-
1
-
-
0031888424
-
Germline mutational analysis of the TSC gene in 90 tuberous-sclerosis patients
-
Au, K-S., Rodriguez, J. A., Finch, J. L. et al. Germline mutational analysis of the TSC gene in 90 tuberous-sclerosis patients. Am. J. Hum. Genet., 62, 286-294 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 286-294
-
-
Au, K.-S.1
Rodriguez, J.A.2
Finch, J.L.3
-
2
-
-
0031021317
-
Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16
-
Au, K-S., Rodriguez, J. A., Rodriguez, E. Jr., Dobyns, W. B., Delgado, M. R., and Northrup, H. Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16. Hum. Mutat., 9, 23-29 (1997).
-
(1997)
Hum. Mutat.
, vol.9
, pp. 23-29
-
-
Au, K.-S.1
Rodriguez, J.A.2
Rodriguez E., Jr.3
Dobyns, W.B.4
Delgado, M.R.5
Northrup, H.6
-
3
-
-
0028051871
-
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome
-
Brook-Carter, P. T., Peral, B., Ward, C. J. et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nature Genet., 8, 328-332 (1994).
-
(1994)
Nature Genet.
, vol.8
, pp. 328-332
-
-
Brook-Carter, P.T.1
Peral, B.2
Ward, C.J.3
-
4
-
-
9044220611
-
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas
-
Carbonara, C., Longa, L., Grosso, E. et al. Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes Chromosomes Cancers, 15, 18-25 (1996).
-
(1996)
Genes Chromosomes Cancers
, vol.15
, pp. 18-25
-
-
Carbonara, C.1
Longa, L.2
Grosso, E.3
-
5
-
-
0028786087
-
Frequency of the Prader-Willi syndrome in the san-in district, Japan
-
Ehara, H., Ohno, K., and Takeshita, K. Frequency of the Prader-Willi syndrome in the San-in district, Japan. Brain Dev., 17, 324-326 (1995).
-
(1995)
Brain Dev.
, vol.17
, pp. 324-326
-
-
Ehara, H.1
Ohno, K.2
Takeshita, K.3
-
6
-
-
0004679197
-
Depigmented nevi: Earliest sign of tuberous sclerosis
-
Gold, A. P. and Freeman, J. M. Depigmented nevi: earliest sign of tuberous sclerosis. Pediatrics, 35, 1003-1004 (1965).
-
(1965)
Pediatrics
, vol.35
, pp. 1003-1004
-
-
Gold, A.P.1
Freeman, J.M.2
-
7
-
-
0002437602
-
Clinical experience at Mayo clinic
-
ed. M. R. Gomez. Raven Press, New York
-
Gomez, M. R. Clinical experience at Mayo clinic. In "Tuberous Sclerosis," ed. M. R. Gomez, pp. 11-26 (1979). Raven Press, New York.
-
(1979)
Tuberous Sclerosis
, pp. 11-26
-
-
Gomez, M.R.1
-
8
-
-
0344159110
-
History
-
ed. M. R. Gomez. Raven Press, New York
-
Gomez, M. R. History. In "Tuberous Sclerosis," 2nd ed., ed. M. R. Gomez, pp. 1-8 (1988). Raven Press, New York.
-
(1988)
"Tuberous Sclerosis," 2nd Ed.
, pp. 1-8
-
-
Gomez, M.R.1
-
9
-
-
0029831886
-
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions
-
Henske, E. P., Scheithauer, B. W., Short, M. P. et al. Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am. J. Hum. Genet., 59, 400-406 (1996).
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 400-406
-
-
Henske, E.P.1
Scheithauer, B.W.2
Short, M.P.3
-
10
-
-
0021241981
-
Tuberous sclerosis: A new estimate of prevalence within the Oxford region
-
Hunt, A. and Lindenbaum, R. H. Tuberous sclerosis: a new estimate of prevalence within the Oxford region. J. Med. Genet., 21, 272-277 (1984).
-
(1984)
J. Med. Genet.
, vol.21
, pp. 272-277
-
-
Hunt, A.1
Lindenbaum, R.H.2
-
11
-
-
0030696314
-
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated with familial and sporadic tuberous sclerosis
-
Jones, A. C., Daniellsm, C. E., Snell, R. G. et al. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated with familial and sporadic tuberous sclerosis. Hum. Mol. Genet., 12, 2155-2161 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.12
, pp. 2155-2161
-
-
Jones, A.C.1
Daniellsm, C.E.2
Snell, R.G.3
-
12
-
-
0025741681
-
Von Hippel-Lindau disease: A genetic study
-
Maher, E. R., Iselius, L., Yates, J. R. et al. Von Hippel-Lindau disease: a genetic study. J. Med. Genet., 28, 443-447 (1991).
-
(1991)
J. Med. Genet.
, vol.28
, pp. 443-447
-
-
Maher, E.R.1
Iselius, L.2
Yates, J.R.3
-
13
-
-
0345112643
-
Tuberous sclerosis: A report of 16 cases in two family trees revealing genetic dominance
-
Marshall, D., Saul, G. B., and Sachs, E. Tuberous sclerosis: A report of 16 cases in two family trees revealing genetic dominance. N. Engl. J. Med., 261, 1102-1105 (1959).
-
(1959)
N. Engl. J. Med.
, vol.261
, pp. 1102-1105
-
-
Marshall, D.1
Saul, G.B.2
Sachs, E.3
-
14
-
-
0032566206
-
Prevalence of tuberous sclerosis in UK
-
Morrison, P. J., Shepherd, C. H., Stewart, F. J., and Nevin, N. C. Prevalence of tuberous sclerosis in UK. Lancet, 352, 318-319 (1998).
-
(1998)
Lancet
, vol.352
, pp. 318-319
-
-
Morrison, P.J.1
Shepherd, C.H.2
Stewart, F.J.3
Nevin, N.C.4
-
15
-
-
0014396148
-
Diagnosis and genetical aspects of tuberous sclerosis
-
Nevin, N. C. and Pearce, W. G. Diagnosis and genetical aspects of tuberous sclerosis. J. Med. Genet., 5, 272-280 (1968).
-
(1968)
J. Med. Genet.
, vol.5
, pp. 272-280
-
-
Nevin, N.C.1
Pearce, W.G.2
-
16
-
-
0019512572
-
Frequency of tuberous sclerosis in San-in district (Japan) and birth weight of patients with tuberous sclerosis
-
Ohno, K., Takeshita, K., and Arima, M. Frequency of tuberous sclerosis in San-in district (Japan) and birth weight of patients with tuberous sclerosis. Brain Dev., 3, 57-64 (1981).
-
(1981)
Brain Dev.
, vol.3
, pp. 57-64
-
-
Ohno, K.1
Takeshita, K.2
Arima, M.3
-
17
-
-
0028168936
-
Two loci for tuberous sclerosis: One on 9q34 and one on 16p13
-
Povey, S., Burley, M. W., Attwood, J. et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann. Hum. Genet., 58, 107-127 (1994).
-
(1994)
Ann. Hum. Genet.
, vol.58
, pp. 107-127
-
-
Povey, S.1
Burley, M.W.2
Attwood, J.3
-
18
-
-
0024220721
-
Relative fertility and mutation rate in neurofibromatosis
-
Samuelsson, B. and Akesson, H. O. Relative fertility and mutation rate in neurofibromatosis. Hereditas, 108, 169-171 (1988).
-
(1988)
Hereditas
, vol.108
, pp. 169-171
-
-
Samuelsson, B.1
Akesson, H.O.2
-
19
-
-
0024528058
-
Genetic aspects of tuberous sclerosis in the west of Scotland
-
Sampson, J. R., Scahill, S. J., Stephenson, J. B. P., Mann, L., and Conner, J. M. Genetic aspects of tuberous sclerosis in the west of Scotland. J. Med. Genet., 26, 28-31 (1989).
-
(1989)
J. Med. Genet.
, vol.26
, pp. 28-31
-
-
Sampson, J.R.1
Scahill, S.J.2
Stephenson, J.B.P.3
Mann, L.4
Conner, J.M.5
-
20
-
-
0025734821
-
Tuberous sclerosis complex in Olmsted county, Minnesota 1950-1989
-
Shepherd, C. W., Beard, M., Gomez, M. R., Kurland, L. T., and Whisnant, J. P. Tuberous sclerosis complex in Olmsted county, Minnesota 1950-1989. Arch Neurol., 48, 400-401 (1991).
-
(1991)
Arch Neurol.
, vol.48
, pp. 400-401
-
-
Shepherd, C.W.1
Beard, M.2
Gomez, M.R.3
Kurland, L.T.4
Whisnant, J.P.5
-
21
-
-
0014988462
-
Genetic aspects of tuberous sclerosis in a Chinese population
-
Singer, K. Genetic aspects of tuberous sclerosis in a Chinese population. Am. J. Hum. Genet., 523, 33-40 (1971).
-
(1971)
Am. J. Hum. Genet.
, vol.523
, pp. 33-40
-
-
Singer, K.1
-
22
-
-
0031923762
-
Evidence that lymphangiomyomatosis is caused by TSC2 mutations: Chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis
-
Somolarek, T. A., Wessner, L. L., McCormack, F. X., Mylet, J. C., Menon, A. G., and Henske, E. P. Evidence that lymphangiomyomatosis is caused by TSC2 mutations: Chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis. Am. J. Hum. Genet., 62, 810-815 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 810-815
-
-
Somolarek, T.A.1
Wessner, L.L.2
McCormack, F.X.3
Mylet, J.C.4
Menon, A.G.5
Henske, E.P.6
-
23
-
-
0029826812
-
Loss of heterozygosity in tuberous hamartomas
-
Stepp, T., Yates, J. R., and Green, A. J. Loss of heterozygosity in tuberous hamartomas. J. Med. Genet., 33, 962-964 (1996).
-
(1996)
J. Med. Genet.
, vol.33
, pp. 962-964
-
-
Stepp, T.1
Yates, J.R.2
Green, A.J.3
-
25
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on human chromosome 16
-
The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on human chromosome 16. Cell, 75, 1305-1315 (1993).
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
26
-
-
0030879277
-
Identification of the tuberous sclerosis gene on chromosome 16
-
van Slegtenhorst, M., de Hoogt, R., Hermans, C. et al. Identification of the tuberous sclerosis gene on chromosome 16. Science, 277, 805-808 (1997).
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
-
27
-
-
0021857470
-
Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982
-
Wiederholt, W. C., Gomez, M. R., and Kurland, L. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology, 35, 600-603 (1985).
-
(1985)
Neurology
, vol.35
, pp. 600-603
-
-
Wiederholt, W.C.1
Gomez, M.R.2
Kurland, L.3
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