-
1
-
-
0028243747
-
Two NF1 mutations: Frameshift in the GAP-related domain and loss of two codons toward the 3′ end of the gene
-
Abernathy, C.R., Colman, S.D., Kouseff, B.G. and Wallace, M.R. (1994) Two NF1 mutations: Frameshift in the GAP-related domain and loss of two codons toward the 3′ end of the gene. Hum. Mutation 3, 347-352.
-
(1994)
Hum. Mutation
, vol.3
, pp. 347-352
-
-
Abernathy, C.R.1
Colman, S.D.2
Kouseff, B.G.3
Wallace, M.R.4
-
2
-
-
0027159594
-
Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene
-
Ainsworth, P.J., Rodenhiser, D.I. and Costa, M.T. (1993) Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene. Hum. Genet., 91, 151-156.
-
(1993)
Hum. Genet.
, vol.91
, pp. 151-156
-
-
Ainsworth, P.J.1
Rodenhiser, D.I.2
Costa, M.T.3
-
3
-
-
0027502579
-
Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines
-
Andersen, L.B., Fountain, J.W., Gutmann, D.H., Tarle, S.A., Glover, T.W., Dracopoli, N.C., Housman, D.E. and Collins, F.S. (1993) Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. Nature Genet. 3, 118-121.
-
(1993)
Nature Genet.
, vol.3
, pp. 118-121
-
-
Andersen, L.B.1
Fountain, J.W.2
Gutmann, D.H.3
Tarle, S.A.4
Glover, T.W.5
Dracopoli, N.C.6
Housman, D.E.7
Collins, F.S.8
-
4
-
-
0029880030
-
Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: The site of the recurrent substitution mutation in exon 31
-
Andrews, J.D., Mancini, D.N., Singh, S.M. and Rodenhiser, D.I. (1996) Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31. Hum. Mol. Genet., 5, 503-508.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 503-508
-
-
Andrews, J.D.1
Mancini, D.N.2
Singh, S.M.3
Rodenhiser, D.I.4
-
5
-
-
0027265968
-
A new disease- causing mutation in the GAP-related domain of the NF1 gene
-
Anglani, F., Murgia, A., Bedin, S., Bresin, E., Bernardi, F., Clementi, M. and Tenconi, R. (1993) A new disease- causing mutation in the GAP-related domain of the NF1 gene. Hum. Mol. Genet., 2, 1057-1059.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1057-1059
-
-
Anglani, F.1
Murgia, A.2
Bedin, S.3
Bresin, E.4
Bernardi, F.5
Clementi, M.6
Tenconi, R.7
-
6
-
-
0028841659
-
Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene
-
Boddrich, A., Griesser, J., Horn, D., Kaufmann, D., Krone, W. and Nurnberg, P. (1995) Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene. Biochem. Biophys. Res. Commun., 214, 895-904.
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.214
, pp. 895-904
-
-
Boddrich, A.1
Griesser, J.2
Horn, D.3
Kaufmann, D.4
Krone, W.5
Nurnberg, P.6
-
7
-
-
0027327067
-
The pattern of spontaneous germline mutation: Relative rates of mutation at or near CpG dinucleotides in the factor IX gene
-
Bottema, C.D., Ketterling, R.P., Vielhaber, E., Yoon, H.S., Gostout, B., Jacobson, D.P., Shapiro, A. and Sommer, S.S. (1993) The pattern of spontaneous germline mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene. Hum. Genet., 91, 496-503.
-
(1993)
Hum. Genet.
, vol.91
, pp. 496-503
-
-
Bottema, C.D.1
Ketterling, R.P.2
Vielhaber, E.3
Yoon, H.S.4
Gostout, B.5
Jacobson, D.P.6
Shapiro, A.7
Sommer, S.S.8
-
8
-
-
0024397105
-
Short direct repeats at the breakpoints of the retinoblastoma gene
-
Canning, S. and Dryja, T.P. (1989) Short direct repeats at the breakpoints of the retinoblastoma gene. Proc. Natl. Acad. Sci. USA, 86, 5044-5048.
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 5044-5048
-
-
Canning, S.1
Dryja, T.P.2
-
9
-
-
0025326726
-
A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations
-
Cawthon, R.W., Weiss, R., Xu, G., Viskochil, D., Culver, M., Stevens, J., Robertson, M., Dunn, D., Gesteland, R., O'Connell, P. and White, R. (1990) A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell, 62, 193-203.
-
(1990)
Cell
, vol.62
, pp. 193-203
-
-
Cawthon, R.W.1
Weiss, R.2
Xu, G.3
Viskochil, D.4
Culver, M.5
Stevens, J.6
Robertson, M.7
Dunn, D.8
Gesteland, R.9
O'Connell, P.10
White, R.11
-
10
-
-
0029036310
-
CpNpG methylation in mammalian cells
-
Clark, S.J., Harrison, J. and Frommer, M. (1995) CpNpG methylation in mammalian cells. Nature Genet., 10, 20-27.
-
(1995)
Nature Genet.
, vol.10
, pp. 20-27
-
-
Clark, S.J.1
Harrison, J.2
Frommer, M.3
-
11
-
-
0027486340
-
Characterization of the single base-pair deletion in neurofibromatosis type 1
-
Colman, S.D., Collins, F.S. and Wallace, M.R. (1993) Characterization of the single base-pair deletion in neurofibromatosis type 1. Hum. Mol. Genet., 2, 1709-1711.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1709-1711
-
-
Colman, S.D.1
Collins, F.S.2
Wallace, M.R.3
-
12
-
-
0023853921
-
The CpG dinucleotide in human genetic disease
-
Cooper, D.N. and Youssoufian, H. (1988) The CpG dinucleotide in human genetic disease. Hum. Genet., 78, 151-155.
-
(1988)
Hum. Genet.
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufian, H.2
-
13
-
-
0027379865
-
An analysis of variation in expression of neurofibromatosis type 1(NF1): Evidence of modifying genes
-
Easton, D.F., Ponder, M.A., Huson, S.M. and Ponder, B.A.J. (1993) An analysis of variation in expression of neurofibromatosis type 1(NF1): evidence of modifying genes. Am. J. Hum. Genet., 53, 305-313.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 305-313
-
-
Easton, D.F.1
Ponder, M.A.2
Huson, S.M.3
Ponder, B.A.J.4
-
14
-
-
0026410608
-
Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1
-
Estivill, X., Lazaro, C., Casals, T., Ravella, A. (1991) Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1. Hum. Genet., 88, 185-188.
-
(1991)
Hum. Genet.
, vol.88
, pp. 185-188
-
-
Estivill, X.1
Lazaro, C.2
Casals, T.3
Ravella, A.4
-
15
-
-
0028244557
-
Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan
-
Hatta, N., Horiuchi, T. and Fujita, S. (1994) Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan. Biochem. Biophys. Res. Commun., 199, 207-212.
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.199
, pp. 207-212
-
-
Hatta, N.1
Horiuchi, T.2
Fujita, S.3
-
16
-
-
0029002475
-
Distribution of 13 truncating mutations in the neurofibromatosis 1 gene
-
Heim, R.A., Kam-Morgan, L.N., Binnie, C.G., Corns, D.D., Cayouette, M.C., Farber, R.A., Aylsworth, A.S., Silverman, L.M. and Luce, M.C. (1995) Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum. Mol. Genet., 4, 975-981.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 975-981
-
-
Heim, R.A.1
Kam-Morgan, L.N.2
Binnie, C.G.3
Corns, D.D.4
Cayouette, M.C.5
Farber, R.A.6
Aylsworth, A.S.7
Silverman, L.M.8
Luce, M.C.9
-
17
-
-
0026715056
-
Chaos game representation of coding regions of human globin genes and alcohol dehydrogenase genes of phylogenetically divergent species
-
Hill, K.A., Schisler, N.J. and Singh, S.M. (1992) Chaos game representation of coding regions of human globin genes and alcohol dehydrogenase genes of phylogenetically divergent species. J. Mol. Evol., 35, 261-269.
-
(1992)
J. Mol. Evol.
, vol.35
, pp. 261-269
-
-
Hill, K.A.1
Schisler, N.J.2
Singh, S.M.3
-
18
-
-
0027957841
-
Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese
-
Horiuchi, T., Hatta, N., Matsumoto, M., Ohtsuka, H., Collins, F.S., Kobayashi, Y. and Fujita, S. (1994) Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese. Hum. Genet., 93, 81-83.
-
(1994)
Hum. Genet.
, vol.93
, pp. 81-83
-
-
Horiuchi, T.1
Hatta, N.2
Matsumoto, M.3
Ohtsuka, H.4
Collins, F.S.5
Kobayashi, Y.6
Fujita, S.7
-
19
-
-
0024205878
-
Von Recklinghausen neurofibromatosis: A clinical and population study in south-east Wales
-
Huson, S.M., Harper, P.S., Compton, D.A.S. (1988) Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales. Brain, 111, 1355-1381.
-
(1988)
Brain
, vol.111
, pp. 1355-1381
-
-
Huson, S.M.1
Harper, P.S.2
Compton, D.A.S.3
-
20
-
-
0024456038
-
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity
-
Huson, S.M., Compston, D.A., Clark, P. and Harper, P.S. (1989) A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J. Med. Genet., 26, 704-711.
-
(1989)
J. Med. Genet.
, vol.26
, pp. 704-711
-
-
Huson, S.M.1
Compston, D.A.2
Clark, P.3
Harper, P.S.4
-
21
-
-
0025097932
-
Paternal origin of new mutations in von Recklinghausen neurofibromatosis
-
Jadayel, D., Fain, P., Upadyaya, M., Ponder, M.A., Huson, S.M., Carey, J., Fryer, A., C.G.P. Mathew, Barker, D.F. and Ponder, B.A.J. (1990) Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature, 343, 558-559.
-
(1990)
Nature
, vol.343
, pp. 558-559
-
-
Jadayel, D.1
Fain, P.2
Upadyaya, M.3
Ponder, M.A.4
Huson, S.M.5
Carey, J.6
Fryer, A.7
Mathew, C.G.P.8
Barker, D.F.9
Ponder, B.A.J.10
-
22
-
-
0027532034
-
Short direct repeats flanking deletions, and duplicating insertions in p53 gene in human cancers
-
Jego, N., Thomas, G. and Hamelin, R. (1993) Short direct repeats flanking deletions, and duplicating insertions in p53 gene in human cancers. Oncogene, 8, 209-213.
-
(1993)
Oncogene
, vol.8
, pp. 209-213
-
-
Jego, N.1
Thomas, G.2
Hamelin, R.3
-
23
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak, M. and Cooper, D.N. (1991) Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet., 86, 425-441.
-
(1991)
Hum. Genet.
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
24
-
-
0023009325
-
Frameshift mutagenesis by eucaryotic DNA polymerases in vitro
-
Kunkel, T.A. (1986) Frameshift mutagenesis by eucaryotic DNA polymerases in vitro. J. Biol. Chem., 261, 13581-13587.
-
(1986)
J. Biol. Chem.
, vol.261
, pp. 13581-13587
-
-
Kunkel, T.A.1
-
25
-
-
0025109103
-
Misalignment-mediated DNA synthesis errors
-
Kunkel, T.A. (1990) Misalignment-mediated DNA synthesis errors. Biochemistry, 29, 8003-8011.
-
(1990)
Biochemistry
, vol.29
, pp. 8003-8011
-
-
Kunkel, T.A.1
-
26
-
-
0028074299
-
DNA methylation and cancer
-
Laird, P.W., Jaenisch, R. (1994) DNA methylation and cancer. Hum. Mol. Gen., 3, 1487-1495.
-
(1994)
Hum. Mol. Gen.
, vol.3
, pp. 1487-1495
-
-
Laird, P.W.1
Jaenisch, R.2
-
27
-
-
0029117914
-
Two further cases of mutation R1947X in the NF1 gene: Screening for a relatively common recurrent mutation
-
Lazaro, C., Kruyer, H., Gaona, A. and Estivill, X. (1995) Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation. Hum. Genet., 96, 361-363.
-
(1995)
Hum. Genet.
, vol.96
, pp. 361-363
-
-
Lazaro, C.1
Kruyer, H.2
Gaona, A.3
Estivill, X.4
-
28
-
-
0026505197
-
Somatic mutations in the Neurofibromatosis 1 gene in human tumours
-
Li, Y., Bollag, G., Clark, R., Stevens, J., Conroy, L., Fults, D., Friedman, E., Samowitz, W., Robertson, M., Bradley, P., McCormick, F., White, R. and Cawthon, R.W. (1992) Somatic mutations in the Neurofibromatosis 1 gene in human tumours. Cell, 69, 275-281.
-
(1992)
Cell
, vol.69
, pp. 275-281
-
-
Li, Y.1
Bollag, G.2
Clark, R.3
Stevens, J.4
Conroy, L.5
Fults, D.6
Friedman, E.7
Samowitz, W.8
Robertson, M.9
Bradley, P.10
McCormick, F.11
White, R.12
Cawthon, R.W.13
-
29
-
-
0028928718
-
Genomic organization of the neurofibromatosis 1 gene (NF1)
-
Li, Y., O'Connell, P., Breidenbach, H.H., Cawthon, R., Stevens, J., Xu, G., Neil, S., Robertson, M., White, R. and Viskochil, D. (1995) Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics, 25, 9-18.
-
(1995)
Genomics
, vol.25
, pp. 9-18
-
-
Li, Y.1
O'Connell, P.2
Breidenbach, H.H.3
Cawthon, R.4
Stevens, J.5
Xu, G.6
Neil, S.7
Robertson, M.8
White, R.9
Viskochil, D.10
-
30
-
-
0026319619
-
cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product
-
Marchuk, D.A., Saulino, A.M., Tavakkol, R., Swaroop, M., Wallace, M.R., Andersen, L.B., Mitchell, A.L., Gutmann, D.H., Boguski, M. and Collins, F.S. (1991) cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics, 11, 931-940.
-
(1991)
Genomics
, vol.11
, pp. 931-940
-
-
Marchuk, D.A.1
Saulino, A.M.2
Tavakkol, R.3
Swaroop, M.4
Wallace, M.R.5
Andersen, L.B.6
Mitchell, A.L.7
Gutmann, D.H.8
Boguski, M.9
Collins, F.S.10
-
31
-
-
11944252481
-
Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients
-
Miyoshi, Y., Anso, H., Nagase, H. and 11 others (1993) Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc. Natl. Acad. Sci. USA., 89, 4452-4456.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 4452-4456
-
-
Miyoshi, Y.1
Anso, H.2
Nagase, H.3
-
32
-
-
0025167973
-
The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations
-
O'Connell, P., Viskochil, D., Buchberg, A.M., Fountain, J., Cawthon, R.W., Culver, M., Stevens, J., Rich, D.C., Ledbetter, D.H., Wallace, M.R., Carey, J.C., Jenkins, N.A., Copeland, N.G., Collins, F.S. and White, R. (1990) The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations. Genomics, 7, 547-554.
-
(1990)
Genomics
, vol.7
, pp. 547-554
-
-
O'Connell, P.1
Viskochil, D.2
Buchberg, A.M.3
Fountain, J.4
Cawthon, R.W.5
Culver, M.6
Stevens, J.7
Rich, D.C.8
Ledbetter, D.H.9
Wallace, M.R.10
Carey, J.C.11
Jenkins, N.A.12
Copeland, N.G.13
Collins, F.S.14
White, R.15
-
33
-
-
0028359659
-
Charactrization of inherited and sporadic mutations in neurofibromatosis type-1
-
Purandare, S.M., Lanyon, W.G. and Connor, J.M. (1994) Charactrization of inherited and sporadic mutations in neurofibromatosis type-1. Hum. Mol. Genet., 3, 1109-1115.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1109-1115
-
-
Purandare, S.M.1
Lanyon, W.G.2
Connor, J.M.3
-
34
-
-
0028308492
-
p53 mutations in pancreatic carcinoma and evidence of common involvement of homocopolymer tracts in DNA microdeletions
-
Redston, M.S., Caldas, C., Seymour, A.B., Hruban, R.H., da Costa, L., Yeo, C.J. and Kern, S.E. (1994) p53 mutations in pancreatic carcinoma and evidence of common involvement of homocopolymer tracts in DNA microdeletions. Cancer Res., 54, 3025-3033.
-
(1994)
Cancer Res.
, vol.54
, pp. 3025-3033
-
-
Redston, M.S.1
Caldas, C.2
Seymour, A.B.3
Hruban, R.H.4
Da Costa, L.5
Yeo, C.J.6
Kern, S.E.7
-
35
-
-
0027427198
-
Gentype, malleotype, phenotype and randomness: Lessons from neurofibromatosis-1 (NF1)
-
Riccardi, V.M. (1993) Gentype, malleotype, phenotype and randomness: lessons from neurofibromatosis-1 (NF1). Am. J. Hum. Genet., 53, 301-314.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 301-314
-
-
Riccardi, V.M.1
-
36
-
-
0029036382
-
Two recurrent non-sense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene
-
Robinson, P.N., Boddrich, A., Peters, H., Tinschert, S., Buske, A., Kaufmann, D. and Nurnberg, P. (1995a) Two recurrent non-sense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene. Hum. Genet., 96, 95-98.
-
(1995)
Hum. Genet.
, vol.96
, pp. 95-98
-
-
Robinson, P.N.1
Boddrich, A.2
Peters, H.3
Tinschert, S.4
Buske, A.5
Kaufmann, D.6
Nurnberg, P.7
-
37
-
-
0343389862
-
A recurrent 2bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis
-
in press
-
Robinson, P.N., Buske, A., Tinschert, S., Neumann, R. and Nurnberg, P. (1995b) A recurrent 2bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis. Hum. Mutation, in press.
-
(1995)
Hum. Mutation
-
-
Robinson, P.N.1
Buske, A.2
Tinschert, S.3
Neumann, R.4
Nurnberg, P.5
-
38
-
-
0027399675
-
Evidence of DNA methylation in the Neurofibromatosis type 1 (NF1) gene region of 17q11.2
-
Rodenhiser, D.I., Coulter-Mackie, M.B. and Singh, S.M. (1993) Evidence of DNA methylation in the Neurofibromatosis type 1 (NF1) gene region of 17q11.2. Hum. Mol. Genet., 2(3), 439-444.
-
(1993)
Hum. Mol. Genet.
, vol.2
, Issue.3
, pp. 439-444
-
-
Rodenhiser, D.I.1
Coulter-Mackie, M.B.2
Singh, S.M.3
-
39
-
-
0342520224
-
A five base pair deletion in a direct-repeat region within exon 39 of the Neurofibromatosis type 1 (NF1) gene
-
in press
-
Rodenhiser, D.I., Hovland, K., Andrews, J., Jung, J.H., Gillett, J.M.R., Ainsworth, P.J., Coulter-Mackie, M. and Singh, S.M. (1996a) A five base pair deletion in a direct-repeat region within exon 39 of the Neurofibromatosis type 1 (NF1) gene. Hum. Mutation, in press.
-
(1996)
Hum. Mutation
-
-
Rodenhiser, D.I.1
Hovland, K.2
Andrews, J.3
Jung, J.H.4
Gillett, J.M.R.5
Ainsworth, P.J.6
Coulter-Mackie, M.7
Singh, S.M.8
-
40
-
-
0029666432
-
Heterogeneous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs
-
in press
-
Rodenhiser, D.I., Chakraborty, P.K., Andrews, J.D., Ainsworth, P.J., Mancini, D.N., Lopes, E., Singh, S.M. (1996b) Heterogeneous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs. Oncogene. in press.
-
(1996)
Oncogene
-
-
Rodenhiser, D.I.1
Chakraborty, P.K.2
Andrews, J.D.3
Ainsworth, P.J.4
Mancini, D.N.5
Lopes, E.6
Singh, S.M.7
-
41
-
-
0004116973
-
-
Thieme, Stuttgart, New York
-
Rubenstein, A.E. and Korf, B.R. (1990) Neurofibromatosis: A Handbook for Patients, Families and Health-Care Professionals. Thieme, Stuttgart, New York.
-
(1990)
Neurofibromatosis: A Handbook for Patients, Families and Health-Care Professionals
-
-
Rubenstein, A.E.1
Korf, B.R.2
-
42
-
-
0026542473
-
Slippage synthesis of simple sequence DNA
-
Schlotterer, C. and Tautz, D. (1992) Slippage synthesis of simple sequence DNA. Nucleic Acids Res., 20, 211-215
-
(1992)
Nucleic Acids Res.
, vol.20
, pp. 211-215
-
-
Schlotterer, C.1
Tautz, D.2
-
43
-
-
0029095974
-
Base excision repair of U:G mismatches at a mutational hotspot in the p53 gene is more efficient than base excision repair of T:G mismatches in extracts of human colon tumours
-
Schmutte, C., Yang, A.S., Beart, R.W. and Jones, P.A. (1995) Base excision repair of U:G mismatches at a mutational hotspot in the p53 gene is more efficient than base excision repair of T:G mismatches in extracts of human colon tumours. Cancer Res., 55, 3742-3746.
-
(1995)
Cancer Res.
, vol.55
, pp. 3742-3746
-
-
Schmutte, C.1
Yang, A.S.2
Beart, R.W.3
Jones, P.A.4
-
44
-
-
0027528817
-
NF1: A prevalent cause of tumorigenesis in human cancers?
-
Seizinger, B.R. (1993) NF1: a prevalent cause of tumorigenesis in human cancers? Nature Genet., 3, 97-99.
-
(1993)
Nature Genet.
, vol.3
, pp. 97-99
-
-
Seizinger, B.R.1
-
45
-
-
0028834145
-
A collaborative survey of 80 mutations in the BrCa1 Breast and ovarian cancer susceptibility gene
-
Shattuck-Eidens, McClure, M. and 40 other authors (1995) A collaborative survey of 80 mutations in the BrCa1 Breast and ovarian cancer susceptibility gene. JAMA, 273, 535-541.
-
(1995)
JAMA
, vol.273
, pp. 535-541
-
-
Shattuck-Eidens1
McClure, M.2
-
46
-
-
0027422820
-
A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene
-
Shen, M.H. and Upadhyaya, M. (1993) A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene. Hum. Genet., 92, 410-412.
-
(1993)
Hum. Genet.
, vol.92
, pp. 410-412
-
-
Shen, M.H.1
Upadhyaya, M.2
-
47
-
-
0027375458
-
Neurofibromatosis type 1 (NF1): The search for mutations by PCR-heteroduplex analysis on Hydrolink gels
-
Shen, M.H., Harper, P.S. and Upadhyaya, M. (1993) Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels. Hum. Mol. Genet., 2, 1861-1864.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1861-1864
-
-
Shen, M.H.1
Harper, P.S.2
Upadhyaya, M.3
-
48
-
-
0027014233
-
DNA structure, mutations and human genetic disease
-
Sinden, R.R. and Wells, R.D. (1992) DNA structure, mutations and human genetic disease. Curr. Opin. Biotech., 3, 612-622.
-
(1992)
Curr. Opin. Biotech.
, vol.3
, pp. 612-622
-
-
Sinden, R.R.1
Wells, R.D.2
-
49
-
-
0027306173
-
Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair
-
Strand, M., Prolla, T.A., Liskay, R.M. and Petes, T.D. (1993) Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature, 365, 274-276.
-
(1993)
Nature
, vol.365
, pp. 274-276
-
-
Strand, M.1
Prolla, T.A.2
Liskay, R.M.3
Petes, T.D.4
-
50
-
-
0013997442
-
Frameshift mutation and the genetic code
-
Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzahgi, E., Inouye, I. (1966) Frameshift mutation and the genetic code. Cold Spring Harbor Symp. Quant. Biol., 31, 77-86.
-
(1966)
Cold Spring Harbor Symp. Quant. Biol.
, vol.31
, pp. 77-86
-
-
Streisinger, G.1
Okada, Y.2
Emrich, J.3
Newton, J.4
Tsugita, A.5
Terzahgi, E.6
Inouye, I.7
-
51
-
-
0027363277
-
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome
-
Tassebehji, M., Strachan, T., Sharland, M., Colley, A., Donnai, D., Harris, R. and Thakker, N. (1993) Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am. J. Hum. Genet., 53, 90-95.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 90-95
-
-
Tassebehji, M.1
Strachan, T.2
Sharland, M.3
Colley, A.4
Donnai, D.5
Harris, R.6
Thakker, N.7
-
52
-
-
0027439597
-
Neurofibromatosis type 1 gene mutations in neuroblastoma
-
The I., Murthy, A.E., Hannigan, G.E., Jacoby, L.B., Menon, A.G., Gusella and J.F., Bernards, A. (1993) Neurofibromatosis type 1 gene mutations in neuroblastoma. Nature Genet., 3, 62-66.
-
(1993)
Nature Genet.
, vol.3
, pp. 62-66
-
-
The, I.1
Murthy, A.E.2
Hannigan, G.E.3
Jacoby, L.B.4
Menon, A.G.5
Gusella, J.F.6
Bernards, A.7
-
53
-
-
0029027343
-
Complete and tissue-independent methylation of CpG site in the p53 gene: Implications for mutations in human cancers
-
Tornaletti, S. and Pfeifer, G.P. (1995) Complete and tissue-independent methylation of CpG site in the p53 gene: implications for mutations in human cancers. Oncogene, 10, 1493-1499.
-
(1995)
Oncogene
, vol.10
, pp. 1493-1499
-
-
Tornaletti, S.1
Pfeifer, G.P.2
-
54
-
-
0027029581
-
Analysis of mutations at the neurofibromatosis 1 (NF1) locus
-
Upadhyaya, M., Shen, M., Cherryson, A., Farnham, J., Maynard, J., Huson, S.M. and Harper, P.S. (1992) Analysis of mutations at the neurofibromatosis 1 (NF1) locus. Hum. Mol. Genet., 1, 735-740.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 735-740
-
-
Upadhyaya, M.1
Shen, M.2
Cherryson, A.3
Farnham, J.4
Maynard, J.5
Huson, S.M.6
Harper, P.S.7
-
55
-
-
0028120348
-
Molecular basis of Neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene
-
Upadhyaya, M., Shaw, D.J. and Harper, P.S. (1994) Molecular basis of Neurofibromatosis type 1 (NF1): Mutation analysis and polymorphisms in the NF1 gene. Hum. Mutation, 4, 83-101.
-
(1994)
Hum. Mutation
, vol.4
, pp. 83-101
-
-
Upadhyaya, M.1
Shaw, D.J.2
Harper, P.S.3
-
56
-
-
0026693145
-
Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene
-
Xu, G., O'Connell, P., Stevens, J., White, R. (1992) Characterization of human adenylate kinase 3 (AK3) cDNA and mapping of the AK3 pseudogene to an intron of the NF1 gene. Genomics, 13, 537-542.
-
(1992)
Genomics
, vol.13
, pp. 537-542
-
-
Xu, G.1
O'Connell, P.2
Stevens, J.3
White, R.4
-
57
-
-
0027296888
-
Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis
-
Zhong, J., Spiegel, R., Boltshauser, E. and Schmid, W. (1993) Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis. Hum. Mol. Genet., 2, 1491-1492.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1491-1492
-
-
Zhong, J.1
Spiegel, R.2
Boltshauser, E.3
Schmid, W.4
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