi:10.1242/dev.02539.; Papangeli I, Scambler P. The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1. Wiley Interdiscip Rev Dev Biol. 2013;2(3):393–403. doi:10.1002/wdev.75.; Calmont A, Ivins S, Van Bueren KL, et al. Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. Development. 2009;136(18):3173–3183. doi:10.1242/dev.028902.; Cioffi S, Martucciello S, Fulcoli FG, et al. Tbx1 regulates brain vascularization. Hum Mol Genet. 2014;23(1):78–89. doi:10.1093/hmg/ddt400.; Sellier C, Hwang VJ, Dandekar R, et al. Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome. PLoS ONE. 2014;9(8):e103884. doi:10.1371/journal.pone.0103884.; Guris DL, Fantes J, Tara D, et al. Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet. 2001;27(3):293– 298. doi:10.1038/85855.; Racedo SE, McDonald-McGinn DM, Chung JH, et al. Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet. 2015;96(2):235–244. doi:10.1016/j.ajhg.2014.12.025.; Bedeschi MF, Colombo L, Mari F, et al. Unmasking of a recessive SCARF2 mutation by a 22q11.12 de novo deletion in a patient with Van den Ende–Gupta syndrome. Mol Syndromol. 2010;1(5): 239–245. doi:10.1159/000328135.; Bassett AS, Caluseriu O, Weksberg R, et al. Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biol Psychiatry. 2007;61(10):1135–1140. doi:10.1016/j.biopsych.2006.07.038.; Peyvandi S, Lupo PJ, Garbarini J, et al. 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol. 2013;34(7):1687–1694. doi:10.1007/s00246-013-0694-4.; Keyte AL, Alonzo-Johnsen M, Hutson MR. Evolutionary and developmental origins of the cardiac neural crest: building a divided outflow tract. Birth Defects Res C Embryo Today. 2014;102(3): 309–323. doi:10.1002/bdrc.21076.; McElhinney DB, McDonald-McGinn D, Zackai EH, Goldmuntz E. Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics. 2001;108(6): E104. doi:10.1542/peds.108.6.e104.; John AS, McDonald-McGinn DM, Zackai EH, Goldmuntz E. Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet A. 2009;149A(5):939–942. doi:10.1002/ajmg.a.32770.; McElhinney DB, Clark BJ, III, Weinberg PM, et al. Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol. 2001;37(8):2114–2119. doi:10.1016/S0735-1097(01)01286-4.; Федеральные клинические рекомендации по диагностике и лечению синдрома делеции 22-й хромосомы. — М.: ФНКЦ ДГОИ им. Д. Рогачева; 2014. — 12 с. [Federal’nye klinicheskie rekomendatsii po diagnostike i lecheniyu sindroma deletsii 22-i khromosomy. Moscow: FNKTs DGOI im. D. Rogacheva; 2014. 12 p. (In Russ).]; Козлова Ю.О. Разработка технологии пре- и постнатальной диагностики группы синдромов, обусловленных микроделецией 22q11.2: автореф. дис. … канд. мед. наук. — М.; 2014. — 26 с. [Kozlova YuO. Razrabotka tekhnologii pre- i postnatal’noi diagnostiki gruppy sindromov, obuslovlennykh mikrodeletsiei 22q11.2. [dissertation abstract] Moscow; 2014. 26 p. (In Russ).]; Weinzimer SA. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med. 2001;3(1):19–22. doi:10.109700125817-200101000-00005.; Garabedian M. Hypocalcemia and chromosome 22q11 microdeletion. Genet Couns. 1999;10(4):389–394.; Choi JH, Shin YL, Kim GH, et al. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res. 2005; 63(6):294–299. doi:10.1159/000086745.; Cheung EN, et al. Prevalence of hypocalcemia and its associated features in 22q11.2 deletion syndrome. Clin Endocrinol (Oxf). 2014;81(2):190–196. doi:10.1111/cen.12466.; Taylor SC, Morris G, Wilson D, et al. 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14Academic Journal
Authors: Крючкова, Т. А., Мезенцева, О. А.
Subject Terms: медицина, наследственные болезни, хромосомные болезни, дети, синдром Сильвера - Рассела, клинический случай
Availability: http://dspace.bsu.edu.ru/handle/123456789/60031
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15Academic Journal
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16Academic Journal
Authors: Баранов, Владислав, Айламазян, Эдуард
Subject Terms: ПРЕНАТАЛЬНАЯ ДИАГНОСТИКА, ГЕННЫЕ И ХРОМОСОМНЫЕ БОЛЕЗНИ, ИНВАЗИВНЫЕ И НЕИНВАЗИВНЫЕ МЕТОДЫ ДИАГНОСТИКИ
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17Academic Journal
Source: Репродуктивна ендокринологія; № 24 (2015); 101-106
Репродуктивная эндокринология; № 24 (2015); 101-106
Reproductive Endocrinology; № 24 (2015); 101-106Subject Terms: 03 medical and health sciences, 0302 clinical medicine, хромосомные болезни, цитогенетическая диагностика, постнатальное кариотипирование, хромосомні хвороби, цитогенетична діагностика, постнатальне каріотипування, chromosomal diseases, cytogenetic diagnostics, postnatal karyotyping, 3. Good health
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18
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19Academic Journal
Authors: Кузнецова, Т.
Subject Terms: ПРЕНАТАЛЬНАЯ ДИАГНОСТИКА, ХРОМОСОМНЫЕ БОЛЕЗНИ, ХРОМОСОМНЫЕ АНОМАЛИИ, КАРИОТИПИРОВАНИЕ
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20Academic Journal
Authors: Баранов, Александр, Кондакова, О., Журкова, Н.
Subject Terms: ХРОМОСОМНЫЕ БОЛЕЗНИ, НАСЛЕДСТВЕННЫЕ БОЛЕЗНИ ОБМЕНА ВЕЩЕСТВ, ВРОЖДЕННЫЙ ПОРОК РАЗВИТИЯ
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