Научная электронная библиотека
Монографии, изданные в издательстве Российской Академии Естествознания

УМСТВЕННАЯ ОТСТАЛОСТЬ И ХРОМОСОМА Х

Воинова В. Ю., Юров И. Ю., Ворсанова С. Г., Юров Ю. Б.,

литературА

1. Вельтищев Ю.Е., Царегородцев А.Д., Новиков П.В., Ворсанова С.Г. Современные диагностические и превентивные технологии при наследственных и врожденных нарушениях интеллектуального развития детей. Вестник Российской Академии медицинских наук. 2006. 9-10: 11-18.

2. Вехова Н.В., Демидова И.А., Бичкова Г.М., Ворсанова С.Г., Бужiевська Т.I. Клiнiко-генетичнi аспекти розумовоi вiдсталостi, звязаноi з ламкою Х-хромосомою. Цитология и генетика. 1992. 26(6): 64-72.

3. Воинова В.Ю., Ворсанова С.Г., Юров И.Ю., Будилов А.В., Жьюнти Л., Демидова И.А., Джовануччи-Узиелли М.Л., Новиков П.В., Юров Ю.Б. Анализ корреляций генотипа и фенотипа при синдроме Ретта: использование оригинальной клинической шкалы. Медицинская генетика. 2009. 8 (1): 9-18.

4. Воинова В.Ю., Ворсанова С.Г., Юров И.Ю., Новиков П.В., Юров Ю.Б. Инактивация хромосомы Х: биологические и медицинские аспекты. Медицинская генетика. 2010. 9 (6): 3-15.

5. Воинова В.Ю., Ворсанова С.Г., Юров Ю.Б., Колотий А.Д., Давыдова Ю.И., Демидова И.А., Новиков П.В., Юров И.Ю. Клинико-генетические характеристики синдрома микродупликации длинного плеча хромосомы Х, включающей ген MECP2. Журнал неврологии и психиатрии им. С.С. Корсакова. 2015. 10: 10-16.

6. Ворсанова С.Г., Вехова Н.В., Демидова И.А., Юров Ю.Б. Синдром умственной отсталости, сцепленной с ломкой хромосомой Х: проблемы диагностики и наследования. Журнал неврологии и психиатрии им. С.С. Корсакова. 1998 а. 9: 54-63.

7. Ворсанова С.Г., Демидова И.А., Улас В.Ю., Соловьев И.В., Кравец B.C., Казанцева Л.З., Юров Ю.Б. Цитогенетическая и молекулярно-цитогенетическая диагностика синдрома Ретта у детей. Журнал неврологии и психиатрии им. С.С. Корсакова. 1998 б. 4: 53-56.

8. Ворсанова С.Г., Улас В.Ю., Демидова И.А., Кравец В.С., Юров Ю.Б. Современные представления о синдроме Ретта: клинические, цитогенетические и молекулярные исследования. Журнал неврологии и психиатрии им. С.С.Корсакова.1999. 3: 61-69.

9. Ворсанова С.Г., Юров Ю.Б., Чернышов В.Н. Медицинская цитогенетика. М.: Медпрактика, 2006. – 318 с.

10. Ворсанова С.Г., Юров И.Ю., Соловьев И.В., Юров Ю.Б. Гетерохроматиновые районы хромосом человека: клинико-биологические аспекты. М: Медпрактика, 2008. – 300 с.

11. Ворсанова С.Г., Юров И.Ю., Куринная О.С., Воинова В.Ю., Юров Ю.Б. Геномные аномалии у детей с умственной отсталостью и аутизмом: использование технологии сравнительной геномной гибридизации на хромосомах in situ (HR CGH) и молекулярного кариотипирования на ДНК-микроматрицах (arrayCGH). Журнал неврологии и психиатрии им. С.С.Корсакова. 2013 а. 8: 46-49.

12. Ворсанова С.Г., Юров Ю.Б., Сильванович А.П., Демидова И.А., Юров И.Ю. Современные представления о молекулярной генетике и геномике аутизма. Фундаментальные исследования. 2013б. 4: 356-367.

13. Ворсанова С.Г., Юров И.Ю., Воинова В.Ю., Куринная О.С., Зеленова М.А., Демидова И.А., Улас Е.В., Юров Ю.Б. Микроделеционные формы синдрома Ретта, выявленные методом молекулярного кариотипирования на ДНК-микроматрицах (array CGH), у девочек без мутаций в гене МЕСР2. Журнал неврологии и психиатрии им. С.С. Корсакова. 2013 в. 113 (10): 63-68.

14. Ворсанова С.Г., Юров И.Ю., Куринная О.С., Воинова В.Ю., Демидова И.А., Юров Ю.Б. Молекулярное кариотипирование: проблемы диагностики моногенных заболеваний без выявленных мутаций на примере синдромов аутистических расстройств (синдром Ретта). Фундаментальные исследования. 2014 а. 11: 324-328.

15. Ворсанова С.Г., Юров И.Ю., Воинова В.Ю., Куринная О.С., Зеленова М.А., Демидова И.А., Улас Е.В., Юров Ю.Б. Проблемы диагностики синдрома Ретта у девочек без мутаций в гене MECP2: использование молекулярного кариотипирования. Молекулярная медицина. 2014 б. 3: 39–41.

16. Ворсанова С.Г., Воинова В.Ю., Юров Ю.Б., Колотий А.Д., Демидова И.А., Юров И.Ю. Микроупликации длинного плеча хромосомы Х, включающие ген MECP2, у детей с умственной отсталостью и аутизмом. Успехи современного естествознания. 2015. 1: 391-397.

17. Ворсанова С.Г., Юров И.Ю., Демидова И.А., Кравец В.С., Юров Ю.Б. Цитогенетика и молекулярная цитогенетика аутизма. М.: Издательский дом Академии Естествознания, 2016. – 144 с.

18. Гехт Б.М., Ильина И.Л. Нервно-мышечные болезни. М.: Медицина, 1982. – 350 c.

19. Егорова М.С., Зырянова Н.М., Пьянкова С.Д. Возрастные изменения генотип-средовых отношений в показателях интеллекта. Вопросы психологии. 1993. 2: 106-108.

20. Козлова С.И., Демикова Н.С., Семанова Е., Блинникова О.Е. Наследственные синдромы и медико-гентическое консультирование. М.: КМК, Авторская академия, 2007. 448 с.

21. Соловьев И.В., Ворсанова С.Г., Демидова И.А., Вехова Н.В., Шаронин В.О., Мале П., Казанцева Л.З., Гречанина Е.Я., Бужиевская Т.И., Зерова Т.Э., Ройзес Ж., Юров Ю.Б. Роль молекулярно-цитогенетической диагностики в пост- и пренатальном выявлении хромосомной патологии. Ультразвукова перинатальна дiагностика. 1995. 6 (7): 65-70.

22. Семячкина А.Н., Новиков П.В., Воскобоева Е.Ю., Захарова Е.Ю., Букина Т.М., Смирнова Г.В., Цветкова И.В. Мукополисахаридозы у детей. Российский Вестник Перинатологии и педиатрии. 2007. 4: 22-28.

23. Юров И.Ю., Виллард Л., Ворсанова С.Г., Демидова И.А., Гойко Е.А., Шальнова С.А., Школьникова М.А., Олферьев А.М., Юров Ю.Б. Особенности инактивации хромосомы Х у пожилых женщин старше 70 лет. Цитология и генетика. 2004 а. 38 (4): 49-54.

24. Юров И.Ю., Ворсанова С.Г., Юров Ю.Б. Синдром Ретта у детей: клинические, эпигенетические и генетические аспекты. Современные достижения
генетических исследований: клинические аспекты. Под редакцией Чернышова В.Н., Куцева С.И. Выпуск 2. Ростов-на-Дону: Изд. РостГМУ, 2004 б. 73-85.

25. Юров И.Ю., Ворсанова С.Г., Юров Ю.Б. Умственная отсталость, сцепленная с хромосомой Х, эпигенетические феномены и аутизм. Психиатрия. 2005 а. 1: 55-65.

26. Юров И.Ю., Ворсанова С.Г., Воинова-Улас В.Ю., Виллард Л., Демидова И.А., Жианти Л., Джовануччи-Узиелли М.-Л., Будилов А.В., Берешева А.К., Новиков П.В., Юров Ю.Б. Эпигенетические исследования синдрома Ретта как адекватной модели аутистических расстройств. Журнал неврологии и психиатрии им. С. С. Корсакова. 2005 б. 105 (7): 4-11.

27. Юров И.Ю., Ворсанова С.Г., Юров Ю.Б. Современные достижения в молекулярно-цитогенетической диагностике наследственных болезней. Клиническая лабораторная диагностика. 2005 в. 11: 21-29.

28. Юров И.Ю., Ворсанова С.Г., Воинова-Улас В.Ю., Новиков П.В., Юров  Ю.Б. Комплексный клинико-генетический подход к диагностике синдрома Ретта у детей. Вопросы современной педиатрии. 2007. 6 (4): 38-43.

29. Юров И.Ю., Ворсанова С.Г., Куринная О.С., Сильванович А.П., Юров Ю.Б. Генетические аспекты психологических и поведенческих нарушений у детей с аутистическими расстройствами и трудностями в обучении: диагностика с использованием ДНК-микрочипов. Современные проблемы науки и образования. 2012. 3: URL: http://www.science-education.ru/ru/article/view?id=6449.

30. Юров И.Ю., Ворсанова С.Г., Юров Ю.Б. Трансляционные молекулярно-генетические исследования аутизма. Психиатрия. 2013. 57 (1): 51-57.

31. Юров И.Ю. Ворсанова С.Г., Юров Ю.Б. Геномные и хромосомные болезни центральной нервной системы: молекулярные и цитогенетические аспекты. М.: Медпрактика-М, 2014. – 384 с.

32. Юров И.Ю., Ворсанова С.Г., Зеленова М.А., Васин К.С., Юров Ю.Б. Биоинформатическая технология оценки функциональных последствий геномных вариаций. Фундаментальные исследования. 2015. 2-19: URL: http://fundamental-research.ru/ru/article/view?id=37931.

33. Юров Ю.Б., Хазатский И.А., Акиндинов В.А., Довгилов В., Кобринский Б.А., Ворсанова С.Г. Разработка оригинальной программы FISHMet: использование для молекулярно-цитогенетической диагностики и картирования генома с помощью флюоресцентной гибридизации in situ (FISH). Клиническая лабораторная диагностика. 2000. 8: 34-36.

34. Юров Ю.Б., Ворсанова С.Г. Молекулярно-цитогенетические исследования хромосомных аномалий и нарушений при нервно-психических заболеваниях: поиск биологических маркеров для диагностики. Вестник Российской Академии медицинских наук. 2001. 7: 26-31.

35. Adegbola A.A., Gonzales M.L., Chess A., LaSalle J.M., Cox G.F.
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet. 2009. 124 (6): 615-623.

36. Allen E.G., Sullivan A.K., Marcus M., Small C., Dominguez C., Epstein M.P., Charen K., He W., Taylor K.C., Sherman S.L. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod. 2007. 22(8): 2142–2152.

37. Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2. Nat Genet. 1999. 23 (2): 185-188.

38. Ardelean D., Pope E. Incontinentia pigmenti in boys: a series and review of the literature. Pediatr Dermatol. 2006. 23: 523–527.

39. Auranen M., Vanhala R., Vosman M., Levander M., Varilo T., Hietala M., Riikonen R., Peltonen L., Jarvela I. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology. 2001. 13 (56): 611-617.

40. Bao X., Jiang S., Song F., Pan H., Li M., Wu X.R. X Chromosome inactivation in Rett syndrome and its correlations with MECP2 mutations and phenotype. J Child Neurol. 2008. 23 (1): 22-5.

41. Bardoni B., Schenck A., Mandel J. L. The Fragile X mental retardation protein. Brain Res Bull. 2001. 56: 375-382.

42. Bauters M., Van Esch H., Friez M.J., Boespflug-Tanguy O., Zenker M., Vianna-Morgante A.M., Rosenberg C., Ignatius J., Raynaud M., Hollanders K., Govaerts K., Vandenreijt K., Niel F., Blanc P., Stevenson R.E., Fryns J.P., Marynen P., Schwartz C.E., Froyen G. Nonrecurrent MECP2 duplications mediated by genomic architecture driven DNA breaks and break-induced replication repair. Genome Res. 2008а. 18: 847–858.

43. Bauters M., Weuts A., Vandewalle J., Nevelsteen J., Marynen P., Van Esch H., Froyen G. Detection and validation of copy number variation
in X-linked mental retardation. Cytogenet Genome Res. 2008б. 123: 44–53.

44. Bebbington A., Anderson A., Ravine D., Fyfe S., Pineda M., de Klerk N.,
Ben-Zeev B., Yatawara N., Percy A., Kaufmann W.E., Leonard H. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008. 70 (11): 868-875.

45. Bell M.V., Hirst M.C., Nakahori Y., MacKinnon R.N., Roche A., Flint T.J., Jacobs P.A., Tommerup N., Tranebjaerg L., Froster-Iskenius U., Kerr B., Turner G., Lindenbaum R.H., Winter R., Prembrey M., Thibodeau S., Davies K.E. Physical mapping acrossthe fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell. 1991. 64: 861–866.

46. Belligni E.F., Palmer R.W., Hennekam R.C.M. MECP2 duplication in a patient with congenital central hypoventilation. Am J Med Genet. 2010. 152A: 1591-1593.

47. Bernardini L., Alesi V., Loddo S., Novelli A., Bottillo I., Battaglia A., Digilio M.C., Zampino G., Ertel A., Fortina P., Surrey S., Dallapiccola B. High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Eur J Hum Genet. 2010. 18: 178-185.

48. Berry-Kravis E., Potanos K., Weinberg D., Zhou L., Goetz C.G. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol. 2005. 57 (1): 144-7.

49. Bhat S.S., Schmidt K.R., Ladd S., Kim K.C., Schwartz C.E., Simensen R.J., DuPont B.R., Stevenson R.E., Srivastava A.K. Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. Cytogenet Genome Res. 2006. 112 (1-2): 170-175.

50. Biancalana V., Beldjord C., Taillandier A., Szpiro-Tapia S., Cusin V., Gerson  F., Philippe C., Mandel J.L. Five years of molecular diagnosis of Fragile X syndrome (1997–2001): a collaborative study reporting 95 % of the activity in France. Am J Med Genet A. 2004. 129A (3): 218-224.

51. Bicocchi M.P., Migeon B.R., Pasino M., Lanza T., Bottini F., Boeri E., Molinari A.C., Corsolini F., Morerio C., Acquila M. Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A. Eur J Hum Genet. 2005. 13(5): 635-40.

52. Blaschke R.J., Rappold G. The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev. 2006. 16 (3): 233-239.

53. Bodega B., Bione S., Dalprà L., Toniolo D., Ornaghi F., Vegetti W., Ginelli E., Marozzi A. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Human Reproduction. 2006. 21(4): 952–957.

54. Bonnet C., Gregoire M.J., Brochet K., Raffo E., Leheup B., Jonveaux P. Pure de novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization. J Hum Genet. 2006. 51: 815–821.

55. Bourdon V., Philippe C., Martin D., Verloes A., Grandemenge A., Jonveaux P. MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. J Mol Diagn. 2003. 7: 3-7.

56. Bourgeois J.A., Coffey S.M., Rivera S.M., Hessl D., Gane L.W., Tassone  F., Greco C., Finucane B., Nelson L., Berry-Kravis E., Grigsby J., Hagerman P.J., Hagerman R.J. Fragile X premutation disorders – expanding the psychiatric perspective. J clin psychiatry. 2009. 70 (6): 852-862.

57. Breman A.M., Ramocki M.B., Kang S.H., Williams M., Freedenberg D., Patel A., Bader P.I., Cheung S.W. MECP2 duplications in six patients with complex sex chromosome rearrangements. Eur J Hum Genet. 2011. 19 (4): 409-415.

58. Bretherick K.L., Fluker M.R., Robinson W.P. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet. 2005. 117 (4): 376-382.

59. Brouwer J.R., Willemsen R., Oostra B.A. The FMR1 gene and Fragile X-Associated Tremor/Ataxia Syndrome. Am J Med Genet B Neuropsychiatr Genet. 2009. 150B(6): 782-98.

60. Budny B., Chen W., Omran H., Fliegauf M., Tzschach A., Wisniewska M., Jensen L.R., Raynaud M., Shoichet S.A., Badura M., Lenzner S., Latos-Bielenska A., Ropers H.H. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet. 2006. 120 (2): 171-178.

61. Butler M.G., Theodoro M.F., Bittel D.C., Kuipers P.J., Driscoll D.J., Talebizadeh Z. X-chromosome inactivation patterns in females with Prader-Willi syndrome. Am J Med Genet. 2007. 143 (5): 469-475.

62. Carney R.M., Wolpert C.M., Ravan S.A., Shahbazian M., Ashley-Koch A., Cuccaro M.L., Vance J.M., Pericak-Vance M.A. Idenjpgication of MЕCP2 mutations in a series of females with autistic disorder. Pediatr Neurol. 2003. 28(3):205-211.

63. Castrén M., Gaily E., Tengström C., Lähdetie J., Archer H., Ala-Mello S. Epilepsy caused by CDKL5 mutations. Eur J Paediatr Neurol. 2011. 15 (1): 65-69.

64. Chabchoub G., Uz E., Maalej A., Mustafa C.A., Rebai A., Mnif M., Bahloul Z., Farid N.R., Ozcelik T., Ayadi H. Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases. Arthritis Res Ther. 2009. 11(4): R106.

65. Chahrour M., Jung S.Y., Shaw C., Zhou X., Wong S.T., Qin J., Zoghbi H.Y. MECP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008. 320 (5880): 1224-1229.

66. Chapleau C.A., Lane J., Larimore J., Li W., Pozzo-Miller L., Percy A.K. Recent Progress in Rett Syndrome and MECP2 Dysfunction: Assessment of Potential Treatment Options. Future Neurol. 2013. 8(1): doi: 10.2217/fnl.12.79.

67. Cheadle J.P., Gill H., Fleming N., Maynard J., Kerr A., Leonard  H., Krawczak M., Cooper D.N., Lynch S., Thomas N., Hughes H., Hulten M., Ravine D., Sampson J.R., Clarke A. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet. 2000. 9(7):1119-1129.

68. Chelly J., Mandel J.L. Monogenic causes of X-linked mental retardation. Nat Rev Genet. 2001. 2 (9): 669-680.

69. Chelly J., Khelfaoui M., Francis F., Chérif B., Bienvenu T. Genetics and pathophysiology of mental retardation. Eur J Hum Genet. 2006. 14 (6): 701-713.

70. Cheval H., Guy J., Merusi C., De Sousa D., Selfridge J., Bird A. Postnatal inactivation reveals enhanced requirement for MECP2 at distinct age windows. Hum Mol Genet. 2012. 21 (17): 3806-3814.

71. Chiurazzi P., Tabolacci E., Neri G. X-linked mental retardation (XLMR): from clinical conditions to cloned genes. Critical Reviews in Clinical Laboratory Services. 2004. 41: 117–158.

72. Chiurazzi P., Schwartz C.E., Gecz J., Neri G. XLMR genes: update 2007. Eur J Hum Genet. 2008. 16: 422–434.

73. Chocholska S., Rossier E., Barbi G., Kehrer-Sawatzki H. Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2–22.3 with a highly variable phenotype in female carriers. Am J Med Genet. 2006. 140: 604–610.

74. Chonchaiya W., Schneider A., Hagerman R.J. Fragile X: a family of disorders. Adv Pediatr. 2009. 56:165-186.

75. Chow J., Heard E. X inactivation and the complexities of silencing a sex chromosome. Curr Opin Cell Biol. 2009. 21(3): 359-366

76. Coffey S.M., Cook K., Tartaglia N., Tassone F., Nguyen D.V., Pan  R., Bronsky H.E., Yuhas J., Borodyanskaya M., Grigsby J., Doerflinger M., Hagerman P.J., Hagerman R.J. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet. 2008. 146 (8): 1009-1016.

77. Coffee B., Keith K., Albizua I., Malone T., Mowrey J., Sherman  S.L., Warren S.T. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009. 85 (4): 503-514.

78. Cohen D., Lazar G., Couvert P., Desportes V., Lippe D., Mazet P., Héron D. MECP2 mutation in a boy with language disorder and schizophrenia. Am J Psychiatry. 2002. 159 (1): 148-149.

79. Colvin L., Leonard H., de Klerk N., Davis M., Weaving L., Williamson S., Christodoulou J. Refining the phenotype of common mutations in Rett syndrome. Med Genet. 2004. 41 (1): 25-30.

80. Croen L.A., Grether J.K., Selvin S. The epidemiology of mental retardation of unknown cause. Pediatrics. 2001. 107 (6): E86.

81. de Brouwer A.P., Yntema H.G., Kleefstra T., Lugtenberg D., Oudakker A.R., de Vries B.B., van Bokhoven H., Van Esch H., Frints S.G., Froyen G., Fryns J.P., Raynaud M., Moizard M.P., Ronce N., Bensalem A., Moraine C., Poirier K., Castelnau L., Saillour Y., Bienvenu T., Beldjord C., des Portes V., Chelly J., Turner G., Fullston T., Gecz J., Kuss A.W., Tzschach  A., Jensen L.R., Lenzner S., Kalscheuer V.M., Ropers H.H., Hamel B.C. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mut. 2007. 28: 207–208.

82. de Vries B.B., van den Ouweland A.M., Mohkamsing S., Duivenvoorden H.J., Mol E., Gelsema K., van Rijn M., Halley D.J., Sandkuijl L.A., Oostra B.A., Tibben A., Niermeijer M.F. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Am J Hum Genet. 1997. 61 (3): 660-667.

83. del Gaudio D., Fang P., Scaglia F., Ward P.A., Craigen W.J., Glaze D.G., Neul J.L., Patel A., Lee J.A., Irons M., Berry S.A., Pursley A.A., Grebe T.A., Freedenberg D., Martin R.A., Hsich G.E., Khera J.R., Friedman N.R., Zoghbi H.Y., Eng C.M., Lupski J.R., Beaudet A.L., Cheung S.W., Roa B.B. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006. 8 (12): 784-792.

84. Depienne C., Bouteiller D., Keren B., Cheuret E., Poirier K., Trouillard O., Benyahia B., Quelin C., Carpentier W., Julia S., Afenjar A., Gautier A, Rivier F., Meyer S., Berquin P., Hélias M., Py I., Rivera S., Bahi-Buisson N., Gourfinkel-An I., Cazeneuve C., Ruberg M., Brice A., Nabbout R., Leguern E. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009. 5: e1000381.

85. Dibbens L.M., Tarpey P.S., Hynes K., Bayly M.A.., Scheffer I.E., Smith R., Bomar J., Sutton E., Vandeleur L., Shoubridge C., Edkins S., Turner S.J., Stevens C., O’Meara S., Tofts C., Barthorpe S., Buck G., Cole J., Halliday K., Jones D., Lee R., Madison M., Mironenko T., Varian J., West S., Widaa S., Wray P., Teague J., Dicks E., Butler A. Menzies A., Jenkinson A., Shepherd R., Gusella J.F., Afawi Z., Mazarib A., Neufeld M.Y., Kivity S., Lev  D.,
Lerman-Sagie T., Korczyn A.D., Derry C.P., Sutherland G.R., Friend  K., Shaw M., Corbett M., Kim H.G., Geschwind D.H., Thomas P., Haan E., Ryan S., McKee S., Berkovic S.F., Futreal P.A., Stratton M.R., Mulley J.C., Gécz J. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008. 40: 776–781.

86. Dobyns W.B. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Pediatr. 2006. 451: S11-S15.

87. Eble T.N., Sutton V.R., Sangi-Hahjpeykar H., Wang X., Jin W., Lewis R.A., Fang P., Van den Veyver I. B. Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet. 2009. 125 (2): 211-216.

88. Fernandez-Carvajal I., Lopez Posadas B., Pan R., Raske C., Hagerman P.J., Tassone F. Expansion of an FMR1 Grey-Zone Allele to a Full Mutation in Two Generations. J Mol Diagn. 2009. 11 (4): 306-310.

89. Fieremans N., Bauters M., Belet S., Verbeeck J., Jansen A.C., Seneca S., Roelens F., De Baere E., Marynen P., Froyen G. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation. Hum Genet. 2014. 133 (11): 1359-67.

90. Fishburn J., Turner G., Daniel A., Brookwell R. The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers. Am J Med Genet. 1983. 14: 713-724.

91. Fitch N., Jequier S., Gorlin R. The oto-palato-digital syndrome, proposed type II. Am J Med Genet. 1983. 15: 655-664.

92. Friez M.J., Jones J.R., Clarkson K., Lubs H., Abuelo D., Bier J.A., Pai S., Simensen R., Williams C., Giampietro P.F., Schwartz C.E., Stevenson R.E. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics. 2006. 118(6):e1687-95.

93. Froyen G., Van Esch H., Bauters M., Hollanders K., Frints S.G., Vermeesch J.R., Devriendt K., Fryns J.P., Marynen P. Detection of genomic copy number changes in patients with idiopathic mental retardation by High-Resolution X-Array-CGH: important role for increased gene dosage of XLMR genes. Hum Mut. 2007. 28: 1042–1043.

94. Froyen G., Corbett M., Vandewalle J., Jarvela I., Lawrence O., Meldrum  C., Bauters M., Govaerts K., Vandeleur L., Van Esch H., Chelly J., Sanlaville D., van Bokhoven H., Ropers H.H., Laumonnier F., Ranieri E., Schwartz C.E., Abidi F., Tarpey  P.S., Futreal P.A., Whibley A., Raymond F.L., Stratton M.R., Fryns J.P., Scott  R., Peippo M., Sipponen M., Partington M., Mowat D., Field M., Hackett A., Marynen P., Turner G., Gécz J. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Am J Hum Genet. 2008. 82(2):432-443.

95. Fusco F., Bardaro T., Fimiani G., Mercadante V., Miano M.G., Falco G., Israël A., Courtois G., D’Urso M., Ursini M.V. Molecular analysis of the genetic defect in a large cohort of IP patients and idenjpgication of novel NEMO mutations interfering with NF-kappa B activation. Hum Mol Genet. 2004.13:1763–1773.

96. Garber K.B., Visootsak J., Warren S.T. Fragile X syndrome. Eur J Hum Genet. 2008. 16 (6): 666-672.

97. Gecz J., Shouridge C., Corbett M. The genetic landscape of intellectual disability arising from hromosome X. Trends Genet. 2009, 25: 308-316.

98. Gilfillan G.D., Selmer K.K., Roxrud I., Smith R., Kyllerman M., Eiklid K., Kroken M., Mattingsdal M., Egeland T., Stenmark H., Sjøholm  H., Server A., Samuelsson L., Christianson A., Tarpey P., Whibley A., Stratton M.R., Futreal P.A., Teague J., Edkins S., Gecz J., Turner G., Raymond F.L., Schwartz C., Stevenson R.E., Undlien D.E., Strømme P. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet. 2008. 82 (4): 1003-1010.

99. Giorda R., Bonaglia M.C., Beri S., Fichera M., Novara F., Magini P., Urquhart J., Sharkey F.H., Zucca C., Grasso R., Marelli S., Castiglia L.,
Di Benedetto D., Musumeci S.A., Vitello G.A., Failla P., Reitano S., Avola E., Bisulli F., Tinuper P., Mastrangelo M., Fiocchi I., Spaccini L., Torniero C., Fontana E., Lynch S.A., Clayton-Smith J., Black G., Jonveaux P., Leheup B., Seri M., Romano C., dalla Bernardina B., Zuffardi O. Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Am J Hum Genet. 2009. 85(3):394-400.

100. Glaze D.G., Percy A.K., Skinner S., Motil K.J., Neul J.L., Barrish J.O., Lane J.B., Geerts S.P., Annese F., Graham J., McNair L., Lee H.S. Epilepsy and the natural history of Rett syndrome. Neurology. 2010. 74 (11): 909-912.

101. Gokden M., Al-Hinti J.T., Harik S.I. Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS). Neuropathology. 2009. 29 (3): 280-284.

102. Goltz R.W., Peterson W.C., Gorlin R.J., Ravits H.G. Focal dermal hypoplasia. Arch Dermatol. 1962. 86: 708-717.

103. Gonzales M.L., LaSalle J.M. The role of MECP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010. 12 (2): 127-134.

104. Hagberg B., Hagberg G. Rett syndrome: Epidemiology and geographical variability. Eur Child Adolesc Psychiatry. 1997. 6 (Suppl): 5-7.

105. Hagberg B., Hanefeld F., Percy A., Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett syndrome clinical criteria consensus panel satellite to European paediatric neurology society meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol. 2002. 66: 293–297.

106. Hagerman P.J., Hagerman R.J. The fragile-X premutation: a maturing perspective. Am J Hum Genet. 2004. 74 (5): 805-816.

107. Hagerman P.J. The fragile X prevalence paradox. J Med Genet. 2008. 45 (8): 498–499.

108. Happle R. X-chromosome inactivation: role in skin disease expression. Acta Paediatr. 2006. Suppl 95:16–23.

109. Haque F.N., Gottesman I.I., Wong A.H. Not really identical: epigenetic differences in monozygotic twins and implications for twin studies in psychiatry. Am J Med Genet. Part C. Semin Med Genet. 2009. 151C (2):136-141.

110. Hardwick S.A., Reuter K., Williamson S.L., Vasudevan V., Donald J., Slater K., Bennetts B., Bebbington A., Leonard H., Williams S.R., Smith R.L., Cloosterman D., Christodoulou J. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet. 2007. 15: 1218–1229.

111. Hatakeyama C., Anderson C.L., Beever C.L., Peñaherrera M.S., Brown C.J., Robinson W.P. The dynamics of X-inactivation skewing as women age. Clin Genet. 2004. 66(4):327-32.

112. Herbst D.S., Miller J.R. Nonspecific X-linked mental retardation II: the frequency in British Columbia. Am J Med Genet. 1980. 7: 461–469.

113. Higgins J.J., Topaloglu H. X-linked oligophrenic vermian dysgenesis: syndromic vs non-syndromic X-linked mental retardation? Neurology. 2005. 65: 1346–1347.

114. Hoffbuhr K., Devaney J.M., LaFleur B., Sirianni N., Scacheri C., Giron J., Schuette J., Innis J., Marino M., Philippart M., Narayanan V., Umansky R., Kronn D., Hoffman E.P., Naidu S. MECP2 mutations in children with and without the phenotype of Rett syndrome. Neurology. 2001. 56 (11): 1486-1495.

115. Honda S., Hayashi S., Kato M., Niida Y., Hayasaka K., Okuyama T., Imoto I., Mizutani S., Inazawa J. Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene. Am J Med Genet. 2007. 143 (7): 687-693.

116. Horn D. Mild to moderate intellectual disability and signifi cant speech and language deficits in patients with FOXP1 deletions and mutations. Mol Syndromol. 2012. 2 (3–5): 213–216.

117. Hu H., Wrogemann K., Kalscheuer V., Tzschach A., Richard H., Haas S. A., Menzel C., Bienek M., Froyen G., Raynaud M., Van Bokhoven H., Chelly J., Ropers H., Chen W. Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. HUGO J. 2009. 3: 41–49.

118. Huppke P., Laccone F., Krämer N., Engel W., Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet. 2000. 9 (9): 1369-1375.

119. Harrison C.J., Jack E.M., Allen T.D., Harris R. The fragile X:
A scanning electron microscope study. J Med Genet. 1983. 20: 280–285.

120. Iitsuka Y., Bock A., Nguyen D.D., Samango-Sprouse C.A., Simpson  J.L., Bischoff F.Z. Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients. Am J Med Genet. 2001. 98(1):25-31.

121. Iourov I.Y., Vorsanova S.G., Yurov Y.B. Molecular cytogenetics and cytogenomics of brain diseases. Curr Genomics. 2008а. 9(7): 452-465.

122. Iourov I.Y., Vorsanova S.G., Yurov Y.B. Recent patents on molecular cytogenetics. Recent Pat DNA Gene Seq. 2008б. 2(1): 6-15.

123. Iourov I.Y., Vorsanova S.G., Yurov Y.B. Chromosomal mosaicism goes global. Mol Cytogenet. 2008в. 25(1): 26.

124. Iourov I.Y., Yurov Y.B., Vorsanova S.G. Mosaic X chromosome aneuploidy can help to explain the male-to-female ratio in autism. Med Hypotheses. 2008г. 70(2): 456.

125. Iourov I.Y., Vorsanova S.G., Yurov Y.B. Somatic genome variations in health and disease. Curr Genomics. 2010. 11 (6): 387-396.

126. Iourov I.Y., Vorsanova S.G., Kurinnaia O.S., Zelenova M.A., Silvanovich A.P., Yurov Y.B. Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Mol Cytogenet. 2012. 5: 46. doi: 10.1186/1755-8166-5-46.

127. Iourov I.Y., Vorsanova S.G., Voinova V.Y., Kurinnaia O.S., Zelenova M.A., Demidova I.A., Yurov Y.B. Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Mol Cytogenet. 2013. 6 (1): 53. doi: 10.1186/1755-8166-6-53.

128. Iourov I.Y., Vorsanova S.G., Yurov Y.B. In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research. Mol Cytogenet. 2014. 7 (1): 98. doi: 10.1186/s13039-014-0098-z.

129. Iourov I.Y., Vorsanova S.G., Korostelev S.A., Zelenova M.A., Yurov Y.B. Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy. Mol Cytogenet. 2015а. 8:77. doi: 10.1186/s13039-015-0182-z. 

130. Iourov I.Y., Vorsanova S.G., Voinova V.Y., Yurov Y.B. 3p22.1p21.31 microdeletion idenjpgies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances. Mol Cytogenet. 2015б. 8: 82. doi: 10.1186/s13039-015-0185-9.

131. Iourov I.Y. Post genomics: towards a personalized approach to chromosome abnormalities. J Down Syndr Chr Abnorm. 2016. 2: e104. doi: 10.4172/jdsca.1000e104.

132. Jones P.L., Veenstra G.J., Wade P.A., Vermaak D., Kass S.U., Lamdsberger N., Strouboulos J., Wolffe A. Methylated DNA and MECP2 recruit histone deacetylase to repress transcription. Nat Genet. 1998. 19: 187-191.

133. Karim S.A., Barrie J.A., McCulloch M.C., Montague P., Edgar J.M., Kirkham D., Anderson T.J., Nave K.A., Griffiths I.R., McLaughlin M. PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease. Glia. 2007. 55: 341– 351.

134. Kerr B., Turner G., Mulley J., Gedeon A., Partington M. Non-specific mental retardation. J Med Genet. 1991. 28: 378–82.

135. Kеrr A.M., Nomura Y., Armstrong D., Anvret M., Belichenko P., Budden S., Cass H., Christodoulou J., Ckarke A., Ellaway C., d’Esposito M., Francke U., Hulten M., Julu P., Leonard H., Naidu S., Schanen C., Webb T., Engerstrom I.W., Yamashita Y., Segawa M. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev. 2001. 23 (4): 208-211.

136. Khandjian E. W. Biology of the fragile X mental retardation protein, an RNA-binding protein. Biochem Cell Biol.1999. 77: 331-42.

137. Kirchman T.T.T., Levy M.L., Lewis R.A., Kanzler M.H., Nelson D.L., Scheuerle A.E. Gonadal mosaicism for incontinentia pigmenti in a healthy male. J Med Genet. 1995. 32: 887-890. 

138. Kirk E.P.E., Fletcher J.M., Sharp P., Carey B., Poulos A. X-linked adrenoleukodystrophy: the Australasian experience. Am J Med Genet. 1998. 76: 420-423.

139. Kleefstra T., Hamel B.C.J. X-linked mental retardation: further lumping, splitting and emerging phenotypes. Clin Genet. 2005. 67: 451–467.

140. Ko С.J., Antaya R.J., Zubek A., Craiglow B., Damsky W., Galan A., McNiff J.M., Revisiting histopathologic findings in Goltz syndrome. J Cutan Pathol. 2016. 43:418-21.

141. Kremer E.J., Pritchard M., Lynch M., Yu S., Holman K., Baker E., Warren S.T., Schlessinger D., Sutherland G.R., Richards R.I. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science. 1991. 252 (5013): 1711-1714.

142. Kroner B.L., Preiss L.R., Ardini M.A., Gaillard W.D. New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. J Child Neurol. 2008. 23: 531–5.

143. Kumari D., Swaroop M., Southall N., Huang W., Zheng W., Usdin K. High-throughput screening to idenjpgy compounds that increase fragile X mental retardation protein expression in neural stem cells differentiated from fragile X syndrome patient-derived induced pluripotent stem cells. Stem cells transl med. 2015. 4: 800-808.

144. Laccone F., Zoll B., Huppke P., Hanefeld F., Pepinski W., Trappe R. MECP2 nucleotide changes and their pathogenicity in males: proceed with caution. J Med Genet. 2002. 39: 586-588.

145. Landy S.J., Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993. 30 (1): 53-59.

146. Laperuta C., Spizzichino L., D’Adamo P., Monfregola J., Maiorino A., D’Eustacchio A., Ventruto V., Neri G., D’Urso M., Chiurazzi P., Ursini M.V., Miano M.G. MRX87 family with aristaless X dup24bp
mutation and implication for polyalanine expansions. BMC Med Genet. 2007. 8: 25.

147. Lawson-Yuen A., Saldivar J.S., Sommer S., Picker J. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet. 2008.16: 614–618.

148. Lenz W. Half chromatid mutations may explain incontinentia pigmenti in males (Letter). Am J Hum Genet. 1975. 27: 690.

149. Leonard H., Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disab Res Rev. 2002. 8: 117–134.

150. Leoyklang P., Suphapeetiporn K., Wananukul S., Shotelersuk V. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.Clin Genet. 2008. 73: 373-379.

151. Lin H.Y., Lin S.P., Chuang C.K., Niu D.M., Chen M.R., Tsai F.J., Chao M.C., Chiu P.C., Lin S.J., Tsai L.P., Hwu W.L., Lin J.L. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet. 2009. 149A: 960-964.

152. Loat C.S., Curran S., Lewis C.M., Duvall J., Geschwind D., Bolton P., Craig I.W. Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism. Genes Brain Behav. 2008. 7 (7): 754-760.

153. Lombardi M.P., Bulk S., Celli J., Lampe A., Gabbett M.T., Ousager L.B., van der Smagt J.J., Soller M., Stattin E.L., Mannens M.A., Smigel R., Hennecam R.C. Pathogenik variant update for the PORCN gene. Hum Mutat. 2011. 32: 723-728.

154. Lubs H.A., Stevenson R.A., Schwartz C.E. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet. 2012. 90: 579–590.

155. Lugtenberg D., de Brouwer A.P., Kleefstra T., Oudakker A.R., Frints S.G., Schrander-Stumpel C.T., Fryns J.P., Jensen L.R., Chelly J., Moraine C., Turner G., Veltman J.A., Hamel B.C., de Vries B.B., van Bokhoven H., Yntema H.G. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet. 2006. 43(4):362-370.

156. Lugtenberg D., Kleefstra T., Oudakker A.R., Nillesen W.M., Yntema H.G., Tzschach A., Raynaud M., Rating D., Journel H., Chelly  J., Goizet C., Lacombe D., Pedespan J.M., Echenne B., Tariverdian G., O’Rourke D., King M.D., Green A., van Kogelenberg M., Van Esch H., Gecz J., Hamel B.C., van Bokhoven H., de Brouwer A.P. Structural variation in Xq28: MECP2 duplications in 1 % of patients with unexplained XLMR and in 2 % of male patients with severe encephalopathy. Eur J Hum Genet. 2009. 17 (4): 444-453.

157. Lynch S.A., Whatley S.D., Ramesh V., Sinha S. Ravine D. Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M mutation in MECP2. Arch Dis Child Fetal Neonatal Ed. 2003. 88: 250-252.

158. Lyon M.F. Gene action in the X-chromosome of the mouse (Mus musculus). Nature. 1961.190: 372-373.

159. Macarov M., Zeigler M., Newman J.P., Strich D., Sury V., Tennenbaum A., Meiner V. Deletions of VCX-A and NLGN4 : a variable phenotype including normal intellect. J Intellect Disabil Res. 2007. 5 1(5): 329-333.

160. Madrigal I., Rodríguez-Revenga L., Armengol L., González E., Rodriguez B., Badenas C., Sánchez A., Martínez F., Guitart M., Fernández I., Arranz J.A., Tejada M., Pérez-Jurado L.A., Estivill X., Milà M. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics. 2007. 8: 443.

161. Maes B., Fryns J.P., Ghesquière P., Borghgraef M. Phenotypic checklist to screen for fragile X syndrome in people with mental retardation. Ment Retard. 2000. 38 (3): 207-215.

162. Maezawa I., Swanberg S., Harvey D., LaSalle J.M., Jin L.W. Rett syndrome astrocytes are abnormal and spread Mecp2 deficiency through gap junctions. J Neurosci. 2009. 29 (16): 5051-5061.

163. Mandel J.L., Biancalana V. Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues. Growth Hormone & IGF Research. 2004. 14:158–165.

164. Marques Pereira P., Heron D., Hanauer A. The first large duplication of the RSK2 gene idenjpgied in a Coffin-Lowry syndrome patient. Hum Genet. 2007.122: 541–543.

165. Marques Pereira P., Schneider A., Pannetier S., Heron D., Hanauer A. Coffin-Lowry syndrome. Europ J Hum Genet. 2010.18: 627-633.

166. Martin J.P., Bell J. A pedigree of mental defect showing sex-linkage.
J Neurol Psychiatry. 1943. 6: 154–157.

167. McConkie-Rosell A., Finucane B., Cronister A., Abrams L., Bennett R.L., Pettersen B.J. Genetic counseling for fragile X syndrome: updated recommendations of the national society of genetic counselors. J Genet Couns. 2005. 14: 249– 270.

168. McConkie-Rosell A., Abrams L., Finucane B., Cronister A., Gane L.W., Coffey S.M., Sherman S., Nelson L.M., Berry-Kravis E., Hessl D., Chiu S., Street N., Vatave A., Hagerman R.J. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns. 2007. 16(5): 593-606.

169. Migeon B.R. Females are mosaics. X inactivation and Sex Differences in Disease. – Oxford university press, 2007. – 271 p.

170. Migeon B.R. X inactivation, female mosaicism, and sex differences in renal diseases. J Am Soc Nephrol. 2008. 19 (11): 2052-2059.

171. Mimault C., Giraud G., Courtois V., Cailloux F., Boire J.Y., Dastugue B., Boespflug-Tanguy O. Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. Am J Hum Genet. 1999. 65(2):360-369.

172. Molinari F., Foulquier F., Tarpey P.S., Morelle W., Boissel S., Teague J., Edkins S., Futreal P.A., Stratton M.R., Turner G., Matthijs G., Gecz J., Munnich A., Colleaux L. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet. 2008. 82(5):1150-1157.

173. Monnerat L.S., Moreira A.D.S., Alves M.C.V., Bonvicino C.R., Vargas F.R. Idenjpgication and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. Brain Develop. 2010. 32: 843-848.

174. Motil K.J., Schultz R.J., Abrams S., Ellis K.J., Glaze D.G. Fractional calcium absorption is increased in girls with Rett syndrome. J Pediatr Gastroenterol Nutr. 2006. 42 (4): 419-426.

175. Na E.S., Nelson E.D., Kavalali E.T., Monteggia L.M. The impact of MECP2 loss- or gain-of-function on synaptic plasticity. Neuropsychopharmacology. 2013. 38 (1): 212-219.

176. Nagarajan R.P., Hogart A.R., Gwye Y., Martin M.R., LaSalle J.M. Reduced MECP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics. 2006. 1 (4): e1-11.

177. Najm J., Horn D., Wimplinger I., Golden J.A., Chizhikov V.V., Sudi J., Christian S.L., Ullmann R., Kuechler A., Haas C.A., Flubacher A., Charnas L.R., Uyanik G., Frank U., Klopocki E., Dobyns W.B., Kutsche K. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008. 40 (9): 1065-1067.

178. Nelson J., Crowhurst J., Carey B., Greed L. Incidence of the mucopolysaccharidoses in western Australia. Am J Med Genet. 2003. 123A: 310-313.

179. Nemos C., Lambert L., Giuliano F., Doray B., Roubertie A., Goldenberg A., Delobel B., Layet V., N’guyen M.A., Saunier A., Verneau  F., Jonveaux P., Philippe C. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clin Genet. 2009. 76 (4): 357-71.

180. Neri G., Opitz J.M. Sixty years of X-linked mental retardation: A historical footnote. Am J Med Genet. 2000. 97: 228–233.

181. Neul J.L., Fang P., Barrish J., Lane J., Caeg E.B., Smith E.O., Zoghbi  H., Percy  A., Glaze D.G. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008. 70 (16): 1313-1321.

182. Neul J.L. The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues Clin Neurosci. 2012. 14(3): 253-262.

183. Nguyen D.K., Disteche C.M. Dosage compensation of the active X chromosome in mammals. Nat Genet. 2006. 38 (1): 47-53.

184. Novara F., Simonati A., Sicca F., Battini R., Fiori S., Contaldo A., Criscuolo L., Zuffardi O., Ciccone R. MECP2 duplication phenotype in symptomatic females: report of three further cases. Mol Cytogenet. 2014. 7 (1): 10.
doi: 10.1186/1755-8166-7-10.

185. Ohno S. Sex Chromosomes and Sex-Linked Genes. Berlin, New York: Springer-Verlag, 1967. – 192 p.

186. Opitz J.M., Kaveggia E.G. Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilkd. 1974. 117: 1–18.

187. Opitz J.M., Smith G.F., Santoro L. The FG syndromes (OMIM 305450) perspective in 2008. Adv Pediatr. 2008. 55: 123-170.

188. Oostra B.A., Willemsen R. FMR1: a gene with three faces. Biochim Biophys Acta. 2009. 1790 (6): 467-477.

189. Orrico A., Lam C., Galli L., Dotti M.T., Hayek G., Tong S.F., Poon P.M., Zappella M., Federico A., Sorrentino V. MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett. 2000. 22 (481): 285-288

190. Ørstavik K.H. X chromosome inactivation in clinical practice. Hum Genet. 2009. 126(3): 363-73.

191. Ozbalkan Z., Bagişlar S., Kiraz S., Akyerli C.B., Ozer H.T., Yavuz S., Birlik A.M., Calgüneri M., Ozçelik T. Skewed X chromosome inactivation in blood cells of women with scleroderma. Arthritis Rheum. 2005. 52 (5): 1564-1570.

192. Parrish J. E., Scheuerle A. E., Lewis R. A., Levy M. L., Nelson D. L. Selection against mutant alleles in blood leukocytes is a consistent feature in incontinentia pigmenti type 2. Hum Molec Genet. 1996. 5: 1777-1783. 

193. Payer B., Lee J.T. X chromosome dosage compensation: how mammals keep the balance. Annu Rev Genet. 2008. 42:733-772.

194. Pembrey M.E., Barnicoat A.J., Carmichael B., Bobrow M., Turner G. An assessment of screening strategies for fragile X syndrome in the UK. Health Technol Assess. 2001. 5 (7): 1-95.

195.  Penrose L. A clinical study and genetic study of 1280 cases of mental defect. Special Report Series of Medical Research Council. 1938. 229: 1–79.

196. Percy A. Rett syndrome: from recognition to diagnosis to intervention. Expert Rev Endocrinol Metab. 2008. 3: 327-336.

197. Petazzi P., Akizu N., García A., Estarás C., Martínez de Paz A., Rodríguez-Paredes M., Martínez-Balbás M.A., Huertas D., Esteller M. An increase in MECP2 dosage impairs neural tube formation. Neurobiol Dis. 2014. 67: 49-56.

198. Pinto L.L., Vieira T.A., Giugliani R., Schwartz I.V. Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. Orphanet J Rare Dis. 2010. 28 (5): 14. doi: 10.1186/1750-1172-5-14.

199. Plenge R.M., Hendrich B.D., Schwartz C., Arena J.F., Naumova A., Sapienza C., Winter R.M., Willard H.F. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet. 1997. 17: 353–356.

200. Plenge R.M., Stevenson R.A., Lubs H.A., Schwartz C.E., Willard H.F. Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders. J Hum Genet. 2002. 71: 168-173.

201. Porteous M. E. M., Goudie D. R. Aarskog syndrome. J Med Genet. 1991. 28: 44-47.

202. Pembrey M.E., Barnicoat A.J., Carmichael B., Bobrow M., Turner G. An assessment of screening strategies for fragile X syndrome in the UK. Health Technol Assess. 2001. 5(7): 1-101.

203. Psoni S., Sofocleous C., Traeger-Synodinos J., Kitsiou-Tzeli S., Kanavakis E., Fryssira-Kanioura H. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. Pediatr Res. 2010. 67(5):551-556.

204. Puck J.M., Willard H.F. X inactivation in females with X-linked disease. N Engl J Med. 1998. 338(5):325-328.

205. Ramocki M.B., Peters S.U., Tavyev Y.J., Zhang F., Carvalho C.M., Schaaf  C.P., Richman R., Fang P., Glaze D.G., Lupski J.R., Zoghbi H.Y. Autism and other neuropsychiatric symptoms are prevalent in individuals with MECP2 duplication syndrome. Ann Neurol. 2009. 66(6): 771-782.

206. Reiss A.L., Hall S.S. Fragile X syndrome: assessment and treatment implications. Child Adolesc Psychiatr Clin North Amer. 2007. 16 (3): 663–675.

207. Rejeb I., Ben Jemaa L., Chaabouni H. X linked mental retardation. Tunis Med. 2009. 87(5): 311-318.

208. Rinčić M., Iourov I.Y., Liehr T.Thoughts about SLC16A2, TSIX and XIST gene like sites in the human genome and a potential role in cellular chromosome counting. Mol Cytogenet. 2016. 9: 56. doi: 10.1186/s13039-016-0271-7.

209. Risheg H., Graham J.M.Jr., Clark R.D., Rogers R.C., Opitz J.M., Moeschler  J.B., Peiffer A.P., May M., Joseph S.M., Jones J.R., Stevenson R.E., Schwartz C.E., Friez M.J. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nat Genet. 2007. 39:451–453.

210. Roberts J.E., Schaaf J.M., Skinner M., Wheeler A., Hooper S., Hatton D.D., Bailey D.B. Jr. Academic skills of boys with fragile X syndrome: profiles and predictors. Am J Ment Retard 2005. 10 (2): 107–120.

211. Robertson S.P., Walsh S., Oldridge M., Gunn T., Becroft D., Wilkie A.O. Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1. Am J Hum Genet. 2001. 69(1):223-227.

212. Ropers H.H., Hoeltzenbein M., Kalscheuer V., Yntema H., Hamel  B., Fryns  J.P., Chelly J., Partington M., Gecz J., Moraine C. Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet. 2003. 19: 316-20.

213. Ropers H., Hamel B. X-linked mental retardation. Nat rev genet. 2005. 6: 46-57.

214. Ropers H.H. Genetics of intellectual disability. Curr Opin Genet Dev. 2008. 18: 241-250.

215. Sakazume S., Okamoto N., Yamamoto T., Kurosawa K., Numabe H., Ohashi Y., Kako Y., Nagai T., Ohashi H. GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. Am J Med Genet. 2007. 143A: 1703.

216. Sanlaville D., Schluth-Bolard C., Turleau C. Distal Xq duplication and functional Xq disomy. Orphanet J Rare Dis. 2009. 4: 4.

217. Schanen N.C., Kurczynski T.W., Brunelle D., Woodcock M.M., Dure L.S., Percy A.K. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome. J Child Neurol. 1998. 13 (5): 229-231.

218. Schanen C., Houwink E., Dorrani N., Lane J., Everett R., Feng A., Cantor  R., Percy A. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet. 2004. 126A: 129–140.

219. Schimke R.N., Spaulding J.J., Hollowell J.G. X-linked congenital panhypopituitarism. Birth Defects Orig Artic Ser. 1971. 7 (6): 21-23.

220. Schluth C., Cossée M., Girard-Lemaire F., Carelle N., Dollfus H., Jeandidier E., Flori E. Phenotype in X chromosome rearrangements: pitfalls of X inactivation study. Pathol Biol (Paris). 2007. 55(1):29-36.

221. Schopler E., Reichler R.J., DeVellis R.F., Daly K. Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord. 1980. 10(1):91-103.

222. Shahbazian M., Zoghbi H.Y. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. 2001. 14: 171-176.

223. Sharp A., Robinson D., Jacobs P. Age- and tissue-specific variation of X-chromosome inactivation ratios in normal women. Hum Genet. 2000. 107: 343-349.

224. Sherman S.L., Jacobs P.A., Morton N.E., Froster-Iskenius U., Howard-Peebles P.N., Nielsen K.B., Partington M.W., Sutherland G.R., Turner G., Watson M. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet. 1985. 69: 289–299.

225. Sherman S., Pletcher B.A., Driscoll D.A. Fragile X syndrome: diagnostic and carrier testing. Genet Med. 2005. 7 (8): 584–587.

226. Shevell M., Ashwal S., Donley D., Flint J., Gingold M., Hirtz D., Majnemer A., Noetzel M., Sheth R.D. Quality standards subcommittee of the American Academy of Neurology. Practice committee of the child neurology society. Practice parameter: evaluation of the child 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. 2003. 60 (3):
367-380.

227. Shibayama A., Cook E.H. Jr., Feng J., Glanzmann C., Yan J., Craddock N., Jones I.R., Goldman D., Heston L.L., Sommer S.S. MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. Am J Med Genet B Neuropsychiatr Genet. 2004. 128B (1): 50-53.

228. Shimada S., Okamoto N., Ito M., Arai Y., Momosaki K., Togawa M., Maegaki  Y., Sugawara M., Shimojima K., Osawa M., Yamamoto T. MECP2 duplication syndrome in both genders. Brain Dev. 2013. 35(5): 411-419.

229. Skuse D.H. X-linked genes and mental functioning. Hum Mol Genet. 2005. 14: R27–32.

230. Solomon N.M., Ross S.A., Forrest S.M., Thomas P.Q., Morgan  T., Belsky  J.L., Hol F.A., Karnes P.S., Hopwood N.J., Myers S.E., Tan A.S., Warne G.L. Array comparative genomic hybridization analysis of boys with X-linked hypopituitarism idenjpgies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. J Med Genet. 2007. 44 (4): e75.

231. Soloviev I.V., Yurov Y.B., Vorsanova S.G., Malet P. Microwaves activation of fluorescence in situ hybridization: a novel method or rapid chromosome detection and analysis. Focus. 1994. 16 (4): 115-116.

232. Soloviev I.V., Yurov Yu.B., Vorsanova S.G., Fayet F., Roizes G., Malet  P. Prenatal diagnosis of trisomy 21 using interphase fluorescence in situ hybridization of postreplicated cells with site-specific cosmid contig probes. Prenatal Diagn. 1995а. 15: 237-248.

233. Soloviev I.V., Fayet F., Malet P., Yurov Y.B., Vorsanova S.G. Fluorescence in situ hybridization with a new approach for idenjpgication of trisomy 21 in interphases amniocytes using cosmid probes. Cytogenet Cell Genet. 1995б. 69: 1119-1201.

234. Soloviev I.V., Yurov Yu.B., Sharonin V.O., Monakhov V.V., Manandian K.K., Kazakov A.E., Malet P., Roizes R., Vorsanova S.G. Idenjpgication and FISH mapping of cosmid, BAC, PAC and YAC clones specific for human chromosome 21. Cs Pediatr. 1997. 52 (7): 529-538.

235. Spath M.A., Nillesen W.N., Smits A.P., Feuth T.B., Braat D.D., van Kessel  A.G., Yntema H.G. X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers. Am J Med Genet. 2010. 152A (2): 387-393.

236. Stevenson R.E., Schwartz C.E. X-linked intellectual disability: unique vulnerability of the male genome. Dev Disabil Res Rev. 2009.15 (4): 361-368.

237. Sutherland G.R., Haan E.A., Kremer E., Lynch M., Pritchard M., Yu  S., Richards R.I. Hereditary unstable DNA: a new explanation for some old genetic questions? Lancet. 1991. 338(8762): 289-292.

238. Tarleton J.C., Saul R.A. Molecular genetic advances in fragile X syndrome. J Pediatr. 1993. 122: 169–185.

239. Tarpey P.S., Raymond F.L., Nguyen L.S., Rodriguez J., Hackett A., Vandeleur  L., Smith R., Shoubridge C., Edkins S., Stevens C., O’Meara S., Tofts  C., Barthorpe S., Buck G., Cole J., Halliday K., Hills K., Jones D., Mironenko T., Perry  J., Varian J., West S., Widaa S., Teague J., Dicks E., Butler  A., Menzies A., Richardson D., Jenkinson A., Shepherd R., Raine  K., Moon J., Luo Y., Parnau J., Bhat S.S., Gardner  A., Corbett M., Brooks D., Thomas P., Gécz J. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nat Genet. 2007. 39 (9): 1127-1133.

240. Tarpey P.S., Smith R., Pleasance E., Whibley A., Edkins S., Hardy  C., O’Meara S., Latimer C., Dicks E., Menzies A., Stephens P., Blow M., Greenman C., Xue Y., Tyler-Smith C., Thompson D., Gray K., Andrews  J., Barthorpe S., Buck G., Cole J., Dunmore R., Stevenson R.E., Bobrow M., Turner G., Schwartz C.E., Gecz  J., Raymond F.L., Futreal P.A., Stratton M.R. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009. 41 (5): 535-543.

241. Tassone F., Pan R., Amiri K., Taylor A.K., Hagerman P.J. A rapid polymerase chain reaction-based screening method for idenjpgication of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn. 2008. 10: 43-49.

242. Thienpont B., de Ravel T., Van Esch H., Van Schoubroeck D., Moerman P., Vermeesch J.R., Fryns J.P., Froyen G., Lacoste C., Badens  C., Devriendt K. Partial duplications of the ATRX gene cause the ATR-X syndrome. Eur J Hum Genet. 2007. 15: 1094–1097.

243. Thomas G.E. High male: female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet. 1996. 58: 1364–1368.

244. Toledano-Alhadef H., Basel-Vanagaite L., Magal N., Davidov  B., Ehrlich S., Drasinover V., Taub E., Halpern G.J., Ginott N., Shohat M. Fragile-X carrier screening and the prevalence of permutation and full-mutation carriers in Israel. Am J Hum Genet. 2001. 69: 351–360.

245. Tønnesen T., Garrett C., Gerdes A.M. High 64Cu uptake and retention values in two clinically atypical Menkes patients. J Med Genet. 1991. 28 (9): 615–618.

246. Tranebjærg L., Hamel B.C.J., Gabreels F. J.M., Renier W.O., Van Ghelue M. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome. Eur J Hum Genet. 2000. 8: 464–467.

247. Trappe R., Laccone F., Cobilanschi J., Meins M., Huppke P., Hanefeld F., Engel W. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet. 2001. 68(5):1093-1101.

248. Tuschl K., Gal A., Paschke E., Kircher S., Bodamer O.A. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol. 2005. 32: 270–272.

249. Turner G., Turner B. X-linked mental retardation. J Med Genet. 1974. 11: 109–113.

250. Twigg S.R., Kan R., Babbs C., Bochukova E.G., Robertson S.P., Wall S.A., Morriss-Kay G.M., Wilkie A.O. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA. 2004. 101 (23): 8652-8657.

251. Van den Berg I.M., Laven J.S., Stevens M., Jonkers I., Galjaard R.J., Gribnau J., van Doorninck J.H. X chromosome inactivation is initiated in human preimplantation embryos. Am J Hum Genet. 2009. 84 (6):
771-779.

252. Van Esch H., Bauters M., Ignatius J., Jansen M. Raynaud M., Hollanders K., Lugtenberg D., Bienvenu T., Jensen L.R., Gecz J., Moraine  C., Marynen P., Fryns  J.P., Froyen G. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet. 2005. 77 (3): 442-53.

253. Van Esch H. MECP2 duplication syndrome. Mol Syndromol. 2012. 2:3-5:128-136. doi: 10.1159/000329580.

254. Verkerk A.J., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P., Pizzuti A., Reiner O., Richards S., Victoria M.F., Zhang F.P., Eussen B.E.,
van Ommen G.-J.B., Blonden L.A.J., Riggins G.J., Chastain J.L., Kunst  C.B., Galjaard  H., Thomas Caskey C., Nelson D.L., Oostra B.A., Warren S.T. Idenjpgication of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991. 65 (5): 905-914.

255. Verloes A., Lesenfants S., Barr M., Grange D.K., Journel H., Lombet J., Mortier G., Roeder E. Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet. 2000. 90:407–422.

256. Villard L., Kpebe A., Cardoso C., Chelly J., Tardieu M., Fontes M. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology. 2000. 55: 1188-1193.

257. Vissers L.E., de Vries B.B., Veltman J.A. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J Med Genet. 2010. 47(5): 289-297.

258. Vorsanova S.G., Yurov Y.B.,.Demidova I.A, Vechova N.V. Molecular-cytogenetic diagnosis of chromosomal anomalies accompanied by psychiatric syndromes in children. Psychiatr Genet. 1993. 3: 176.

259. Vorsanova S.G., Yurov Y.B., Demidova I.A., Vechova N.V., Soloviev  I.V., Sharonin V.O., Kazanzeva L.Z. Application of in situ hybridization in clinical cytogenetics. Analyt Cell Pathol. 1994. 6: 3.

260. Vorsanova S.G., Soloviev I.V., Vechova N.V., Kazantzeva L.Z., Yurov  Yu.B. Unusual familial case of FraX syndrome with marker chromosome (derX). Psychiatric Genetics. 1995. Supl. 9: 57.

261. Vorsanova S.G., Demidova I.A., Ulas V.Y., Soloviev I.V., Kazantzeva L.Z., Yurov Yu.B. Cytogenetic and molecular-cytogenetic investigation of Rett syndrome: analysis of 31 cases. NeuroReport. 1996. 8:187-189.

262. Vorsanova S.G., Vechova N.V., Soloviev I.V., Kazantzeva L.Z., Troitskaia L.A., Yurov Yu.B. Unusual family case of mental retardation syndrome, associated with fraX. J Neurology & Psychiatry. 1998. 5: 83-87.

263. Vorsanova S.G., Yurov Y.B., Ulas V.Y., Demidova I.A., Sharonin V.O., Kolotii  A.D., Gorbatchevskaia N.L., Beresheva A.K., Soloviev I.V. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Brain Dev. 2001. 23:S196-S201.

264. Vorsanova S.G., Iourov I.Y., Yurov Y.B. Neurological, genetic and epigenetic features of Rett syndrome. J Pediatr Neurol. 2004. 2:179-190.

265. Vorsanova S.G., Yurov Y.B., Soloviev I.V., Iourov I.Y. Molecular cytogenetic diagnosis and somatic genome variations. Curr Genomics. 2010а. 11 (6): 440-446.

266. Vorsanova S.G., Yurov Y.B., Iourov I.Y. Human interphase chromosomes: a review of available molecular cytogenetic technologies. Mol Cytogenet. 2010б. 3: 1.

267. Vorsanova S.G., Voinova V.Y., Yurov I.Y., Kurinnaya O.S., Demidova  I.A., Yurov Y.B. Cytogenetic, molecular-cytogenetic and clinical-genealogical studies of the mothers of children with autism: a search for familial genetic markers for autistic disorders. Neurosci Behav Physiol. 2010в. 40 (7): 745-756.

268. Vorsanova S.G., Yurov Y.B., Iourov I.Y. Neurogenomic pathway of autism spectrum disorders: linking germline and somatic mutations to genetic-environmental interactions. Curr Bioinform. 2016. 11: doi: 10.2174/1574893611666160606164849.

269. Waterson J., Stockley T.L., Segal S., Golabi M. Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. Am J Med Genet. 2010. 152A: 3179-3181.

270. Weatherall D.J., Higgs D.R., Bunch C., Old J.M., Hunt D.M., Pressley  L., Clegg J.B., Bethlenfalvay N.C., Sjolin S., Koler R.D., Magenis E., Francis J.L., Bebbington D. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med. 1981. 305 (11): 607-612.

271. Weaving L.S., Williamson S.L., Bennetts B., Davis M., Ellaway C.J., Leonard H., Thong M.K., Delatycki M., Thompson E.M., Laing N., Christodoulou J.
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet. 2003. 118A: 103–114.

272. Wu D.M., Khanna H., Atmaca-Sonmez P., Sieving P.A., Branham  K., Othman M., Swaroop A., Daiger S.P., Heckenlively J.R. Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye (Lond). 2010. 24 (5):
764-774.

273. Yano S., Baskin B., Bagheri A. Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. Clin. Genet. 2011. 80: 466-471.

274. Yasui D.H., Peddada S., Bieda M.C., Vallero R.O., Hogart A., Nagarajan R.P., Thatcher K.N., Farnham P.J., Lasalle J.M. Integrated epigenomic analyses of neuronal MECP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci USA. 2007. 104 (49): 19416-19421.

275. Young I.D., Harper P.S. Incidence of Hunter’s syndrome. Hum Genet. 1982. 60 (4): 391-392.

276. Yorifuji T., Muroi J., Uematsu A., Tanaka K., Kiwaki K., Endo F., Matsuda I., Nagasaka H., Furusho K. X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency. Clin Genet. 1998. 54: 349–353.

277. Yu S., Pritchard M., Kremer E., Lynch M., Nancarrow J., Baker E., Holman  K., Mulley J., Warren S., Schlessinger D. Fragile X genotype characterized by an unstable region of DNA. Science. 1991. 252: 1179–1181.

278. Yurov Y.B., Soloviev I.V., Vorsanova S.G., Marcais B., Roizes G., Lewis R. High resolution fluorescence in situ hybridization using cyanine and fluorescin dyes: ultra-rapid chromosome detection by directly fluorescently labeled alphoid DNA probes. Hum Genet. 1996. 97:390-398.

279. Yurov Y.B., Vorsanova S.G., Kolotii A.D., Iourov I.Y. Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett Syndrome. Brain Dev. 2001. 23: Suppl 1: 214-217.

280. Yurov Y.B., Vorsanova S.G., Soloviev I.V, Demidova I.A., Alexandrov I.A., Sharonin V.O., Beresheva A.K. Original collection of DNA probes for preimplantational, fetal prenatal and postnatal diagnosis of chromosomal analysis by FISH. in: Macek  M.Sr., Bianchi D., Cuckle H (eds): Early prenatal diagnosis, fetal cells and DNA in mother, present state and perspectives. Prague, 2002. 275-283.

281. Yurov Y.B., Iourov I.Y., Vorsanova S.G., Liehr T., Kolotii A.D., Kutsev S.I., Pellestor F., Beresheva A.K., Demidova I.A., Kravetz V.S., Monakhov V.V., Soloviev I.V. Aneuploidy and confind chromosomal mosaicism in the developing human brain. PLoS ONE. 2007а. 2(6): 558-563.

282. Yurov Y.B., Vorsanova S.G., Iourov I.Y., Demidova I.A., Beresheva A.K., Kravetz V.S., Monakhov V.V., Kolotii A.D., Voinova-Ulas V.Y., Gorbachevskaya N.L. Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet. 2007б. 44(8):521-5.

283. Yurov Y.B., Vorsanova S.G., Iourov I.Y. Ontogenetic variation of the human genome. Curr Genomics. 2010а. 11(6): 420-425.

284. Yurov Y.B., Iourov I.Y. Somatic genome variations: first steps towards a deeper understanding of an underappreciated source of biodiversity and disease. Curr Genomics. 2010б. 11(6): 377-378.

285. Yurov Y.B., Vorsanova S.G., Iourov I.Y. (Editors). Human Interphase Chromosomes (biomedical aspects). Springer: New York, Heidelberg, Dordrecht, London, 2013. – 233 p.

286. Yurov Y.B., Vorsanova S.G., Liehr T., Kolotii A.D., Iourov I.Y.
X chromosome aneuploidy in the Alzheimer’s disease brain. Mol Cytogenet. 2014. 7 (1): 20. doi: 10.1186/1755-8166-7-20.

287. Yurov Y.B., Vorsanova S.G., Iourov I.Y. Network-Based Classification of Molecular Cytogenetic Data. Curr Bioinform. 2016. 11: doi: 10.2174/1574893611666160606165119.

288. Zappella M., Meloni I., Longo I., Hayek G., Renieri F. Preserved speech variants of Rett syndrome: molecular and clinical analysis. Am J Med Genet. 2001. 104: 14-22.

289. Zeev B.B., Bebbington A., Ho G., Leonard H., de Klerk N., Gak E., Vecsler  M., Christodoulou J. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology. 2009. 72 (14): 1242-1247.

290. Zhang L., Wang T., Wright A.F., Suri M., Schwartz C.E., Stevenson R.E., Valle D. A microdeletion in Xp11.3 accounts for cosegregation of retinitis pigmentosa and mental retardation in a large kindred. Am J Med Genet A. 2006. 140 (4): 349-357.

Наши оригинальные исследования выполнены в Обособленном структурном подразделении «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева»
ФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России; Федеральном государственном бюджетном учреждении «Научный центр психического здоровья»; Федеральном государственном бюджетном образовательном учреждении высшего образования «Московский государственный психолого-педагогический университет».

Собственные исследования по молекулярной цитогенетике Х-сцепленной умственной отсталости выполнены в ФГБНУ «Научный центр психического здоровья» при поддержке гранта Российского Научного Фонда (проект № 14-15-00411). Генетические и нейробиологические исследования аутизма выполнены в ФГБНУ ВО «Московский государственный психолого-педагогический университет» при поддержке гранта Российского Научного Фонда (проект № 14-35-00060).


Предлагаем вашему вниманию журналы, издающиеся в издательстве «Академия Естествознания»
(Высокий импакт-фактор РИНЦ, тематика журналов охватывает все научные направления)

«Фундаментальные исследования» список ВАК ИФ РИНЦ = 1.074