-
2
-
-
8844231735
-
Diagnosis of tuberous sclerosis complex
-
Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004;19:643-9.
-
(2004)
J Child Neurol
, vol.19
, pp. 643-649
-
-
Roach, E.S.1
Sparagana, S.P.2
-
3
-
-
0030879277
-
-
van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. Identification of the tuberous sclerosis gene TSC1 on 9q34. Science 1997;277:805-8.
-
van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. Identification of the tuberous sclerosis gene TSC1 on 9q34. Science 1997;277:805-8.
-
-
-
-
4
-
-
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 1993;75:1305-15.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
5
-
-
1542577673
-
Rhebbing up mTOR: New insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis
-
Kwiatkowski DJ. Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis. Cancer Biol Ther 2003;2:471-6.
-
(2003)
Cancer Biol Ther
, vol.2
, pp. 471-476
-
-
Kwiatkowski, D.J.1
-
6
-
-
0032246307
-
Lymphangioleiomyomatosis: A review
-
Sullivan EJ. Lymphangioleiomyomatosis: a review. Chest 1998;114:1689-703.
-
(1998)
Chest
, vol.114
, pp. 1689-1703
-
-
Sullivan, E.J.1
-
7
-
-
33748780944
-
Lymphangioleiomyomatosis
-
Johnson SR. Lymphangioleiomyomatosis. Eur Respir J 2006;27:1056-65.
-
(2006)
Eur Respir J
, vol.27
, pp. 1056-1065
-
-
Johnson, S.R.1
-
8
-
-
0035881089
-
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis
-
Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, McCormack FX. Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 2001;164:661-8.
-
(2001)
Am J Respir Crit Care Med
, vol.164
, pp. 661-668
-
-
Franz, D.N.1
Brody, A.2
Meyer, C.3
Leonard, J.4
Chuck, G.5
Dabora, S.6
Sethuraman, G.7
Colby, T.V.8
Kwiatkowski, D.J.9
McCormack, F.X.10
-
9
-
-
0035881026
-
Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex
-
Moss J, Avila NA, Barnes PM, Litzenberger RA, Bechtle J, Brooks PG, Hedin CJ, Hunsberger S, Kristof AS. Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med 2001;164:669-71.
-
(2001)
Am J Respir Crit Care Med
, vol.164
, pp. 669-671
-
-
Moss, J.1
Avila, N.A.2
Barnes, P.M.3
Litzenberger, R.A.4
Bechtle, J.5
Brooks, P.G.6
Hedin, C.J.7
Hunsberger, S.8
Kristof, A.S.9
-
10
-
-
0033845586
-
Pulmonary lymphangioleiomyomatosis in a man
-
Aubry MC, Myers JL, Ryu JH, Henske EP, Logginidou H, Jalal SM, Tazelaar HD. Pulmonary lymphangioleiomyomatosis in a man. Am J Respir Crit Care Med 2000;162:749-52.
-
(2000)
Am J Respir Crit Care Med
, vol.162
, pp. 749-752
-
-
Aubry, M.C.1
Myers, J.L.2
Ryu, J.H.3
Henske, E.P.4
Logginidou, H.5
Jalal, S.M.6
Tazelaar, H.D.7
-
12
-
-
29344446562
-
Pulmonary lymphangioleiomyomatosis in a male patient with tuberous sclerosis complex
-
Miyake M, Tateishi U, Maeda T, Kusumoto M, Satake M, Arai Y, Sugimura K. Pulmonary lymphangioleiomyomatosis in a male patient with tuberous sclerosis complex. Radiat Med 2005;23:525-7.
-
(2005)
Radiat Med
, vol.23
, pp. 525-527
-
-
Miyake, M.1
Tateishi, U.2
Maeda, T.3
Kusumoto, M.4
Satake, M.5
Arai, Y.6
Sugimura, K.7
-
13
-
-
0036160714
-
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis
-
Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O. Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. J Hum Genet 2002;47:20-8.
-
(2002)
J Hum Genet
, vol.47
, pp. 20-28
-
-
Sato, T.1
Seyama, K.2
Fujii, H.3
Maruyama, H.4
Setoguchi, Y.5
Iwakami, S.6
Fukuchi, Y.7
Hino, O.8
-
14
-
-
0033968318
-
Pulmonary lymphangioleiomyomatosis: Correlation of ventilation-perfusion scintigraphy, chest radiography, and CT with pulmonary function tests
-
Avila NA, Chen CC, Chu SC, Wu M, Jones EC, Neumann RD, Moss J. Pulmonary lymphangioleiomyomatosis: correlation of ventilation-perfusion scintigraphy, chest radiography, and CT with pulmonary function tests. Radiology 2000;214:441-6.
-
(2000)
Radiology
, vol.214
, pp. 441-446
-
-
Avila, N.A.1
Chen, C.C.2
Chu, S.C.3
Wu, M.4
Jones, E.C.5
Neumann, R.D.6
Moss, J.7
-
15
-
-
0036208575
-
Lymphangioleiomyomatosis: Correlation of qualitative and quantitative thin-section CT with pulmonary function tests and assessment of dependence on pleurodesis
-
Avila NA, Kelly JA, Dwyer AJ, Johnson DL, Jones EC, Moss J. Lymphangioleiomyomatosis: correlation of qualitative and quantitative thin-section CT with pulmonary function tests and assessment of dependence on pleurodesis. Radiology 2002;223:189-97.
-
(2002)
Radiology
, vol.223
, pp. 189-197
-
-
Avila, N.A.1
Kelly, J.A.2
Dwyer, A.J.3
Johnson, D.L.4
Jones, E.C.5
Moss, J.6
-
16
-
-
33845674548
-
Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: Comparison of CT features
-
Avila NA, Dwyer AJ, Rabel A, Moss J. Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features. Radiology 2007;242:277-85.
-
(2007)
Radiology
, vol.242
, pp. 277-285
-
-
Avila, N.A.1
Dwyer, A.J.2
Rabel, A.3
Moss, J.4
-
17
-
-
0025259288
-
Pulmonary lymphangiomyomatosis: Correlation of CT with radiographic and functional findings
-
Muller NL, Chiles C, Kullnig P. Pulmonary lymphangiomyomatosis: correlation of CT with radiographic and functional findings. Radiology 1990;175:335-9.
-
(1990)
Radiology
, vol.175
, pp. 335-339
-
-
Muller, N.L.1
Chiles, C.2
Kullnig, P.3
-
18
-
-
0030696314
-
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
-
Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 1997;6:2155-61.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2155-2161
-
-
Jones, A.C.1
Daniells, C.E.2
Snell, R.G.3
Tachataki, M.4
Idziaszczyk, S.A.5
Krawczak, M.6
Sampson, J.R.7
Cheadle, J.P.8
-
19
-
-
0033365408
-
-
Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999;64:1305-15.
-
Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999;64:1305-15.
-
-
-
-
20
-
-
0035167932
-
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
-
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. 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 2001;68:64-80.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 64-80
-
-
Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
Roberts, P.S.4
Nieto, A.5
Chung, J.6
Choy, Y.S.7
Reeve, M.P.8
Thiele, E.9
Egelhoff, J.C.10
Kasprzyk-Obara, J.11
Domanska-Pakiela, D.12
Kwiatkowski, D.J.13
-
22
-
-
33750593151
-
Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors
-
Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA. Renal manifestations of tuberous sclerosis complex: incidence, prognosis, and predictive factors. Kidney Int 2006;70:1777-82.
-
(2006)
Kidney Int
, vol.70
, pp. 1777-1782
-
-
Rakowski, S.K.1
Winterkorn, E.B.2
Paul, E.3
Steele, D.J.4
Halpern, E.F.5
Thiele, E.A.6
-
23
-
-
33847057994
-
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
-
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 2007;9:88-100.
-
(2007)
Genet Med
, vol.9
, pp. 88-100
-
-
Au, K.S.1
Williams, A.T.2
Roach, E.S.3
Batchelor, L.4
Sparagana, S.P.5
Delgado, M.R.6
Wheless, J.W.7
Baumgartner, J.E.8
Roa, B.B.9
Wilson, C.M.10
Smith-Knuppel, T.K.11
Cheung, M.Y.12
Whittemore, V.H.13
King, T.M.14
Northrup, H.15
-
24
-
-
0034705207
-
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis
-
Carsillo T, Astrinidis A, Henske EP. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci USA 2000;97:6085-90.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 6085-6090
-
-
Carsillo, T.1
Astrinidis, A.2
Henske, E.P.3
-
25
-
-
0035155344
-
The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis
-
Strizheva GD, Carsillo T, Kruger WD, Sullivan EJ, Ryu JH, Henske EP. The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. Am J Respir Crit Care Med 2001;163:253- 8.
-
(2001)
Am J Respir Crit Care Med
, vol.163
, pp. 253-258
-
-
Strizheva, G.D.1
Carsillo, T.2
Kruger, W.D.3
Sullivan, E.J.4
Ryu, J.H.5
Henske, E.P.6
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