Tuberöse Sklerose Komplex ist eine autosomal dominante Erkrankung, die durch Mutationen in den TSC-Genen ausgelöst wird. Die Erkrankung ist durch multisystemische Hamartome in Haut, Gehirn, Nieren, Lungen und Herz, welche in unterschiedlichem Alter auftreten, charakterisiert.
Hereditäre Hirntumoren | |||||
Gliom-Neigung | |||||
Tuberöse Sklerose Komplex | |||||
Tuberöse Sklerose 1 | |||||
TSC1 | |||||
Tuberöse Sklerose 2 | |||||
IFNG | |||||
TSC2 | |||||
1. |
Dabora SL et al. (2002) Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. |
2. |
Webb DW et al. (1991) Non-penetrance in tuberous sclerosis. |
3. |
None (1971) Mutation and cancer: statistical study of retinoblastoma. |
4. |
Kumar A et al. (1995) A de novo frame-shift mutation in the tuberin gene. |
5. |
Verhoef S et al. (1995) Somatic mosaicism and clinical variation in tuberous sclerosis complex. |
6. |
Vrtel R et al. (1996) Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. |
7. |
Roach ES et al. (1998) Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. |
8. |
Dabora SL et al. (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. |
9. |
Khare L et al. (2001) A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. |
10. |
Martin N et al. (2003) Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene. |
11. |
Crino PB et al. (2006) The tuberous sclerosis complex. |
12. |
Jansen AC et al. (2006) Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. |
13. |
Au KS et al. (2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. |
14. |
Liang N et al. (2014) Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex. |
15. |
Povey S et al. (1994) Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. |
16. |
van Slegtenhorst M et al. (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. |
17. |
Ali JB et al. (1998) Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. |
18. |
Kwiatkowska J et al. (1998) Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. |
19. |
Uhlmann EJ et al. (2002) Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells. |
20. |
Uhlmann EJ et al. (2002) Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. |
22. |
Zeng LH et al. (2008) Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. |
23. |
Wilson J et al. (1978) Genetics of tuberose sclerosis. |
24. |
Sybert VP et al. (1979) Inheritance of tuberous sclerosis. |
25. |
Rushton AR et al. (1979) Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene. |
26. |
McWilliam RC et al. (1978) Depigmented hair. The earliest sign of tuberous sclerosis. |
27. |
Martin GI et al. (1976) Computer-assisted cranial tomography in early diagnosis of tuberous sclerosis. |
28. |
O'Callaghan TJ et al. (1975) Tuberous sclerosis with striking renal involvement in a family. |
29. |
Northrup H et al. (1992) Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. |
30. |
Sampson JR et al. (1992) Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group. |
31. |
Janssen LA et al. (1992) Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data. |
32. |
Sampson JR et al. (1992) Pitted enamel hypoplasia in tuberous sclerosis. |
33. |
Webb DW et al. (1992) Echocardiography and genetic counselling in tuberous sclerosis. |
34. |
Fahsold R et al. (1991) Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3). |
35. |
Haines JL et al. (1991) Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. |
36. |
Janssen LA et al. (1990) Genetic heterogeneity in tuberous sclerosis. |
37. |
Rott HD et al. (1991) Tuberous sclerosis in two sibs of normal parents. |
38. |
Fryer AE et al. (1990) The value of investigation for genetic counselling in tuberous sclerosis. |
39. |
Harding CO et al. (1990) Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. |
40. |
Smith M et al. (1990) Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. |
41. |
Winship IM et al. (1990) Genetic heterogeneity in tuberous sclerosis: phenotypic correlations. |
42. |
van Baal JG et al. (1989) Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects. |
43. |
Sampson JR et al. (1989) Evidence for genetic heterogeneity in tuberous sclerosis. |
44. |
Grether P et al. (1987) Wilms' tumor in an infant with tuberous sclerosis. |
45. |
Fryer AE et al. (1987) Evidence that the gene for tuberous sclerosis is on chromosome 9. |
46. |
Hall JG et al. (1987) Genetics of tuberous sclerosis. |
47. |
Northrup H et al. (1987) Linkage of tuberous sclerosis to ABO blood group. |
48. |
Connor JM et al. (1987) Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl. |
49. |
None (1987) Tuberous sclerosis and ABO. |
50. |
Povey S et al. (1988) Genetic recombination between tuberous sclerosis and oncogene v-abl. |
51. |
Sampson JR et al. (1989) Genetic aspects of tuberous sclerosis in the west of Scotland. |
52. |
Smith HC et al. (1989) Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value. |
53. |
Scappaticci S et al. (1988) Chromosome abnormalities in tuberous sclerosis. |
54. |
de León GA et al. (1988) Olfactory hamartomas in tuberous sclerosis. |
55. |
Connor JM et al. (1987) Tuberous sclerosis: analysis of linkage to red cell and plasma protein markers. |
56. |
Journel H et al. () Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound. |
57. |
Fryer AE et al. (1987) Forehead plaque: a presenting skin sign in tuberous sclerosis. |
58. |
Lygidakis NA et al. (1987) Pitted enamel hypoplasia in tuberous sclerosis patients and first-degree relatives. |
59. |
Baraitser M et al. (1985) Reduced penetrance in tuberous sclerosis. |
60. |
Kandt RS et al. (1985) Tuberous sclerosis with cardiogenic cerebral embolism: magnetic resonance imaging. |
61. |
Sugita K et al. (1985) Tuberous sclerosis: report of two cases studied by computer-assisted cranial tomography within one week after birth. |
62. |
Fitzpatrick TB et al. (1968) White leaf-shaped macules. Earliest visible sign of tuberous sclerosis. |
63. |
Dwyer JM et al. (1971) Pulmonary tuberous sclerosis. Report of three patients and a review of the literature. |
64. |
Larbre F et al. (1971) [Clinical and anatomical case of an aortic aneurysm in the course of Bourneville's tuberous sclerosis]. |
65. |
Lagos JC et al. (1967) Tuberous sclerosis: reappraisal of a clinical entity. |
66. |
Bundey S et al. (1969) Tuberous sclerosis: a genetic study. |
67. |
Bundey S et al. (1970) Tuberose sclerosis without adenoma sebaceum. |
68. |
Freycon F et al. (1971) [Abdominal aorta aneurysm during Bourneville's tuberous sclerosis]. |
69. |
Nevin NC et al. (1968) Diagnostic and genetical aspects of tuberous sclerosis. |
70. |
Anderson D et al. (1969) Tuberous sclerosis and chronic renal failure. Potential confusion with polycystic kidney disease. |
71. |
None (1969) Tuberous sclerosis. Extensive roentgen findings without the usual clinical picture: a case report. |
72. |
Milledge RD et al. (1966) Pulmonary manifestations of tuberous sclerosis. |
73. |
Bender BL et al. (1981) Splenic involvement in tuberous sclerosis. Report of three cases. |
74. |
Hunt A et al. (1984) Tuberous sclerosis: a new estimate of prevalence within the Oxford region. |
75. |
Cassidy SB et al. (1983) Family studies in tuberous sclerosis. evaluation of apparently unaffected parents. |
76. |
Rattan PK et al. (1983) Tuberous sclerosis in pregnancy. |
77. |
Grasso S et al. (1982) Unusual liver lesion in tuberous sclerosis. |
78. |
Gomez MR et al. (1982) Tuberous sclerosis, early onset of seizures, and mental subnormality: study of discordant homozygous twins. |
79. |
Stapleton FB et al. (1980) The cystic renal lesion in tuberous sclerosis. |
80. |
Schwartz PL et al. (1980) Tuberous sclerosis associated with a retinal angioma. |
81. |
Webb D et al. (1994) Pitted enamel hypoplasia in tuberous sclerosis. |
82. |
Pascual-Castroviejo I et al. (1995) Tuberous sclerosis associated with histologically confirmed ocular and cerebral tumors. |
83. |
Sampson JR et al. (1995) Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family. |
84. |
McGrae JD et al. (1996) Unilateral facial angiofibromas--a segmental form of tuberous sclerosis. |
85. |
Webb DW et al. (1996) The cutaneous features of tuberous sclerosis: a population study. |
86. |
Cook JA et al. (1996) A cross sectional study of renal involvement in tuberous sclerosis. |
87. |
Au KS et al. (1996) Report of a critical recombination further narrowing the TSC1 region. |
88. |
Bosi G et al. (1996) The natural history of cardiac rhabdomyoma with and without tuberous sclerosis. |
89. |
Ruggieri M et al. (1997) Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents. |
90. |
Flanagan N et al. (1997) Developmental enamel defects in tuberous sclerosis: a clinical genetic marker? |
91. |
Van Tassel P et al. (1997) Cystlike white matter lesions in tuberous sclerosis. |
92. |
O'Callaghan FJ et al. (1998) Tuberous sclerosis complex and Wolff-Parkinson-White syndrome. |
93. |
Griffiths PD et al. (1998) White matter abnormalities in tuberous sclerosis complex. |
94. |
Verhoef S et al. (1999) High rate of mosaicism in tuberous sclerosis complex. |
95. |
O'Callaghan FJ et al. (2000) Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex. |
96. |
Rott HD et al. (2002) Cyst-like cerebral lesions in tuberous sclerosis. |
97. |
SCHULL WJ et al. (1953) Neurocutaneous syndromes in the M kindred; a case of simultaneous occurrence of tuberous sclerosis an neurofibromatosis. |
98. |
DE LA CRUZ FF et al. (1962) Tuberous sclerosis: a review and report of eight cases. |
99. |
MARSHALL D et al. (1959) Tuberous sclerosis: a report of 16 cases in two family trees revealing genetic dominance. |
100. |
None (1961) [Tuberous sclerosis (report of Yugoslav cases)]. |
101. |
NICKEL WR et al. (1962) Tuberous sclerosis. Special reference to the microscopic alterations in the cutaneous hamartomas. |
102. |
SCHEIG RL et al. (1961) Tuberous sclerosis in the adult. An unusual case without mental deficiency or epilepsy. |
103. |
Lewis JC et al. (2004) Genotype and psychological phenotype in tuberous sclerosis. |
104. |
Humphrey A et al. (2004) Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits. |
105. |
None (2005) TSC1, TSC2, TSC3? Or mosaicism? |
106. |
Shields JA et al. (2005) Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex. |
107. |
Jansen FE et al. (2008) Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. |
108. |
Curatolo P et al. (2008) Tuberous sclerosis. |
109. |
de Vries PJ et al. (2009) Neuropsychological attention deficits in tuberous sclerosis complex (TSC). |
110. |
Chu-Shore CJ et al. (2009) Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. |
111. |
Muzykewicz DA et al. (2009) TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. |
112. |
McMaster ML et al. (2011) Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population. |
113. |
Brackley KJ et al. (1999) Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation. |
114. |
Roberts PS et al. (2002) SNP identification, haplotype analysis, and parental origin of mutations in TSC2. |