Список літератури. 1. Актуальнi питання дiагностики в клiнiчнiй генетицi/ Пiд ред

1. Актуальнi питання дiагностики в клiнiчнiй генетицi/ Пiд ред. О.Я.Гречанiної та Д.Б.Колєсникова.- Х.Т.Д.: 1995.- С.129-148.

2. Беренбейн Б.А., Лезвинская Е.М., Краснощекова Н.Ю., Ильинская Т.Б. Синдром Горлина-Гольца.// Вестн. дерматол.- 1993.- N5.-С.63-67.

3. Бородина О.Ю. Туберозный склероз.// Журн. Невропатол. и психиатр.- 1985.- N8.- C.1249-1256.

4. Бочков Н.П., Мордовцев В.Н., Яхно Н.Н. и др. Нейрофиброматоз: состояние проблемы, нерешенные вопросы и пути изучения.// Вестн. дерматол.- 1993.- N4 - C.14-18.

5. Ваисов А.Ш., Чиченина И.В. Болезнь Прингла-Бурневиля.// Вестн. дерматол.- 1991.- N12.- C.76-78.

6. Глонти Т.И., Заалишвили Г.Р., Геладзе М.Г., Иоселиани Т.П. О клинике и патогенезе неврологических осложнений при болезни Ослера-Рандю // Клин. мед. 1981.- т.LIX, N9.- С.52-54.

7. Гречанина Е.Я., Молодан Л.В., Яковенко Е.А., Майборода Т.А. Клиника, генетика, диагностика и лечение факоматозов.// Метод. рекомендации.- Харьков:- 1993.- 13 c.

8. Гречанина Е.Я., Песочина Э.А., Молодан Л.В. Генетические факторы риска интранатального повреждения нервной системы плода.// Матер. междунар. научно-практич. конф. " Дыхательные расстройства, нарушения кровообращения и другие актуальные вопросы неонатологии".- Харьков: - 1993.- C.89-90.

9. Гречанина Е.Я., Жадан И.А., Молодан Л.В. и др. Изучение подходов к пренатальной диагностике различных форм факоматозов при помощи эхографии.// Ультразвукова перинатальна дiагностика.-1994.- N4-5.- C.12-17.

10. Гречанiна О.Я., Молодан Л.В., Бусигiна В.Ю. Мезенхiмальнi дисплазiї як одна з форм онкогенетичних синдромiв.- II з"iзд медичних генетикiв України.- Львiв, 18-20 жовтня 1995 р.- Матерiали.,-Львiв: -1995.- C.51.

11. Гречанiна О.Я., Ромадiна О.В., Молодан Л.В. та ін. Спадкова патологiя в генезi ускладнень вагiтностi та пологiв // Тез. допов. Х з'їзду акушерiв-гiнекологiв України, м.Одеса, 25-27 вересня 1996 р. - Одеса: - 1996.- С. 150.

12. Гречаніна О.Я. Сучасний погляд на спадково обумовлені форми остеопорозу // Ультразвукова перинатальна діагностика.- Харків, 2005. - №18. - С.18-23.

13. Гречанина Е.Я., Молодан Л.В., Бугаёва Е.В. Два предположительно новых синдрома- синдром, сопровождающийся гемангиоматозом языка, глотки, слухового прохода, пороком развития сосудов лица, шеи и "синдром розовой кожи"// Ультразвукова перинатальна дiагностика.-1996.-N 8-9.- С100-106.

14. Давиденков С.Н. Клинические лекции по невропатологии. - М.: -1932.

15. Зинченко А.П., Ливандовский Ю.А., Пишель Я.В. и др. Неврологические проявления при наследственной геморрагической телеангиэктазии Ослера-Рандю. // Журн. невропатол. и психиатр.- 1980.-т.LXXX, N7.- С.1005-1011.

16. Каламкарян А.А., Капкин В.В., Богатырев И.И. Синдром Горлина.// Вестн.дерматол.- 1983.- N1.- C.4-9.

17. Калинина Л.В., Гусев Е.И. Наследственные болезни метаболизма и факоматозы.- М.: Медицина, 1981.- C.148-230.

18. Калюжна Л.Д., Довгалюк Т.П., Снiцаренко О.В. Синдром Блоха-Сульцбергера.// Педiатрiя, акуш. та гiнекол.- 1989.- N6.-C.26-27.

19. Киямов Ф.А., Гребенщикова И.В. Недержание пигмента.// Вестн. дерматол.- 1993.- N6.- C.45-49.

20. Козлова С.И., Демикова Н.С., Семанова Е., Блинникова О.Е. Наследственные синдромы и медико-генетическое консультирование.- Л.: Медицина, 1987.- 320 с.

21. Козлова С.И., Семанова Е., Демикова Н.С., Блинникова О.Е. Наследственные синдромы и медико-генетическое консультирование.- М.: Практика, 1996.- 416 с.

22. Курников Г.Ю., Пухова И.В. Синдром Блоха-Сульцбергера. //Вестн. дерматол.- 1986.- N11.- C.43-44.

23. Лазюк Г.И., Лурье И.В., Черствой Е.Д. Наследственные синдромы множественных врожденных пороков развития.- М.: Медицина, 1983.- 204 с.

24. Ливандовский Ю.А. Вопросы патогенеза болезни Рандю-Ослера.// Пробл. гематол.- 1980.- т.XXY, N11.- С.47-51.

25. Маринчева Г.С., Гаврилов В.И. Умственная отсталость при наследственных болезнях.- М.: Медицина, 1988.- 256 c.

26. Медична генетика: Підручник / Кол. авт. за ред. О.Я. Гречаніної. – К. Медицина, 2007. – 536с.

27. Молочков В.А., Горохов Н.Г. Синдром Горлина-Гольца.// Вестн. дерматол.- 1993.- N5.- C.67-70.

28. Молодан Л.В. Онкогенетические синдромы // Ультразвукова перинатальна діагностика.- Харків, 2005. - №18. - С.113-147

29. Надеждина М.В., Бейн Б.Н., Выводнова В.В. Семейный случай болезни Гиппеля-Линдау.// Вопр. нейрохир.- 1988.- N2.- С.56-59.

30. Наследственные болезни: Справочник./ Под ред. Л.О.Бадалян.-Т.:"Медицина", 1980.- 415 с.

31. Новикова З.И., Бикбулатова Н.Н. Семейный случай синдрома недержания пигмента.// Вестн. дерматол.- 1992.- N10.- С.66-70.

32. Пилюгина С.С., Пурышева В.В., Кюрдогло В.И. и др. Синдром недержания пигмента.// Вестн.дерматол.- 1987.- N9.- С.53-54.

33. Проблемы современной генетики / Под ред. Е.Я. Гречаниной. – Харьков, 2003. – 424с.

34. Резник Б.Я., Зубаренко А.В. Практическая гематология детского возраста.-К.:, 1989.- С.230-233.

35. Самсыгина Г.А., Кулаженкова Д.А., Бони Е.Г., Першина Г.Д. Синдром Блоха-Сульцбергера.// Педиатрия.- 1985.- N2.- C.76-77.

36. Самсыгина Г.А., Шиленкова В.И., Алешина М.А. и др. Синдром Блоха-Сульцбергера у новорожденного ребенка.// Вопр. охр. мат. - 1988.- Т.33, N1.- С.73-75.

37. Cуковатых Т.Н., Матуш Л.И., Хрусталева Е.К., Кравцова И.Г. Сочетание синдрома Блоха-Сульцбергера и гломерулонефрита.// Вестн. дерматол.- 1992.- N1.- C.53-55.

38. Сяно В.И., Куклин В.Т., Мордохович В.М. и др. Синдром Клиппеля-Треноне.// Вестн. дерматол.- 1986.- N5.- C.47-51.

39. Хронические неспецифические заболевания кишечника у детей./ Под ред. Баранова А.А., Аболенской А.В.- М.:, 1986.- С.157-159.

40. Цукер М.Б. Клиническая неврология детского возраста.- М.:Медицина., 1986.- C.391-398.

41. Цыркунов Л.П. Болезнь Рандю-Ослера-Вебера.// Вестн. дерматол.- 1987.- N2.- C.56-59.

42. Чудина А.П., Михельсон В.М. Онкогенетические синдромы: клиника, диагностика, профилактика. М., 1989.- 66 с.

43. Энциклопедия детского невролога./ Под ред. Г.Г.Шанько.- Минск Беларуская энцыклапедыя, 1993.- С.477-481.

44. Ярославская И.А., Дзыбало Т.А. Наследственные болезни кожи.// Ультразвукова перинатальна дiагностика.- 1995.- N6-7.- С.181-193.

45. Ярошевская О.И., Харина Е.А., Брыдун А.В. Гормоночувствительный нефротический синдром у ребенка с синдромом Клиппеля-Треноне.// Педиатрия.- 1988.- N8.- С.85-88.

46. Abdalla SA et al: Visceral manifestations in hereditary haemorrhagic telangiectasia type 2. J Med Genet 40:494, 2002.

47. Agarwal H.C., Sandramouli S., Sihota R., Sood N.N. Sturge-Weber syndrome: management of glaucoma with combined trabeculotomy-trabeculectomy.// Ophthalmic-Surg., -1993, -Vol.24, N6, -p.399-402.

48. Ainsworth P.J., Rodenhiser D.I., Costa M.T. Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.// Hum. Genet., -1993, -Vol.91, N2, -p.151-156.

49. Alberti C., Sacchini P., Cortellini P. Facomatosi: espressioni anatomocliniche di interesse urologico.// Minerva. Urol. Nefrol., -1992, -Vol.44, N2, -p.101-107.

50. Al-Gazali L.I., Arthur R.J., Lamb J.T. et al. Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis. // J.Med. Genet., -1989, -Vol.26, N11,-p.694-703.

51. Alkalay a.l., Ferry D.A., Lin B., et al. Spontaneonus regression of cardiac rhabdomyoma in tuberous sclerosis.// Clin. Pediatr., -1987, -Vol.26, -p.532.

52. Almeida A., Kokalj Vokac N., Lefrancois D. et al. Hypomethylation of classical satellite DNA and chromosome instability in lymphoblastoid cell lines. // Hum-Genet., -1993,-Vol.91, N6, -p.538-546.

53. Aradhya S et al: A recurrent deletion in the ubiquitously expressed NEMO (IKK-g) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet 10:2171, 2001.

54. Arai E., Tokino T., Imai T. et al. Mapping the breakpoint of a constitutional translocation on chromosome 22 in a patient with NF2.// GenesChromosom-Cancer.,- 1993, -Vol.6, N4, -p.235-238.

55. Avioli LV, Krane SM (eds): Metabolic Bone Disease and Clinically Related Disorders. Philadelphia, Saunders, 1990.

56. Baralle D et al: Different mutations in the NF1 gene are associated with neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet 119:1, 2003.

57. Barath-B; Voros-E; Bak-Z; Bodosi-M. Cerebral venous drainage via the ophthalmic veins in the Sturge-Weber syndrome.// Neuroradiology., -1994, -Vol.36, N4, -p.318-320.

58. Becker-R; Bauer-BL; Mennel-HD; Plate-KH Cerebellar primitive neuroectodermal tumor with multipotent differentiation in a family with von Hippel-Lindau disease. Case report.//Clin-Neuropathol., - 1993, -Vol.12, N2, -p.107-111.

59. Becker-Y; Asher-Y; Tabor-E. Transfection of SV40-transformed ataxia-telangiectasia fibroblasts with mouse DNA corrects hypersensitivity to neocarzinostatin and activates fibronectin gene expression.// Isr-J-Med-Sci.- 1992 - Vol.28,N12-p.837-47.

60. Bernardczyk-Meller-J; Pecold-K. Etiopatogeneza i leczenie jaskry w zespole Sturge-Webera.// Klin-Oczna., -1993, -Vol.95, N3-4, -p.122-124.

61. Bijlsma E.K., Brouwer Mladin R., Bosch D.A. et al. Molecular characterization of chromosome 22 deletions in schwannomas.// Genes- Chromosom-Cancer., -1992, -Vol.5, N3, -p.201-205.

62. Bioxeda P., de Misa R.F., Arrazola J.M. et al. Angioma plano facial y sindrome de Sturge-Weber: estudio de 121 casos.// Med-Clin-Barc., - 1993, -Vol.101, N1, -p.1-4.

63. Bonkovsky HL et al: Prevalence and prediction of osteopenia in chronic liver disease. Hepatology 12:273, 1990.

64. Bouzas E.A., Freidlin V., Parry D.M. et al. Lens opacities in neurofibromatosis 2: further significant correlations.//Br-J- Ophthalmol., -1993, -Vol.77, N6, -p.354-357.

65. Bouzas-EA; Parry-DM; Eldridge-R; Kaiser-Kupfer-MI Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2.//Retina., -1992, -Vol.12,N2-p.103-107.

66. Braffman-B; Naidich-TP The phakomatoses: Part II. von Hippel-Lindau disease, Sturge- Weber syndrome, and less common conditions.//Neuroimaging-Clin-N-Am., -1994, -Vol.4, N2, -p.325-348.

67. Braffman-B; Naidich-TP. The phakomatoses: Part I. Neurofibromatosis and tuberous sclerosis.// Neuroimaging-Clin-N-Am.- 1994.- Vol.4, N2.- p.299-324.

68. Brunner H.G., Hulsebos T., Steijlen P.M. et al. Exclusion of the neurofibromatosis 1 locus in a family with inherited cafe-aulait spots.// Am-J-Med-Genet. 1993 Jun 1; 46(4): 472-4.

69. Burkhardt D., Schuffenhauer S., Peter R.U.et al. Incontinentia pigmenti in a male patient.// Hautarzt., -1993, -Vol.44, N3, - p.153-156.

70. Bye A.M., Andermann F., Robitaille Y. et al. Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency.// Ann-Neurol., -1993, -Vol.34, N3, -p.399-403.

71. Cabanes-Argudo M., Villar-Grimalt A., Puche-Azorin P. et al. La telangiectasia hemorragica hereditaria en un servicio de medicina interna: estudio de doce enfermos.// Rev-Clin-Esp., -1992, -Vol.191, N5, p.256-260.

72. Canalis E: Insulin-like growth factors and their role in osteoporosis. Calsif Tissue Int 58:133, 1996.

73. Capraro PA et al: Klippel-Trenaunay syndrome Plast Reconst Surg 109:2052, 2002.

74. Cendrowska M., Czochanska J., Florczak-Mikicinska E. Wczesna diagnostyka stwardnienia guzowatego.// Neurol. Neurochir. Pol., -1983, -Vol.17, -p.321.

75. Centanni G. Sclerosi tuberosa: Risonanza magnetica (R.M.) e genetica in una paziente con genitori sani.// Chron.Dermatol., -1988, -Vol.19, N6, -p.791.

76. Chang-En Y et al: Positional cloning of the Werner’s syndrome gene. Science 272:258, 1996.

77. Chapieski L et al: Psychological functioning in children with Sturge-Weber syndrome. J Child Neurol 15:660, 2000.

78. Charrow-J; Listernick-R; Ward-K Autosomal dominant multiple cafe-au-lait spots and neurofibromatosis-1: evidence of non-linkage.// Am-J-Med-Genet.,- 1993, Vol.45, N5, -p.606-608.

79. Chauhan M.S. Osler-Rendu-Weber disease presenting as recurrent haemoptysis Indian J. Chest.// Diseases and Allied Sci.,-1989, -Vol.31, N3, -p.227-232.

80. Chen L, Ochima J: Werner syndrome. J Biomed Biotechnol 2(2):46, 2002.

81. Cheng-LH; Tsai-WJ Osler-Weber-Rendu disease: a six generation family. // Kao-Hsiung-I-Hsueh-Ko-Hsueh-Tsa-Chih., -1992, Vol.8, N9,p.495-502.

82. Chen-P; Kidson-C Complementation analysis in ataxia telangiectasia: fibroblast-lymphoblastoid cell heterokaryon assay by radiation-induced chromosome aberrations.// Cytogenet-Cell-Genet., -1993, Vol.64, N1, p.9-11.

83. Chines A, Pacifici R: Antacid and sucralfate-induced hypophosphatemic osteomalacia: A case report and review of the literature. Calcif Tissue Int 47:291, 1990.

84. Cleaver JE et al: A summary of mutations in the UV-sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat 14:9, 1999.

85. Clementi Maurizio, Murgia Alessandra, Anglani Franca. Linkage analysis of neurofibramatosis type 1. Study of homogeneous North Italian population with five DNA markers of chromosome 17Hum.// Genet., -1991, -Vol.87, N1, -p.91-94.

86. Cohen MM: Klippel-Trenaunay syndrome. Am J Med Genet 93:171, 2000.

87. Cohen MS et al: Gastrointestinal manifestations of multiple endocrine neoplasia type 2. Ann Surg 235:648, 2002.

88. Collins Francis S., O'Conneil P., Bruce et al. Progress towards identifying the neurofibromatosis (NF1) gene// Trends Genet.- 1989.- 5,N7.-P217-221.

89. Collins JA: Hormone replacement therapy and breast cancer: What is happening? J Surg Obstet Gynecol Can 17:837, 1995.

90. Collins N et al: A prospective study to evaluate the dose of vitamin D required to correct low 25-hydroxyvitamin D levels, calcium, and alkaline phosphatase in patients at risk of developing antiepileptic drug-induced osteomalacia. Q J Med 78:113, 1991.

91. Committee on Genetics-American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics 107:1192, 2001.

92. Cornelius F.,Cherif D.Precise localization of a gene responsible for ataxia-telangiectasia on chromosome 11q:[ Pap.] London Conf.11th Int. Workshop "Hum. Gene Mapp.:11" Aug. 18-22, 1991. // Cytogenet. and Cell Genet., -1991, -Vol.58, N3-4.-p.1957.

93. Crossey P.A., Maher E.R., Jones M.H. et al. Genetic linkage between von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus.// Hum-Mol-Genet., -1993, -Vol.20, N 2, -p.279-282.

94. Dabora SL et al: Mutational analysis in a cohort of 224 tuberous sclerosis patient indicates increased severity of TSC2, compared to TSC1 disease, in multiple organs. Am J Hum Genet 68:64, 2001.

95. David A., Briard M.B. Sclerose tubereuse de Bourneville et consell genetique. Etude de 36 familles.// J. Genet. Hum.,-1988,- Vol.36, N3, -p.201-206.

96. Davies JH et al: Infantile McCune-Albright syndrome. Pediatr Dermatol 18:504, 2001.

97. De Leon G.A., Zaeri N., Foley C.M. Olfactory hamartomas in tuberous sclerosis.// J. Neurol. Sci., -1988, -Vol.87, -p.187.

98. DeBella K et at: Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 105:608, 2000.

99. Decker Hans Joachim H.,Gemmill Robert M. Loss of heterozygosity on 3p in a renal cell carcinoma in von Hippel-Lindau syndrome.// Cancer Genet. and Cytogenet., -1989, -Vol.39, N2, -p.289-293.

100. Dempster DW, Lindsay R: Pathogenesis of osteoporosis: An affirmative view. Editorial. J Bond Miner Res 10:1289, 1995.

101. Digilio MC et al: Grouping of multiple lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71:389, 2002.

102. Digweed-M. Human genetic instability syndromes: single gene defects with increased risk of cancer.// Toxicol-Lett., -1993, -Vol.67, N1-3, -p.259-281.

103. Donnai D, Karmiloff-Smith A: Williams syndrome: From genotype through to the cognitive phenotype. Am J Med Genet (Semin Med Genet) 97:164, 2000.

104. Drago F., Maietta G., Drago T. et al. Teleangiectasia emorragica ereditaria (Osler-Weber-Rendu disease// G. ital. dermatol. e venorol.- 1991.- 126, N5- p.243-246.

105. Dunlop MG: Guidance on gastrointestinal surveillance for hereditary non-polyposis colorectal cancer, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers syndrome. Gut 51(Suppl V):v21, 2002.

106. Easton-DF; Ponder-MA; Huson-SM; Ponder-BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.//Am-J-Hum-Genet., -1993, -Vol.53, N2, -p.305-313.

107. Ellis NA: the Bloom’s syndrome gene product is homologous to RecQ Helicases. Cell 83:655, 1995.

108. Emanuel B.S., Buetow K., Nussbaum R. et al. Report of the third international workshop on human chromosome 22 mapping.// Cytogenet-Cell-Genet., -1993, -Vol.63, N 4, -p.206-211.

109. Emery M.M. Siegfried E.C., Stone M.S. et al. Incontinentia pigmenti: transmission from father to daughter.// J-Am-Acad-Dermatol., -1993, -Vol.29, N2 (Pt2), -p.368-372.

110. Epstein FH: Mechanisms of disease. N Engl J Med 332:305, 1995.

111. Erdem-E; Agildere-M; Eryilmaz-M; Ozdirim-E. Intracranial calcification in children on computed tomography.// Turk-J-Pediatr., -1994, -Vol.36, N 2, p. 111-122.

112. Eronen M et al: Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 39:554, 2002.

113. Evans D.G., Huson S.M., Donnai D. et al. A clinical study of type 2 neurofibromatosis.// Q-J-Med., -1992, -Vol.84, N 304, -p.603-618.

114. Evans D.G., Huson S.M., Donnai D. et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.// J-Med-Genet., -1992,-Vol.29, N12, p.847-52.

115. Evans D.G., Huson S.M., Donnai D. et al. A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.// J-Med-Genet. -1992, -Vol. 29, N 12, p.841-846.

116. Evans DG., Ramsden R., Huson S.M. et al. Type 2 neurofibromatosis: the need for supraregional care?// J-Laryngol-Otol., -1993, -Vol.107, N5, p.401-406.

117. Evans G.Neurofibromatosis Curr.// Paediat., -1992, -Vol.2, N2,-p.83-85.

118. Farndon P.A., Del Mastro R.G., Evans D.G.R. et al. Localiza- tion of the gene for Gorlin (nevoid basal cell carcinoma) syndrome: Abstr. Rept 1st Int. Workshop Chromosome 9, Cfmbridge, 22-24 March, 1992.// Ann. Hum. Genet.,- 1992, -Vol.56, N3, -p.187-188.

119. Fenoglio J.J., McAllister H.A., Ferraus V.J. Cardiak rhabdomyoma. A clinicopathologic and electron microscopic study.// Am. J. Cardiol. -1976, -Vol.38, -p.241.

120. Ferner RE, Gutman DH: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis 1. Cancer Res 62:1573, 2002.

121. Finkelstein JS et al: Parathyroid hormone for the prevention of bone loss induced by estrogen deficiency. N Engl J Med 331:1618, 1994.

122. Fleury Paul, Oorthuys Hanna W.E. Neurofibromatosis. Patient care, using a multidisciplinary approach and a standardized protocol. // Clin. Genet., -1988, -Vol.34, N6, -p.396.

123. Foroud T., Wel S., Ziv Y., et al. Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium.// Amer. J. Hum. Genet., -1991, -Vol.49, N6, -p.1263-1279.

124. Foster RD et al: Giant congenital melanocytic nevi: The significance of neurocutaneous melanosis in neurologically asymptomatic children.Plast Reconstr Surg 107:933, 2001.

125. Frazer K.A., Wolff R.K., Cox D.R. Localization of the NF2 gene distal to D22S15 by the analysis of chromosome 22 rearrangements in tumor hybrids.// Abstr. Pap. Present. Meet. Genome Mapp. and Sequenc, Cold Spring Harbor, N.Y., May 6-10, 1992.- Cold Spring Harbor (N.Y.)., -1992, -p.47.

126. Friedman-JH; Weitberg-A. Ataxia without telangiectasia. // Mov-Disord.,- 1993,-Vol.8, N2, - p.223-226.

127. Fryer A.E., Osborne J.P., Tan R., Siggers D.S. Tuberous sclerosis: a large famili with no history of seizures or mental retardation. //J. Med.Genet., -1987, -Vol.24, N9, -p.547-548.

128. Fuhrmann E., Pfeiffer L., Zschenderlein R. et al. Klinisch-genetische Diagnose der Ataxia-telangiectatica (Louis-Bar-Syndrom). // Nervenarzt.,-1993, -Vol.64, N 2, p.140-142.

129. Gatti R.A., Chessa L.I., McConville C., et al. Chromosome 11 contains genes for the three most common complementation groups of ataxia-telangiectasia: a consortium report: Abstr. 41st Annu. Meet. Amer. Soc. Hum. Genet., Ctncinnati, Ohio, Jct. 16-20, 1990.// Amer. J. Hum. Genet., -1990, -Vol.47, N3, -p.147.

130. Gatti R.A., Peterson K.L., Novak J. et al. Prenatal genotyping of ataxia-telangiectasia [letter].// Lancet., -1993,- Vol.342, N8867, -p.376.

131. Gatti-RA. Candidates for the molecular defect in ataxia telangiectasia.// Adv-Neurol., -1993, -Vol.61, -p.127-132.

132. German J et al: Bloom syndrome: An analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. Proc Natl Acad Sci USA 91:6669, 1994.

133. Gnarra J.R., Glenn G.M., Latif F. et al. Molecular genetic studies of sporadic and familial renal cell carcinoma.// UrolClin-North-Am. -1993,-Vol.20,N2, -p.207-216.

134. Goldstein Simon M. A new sing of neurofibromatosis on magnetic resonanse imaging of children.// Arch. Neurol.-1989.-46, N11.-p.1222-1224.

135. Gomez M.R. Criteria for diagnosis tuberous sclerosis.//Raven Press,New York, -1988, -p.9.

136. Goodman R.M. The myth of six cafe-an-laet sports in the peripheral form of neurofibromatosis.// Neurofibromatosis,-1988, -Vol.1, N1, -p.54.

137. Gorski-JL; Boehnke-M; Reyner-EL; Burright-EN. A radiation hybrid map of the proximal short arm of the human X chromosome spanning incontinentia pigmenti 1 (IP1) translocation breakpoints.// Genomics. -1992, -Vol.14, N3,-p.657-665.

138. Grechanina E., Molodan L., Busygina V. Hamartosis as oncogenetic syndromes.// Program 9-th International Congress of Human Genetics 18-23 August 1996, Riocentro.-Rio de Janeiro.-Brazil.-P. 232.

139. Grechanina E.Ya., Molodan L.V. Busygina V.U. Mesenchymal dysplasias accompanied by tumors. Abstr.Int.Symposium on GENOMIC IMPRINTING and New Approaches in Identification and Mapping of Genetic Syndromes. Florence, 1994 //Firenze,Italy.,-1994.,-p.135.

140. Gutmann-DH; Collins-FS. The neurofibromatosis type 1 gene and its protein product, neurofibromin.// Neuron. -1993,-Vol.10, N3,-p.335-343.

141. Hackney-DB. Neoplasms and related disorders.// Top-Magn-ResonImaging. -1992,-Vol.4, N2,-p.37-61.

142. Haines J.L., Short M.P., Bove K. et al. Linkage analysis in tuberous sclerosis: Further loalization on chromosome 9 and search for other TSC genes: Abstr. Rept. lst Int. Workshop Chromoaome 9, Cambridge, 22-24 March, 1992 Ann. Hum.// Genet.-1992.- 56, N 3 - p.191-192.

143. Hall CR et al: Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. Am J Med Genet 112:1, 2002.

144. Halley D., Janssen B., Maat-Kievit A. et al. Lokalisatie van het gendefect bij tubereuze sclerosis.// Tijdschr. kindergeneesk. -1989.-57, N 5, p.168-171.

145. Happle R:A fresh look at incontinentia pigmenti. Arch Dermatol 139:1206, 2003.

146. Happle-R. Klippel-Trenaunay syndrome: is it a paradominant trait? [letter] Br-J-Dermatol. 1993 Apr; 128(4): 465-6.

147. Harris R.M., Carter N.P., Leversha M., et al. Physical mapping with DNA probes in the region 9q32-34 which show linkage to the tuberous sclerosis locus: [Pap.] london Conf. 11th Int. Workshop "Hum. Gene Mapp.11", Aug. 18-22, 1991.// Cytogenet. and Cell Genet.- 1991.- Vol. 58, N3-4- p. 1940.

148. Heim-RA; Lench-NJ; Swift-M. Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome.// Mutat-Res. -1992, -Vol.284, N1,-p.25-36.

149. Hernandez D., McConville C.M., Stacey M. et al. A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.// J-Med-Genet. -1993,-Vol.30, N2,-p.35-40.

150. Hernandez-Alvarez-G; Ayala-Landa-R; Hernandez-Adrian-G; Benarroch-C. Obstructivo en la enfermedad de von Recklinghausen. //G-E-N. -1991,-Vol.45, N1,-p.55-60.

151. Housepian-EM; Chi-TL. Neurofibromatosis and optic pathways gliomas.// J-Neurooncol. -1993,-Vol.15, N1,-p.51-55.

152. Houser O.W., Nixon J.R. Central nervous system imaging. In: Gomez M.R.(Ed.), Tuberous sclerosis, Raven Press,-New York, 1988,p.51.

153. Humphreys M.W., Nevin N.C., Wooldridge M.A.W. Cytogenetic investigations in a family with ataxia telangiectasia.// Hum. Genet.- 1989.- Vol.83, N1.- p.79-82.

154. Hunt A., Dennis J. Psychiatrric disorder among children with tuberous sclerosis.// Develop. Med.,-1987,-Vol.29, N2,-p.190-198.

155. Hunt-A; Shepherd-C. A prevalence study of autism in tuberous sclerosis.// J-Autism-Dev-Disord.- 1993,-Vol.23, N2,-p.323-339.

156. Huson S.M., Harper P.S., Compston D.A.S. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.// Brain - 1988.- Vol.111, N6, -p.1355-1381.

157. Hutchison FN, Bell NH: Osteomalacia and rickets. Semin Nephrol 12:127, 1992.

158. Hyden-Granskog-C; Salonen-R; von-Koskull-H. Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.// Hum-Genet. -1993,-Vol.91,N2,-p.185-189.

159. International IP Consortium: Genomic rearrangement in NEMO impairs NF-kB activation and is a cause of incontinentia pigmenti. Nature 405:466, 2000.

160. International IP Consortium: Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mutation or Klinefelter syndrome. Am J Hum Genet 69:1210, 2001.

161. Janssen B., Sampson J., Sandkuyl L. et al. Mapping studies in tuberous sclerosis a collaborative effort: [Pap.] London Conf. 11th Int. Workshop "Hum. Gene Mapp. 11" Aug. 18-22, 1991. // Cytogenet. and Cell Genet, -1991, -Vol.58, N3-4, -p.1940-1941.

162. Janssen L.A.J., Hesseling-Janssen A.L.W., Verhoef S. et al. Current steps in TSC1 mapping: Abstr.Rept 1st Int.Workshop Chromosome 9, Cambridge, 22-24 March, 1992.// Ann.Hum.Genet. -1992,-Vol.56, N3, -p.196-197.

163. Joenje H, Patel KJ. The emerging genetic and molecular basis of fanconi anaemia. Nature Rev Genet 2:446, 2001.

164. Jozwiak S. Diagnostic value of clinical features and supplementary investigations in tuberous sclerosis in children.// Acta Pediatrica Hungarica. -1992, -Vol.32, N1, -p.71-88.

165. Jozwiak S., Michalowicz R. Nowotwory mozgu u dzieci ze stwardnieniem guzowatym - problemy diagnostyczne i lecznicze.//Przegl. Ped., -1989, -Vol.19, -p.181.

166. Kandt R.S., Haines J.L., Smith M. et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.// Nat-Genet. -1992,-Vol.2, N1,-p.37-41.

167. Kandt-RS. Tuberous sclerosis: the next step [editorial] // J-Child-Neurol. -1993,-Vol.8, N2, -p.107-110.

168. Kastan M.B., Zhan Q., el Deiry W.S. et al. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxiatelangiectasia.// Cell.- 1992,- Vol.71, N4,- p.587-597.

169. Kayes L.M., Riccardi V.M., Burke W. et al. Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.// J-Med-Genet. -1992,-Vol.29, N10,- p.686-90.

170. Kojis Tracy L., Gatti R.A., Sparkes R.S. The cytogenetics of ataxia telangiectasia.// Cancer Genet. and Cytogenet. -1991. -Vol.56, N2, -p.143-156.

171. Konishi K et al: Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis. Am J Med Sci 301:322, 1991.

172. Kossof EM et al: Outcome of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology 59:1735, 2002.

173. Kotagal P., Rothner A.D. Epilepsy in the setting of neurocutaneous syndromes.// Epilepsia.- 1993,- Vol.34, N3,-p.71-78.

174. Kounis N.G., Karapanou E. The von Hippel-Lindau syndrome: Repot of a case and review of the literatur. //Brit. J. clin. Pract.,-1989.,-Vol.43, N 1, -p.37-41.

175. Kousseff-BG. Hypothesis: Jadassohn nevus phakomatosis: a paracrinopathy with variable phenotype. // Am-J-Med-Genet.,-1992, - Vol.43, N4, -p.651-661.

176. Kramer U et al: Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures. Dev Med Child Neurol 42:756, 2000.

177. Kumar R et al: Inhibitors of renal epithelial phosphate transport in tumor-induced osteomalacia and uremia. Proc Assoc Am Physicians 107:296, 1995.

178. Kurtz-SN; Melamed-S; Blumenthal-M. Cataract and intraocular lens implantation after remote trabeculectomy for Sturge-Weber syndrome.//J-Cataract-Refract-Surg.,-1993,-Vol.19,N4,-p.539-541.

179. Kuster-W; Happle-R. Neurocutaneous disorders in children. // Curr-Opin-Pediatr.,-1993, -Vol.5, N4, -p.436-440.

180. Kutler DI et al: A 20-year perspective on the International Fanconi anemia (IFAR). Blood 101:1249, 2003.

181. Leaute-Labreze C et al: Pulsed dye laser for Sturge-Weber syndrome. Arch Dis Child 87:434, 2002.

182. Lee J.K., Sobel R.A., Chiocca E.A. et al. Growth of human acoustic neuromas, neurofibromas and schwannomas in the subrenal capsule and sciatic nerve of the nude mouse.// J-Neurooncol.,-1992,-Vol.14, N2, -p.101-112.

183. Leicht E et al:Tumor-induced osteomalacia: Pre- and postoperative biochemical findings. Horm Metab Res 22:640, 1990.

184. Leuzzi V., Elli R., Antonelli A. et al. Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients. // Eur-J-Pediatr., -1993, -Vol.152, N7, -p.609-612.

185. Lindsay R: Prevention and treatment of osteoporosis. Lancet 341:801, 1993.

186. Lisson R. Klippel-Trenaunay Syndrom, ein kasuistischer Beitrag Padiatr. // Grenzgebiete., -1989,-Vol.28, N3. -p.185-186.

187. Listernick R., Charrow J., Greenwald M.J., et al. Optic gliomas in children with neurofibromatosis type I.//J.Pediatr., -1989, -Vol.114, N5, -p.788-792.

188. Lonch N.J.,Heim R.A.,Carpenter S.,Swift M.R. Genetic and physical mapping of DNA markers close to the ataxia-telangiectasia locus:[ Pap.] London Conf.11th Int. Workshop "Hum. Gene Mapp.:11" Aug. 18-22, 1991. // Cytogenet. and Cell Genet.,-1991, -Vol.58, N 3-4.-p.1965-1966.

189. Lothe R.A., Saeter G., Danielsen H.E. et al. Genetic alterations in a malignant schwannoma from a patient with neurofibromatosis (NF1).// Pathol-Res-Pract., -1993, -Vol.189, N4, -p.465-471.

190. Lupski-JR; Pentao-L; Williams-LL; Patel-PI. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. //Am-J-Med-Genet., -1993, -Vol.45, N1, p.92-96.

191. Lygidakis N.A.,Lindenbaum R.H. Pitted enamel hypoplasia in tuberous sclerosis patients and firstdegree relatives.// Clin. Genet.,-1987, -Vol.32, N4, -p.216-221.

192. Maher E.R., Bentley E., Yates J.R. Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analisis. // Genomics.,-1991, -Vol.10, N4. -p.957-960.

193. Maher E.R., Bentley E., Payne S.J. et al. Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers. // J-Med-Genet., -1992, -Vol.29, N.12, -p.902-905.

194. Maher E.R., Bentley E., Yates J.R. Genetic lincage analysis of von Hippel-Lindau: [ Pap.] London Conf.11th Int. Workshop "Hum.Gene Mapp. 11", Aug.18-22,1991. // Cytogenet. and Cell Genet., -1991, -Vol.58, N3-4, -p.1879.

195. Maher E.R., Iseling L., Yates J.R.W. Von Hyppel-Lindau disease: a genetic study. //J. Med. Genet., -1991,-Vol.28, N7.-p.443-447.

196. Majoor-Krakaues D.,Luyten G.,Niermeijer M.F. Von Hippel-Lindau disease: its natural history and a protocol for diagnosis and flouw-up. // Amer.J.Med. Genet., -1986,-Vol.25, N4,-p.751-752.

197. Makkar HS, Frieden IJ: Congenital melanocytic nevi: An update for the pediatrician. Clin Opin Pediatr 14:397, 2002.

198. Manuel R., Gomez M.D. Tuberous sclerosis.- New York, 1979.

199. Marcus R et al: (eds): Osteoporosis. San Diego, Academic Press, 1996.

200. Margulis A et al: Surgical management of the cutaneous manifestations of linear nevus sebaceous syndrome. Plast Reconstr Surg 111:1043, 2003.

201. Marti-Bonmati-L; Menor-F; Mulas-F. The Sturge-Weber syndrome: correlation between the clinical status and radiological CT and MRI findings. // Childs-Nerv-Syst., -1993, -Vol.9, N2, -p.107-109.

202. Martin N., de Broucker T., Cambier J., et al. MRI evaluation of tuberous sclerosis. // Neuroradioloy.,-1987, -Vol.29, N5, -p.437-443.

203. Mautner V.F., Tatagiba M., Guthoff R. et al. Neurofibromatosis 2 in the pediatric age group.// Neurosurgery.,-1993, -Vol.33, N1,- p.92-96.

204. Mayfrank L., Mohadjer M., Wullich B. Intracranial calcified deposits in neurofibromatosis type 2. // Neuroradiology.,-1990, -Vol.32, N1, -p.33-37.

205. McKusick V. Mendelian inheritance in men. -Baltimore, London, -1983, -1378 p.

206. Meyn-MS. High spontaneous intrachromosomal recombination rates in ataxiatelangiectasia. // Science.,-1993, -Vol.260, N5112, -p.1327-1330.

207. Miller I.D., Gray E.S., Lloyd D.L. Unilateral cystic disease of the neonatal kidney: a rare presentation of tuberous sclerosis. // Histopatology.,-1989,-Vol.14, N5, -p.529-532.

208. Monte Nesto JT et al: Osteomalacia secondary to renal tubular acidosis in a patient with primary Sjogren’s syndrome. Clin Exp Rheumatol 9:625, 1991.

209. Morimoto K., Mogami H. Sequential CT study of subependymal giant-cell astrocytoma associated with tuberous sclerosis.// J. Neurosurg., -1986, -Vol.65,-p.874.

210. Morlet-N; Goldberg-I. Sturge-Weber syndrome and secondary glaucoma. // Aust-N-Z-J-Ophthalmol.,-1993, -Vol.21, N 4, -p.271-272.

211. Murnane-JP; Kapp-LN. A critical look at the association of human genetic syndromes with sensitivity to ionizing radiation. // Semin-Cancer-Biol., -1993, - Vol.4, N.2, -p.93-104.

212. Narla L.D/, Slovis T.L., Watts F.B., Nigro M. The renal lesions of tuberosclerosis (cysts and angiomyoliposoma) - Screening with sonography and computerized tomography. //Pediatr. Radiol., -1988, -Vol.18, N 3,-p.205-209.

213. Neary W.J., Newton V.E., Vidler M. et al. A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis.// J-LaryngolOtol.,-1993, -Vol.107, N.1, -p.6-11.

214. Netter J.C., Bildstein G., Laurent M., et al. Mort subite "inexpliquee" d'un nourrisson atteint de sclerose tubereuse de Bourneville. // Presse Medicale.,-1989,-Vol.18,-p.1030.

215. Neumann H.P., Eggert H.R., Scheremet R. et al. Central nervous system lesions in von Hippel-Lindau syndrome. // J-Neurol-Neurosurg- Psychiatry.,-1992, -Vol.55, N10, -p.898-901.

216. Northrup-H. Tuberous sclerosis complex: genetic aspects. // J-Dermatol., -1992, -Vol.19, N.11,-p.914-919.

217. Northrup-H; Wheless-JW; Bertin-TK; Lewis-RA. Variability of expression in tuberous sclerosis. //J-Med-Genet.,-1993, -Vol.30, N1, -p.41-43.

218. Obringer A.S. The diagnosis of neurofibromatosis-1 in the child under the age of 6 years. // Amer. J. Dis. Child., -1989, -Vol.143, N6, -p.717-719.

219. O'Connell P., Viskochil D., Cawthon R,M., et al. Mapping the neurofibromatosis type I translocation region. // Amer. J. Hum. Genet., -1990, -Vol.47, N3, -p.258.

220. Ozek M.M., Sav A., Pamir M.N. et al. Pleomorphic xanthoast-rocytoma associated with von Recklinghausen neurofibromatosis.// Childs-Nerv-Syst., -1993, -Vol.9, N1, -p.39-42.

221. Pampiglione G., Moynahan E.J. The tuberous sclerosis syndrome: clinical and EEG studies in 100 children.// J. Neurol.Neurosurg. Psychiatr.,-1976, -Vol.39, -p.666.

222. Pascual-castroviejo Ignacio Hypomelanosis of Ito. Neurological complications in 34 cases. // Can. J. Neurol. Sci, -1988, -Vol.15, N 2, -p.124-129.

223. Pericak Vance M.A., Nunes K.J., Whisenant E. et al. Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. //J-Med-Genet., -1993, -Vol.30, N.6, -p.487-491.

224. Peterson Raymond D.A.,Punkhouser Jane D., Gatti Richard A. Ataxia-telangiectasia (A-T):a Disease providing clues to the regulation of the immunoglobulin gene superfamily?: [Abstr.] 20th Annu.Meet.Keystone Symp.Mol. and Cell. Biol.,Apr.6-25,1991. // J.Cell.Biochem., -1991, -Suppl.15G, -p.2.

225. Platt L.D., Devore G.R., et al. Prenatal diagnosis of tuberous sclerosis: the use of fetal echocardiography. // Prenat. Diagn., -1987,-N7, -p.407-411.

226. Plauchu-H. Maladie de von Recklinghausen: les enseignements de la genetique et de la biologie moleculaire.// Pediatrie.-1992,-Vol.47, N6, -p.423-425.

227. Pont-MS; Elster-AD. Lesions of skin and brain: modern imaging of the neurocutaneous syndromes. // AJR-Am-J-Roentgenol., -1992, -Vol.158, N6, -p.1193-203.

228. Powell S., Whitaker S., Peacock J., McMillan T. Ataxia telangiectasia: an investigation of the repair defect in the cell line AT5BIVA by plasmid reconstitution.// Mutat-Res., -1993,- Vol.294, N1, -p.9-20.

229. Reis A. Localization of the gene for basal cell naevus syndrome. // Ann. Hum.Genet.,-1992, -Vol.56, N3, -p.207-208.

230. Rey J.A., Bello M.J., Kusak M.E. et al. Involvement of 22q12 in a neurofibrosarcoma in neurofibromatosis type 1.// Cancer-Genet- Cytogenet., -1993, -Vol.66, N1, -p.28-32.

231. Richard S., Resche F., Vermesse B. et al. Pheochromocytome, premiere manifestation de la maladie de von Hippel-Lindau: une eventualite a connaitre.// Arch-Mal-Coeur-Vaiss., -1992,-Vol.85, N8, -p.1153-1156.

232. Richards F.M., Maher E.R., Latif F. et al. Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene. // J-Med-Genet., -1993, -Vol.30, N2, -p.104-107.

233. Riggs BL, Melton LJ III: The prevention and treatment of osteoporosis. N Engl J Med 327:620, 1992.

234. Rintahaka P.J., Chugani H.T., Messa C., Phelps M.E. Hemimegalencephaly: evaluation with positron emission tomography. // Pediatr-Neurol.,-1993, -Vol.9, N1, -p.21-28.

235. Rodenhiser D.I., Ainsworth P.J., Coulter Mackie M.B. et al. A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.// J-Med-Genet.,-1993, -Vol.30, N.5,-p.363-368.

236. Rodriguez-Diaz-E; de-Unamuno-P. El sindrome de Sturge-Weber. Comment on: Med Clin (Barc) 1993 May 29; 101(1):1-4 // Med-Clin-Barc., -1993, -Vol.101, N1, -p.18-19.

237. Rogers R.S. Dermatologic manifestations.In: Gomez M.R. Tuberous Sclerosis. -Raven Press, New York, -1988, -p.111.

238. Roos-KL. The neurofibromatoses. Department of Neurology, Indiana University School of Medicine, Indianapolis. // Ear-Nose-Throat-J., -1992, -Vol.71, N10, -p.512-514.

239. Rosenberg PS et al: Cancer incidence in persons with Fanconi anemia. Blood 101:822, 2003.

240. Roth-AM; Keltner-JL. Linear nevus sebaceous syndrome. // J-Clin-Neuroophthalmol., -1993, -Vol.13, N1, -p.44-49.

241. Ryan PJ et al: Osteoporosis and chronic back pain: A study with single-photon emission computed tomography bone scintigraphy. J Bone Miner Res 7:1455, 1992.

242. Sampson J.R., Yates J.R.W., Pirrit L.A. et al. Linkage analysis in tuberous sclerosis:evidence for genetic heterogeneity with one disease locus at distal 9q //J. Med Genet., -1989, -Vol.26, N9, -p.593-594.

243. Seki N., Tsuji H., Takahashi E., et al. Induction of BrdU-enfanceable fragile site at 11q23.1 and increased sister chromatid exchanges: [Pap.] 63rd Annu. Meet. Genet. Soc. Jap., Fukuoka, Oct. 16-18, 1990. // Jap. J. Genet., -1991, -Vol.66, N6. -p.785.

244. Shin-GS; Demer-JL. Retinal arteriovenous communications associated with features of the Sturge-Weber syndrome [letter] // Am-J-Ophthalmol.,-1994, -Vol.117, N1, -p.115-117.

245. Smirniotopoulos-JG; Murphy-FM. The phakomatoses. // AJNR-Am-J-Neuroradiol., -1992, -Vol.13, N2, -p.725-746.

246. Smith H.C., Watson G.h., Patel R.G., et al. Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value. // Arch. Dis. Child., -1989, -Vol.64, -p.196.

247. Smith D.W. Recognizable Patterns of Human Malformation. 3rd. ed.,-Philadelphia: W.B.Saunders.,-1982, -p.367-399.

248. Smith M., Dumars K., Baumann R. et al. Evidence fox genetic beterogeneity in tuberous selerosis one gene maps to the 9q34 region and a second gene maps in the 11q22-11q23 region. // Citogeuet. and Cell Genet.,-1989, -Vol.51, N1-4, -p.1082.

249. Steingrimsdottir H., Rowley G., Waugh A. et al. Molecular analysis of mutations in the hprt gene in circulating lymphocytes from normal and DNA-repair-deficient donors.// Mutat-Res.,-1993,-Vol. 294, N1, -p.29-41.

250. Stern Marc-Henri, Lipkowitz Stanley. Inversion of chromosome 7 in ataxia telangiectasia is generated by a rearrangement between T-cell receptor -- and T-cell receptor -genes // Blood., -1989, -Vol.74, N6, -p.2076-2080.

251. Stern-MH. Ataxia telangiectasia: a model for T-cell leukemogenesis. // Nouv-Rev-Fr-Hematol., -1993, -Vol.35, N1, -p.29-31.

252. Stone MD et al: A neuroendocrine cause of oncogenic osteomalacia. J Pathol 167:181, 1992.

253. Stoppa-Lyonnet-D; Aurias-A. Ataxie telangiectasie: quel impact en cancerologie clinique? // Bull-Cancer-Paris., -1992,-Vol.79, N7, -p.645-650.

254. Swift-M; Heim-RA; Lench-NJ. Genetic aspects of ataxia telangiectasia.// Adv-Neurol.,-1993, -Vol.61, -p.115-125.

255. Szudek J et al: Growth charts for young children with neurofibromatosis (NF1). Am J Med Genet 92:224, 2000.

256. Szymczyk-K; Misiolek-M; Kubik-P; Zglobisz-Kozik-H. Nerwiakowlokniakowatosc glowy i szyi.// Wiad-Lek., -1992, -Vol.45, N5-6), -p.18-19.

257. Takano Takano, Kawashima Tomoko, Yamanouchi Yasuko et al. Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect.// Hum. Genet., -1992, -Vol.89, N3, -p.281-286.

258. Tanaka N., Nishisho I., Yamamoto M. et al. Loss of heterozygosity on the long arm of chromosome 22 in pheochromocytoma.// Genes-Chromosom-Cancer, -1992, -Vol.5, N4, -p.399-403.

259. Tanimuro M., Matsui I., Kobayaski H. Malignancy in neurofibromatosis type 1: [Abstr.] 36th Annu. Meet. Jap. Soc. Hum. Genet., 1991. // Jap. J. Hum. Genet., -1992, -Vol.37, N1, -p.23.

260. Taylor-AM; Jaspers-NG; Gatti-RA. Fifth International Workshop on Ataxia-Telangiectasia.// Cancer-Res., -1993, -Vol.53, N2, -p.438-441.

261. Thick J., Sherrington P.D., Fisch P. et al. Molecular analysis of a new translocation, t(X;14)(q28;q11), in premalignancy and in leukaemia associated with ataxia telangiectasia. // Genes-ChromosomCancer., -1992, -Vol.5, N.4, -p.321-325.

262. Tiacci C., D'Alessandro P., Cantisani T.A. et al. Epilepsy with bilateral occipital calcifications: Sturge-Weber variant or a different encephalopathy? // Epilepsia., -1993, -Vol.34, N3, -p.528-539.

263. Tommerup-N; Lothe-R. Constitutional ring chromosomes and tumour suppressor genes.//J-Med-Genet., -1992, -Vol.9, N12, -p.879-882.

264. Torre M et al: Daignostic and therapeutic approach to multiple endocrine neoplasia type 2b in pediatric patients. Pediatr Surg Int 18:378, 2002.

265. Trofatter J.A., MacCollin M.M., Rutter J.L. et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neuro-fibromatosis 2 tumor suppressor.// Cell., -1993, -Vol.72, N5, -p.791-800.

266. Truhan-AP; Filipek-PA. Magnetic resonance imaging. Its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. // Arch-Dermatol., -1993, -Vol.129, N.2, -p.219-226.

267. Turner JT et al: Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases. Am J Med Genet 130:111, 2004.

268. Upadhyaya M., Fryer A., Broadhead W., et al. Paternal origin of new mutation in Von Recklingausen neurofibromatosis (NF1). // J.Med.Genet., -1990, -Vol.29, N3, -p.209.

269. Upadhyaya M., Fryer A., MacMillan J. Prenatal diagnosis and presymptomatic detection of neurofibramatosis type 1. // J.Med. Genet., -1992, -Vol.29, N3, -p.180-183.

270. Van Baal J.G., Fleurs P., Brummelkamp W.H. Tubercus sclerosis and the relation with renal angiomyolipoma. A genetic stady on clinical aspects. // Clin.Genet.,-1989, -Vol.35, -p.167.

271. Vance J.M., Small K. Linkage studies in Von Hippel-Lindau disease. // Cytogenet. and Cell Genet., -1989, -Vol.551, N1-4, -p.1097.

272. Vanhoenacker FM et al: Hereditary multiple exostosis; from genetics to clinical syndrome and complications. Eur J Radiol 40:208, 2001.

273. Viskochil-D; Carey-JC. Nosological considerations of the neurofibromatoses.// J-Dermatol.,-1992, -Vol.19, N11, -p.873-880.

274. Viskochil-D; White-R; Cawthon-R. The neurofibromatosis type 1 gene.// Annu-Rev-Neurosci., -1993, -Vol.16, -p.183-205.

275. Vogl T.J., Stemmler J., Bergman C. et al. MR and MR angiography of Sturge-Weber syndrome. // AJNR-Am-J-Neuroradiol., -1993,-Vol.14, N2, -p.417-425.

276. Wainwright B., Sharpe H., Wicking C., Chenevix-Trench A.B. Analysis of chromosome 9q markers in Gorlin's syndrome: Abstr. Rept 1st Int. Workshop Chromosome 9, Cambridge, 22-24 March, 1992. // Ann. Hum. Genet.,-1992, -Vol.56, N3, -p.232.

277. Webb David W., Froer A.E., Osborne John P. On the incidence of fits and mental retardation in tuberous sclerosis. // J. Med. Genet., -1991,-Vol.28, N6, -p.395-397.

278. Webb David W., Osborne John P. Non-penetrance in tuberous sclerosis. // J. Med. Genet., -1991, -Vol.28, N6, -p.417-419.

279. Weidner N: Review and update: Oncogenic osteomalacia-rickets. Ultrastruct Pathol 15:317, 1991.

280. Westmoreland B.F. Electroencephalographic experiense at the Mayo Clinic. In: Gomez M.R.(Ed.) Tuberous sclerosis. –Raven Press, New York, -1988, -p.37.

281. Willems P.J., Van Roy B.C., Kleijer W.J. et al. Atypical clinical presentation of ataxia telangiectasia. // Am-J-Med-Genet.,-1993,-Vol.45,N.6,-p.777-782.

282. Williams-DW 3d; Elster-AD. Cranial CT and MR in the Klippel-Trenaunay-Weber // AJNR-Am-J-Neuroradiol., -1992, -Vol.13, N.1, -p.291-294.

283. Wolff R.K.,Frazer K.A. Analysis of chromosome 22 deletions in neurofibromatosis type 2-related tumors. // Amer. J. Hum. Genet.,-1992, -Vol.51, N3, -p.478-485.

284. Wullich B., Mayfrank L.,Schempp W. Cytogenetic and in situ DNA- hybridization studies in intracranial tumors of a patient with central neurofibromatosis. //Cancer Genet. and Cytogenet,. -1989, -Vol.38, N2,. -p.171.

285. Zlotogora J. Mutations in von Recklinghausen neurofibromatosis: an hypothesis. // Am-J-Med-Genet., -1993, -Vol.46, N2, -p.182-184.