-
1
-
-
85192668092
-
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis
-
ALI, J. B. M., SEPP, T., WARD, S., GREEN, A. J. & YATES, J. R. W. (1998). Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis. J. Med. Genet. 8, 1133-1138.
-
(1998)
J. Med. Genet.
, vol.8
, pp. 1133-1138
-
-
Ali, J.B.M.1
Sepp, T.2
Ward, S.3
Green, A.J.4
Yates, J.R.W.5
-
2
-
-
0031888424
-
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients
-
AU, K. S., RODRIGUEZ, J. A., FINCH, J. L., VOLCIK, K. A., ROACH, E. S., DELGADO, M. R., RODRIGUEZ, E., JR., & NORTHRUP, H. (1998). Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. Am. J. Hum. Genet. 62, 286-94.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 286-294
-
-
Au, K.S.1
Rodriguez, J.A.2
Finch, J.L.3
Volcik, K.A.4
Roach, E.S.5
Delgado, M.R.6
Rodriguez Jr., E.7
Northrup, H.8
-
3
-
-
0021989920
-
Reduced penetrance in tuberous sclerosis
-
BARAITSER, M. & PATTON, M. A. (1985). Reduced penetrance in tuberous sclerosis. J. Med. Genet. 22, 29-31.
-
(1985)
J. Med. Genet.
, vol.22
, pp. 29-31
-
-
Baraitser, M.1
Patton, M.A.2
-
4
-
-
7844233690
-
Exon scanning of the entire TSC2 gene for gennline mutations in 40 unrelated patients with tuberous sclerosis
-
BEAUCHAMP, R. L., BANWELL, A., MCNAMARA, P., JACOB-SEN, M., HIGGINS, E., NORTHRUP, H., SHORT, P., SIMS, K., OZELIUS, L. & RAMESH, V. (1998). Exon scanning of the entire TSC2 gene for gennline mutations in 40 unrelated patients with tuberous sclerosis. Human Mutation 12, 408-416.
-
(1998)
Human Mutation
, vol.12
, pp. 408-416
-
-
Beauchamp, R.L.1
Banwell, A.2
Mcnamara, P.3
Jacob-Sen, M.4
Higgins, E.5
Northrup, H.6
Short, P.7
Sims, K.8
Ozelius, L.9
Ramesh, V.10
-
5
-
-
0023030108
-
Non-penetrance in tuberous sclerosis
-
CONNOR, J. M., STEPHENSON, J. B. & HADLEY, M. D. (1986). Non-penetrance in tuberous sclerosis. Lancet 2, 1275.
-
(1986)
Lancet
, vol.2
, pp. 1275
-
-
Connor, J.M.1
Stephenson, J.B.2
Hadley, M.D.3
-
6
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
THE EUROPEAN CHROMOSOME 16 TUBEROUS SCLEROSIS CONSORTIUM (1993). Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75, 1305-15.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
7
-
-
0031695893
-
Critical Factors in the performance and cost of two-dimensional gene scanning: RB1 as a model
-
DHANDA, R. K., VAN ORSOUW, N. J., SIGALAS, I., ENG, C. & VIJG, J. (1998). Critical Factors in the performance and cost of two-dimensional gene scanning: RB1 as a model. Biotechniques 25, 664-675.
-
(1998)
Biotechniques
, vol.25
, pp. 664-675
-
-
Dhanda, R.K.1
Van Orsouw, N.J.2
Sigalas, I.3
Eng, C.4
Vijg, J.5
-
8
-
-
0030903927
-
Genetic testing: The problems and the promise
-
ENG, C. & VIJG, J. (1997). Genetic testing: the problems and the promise. Nat. Biotechnol. 15, 422-6.
-
(1997)
Nat. Biotechnol.
, vol.15
, pp. 422-426
-
-
Eng, C.1
Vijg, J.2
-
9
-
-
0031959739
-
Sequencing exons 5 to 8 of the p53 gene by MALDI-TOF mass spectrometry
-
FU, D. J., TANG, K., BRAUN, A., REUTER, D., DARNHOFER-DEMAR, B., LITTLE, D. P., O'DONNELL, M. J., CANTOR, C. R. & KOSTER, H. (1998). Sequencing exons 5 to 8 of the p53 gene by MALDI-TOF mass spectrometry. Nat. Biotechnol. 16, 381-4.
-
(1998)
Nat. Biotechnol.
, vol.16
, pp. 381-384
-
-
Fu, D.J.1
Tang, K.2
Braun, A.3
Reuter, D.4
Darnhofer-Demar, B.5
Little, D.P.6
O'Donnell, M.J.7
Cantor, C.R.8
Koster, H.9
-
10
-
-
0027433113
-
Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
-
GANGULY, A., ROCK, M. J. & PROCKOP, D. J. (1993). Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc. Natl. Acad. Sci. U.S.A. 90, 10325-9.
-
(1993)
Proc. Natl. Acad. Sci. U.S.A.
, vol.90
, pp. 10325-10329
-
-
Ganguly, A.1
Rock, M.J.2
Prockop, D.J.3
-
11
-
-
0031437217
-
Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry
-
GRIFFIN, T. J., TANG, W. & SMITH, L. M. (1997). Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry. Nat. Biotechnol. 15, 1368-72.
-
(1997)
Nat. Biotechnol.
, vol.15
, pp. 1368-1372
-
-
Griffin, T.J.1
Tang, W.2
Smith, L.M.3
-
12
-
-
0030696314
-
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
-
JONES, A. C., DANIELLS, C. E., SNELL, R. G., TACHATAKI, M., IDZIASZCZYK, S. A., KRAWCZAK, M., SAMPSON, J. R., & CHEADLE, J. P. (1997). Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum. Mol. Genet. 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
-
13
-
-
0031291719
-
Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system
-
KUKLIN, A., MUNSON, K., GJERDE, D. & TAYLOR, P. (1997). Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system. Genetic Testing. 1, 201-200.
-
(1997)
Genetic Testing
, vol.1
, pp. 201-1200
-
-
Kuklin, A.1
Munson, K.2
Gjerde, D.3
Taylor, P.4
-
14
-
-
0032436490
-
Comprehensive mutational analysis of the TSC1 gene: Observations on frequency of mutation, associated features, and nonpenetrance
-
In press
-
KWIATKOWSKA, J., JOZWIAK, S., HALL, F., HENSKE, E. P., HAINES, J. L., MCNAMARA, P., BRAISER, J., WIGOWSKA-SOWINSKA, J., KASPRZYK-OBARA, J., SHORT, M. P. & KWIATKOWSKI, D. J. (1998). Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. Annals of Human Genetics. In press.
-
(1998)
Annals of Human Genetics
-
-
Kwiatkowska, J.1
Jozwiak, S.2
Hall, F.3
Henske, E.P.4
Haines, J.L.5
Mcnamara, P.6
Braiser, J.7
Wigowska-Sowinska, J.8
Kasprzyk-Obara, J.9
Short, M.P.10
Kwiatkowski, D.J.11
-
15
-
-
0033522238
-
Mosaicism in tuberous sclerosis: A potential cause of molecular nondiagnosis
-
In Press
-
KWIATKOWSKA, J., WIGOWSKA-SOWINSKA, J., NAPIERALA, D., SLOMSKI, R. & KWIATKOWSKI, D. J. (1999). Mosaicism in tuberous sclerosis: a potential cause of molecular nondiagnosis. New England J. Med. In Press.
-
(1999)
New England J. Med.
-
-
Kwiatkowska, J.1
Wigowska-Sowinska, J.2
Napierala, D.3
Slomski, R.4
Kwiatkowski, D.J.5
-
17
-
-
0030828764
-
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis
-
MAHESHWAR, M. M., CHEADLE, J. P., JONES, A. C., MYRING, J., FRYER, A. E., HARRIS, P. C. & SAMPSON, J. R. (1997). The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum. Mol. Genet. 6, 1991-6.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1991-1996
-
-
Maheshwar, M.M.1
Cheadle, J.P.2
Jones, A.C.3
Myring, J.4
Fryer, A.E.5
Harris, P.C.6
Sampson, J.R.7
|