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1Academic Journal
Συγγραφείς: I. V. Anisimova, И. В. Анисимова
Πηγή: Medical Genetics; Том 20, № 7 (2021); 45-58 ; Медицинская генетика; Том 20, № 7 (2021); 45-58 ; 2073-7998
Θεματικοί όροι: секвенирование нового поколения, intellectual disability, chromosomal diseases, monogenic diseases, genomic imprinting disorders, diagnostic efficiency, segregation analysis, chromosomal microarray analysis, next generation sequencing, умственная отсталость, хромосомные заболевания, моногенные болезни, болезни геномного импринтинга, диагностическая эффективность, сегрегационный анализ, хромосомный микроматричный анализ
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Relation: https://www.medgen-journal.ru/jour/article/view/1948/1503; Hu H., Kahrizi K., Musante L. et al. Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019; 24 (7): 1027-1039. DOI:10.1038/s41380-017-0012-2.; Hudgins L., Toriello H. V., Enns G.M. et al. Signs and symptoms of genetic conditions: a handbook. Oxford University Press. 2014. - 540 p.; Harripaul R., Vasli N., Mikhailov A. et al. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2018; 23(4): 973-984. DOI:10.1038/mp.2017.60.; Boycott K.M., Rath A., Chong J.X. et al. International cooperation to enable the diagnosis of all rare genetic diseases. Am J Hum Genet. 2017;100(5):695-705. DOI:10.1016/j.ajhg.2017.04.003.; Chiurazzi P., Kiani A.K., Miertus J. et al. Genetic analysis of intellectual disability and autism. Acta Biomed. 2020; 91(13-S): e2020003. DOI:10.23750/abm.v91i13-S.10684.; Puri R.D., Tuteja M., Verma I.C. Genetic approach to diagnosis of intellectual disability [published correction appears in Indian J Pediatr. 2017; 84(3): 256]. Indian J Pediatr. 2016; 83(10): 1141-1149.- DOI:10.1007/s12098-016-2205-0.; Heuvelman H., Abel K., Wicks S. et al. Gestational age at birth and risk of intellectual disability without a common genetic cause. Eur J Epidemiol. 2018; 33(7): 667-678. DOI:10.1007/s10654-017-0340-1.; Бочков Н.П., Гинтер Е.К., Пузырев В.П. Наследственные болезни: национальное руководство. Изд-во: ГЭОТАР-Медиа, 2012. - 936 с.; Vissers L.E.L.M., Gilissen C., Veltman J.A. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016; 17(1): 9-18. DOI:10.1038/nrg3999.; Bass N., Skuse D. Genetic testing in children and adolescents with intellectual disability. Curr Opin Psychiatry. 2018; 31(6): 490-495. DOI:10.1097/YCO.0000000000000456.; Hu T., Zhang Z., Wang J. et al. Chromosomal aberrations in pediatric patients with developmental delay/intellectual disability: a single-center clinical investigation. Biomed Res Int. 2019: 9352581. DOI:10.1155/2019/9352581.; Ilyas M., Mir A., Efthymiou S. et al. The genetics of intellectual disability: advancing technology and gene editing. F1000Res. 2020; (9): 22. DOI:10.12688/f1000research.16315.1.; Yokoi T., Enomoto Y., Tsurusaki Y. et al. An efficient genetic test flow for multiple congenital anomalies and intellectual disability. Pediatr Int. 2020;62(5): 556-561. DOI:10.1111/ped.14159.; Anazi S., Maddirevula S., Salpietro V. et al. Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2017; 136(11-12): 1419-1429. DOI:10.1007/s00439-017-1843-2.; Gilissen C., Hehir-Kwa J.Y., Thung D.T. et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014. - 511(7509): 344-347. - DOI:10.1038/nature13394.; Harripaul R., Noor A., Ayub M. et al. The use of next-generation sequencing for research and diagnostics for intellectual disability. Cold Spring Harb Perspect Med. 2017; 7(3): a026864. DOI:10.1101/cshperspect.a026864.; Jamra R. Genetics of autosomal recessive intellectual disability. Med Genet. 2018; 30(3): 323-327. DOI:10.1007/s11825-018-0209-z.; Vallance H., Sinclair G., Rakic B. et al. Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability. J. Paediatr. Child Health. 2020; pxaa112. DOI: org/10.1093/pch/pxaa112.; Rauch A., Hoyer J., Guth S. et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet Part A 2006; 140: 2063-2074. DOI:10.1002/ajmg.a.31416.; Musante L., Ropers H.H. Genetics of recessive cognitive disorders. Trends Genet 2014; 30: 32-39. DOI:10.1016/j.tig.2013.09.008.; Harripaul R., Vasli N., Mikhailov A. et al. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2018; 23(4): 973-984.; Anazi S., Maddirevula S., Faqeih E. et al. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017; 22(4): 615-624. DOI:10.1038/mp.2016.113.; Monies D., Abouelhoda M., AlSayed M. et al. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017; 136(8): 921-939. DOI:10.1007/s00439-017-1821-8.; Hamdan F.F., Srour M., Capo-Chichi J.M. et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014; 10(10): e1004772. DOI:10.1371/journal.pgen.1004772.; Fitzgerald T.W., Gerety S.S., Jones W.D. et al. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015; (519): 223-228. DOI:10.1038/nature14135.; Воинова В. Ю., Ворсанова С. Г., Юров Ю. Б. и соавт. Алгоритм диагностики X-сцепленных форм умственной отсталости у детей. Рос вестн перинатол и педиатр 2016; 61(5): 34-41. DOI:10.21508/1027-4065-2016-61-5-34-41.; Peng J.P., Liu F., Xie H. et al. The pathogenicity of genomic/genetic variant of X-chromosomal genes in males with intellectual disability. Yi Chuan. 2017; 39(6): 455-468. DOI:10.16288/j.yczz.16-407.; De Luca C., Race V., Keldermans L. et al. Challenges in molecular diagnosis of X-linked intellectual disability. Br Med Bull. 2020; 133(1): 36-48. DOI:10.1093/bmb/ldz039.; Iourov I.Y., Vorsanova S.G., Korostelev S.A. et al. Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy. Mol Cytogenet. 2015; (8): 77. DOI:10.1186/s13039-015-0182-z.; Cavalli-Sforza L.L., Bodmer W.L. The genetics of human populations. Freeman W.H. San Francisco. 1971 - 860 p.; Фогель Ф., Мотульски А. Генетика человека: в 3-х т. Том 3. Москва: Мир. 1990 - 366 с.; Анисимова И.В. Анализ структуры задержки психического развития и умственной отсталости среди пациентов Медико-генетического научного центра. Медицинская генетика. 2021; 20(5): 15-25. DOI:10.25557/2073-7998.2021.05.15-25.; Tzschach A., Ropers H.H. Genetics of mental retardation. Dtsch Arztebl 2007; 104(20): A1400-1405.; Michelson D.J., Shevell M.I., Sherr E.H. et al. Evidence report: genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011; (77): 1629-1635. DOI:10.1212/WNL.0b013e3182345896.; Karaman B., Kayserili H., Ghanbari A. et al. Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases. Mol Cytogenet. 2018; (11): 45. DOI:10.1186/s13039-018-0395-z.; Анисимова И.В. Генетика умственной отсталости. Медицинская генетика 2021; 20(2): 3-20. DOI:10.25557/2073-7998.2021. 02.3-20.; Шилова Н.В., Миньженкова М.Е. Интерпретация клинически значимых вариаций числа копий ДНК. Медицинская генетика 2018; 17(10): 15-19. DOI:10.25557/2073-7998.2018. 10.15-19.; Lay-Son G., Espinoza K., Vial C. et al. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies. J. Pediatr (Rio J). 2015; (91): 189-195. DOI:10.1016/j.jped.2014.07.003.; Ho K.S., Wassman E.R., Baxter A.L. et al. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray optimized for neurodevelopmental disorders. Int J Mol Sci. 2016; 17(12): 2070. DOI:10.3390/ijms17122070.; Fan Y., Wu Y., Wang L. et al. Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions. BMC Medical Genomics. 2018; (11): 49. DOI:10.1186/s12920-018-0368-4.; de Souza L.C., Dos Santos A.P., Sgardioli I.C. et al. Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances. J Intellect Disabil Res. 2019; 63(11): 1379-1389. DOI:10.1111/jir.12615.; Sbruzzi I.C., Pereira A.C., Vasconcelos B. et al. Williams-Beuren syndrome: diagnosis by polymorphic markers. Genet Test Mol Biomarkers. 2010; 14(2): 209-214. DOI:10.1089/gtmb.2009.0120.; Dutra R.L., Pieri Pde C., Teixeira A.C. et al. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers. Clinics (Sao Paulo). 2011; 66(6): 959-64. DOI:10.1590/s1807-59322011000600007.; Seo G.H., Kim J.H., Cho J.H. et al. Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay. Korean J Pediatr. 2016; 59(1): 16-23. DOI:10.3345/kjp.2016.59.1.16.; Schuurs-Hoeijmakers J.H., Vulto-van Silfhout A.T., Vissers L.E. et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet. 2013; 50(12): 802-811. DOI:10.1136/jmedgenet-2013- 101644.; Kvarnung M., Nordgren A. Intellectual disability & rare disorders: a diagnostic challenge. Adv Exp Med Biol. 2017; (1031): 39-54. DOI:10.1007/978-3-319-67144-4_3.; Wieczorek D. Autosomal dominant intellectual disability. Med Genet. 2018; 30(3): 318-322. DOI:10.1007/s11825-018-0206-2.; Mir Y.R., Kuchay R.A.H. Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review. J Med Genet. 2019; 56(9): 567-573. DOI:10.1136/jmedgenet-2018-105821.; Monk D., Mackay D. J. G., Eggermann T. et al. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact. Nat Rev Genet. 2019; 20(4): 235-248. DOI:10.1038/s41576-018-0092-0.; Õunap K. Silver-Russell syndrome and Beckwith-Wiedemann syndrome: opposite phenotypes with heterogeneous molecular etiology. Mol Syndromol. 2016; 7(3): 110-121. DOI:10.1159/000447413.; Семенова Н.А., Анисимова И.В., Володин И. В. и соавт. Делеция импринтированного региона 14q32.2 у пациента с синдром Кагами-Огата. Медицинская генетика, 2018; 17(11): 43-47. DOI:10.25557/2073-7998.2018.11.43-47.; Wang T.S., Tsai W.H., Tsai L.P. et al. Clinical characteristics and epilepsy in genomic imprinting disorders: Angelman syndrome and Prader-Willi syndrome. Ci Ji Yi Xue Za Zhi. 2019; 32(2): 137-144. DOI:10.4103/tcmj.tcmj_103_19.; Spiteri B.S., Stafrace Y., Calleja-Agius J. Silver-Russell syndrome: a review. Neonatal Netw. 2017; 36(4): 206-212. DOI:10.1891/0730-0832.36.4.206.
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2Academic Journal
Συγγραφείς: I. V. Anisimova, И. В. Анисимова
Πηγή: Medical Genetics; Том 20, № 5 (2021); 15-25 ; Медицинская генетика; Том 20, № 5 (2021); 15-25 ; 2073-7998
Θεματικοί όροι: болезни геномного импринтинга, intellectual disability, chromosomal disorders, monogenic diseases, genomic imprinting disorders, умственная отсталость, хромосомные заболевания, моногенные болезни
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Relation: https://www.medgen-journal.ru/jour/article/view/1908/1488; Международная классификация болезней 10-го пересмотра. https://mkb-10.com/; Karam S.M., Riegel M., Segal S.L. et al. Genetic causes of intellectual disability in a birth cohort: a population-based study. Am J Med Genet A. 2015; 167(6): 1204-1214. doi:10.1002/ajmg.a.37011.; Vissers L.E.L.M., Gilissen C., Veltman J.A. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016; 17(1): 9-18. doi:10.1038/nrg3999.; Murthy R.S., Bertolote J.M., Epping-Jordan J.A. et al. The world health report. Mental health: new understanding, new hope. WHO. 2001;104.; Stromme P. Aetiology in severe and mild mental retardation: a population-based study of Norwegian children. Dev Med Child Neurol. 2000; (42): 76-86. doi.org/10.1017/s0012162200000165.; Tasman A., Kay J., Lieberman J.A. et al. Psychiatry (3rd ed.). John Wiley & Sons. 2008. 2634 p.; Moeschler J.B., Shevell M. Committee on Genetics. Comprehensive evaluation of the child with intellectual disability or global and developmental delays. Pediatrics. 2014; 134(3): e903-e918. doi:10.1542/peds.2014-1839.; Puri R.D., Tuteja M., Verma I.C. Genetic Approach to Diagnosis of Intellectual Disability [published correction appears in Indian J Pediatr. 2016 Mar;84(3):256]. Indian J Pediatr. 2016; 83(10): 1141-1149. doi:10.1007/s12098-016-2205-0.; Vickers R.R., Gibson J.S. A review of the genomic analysis of children presenting with developmental delay/intellectual disability and associated dysmorphic features. Cureus. 2019; 11(1): e3873. doi:10.7759/cureus.3873.; Miclea D., Peca L., Cuzmici Z. et al. Genetic testing in patients with global developmental delay/intellectual disabilities. A review. Clujul Med. 2015; 88(3): 288-292. doi:10.15386/cjmed-461.; Ilyas M., Mir A., Efthymiou S., Houlden H. The genetics of intellectual disability: advancing technology and gene editing. F1000Res. 2020 Jan 16; (9): F1000 Faculty Rev-22. doi:10.12688/f1000research.16315.1.; Murphy C., Lincoln S., Meredith S. et al. Sex Education and Intellectual Disability: Practices and Insight from Pediatric Genetic Counselors. J Genet Couns. 2016 Jun; 25(3):552-560. doi:10.1007/s10897-015-9909-6.; Blesson A., Cohen J.S. Genetic Counseling in Neurodevelopmental Disorders. Cold Spring Harb Perspect Med. 2020; 10(4): a036533. doi:10.1101/cshperspect.a036533.; Clarke A. Harper’s practical genetic counselling. 8th edition. CRC Press. 2020. - 532 p.; Rauch A., Wieczorek D., Graf E. et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012; 380(9854): 1674-1682. doi:10.1016/S0140-6736(12)61480-9.; Stevenson R.E., Procopio-Allen A.M., Schroer R.J. et al. Genetic syndromes among individuals with mental retardation. Am J Med Genet A. 2003; 123A(1): 29-32. doi:10.1002/ajmg.a.20492.; López-Pisón J., García-Jiménez M.C., Monge-Galindo L. et al. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010. Neurologia. 2014; 29(7): 402-407. doi:10.1016/j.nrl.2013.10.006.; Xie Z.H., S.Y. Bo, X.T. Zhang et al. Sampling survey on intellectual disability in 0-6-year-old children in China. J Intellect Disabil Res. 2008; (52): 1029-1038. doi: org/10.1111/j.1365-2788.2008.01048.x.; Boyle C.A., Yeargin-Allsopp M., Holmgreen N.S. et al. Prevalence selected developmental disabilities in children 3-10 years of age: The metropolitans developmental disabilities surveillance program, 1991. Centers for Disease Control and Prevention, MMWR Surveillance Summaries. - 1996.- 20 p.; Петраков Б.Д., Цыганков Б.Д. Эпидемиология психических расстройств: Руководство для врачей. - М., 1996.- 136 с.; Murphy C.C., Yeargin-Allsopp M., Decoufle P. et al. The administrative prevalence of mental retardation in 10-year-old children in metropolitan Atlanta, 1985 through 1987. Am. J. Public Health. - 1995; (85): 319-323. doi:10.2105/ajph.85.3.319.; Bradley E.A., Thompson A., Bryson S.E. Mental retardation in teenagers: prevalence data from the Niagara region, Ontario. Can J Psychiatry. 2002; 47(7): 652-659. doi:10.1177/070674370204700707.; Leonard H., Petterson B., Bower C., Sanders R. Prevalence of intellectual disability in Western Australia. Paediatr Perinat Epidemiol. 2003 Jan;17(1):58-67. doi:10.1046/j.1365-3016.2003.00469.x.; Sadock B.J., Sadock V.A., Ruiz P. Kaplan & Sadock’s comprehensive textbook of psychiatry. Philadelphia: Lippincott Williams & Wilkins. 2009 (9th ed.) - 4884 p.; Исаев Д.Н. Умственная отсталость у детей и подростков. Изд-во: Речь, 2003.- 400 с.; Raymond F.L., Tarpey P. The genetics of mental retardation. Hum Mol Genet. 2006; (15): 110-116. doi:10.1093/hmg/ddl189.; De Luca C., Race V., Keldermans L. et al. Challenges in molecular diagnosis of X-linked Intellectual disability. Br Med Bull. 2020; 133(1): 36-48. doi:10.1093/bmb/ldz039.; Наследственные болезни: национальное руководство./Ред. Бочков Н.П., Гинтер Е.К., Пузырев В.П. Изд-во: ГЭОТАР-Медиа, 2012. - 936 стр.; Liao L.H., Chen C., Peng J. et al. Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China. Chin Med J (Engl). 2019; 132(13): 1533-1540. doi:10.1097/CM9.0000000000000295.; Cooper G.M., Coe B.P., Girirajan S. et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011; 43(9): 838-46. doi:10.1038/ng.909. Erratum in: Nat Genet. 2014; 46(9): 1040.; Roselló M., Martínez F., Monfort S. et al. Phenotype profiling of patients with intellectual disability and copy number variations. Eur J Paediatr Neurol. 2014; 18(5): 558-66. doi:10.1016/j.ejpn.2014.04.010.; Hu T., Zhang Z., Wang J. et al. Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation. Biomed Res Int. 2019: 1-16. doi:10.1155/2019/9352581.; de Souza L.C., Dos Santos A.P., Sgardioli I.C. et al. Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances. J Intellect Disabil Res. 2019; 63(11): 1379-1389. doi:10.1111/jir.12615.; Grozeva D., Carss K., Spasic-Boskovic O. et al. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Hum Mutat. 2015; 36(12): 1197-1204. doi:10.1002/humu.22901.; Han J.Y., Lee I.G. Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability. Clin Exp Pediatr. 2020; 63(6): 195-202. doi:10.3345/kjp.2019.00808.
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3Academic Journal
Συγγραφείς: Петрова, Елена, Якубовский, Г., Клейменова, И., Семенова, О.
Θεματικοί όροι: ВРОЖДЕННЫЕ ПОРОКИ РАЗВИТИЯ, ХРОМОСОМНЫЕ ЗАБОЛЕВАНИЯ, ПРЕНАТАЛЬНАЯ ДИАГНОСТИКА
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4Academic Journal
Πηγή: Здравоохранение Российской Федерации.
Θεματικοί όροι: 03 medical and health sciences, 0302 clinical medicine, ВРОЖДЕННЫЕ ПОРОКИ РАЗВИТИЯ, ХРОМОСОМНЫЕ ЗАБОЛЕВАНИЯ, ПРЕНАТАЛЬНАЯ ДИАГНОСТИКА
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