-
2
-
-
0029549987
-
History of the tuberous sclerosis complex
-
M.R. Gomez History of the tuberous sclerosis complex Brain Dev 17 Suppl 1995 55 57
-
(1995)
Brain Dev
, vol.17
, Issue.SUPPL.
, pp. 55-57
-
-
Gomez, M.R.1
-
3
-
-
0002861108
-
Zur Diagnostik der tuberösen Sklerose Zeitschrift für die Erforschung und Behandlung des jugendlichen Schwachsinns auf wissenschaftlicher Grundlage
-
H. Vogt Zur Diagnostik der tuberösen Sklerose Zeitschrift für die Erforschung und Behandlung des jugendlichen Schwachsinns auf wissenschaftlicher Grundlage Jena 2 1908 1 16
-
(1908)
Jena
, vol.2
, pp. 1-16
-
-
Vogt, H.1
-
4
-
-
0025832870
-
On the incidence of fits and mental retardation in tuberous sclerosis
-
D.W. Webb, A.E. Fryer, J.P. Osborne On the incidence of fits and mental retardation in tuberous sclerosis J Med Genet 20 1991 395 397
-
(1991)
J Med Genet
, vol.20
, pp. 395-397
-
-
Webb, D.W.1
Fryer, A.E.2
Osborne, J.P.3
-
5
-
-
0034936816
-
Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B
-
M.G. Catania, P.S. Mischel, H.V. Vinters Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B J Neuropathol Exp Neurol 60 2001 711 723
-
(2001)
J Neuropathol Exp Neurol
, vol.60
, pp. 711-723
-
-
Catania, M.G.1
Mischel, P.S.2
Vinters, H.V.3
-
6
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
M. van Slegtenhorst, R. de Hoogt, C. Hermans Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 Science 277 1997 805 808
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
-
7
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
European Chromosome 16 Tuberous Sclerosis Consortium
-
European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16 Cell 75 1993 1305 1315
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
8
-
-
0001444308
-
Augengeschwultse bei der tuberosen Hirnsklerose (Bourneville)
-
J. van der Hoeve Augengeschwultse bei der tuberosen Hirnsklerose (Bourneville) Albrecht von Graefes Arch Ophthalmol 105 1921 880 898
-
(1921)
Albrecht von Graefes Arch Ophthalmol
, vol.105
, pp. 880-898
-
-
Van Der Hoeve, J.1
-
9
-
-
0342657030
-
Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex
-
R.C. Eagle Jr, J.A. Shield, C.L. Shield, M.G. Wood Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex Arch Ophthalmol 118 2000 711 715
-
(2000)
Arch Ophthalmol
, vol.118
, pp. 711-715
-
-
Eagle Jr., R.C.1
Shield, J.A.2
Shield, C.L.3
Wood, M.G.4
-
10
-
-
0032438210
-
Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
-
E.S. Roach, M.R. Gomez, H. Northrup Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria J Child Neurol 13 1998 624 628
-
(1998)
J Child Neurol
, vol.13
, pp. 624-628
-
-
Roach, E.S.1
Gomez, M.R.2
Northrup, H.3
-
12
-
-
0028952621
-
Long-term observation of retinal lesions in tuberous sclerosis
-
I.E. Zimmer-Galler, D.M. Robertson Long-term observation of retinal lesions in tuberous sclerosis Am J Ophthalmol 119 1995 318 324
-
(1995)
Am J Ophthalmol
, vol.119
, pp. 318-324
-
-
Zimmer-Galler, I.E.1
Robertson, D.M.2
-
13
-
-
0025894982
-
Ophthalmic manifestations of tuberous sclerosis
-
D.M. Robertson Ophthalmic manifestations of tuberous sclerosis Ann N Y Acad Sci 615 1991 17 25
-
(1991)
Ann N y Acad Sci
, vol.615
, pp. 17-25
-
-
Robertson, D.M.1
-
14
-
-
0029900158
-
The cutaneous features of tuberous sclerosis: A population study
-
D.W. Webb, A. Clarke, A. Fryer, J.P. Osborne The cutaneous features of tuberous sclerosis: a population study Br J Dermatol 135 1996 1 5
-
(1996)
Br J Dermatol
, vol.135
, pp. 1-5
-
-
Webb, D.W.1
Clarke, A.2
Fryer, A.3
Osborne, J.P.4
-
15
-
-
0024514433
-
Tuberous sclerosis and the relation with renal angiomyolipoma: A genetic study on the clinical aspects
-
J.G. van Baal, P. Fleury, W.H. Brummelkamp Tuberous sclerosis and the relation with renal angiomyolipoma: a genetic study on the clinical aspects Clin Genet 35 1989 167 173
-
(1989)
Clin Genet
, vol.35
, pp. 167-173
-
-
Van Baal, J.G.1
Fleury, P.2
Brummelkamp, W.H.3
-
16
-
-
0029781881
-
Pathological case of the month: Congenital cardiac rhabdomyoma
-
I. Seki, A.D. Singh, S. Longo Pathological case of the month: congenital cardiac rhabdomyoma Arch Pediatr Adol Med 150 1996 877 878
-
(1996)
Arch Pediatr Adol Med
, vol.150
, pp. 877-878
-
-
Seki, I.1
Singh, A.D.2
Longo, S.3
-
17
-
-
0035061117
-
Ophthalmic manifestations of tuberous sclerosis: A population based study
-
S.A. Rowley, F.J. O'Callaghan, J.P. Osborne Ophthalmic manifestations of tuberous sclerosis: a population based study Br J Ophthalmol 85 2001 420 423
-
(2001)
Br J Ophthalmol
, vol.85
, pp. 420-423
-
-
Rowley, S.A.1
O'Callaghan, F.J.2
Osborne, J.P.3
-
18
-
-
0023038621
-
High incidence of fundus hamartomas and clinical significance of a fundus score in tuberous sclerosis
-
K. Kiribuchi, Y. Uchida, Y. Fukuyama, H. Maruyama High incidence of fundus hamartomas and clinical significance of a fundus score in tuberous sclerosis Brain Dev 8 1986 509 517
-
(1986)
Brain Dev
, vol.8
, pp. 509-517
-
-
Kiribuchi, K.1
Uchida, Y.2
Fukuyama, Y.3
Maruyama, H.4
-
19
-
-
33847057994
-
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
-
K.S. Au, A.T. Williams, E.S. Roach Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genet Med 9 2007 88 100
-
(2007)
Genet Med
, vol.9
, pp. 88-100
-
-
Au, K.S.1
Williams, A.T.2
Roach, E.S.3
-
20
-
-
84865684698
-
Tumors of the retinal pigment epithelium (RPE)
-
A. Agarwal, 5th Ed. Elsevier London
-
A.D. Singh, A. Agarwal Tumors of the retinal pigment epithelium (RPE) A. Agarwal, 5th Ed. Gass' atlas of macular disease Vol 2 2012 Elsevier London 1076
-
(2012)
Gass' Atlas of Macular Disease
, vol.2
, pp. 1076
-
-
Singh, A.D.1
Agarwal, A.2
-
21
-
-
0033365408
-
Comprehensive mutation analysis of TSC1 and TSC2 - And phenotypic correlations in 150 families with tuberous sclerosis
-
A.C. Jones, M.M. Shyamsundar, M.W. Thomas Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis Am J Hum Genet 64 1999 1305 1315
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1305-1315
-
-
Jones, A.C.1
Shyamsundar, M.M.2
Thomas, M.W.3
-
22
-
-
0030696314
-
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
-
A.C. Jones, C.E. Daniells, R.G. Snell Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis Hum Mol Genet 6 1997 2155 2161
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2155-2161
-
-
Jones, A.C.1
Daniells, C.E.2
Snell, R.G.3
-
23
-
-
0035167932
-
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
-
S.L. Dabora, S. Jozwiak, D.N. Franz Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs Am J Hum Genet 68 2001 64 80
-
(2001)
Am J Hum Genet
, vol.68
, pp. 64-80
-
-
Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
-
24
-
-
20544431744
-
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: Genotype-phenotype correlation and comparison of diagnostic DNA techniques in tuberous sclerosis complex
-
O. Sancak, M. Nellist, M. Goedbloed Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlation and comparison of diagnostic DNA techniques in tuberous sclerosis complex Eur J Hum Genet 13 2005 731 741
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 731-741
-
-
Sancak, O.1
Nellist, M.2
Goedbloed, M.3
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