-
1
-
-
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. & NORTHRUP, H. (1998). Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. Am. J. Hum. Genet. 62, 286-294.
-
(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, E.7
Northrup, H.8
-
2
-
-
7844233690
-
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis
-
BEAUCHAMP, R. L., BANWELL, A., MCNAMARA, P., JACOBSEN, M., HIGGINS, E., NORTHRUP, H., SHORT, P., SIMS, K., OZELIUS, L. & RAMESH, V. (1998). Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Hum. Mutat. 12, 408-16.
-
(1998)
Hum. Mutat.
, vol.12
, pp. 408-416
-
-
Beauchamp, R.L.1
Banwell, A.2
Mcnamara, P.3
Jacobsen, M.4
Higgins, E.5
Northrup, H.6
Short, P.7
Sims, K.8
Ozelius, L.9
Ramesh, V.10
-
3
-
-
0032991552
-
Characterization of single-nucleotide polymorphisms in coding regions of human genes
-
CARGILL, M., ALTSHULER, D., IRELAND, J., SKLAR, P., ARDLIE, K., PATIL, N., LANE, C. R., LIM, E. P., KALAYANARAMAN, N., NEMESH, J., ZIAUGRA, L., FRIEDLAND, L., ROLFE, A., WARRINGTON, J., LIPSHUTZ, R., DALEY, G. Q. & LANDER, E. S. (1999). Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet. 22, 231-8
-
(1999)
Nat. Genet.
, vol.22
, pp. 231-238
-
-
Cargill, M.1
Altshuler, D.2
Ireland, J.3
Sklar, P.4
Ardlie, K.5
Patil, N.6
Lane, C.R.7
Lim, E.P.8
Kalayanaraman, N.9
Nemesh, J.10
Ziaugra, L.11
Friedland, L.12
Rolfe, A.13
Warrington, J.14
Lipshutz, R.15
Daley, G.Q.16
Lander, E.S.17
-
4
-
-
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, 1305-1315.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
5
-
-
0031671822
-
Mutation detection and mutation databases
-
COTTON, R. G. (1998). Mutation detection and mutation databases. Clin. Chem. Lab. Med. 36, 519-22.
-
(1998)
Clin. Chem. Lab. Med.
, vol.36
, pp. 519-522
-
-
Cotton, R.G.1
-
6
-
-
0032447787
-
Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE
-
DABORA, S. L., SIGALAS, I., HALL, F., ENG, C., VIJG, J. & KWIATKOWSKI, D. J. (1998). Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE. Ann. Hum. Genet. 62, 491-504.
-
(1998)
Ann. Hum. Genet.
, vol.62
, pp. 491-504
-
-
Dabora, S.L.1
Sigalas, I.2
Hall, F.3
Eng, C.4
Vijg, J.5
Kwiatkowski, D.J.6
-
7
-
-
0030903927
-
Genetic testing: The problems and the promise
-
ENG, C. & VIJG, J. (1997). Genetic testing: the problems and the promise. Nat. Biotechnol. 15, 422-426.
-
(1997)
Nat. Biotechnol.
, vol.15
, pp. 422-426
-
-
Eng, C.1
Vijg, J.2
-
8
-
-
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
-
10
-
-
0033365408
-
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis
-
JONES, A.C., SHYAMSUNDAR, M. M., THOMAS, M. W., MAYNARD, J., IDZIASZCZYK, S., TOMKINS, S., SAMPSON, J. R. & CHEADLE, J. P. (1999). Comprehensive Mutation Analysis of TSC1 and TSC2-and Phenotypic Correlations in 150 Families with Tuberous Sclerosis. Am. J. Hum. Genet. 64, 1305-1315.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1305-1315
-
-
Jones, A.C.1
Shyamsundar, M.M.2
Thomas, M.W.3
Maynard, J.4
Idziaszczyk, S.5
Tomkins, S.6
Sampson, J.R.7
Cheadle, J.P.8
-
11
-
-
0032539612
-
Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing
-
KORKKO, J., ANNUNEN, S., PIHLAJAMAA, T., PROCKOP, D. J. & ALA-KOKKO, L. (1998). Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc. Natl. Acad. Sci. U.S.A. 95, 1681-5.
-
(1998)
Proc. Natl. Acad. Sci. U.S.A.
, vol.95
, pp. 1681-1685
-
-
Korkko, J.1
Annunen, S.2
Pihlajamaa, T.3
Prockop, D.J.4
Ala-Kokko, L.5
-
12
-
-
0033152933
-
A novel technique for rapid automated genotyping of DNA polymorphisms in the mouse
-
KUKLIN, A., DAVIS, A. P., HECKER, K. H., GJERDB, D. T. & TAYLOR, P. D. (1999). A novel technique for rapid automated genotyping of DNA polymorphisms in the mouse. Mol. Cell. Probes 13, 239-242.
-
(1999)
Mol. Cell. Probes
, vol.13
, pp. 239-242
-
-
Kuklin, A.1
Davis, A.P.2
Hecker, K.H.3
Gjerdb, D.T.4
Taylor, P.D.5
-
13
-
-
0032436490
-
Comprehensive mutational analysis of the TSC1 gene: Observations on frequency of mutation, associated features, and nonpenetrance
-
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. Ann. Hum. Genet. 62, 277-85.
-
(1998)
Ann. Hum. Genet.
, vol.62
, pp. 277-285
-
-
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
-
-
0032520681
-
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
-
LIU, W., SMITH, D. I., RECHTZIGEL, K. J., THIBODEAU, S. N. & JAMES, C. D. (1998). Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucl. Acids Res. 26, 1396-400.
-
(1998)
Nucl. Acids Res.
, vol.26
, pp. 1396-1400
-
-
Liu, W.1
Smith, D.I.2
Rechtzigel, K.J.3
Thibodeau, S.N.4
James, C.D.5
-
16
-
-
13044316665
-
Dynamic molecular combing: Stretching the whole human genome for high-resolution studies
-
MICHALET, X., EKONG, R., FOUGEROUSSE, F., ROUSSEAUX, S., SCHURRA, C., HORNIGOLD, N., VAN SLEGTENHORST, M., WOLFE, J., POVEY, S., BECKMANN, J. S. & BENSIMON, A. (1997). Dynamic molecular combing: stretching the whole human genome for high-resolution studies. Science 277, 1518-23.
-
(1997)
Science
, vol.277
, pp. 1518-1523
-
-
Michalet, X.1
Ekong, R.2
Fougerousse, F.3
Rousseaux, S.4
Schurra, C.5
Hornigold, N.6
Van Slegtenhorst, M.7
Wolfe, J.8
Povey, S.9
Beckmann, J.S.10
Bensimon, A.11
-
17
-
-
0032726851
-
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
-
NIIDA, Y., LAWRENCE-SMITH, N., BANWELL, A., HAMMER, E., LEWIS, J., BEAUCHAMP, R. L., SIMS, K. & RAMESH, V. (1999). Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum. Mutat. 14, 412-22.
-
(1999)
Hum. Mutat.
, vol.14
, pp. 412-422
-
-
Niida, Y.1
Lawrence-Smith, N.2
Banwell, A.3
Hammer, E.4
Lewis, J.5
Beauchamp, R.L.6
Sims, K.7
Ramesh, V.8
-
18
-
-
0032529112
-
Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection
-
O'DONOVAN, M. C., OEFNER, P. J., ROBERTS, S. C., AUSTIN, J., HOOGENDOORN, B., GUY, C., SPEIGHT, G., UPADHYAYA, M., SOMMER, S. S. & MCGUFFIN, P. (1998). Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 52, 44-9.
-
(1998)
Genomics
, vol.52
, pp. 44-49
-
-
O'Donovan, M.C.1
Oefner, P.J.2
Roberts, S.C.3
Austin, J.4
Hoogendoorn, B.5
Guy, C.6
Speight, G.7
Upadhyaya, M.8
Sommer, S.S.9
Mcguffin, P.10
-
19
-
-
0025768465
-
Epidemiology of tuberous sclerosis
-
OSBORNE, J. P., FRYER, A. & WEBB, D. (1991). Epidemiology of tuberous sclerosis. Ann. N.Y. Acad. Sci. 615, 125-7.
-
(1991)
Ann. N.Y. Acad. Sci.
, vol.615
, pp. 125-127
-
-
Osborne, J.P.1
Fryer, A.2
Webb, D.3
-
20
-
-
0028198386
-
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
-
RAVNIK-GLAVAC, M., GLAVAC, D. & DEAN, M. (1994). Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene. Hum. Mol. Genet. 3, 801-7.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 801-807
-
-
Ravnik-Glavac, M.1
Glavac, D.2
Dean, M.3
-
21
-
-
0032438210
-
Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
-
ROACH, E. S., GOMEZ, M. R. & NORTHBUP, H. (1998). Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J. Child. Neur. 13, 624-628.
-
(1998)
J. Child. Neur.
, vol.13
, pp. 624-628
-
-
Roach, E.S.1
Gomez, M.R.2
Northbup, H.3
-
22
-
-
16944367389
-
Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene
-
SAMPSON, J. R., MAHESHWAR, M. M., ASPINWALL, R., THOMPSON, P., CHEADLE, J. P., RAVINE, D., ROY, S., HAAN, E., BERNSTEIN, J. & HARRIS, P.C. (1997). Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am. J. Hum. Genet. 61, 843-51.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 843-851
-
-
Sampson, J.R.1
Maheshwar, M.M.2
Aspinwall, R.3
Thompson, P.4
Cheadle, J.P.5
Ravine, D.6
Roy, S.7
Haan, E.8
Bernstein, J.9
Harris, P.C.10
-
23
-
-
0030660620
-
Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
-
UNDERHILL, P. A., JIN, L., LIN, A. A., MEHDI, S. Q., JENKINS, T., VOLLRATH, D., DAVIS, R. W., CAVALLISFORZA, L. L. & OEFNER, P. J. (1997). Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res. 7, 996-1005.
-
(1997)
Genome Res.
, vol.7
, pp. 996-1005
-
-
Underhill, P.A.1
Jin, L.2
Lin, A.A.3
Mehdi, S.Q.4
Jenkins, T.5
Vollrath, D.6
Davis, R.W.7
Cavallisforza, L.L.8
Oefner, P.J.9
-
24
-
-
0030767265
-
Mutations in the TSC2 gene: Analysis of the complete coding sequence using the protein truncation test (PTT)
-
VAN BAKEL, I., SEPP, T., WARD, S., YATES, J. R. & GREEN, A. J. (1997). Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT). Hum. Mol Genet. 6, 1409-14.
-
(1997)
Hum. Mol Genet.
, vol.6
, pp. 1409-1414
-
-
Van Bakel, I.1
Sepp, T.2
Ward, S.3
Yates, J.R.4
Green, A.J.5
-
25
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
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, R. G., CHEADLE, J. P., JONES, A. C., TACHATAKI, M., RAVINE, D. & KWIATKOWSKI, D. J. (1997). Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277, 805-8.
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
Nellist, M.4
Janssen, B.5
Verhoef, S.6
Lindhout, D.7
Van Den Ouweland, A.8
Halley, D.9
Young, J.10
Burley, M.11
Jeremiah, S.12
Woodward, K.13
Nahmias, J.14
Fox, M.15
Ekong, R.16
Osborne, J.17
Wolfe, J.18
Povey, S.19
Snell, R.G.20
Cheadle, J.P.21
Jones, A.C.22
Tachataki, M.23
Ravine, D.24
Kwiatkowski, D.J.25
more..
-
26
-
-
0032903806
-
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: No evidence for genotype-phenotype correlation
-
VAN SLEGTENHORST, M., VERHOEF, S., TEMPELAARS, A., BAKKER, L., WANG, Q., WESSELS, M., BAKKER, R., NELLIST, M., LINDHOUT, D., HALLEY, D. & VAN DEN OUWELAND, A. (1999). Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. J. Med. Genet. 36, 285-9.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 285-289
-
-
Van Slegtenhorst, M.1
Verhoef, S.2
Tempelaars, A.3
Bakker, L.4
Wang, Q.5
Wessels, M.6
Bakker, R.7
Nellist, M.8
Lindhout, D.9
Halley, D.10
Van Den Ouweland, A.11
-
27
-
-
0031697622
-
A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients
-
YOUNG, J. M., BURLEY, M. W., JEREMIAH, S. J., JEGANATHAN, D., EKONG, R., OSBORNE, J. P. & POVEY, S. (1998). A mutation screen of the TSC1 gene reveals 26 protein truncating mutations and 1 splice site mutation in a panel of 79 tuberous sclerosis patients. Ann. Hum. Genet. 62, 203-13.
-
(1998)
Ann. Hum. Genet.
, vol.62
, pp. 203-213
-
-
Young, J.M.1
Burley, M.W.2
Jeremiah, S.J.3
Jeganathan, D.4
Ekong, R.5
Osborne, J.P.6
Povey, S.7
|