-
1
-
-
4744346566
-
Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1
-
Balogh, K., Patocs, A., Majnik, J., Racz, K., & Hunyady, L. (2004). Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1. Molecular Genetics and Metabolism, 83(1-2), 74-81.
-
(2004)
Molecular Genetics and Metabolism
, vol.83
, Issue.1-2
, pp. 74-81
-
-
Balogh, K.1
Patocs, A.2
Majnik, J.3
Racz, K.4
Hunyady, L.5
-
2
-
-
9144231281
-
-
Hofstra, R. M., Mulder, I. M., Vossen, R., de Koning-Gans, P. A., Kraak, M., Ginjaar, I. B., van der Hout, A. H., Bakker, E., Buys, C. H., van Ommen, G. J., van Essen, A. J., & den Dunnen, J. T. (2004). DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Human Mutation, 23(1), 57-66.
-
Hofstra, R. M., Mulder, I. M., Vossen, R., de Koning-Gans, P. A., Kraak, M., Ginjaar, I. B., van der Hout, A. H., Bakker, E., Buys, C. H., van Ommen, G. J., van Essen, A. J., & den Dunnen, J. T. (2004). DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Human Mutation, 23(1), 57-66.
-
-
-
-
3
-
-
13444257350
-
Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide
-
Buzin, C. H., Feng, J., Yan, J., Scaringe, W., Liu, Q., den Dunnen, J., Mendell, J. R., & Sommer, S. S. (2005). Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide. Human Mutation, 25(2), 177-188.
-
(2005)
Human Mutation
, vol.25
, Issue.2
, pp. 177-188
-
-
Buzin, C.H.1
Feng, J.2
Yan, J.3
Scaringe, W.4
Liu, Q.5
den Dunnen, J.6
Mendell, J.R.7
Sommer, S.S.8
-
4
-
-
30344482510
-
Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: Point mutation detection
-
Hamed, S. A., & Hoffman, E. P. (2006). Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: Point mutation detection. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 141(1), 44-50.
-
(2006)
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
, vol.141
, Issue.1
, pp. 44-50
-
-
Hamed, S.A.1
Hoffman, E.P.2
-
5
-
-
0034540901
-
2157delG: A frequent mutation in BRCA2 missed by PTT
-
Davies, J. F., Redmond, E. K., Cox, M. C., Lalloo, F. I., Elles, R., & Evans, D. G. (2000). 2157delG: A frequent mutation in BRCA2 missed by PTT. Journal of Medical Genetics, 37, e42.
-
(2000)
Journal of Medical Genetics
, vol.37
-
-
Davies, J.F.1
Redmond, E.K.2
Cox, M.C.3
Lalloo, F.I.4
Elles, R.5
Evans, D.G.6
-
6
-
-
1642591341
-
Biochemical method for mapping mutational alterations in DNA with S1 nuclease: The location of deletions and temperaturesensitive mutations in simian virus 40
-
Shenk, T. E., Rhodes, C., Rigby, P. W., & Berg, P. (1975). Biochemical method for mapping mutational alterations in DNA with S1 nuclease: The location of deletions and temperaturesensitive mutations in simian virus 40. Proceedings of the National Academy of Sciences of the United States of America, 72(3), 989-993.
-
(1975)
Proceedings of the National Academy of Sciences of the United States of America
, vol.72
, Issue.3
, pp. 989-993
-
-
Shenk, T.E.1
Rhodes, C.2
Rigby, P.W.3
Berg, P.4
-
7
-
-
0034603787
-
Purification, cloning, and characterization of the CEL I nuclease
-
Yang, B., Wen, X., Kodali, N. S., Oleykowski, C. A., Miller, C. G., Kulinski, J., Besack, D., Yeung, J. A., Kowalski, D., & Yeung, A. T. (2000). Purification, cloning, and characterization of the CEL I nuclease. Biochem, 39(13), 3533-3541.
-
(2000)
Biochem
, vol.39
, Issue.13
, pp. 3533-3541
-
-
Yang, B.1
Wen, X.2
Kodali, N.S.3
Oleykowski, C.A.4
Miller, C.G.5
Kulinski, J.6
Besack, D.7
Yeung, J.A.8
Kowalski, D.9
Yeung, A.T.10
-
8
-
-
31344466492
-
Temperature-mediated heteroduplex analysis for the detection of drug-resistant gene mutations in clinical isolates of Mycobacterium tuberculosis by denaturing HPLC, SURVEYOR nuclease
-
Shi, R., Otomo, K., Yamada, H., Tatsumi, T., & Sugawara, I. (2006). Temperature-mediated heteroduplex analysis for the detection of drug-resistant gene mutations in clinical isolates of Mycobacterium tuberculosis by denaturing HPLC, SURVEYOR nuclease. Microbes and Infection, 8(1), 128-135.
-
(2006)
Microbes and Infection
, vol.8
, Issue.1
, pp. 128-135
-
-
Shi, R.1
Otomo, K.2
Yamada, H.3
Tatsumi, T.4
Sugawara, I.5
-
9
-
-
33745282706
-
High-throughput TILLING for Arabidopsis
-
Till, B. J., Colbert, T., Codomo, C., Enns, L., Johnson, J., Reynolds, S. H., Henikoff, J. G., Greene, E. A., Steine, M. N., Comai, L., & Henikoff, S. (2006). High-throughput TILLING for Arabidopsis. Methods in Molecular Biology, 323, 127-135.
-
(2006)
Methods in Molecular Biology
, vol.323
, pp. 127-135
-
-
Till, B.J.1
Colbert, T.2
Codomo, C.3
Enns, L.4
Johnson, J.5
Reynolds, S.H.6
Henikoff, J.G.7
Greene, E.A.8
Steine, M.N.9
Comai, L.10
Henikoff, S.11
-
10
-
-
0347382439
-
Efficient target-selected mutagenesis in zebrafish
-
Wienholds, E., van Eeden, F. J., Kosters, M., Mudde, J., Plasterk, R. H., & Cuppen, E. (2003). Efficient target-selected mutagenesis in zebrafish. Genome Research, 13(2), 2700-2707.
-
(2003)
Genome Research
, vol.13
, Issue.2
, pp. 2700-2707
-
-
Wienholds, E.1
van Eeden, F.J.2
Kosters, M.3
Mudde, J.4
Plasterk, R.H.5
Cuppen, E.6
-
11
-
-
0032531834
-
Mutation detection using a novel plant endonuclease
-
Oleykowski, C. A., Bronson Mullins, C. R., Godwin, A. K., & Yeung, A. T. (1998). Mutation detection using a novel plant endonuclease. Nucleic Acids Research, 26(20), 4597-4602.
-
(1998)
Nucleic Acids Research
, vol.26
, Issue.20
, pp. 4597-4602
-
-
Oleykowski, C.A.1
Bronson Mullins, C.R.2
Godwin, A.K.3
Yeung, A.T.4
-
12
-
-
18444403762
-
Enzymatic mutation detection technologies
-
Yeung, A. T., Hattangadi, D., Blakesley, L., & Nicolas, E. (2005). Enzymatic mutation detection technologies. Biotechniques, 38(5), 749-58.
-
(2005)
Biotechniques
, vol.38
, Issue.5
, pp. 749-758
-
-
Yeung, A.T.1
Hattangadi, D.2
Blakesley, L.3
Nicolas, E.4
-
13
-
-
1842579613
-
Mutation detection using Surveyor nuclease
-
Shandilya, H., D'Alessio, J. M., O'Connor, K., Durocher, J., & Gerard, G. (2004). Mutation detection using Surveyor nuclease. Biotechniques, 36(4), 702-707.
-
(2004)
Biotechniques
, vol.36
, Issue.4
, pp. 702-707
-
-
Shandilya, H.1
D'Alessio, J.M.2
O'Connor, K.3
Durocher, J.4
Gerard, G.5
-
14
-
-
0043133693
-
Cystic fibrosis in Greece: Molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals
-
Kanavakis, E., Efthymiadou, A., Strofalis, S., Doudounakis, S., Traeger-Synodinos, J., & Tzetis, M. (2003). Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals. Clinical Genetics, 63(5), 400-409.
-
(2003)
Clinical Genetics
, vol.63
, Issue.5
, pp. 400-409
-
-
Kanavakis, E.1
Efthymiadou, A.2
Strofalis, S.3
Doudounakis, S.4
Traeger-Synodinos, J.5
Tzetis, M.6
-
15
-
-
18144441426
-
3′ Acceptor splice site mutation in intron 50 leads to mild Duchenne muscular dystrophy phenotype
-
Kekou, K., Florentin, L., & Metaxotou, C. (1998). 3′ Acceptor splice site mutation in intron 50 leads to mild Duchenne muscular dystrophy phenotype. Human Genetics. Supplement, 1, S209-S212.
-
(1998)
Human Genetics. Supplement
, vol.1
-
-
Kekou, K.1
Florentin, L.2
Metaxotou, C.3
-
16
-
-
0032988895
-
Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients
-
Kekou, K., Mavrou, A., Florentin, L., Youroukos, S., Zafiriou, D. I., Skouteli, H. N., & Metaxotou, C. (1999). Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients. European Journal of Human Genetics, 7(2), 179-187.
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.2
, pp. 179-187
-
-
Kekou, K.1
Mavrou, A.2
Florentin, L.3
Youroukos, S.4
Zafiriou, D.I.5
Skouteli, H.N.6
Metaxotou, C.7
-
17
-
-
0028951920
-
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease
-
Madsen, K. M., Hasholt, L., Sorensen, S. A., Fermer, M. L., & Dahl, N. (1995). Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease. Human Mutation, 5(3), 277-278.
-
(1995)
Human Mutation
, vol.5
, Issue.3
, pp. 277-278
-
-
Madsen, K.M.1
Hasholt, L.2
Sorensen, S.A.3
Fermer, M.L.4
Dahl, N.5
-
18
-
-
0027159735
-
Steroid 21-Hydroxylase deficiency: Two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
-
Wedell, A., & Luthman, H. (1993). Steroid 21-Hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Human Molecular Genetics, 2(5), 499-504.
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.5
, pp. 499-504
-
-
Wedell, A.1
Luthman, H.2
-
19
-
-
0042316754
-
Standardizing mutation nomenclature: Why bother?
-
den Dunnen, J. T., & Paalman, M. H. (2003). Standardizing mutation nomenclature: Why bother? Human Mutation, 22(3), 181-182.
-
(2003)
Human Mutation
, vol.22
, Issue.3
, pp. 181-182
-
-
den Dunnen, J.T.1
Paalman, M.H.2
-
20
-
-
3042525130
-
Mismatch cleavage by single-strand specific nucleases
-
Till, B. J., Burtner, C., Comai, L., & Henikoff, S. (2004). Mismatch cleavage by single-strand specific nucleases. Nucleic Acids Research, 32(8), 2632-2641.
-
(2004)
Nucleic Acids Research
, vol.32
, Issue.8
, pp. 2632-2641
-
-
Till, B.J.1
Burtner, C.2
Comai, L.3
Henikoff, S.4
-
21
-
-
0024021305
-
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
-
Cotton, R. G., Rodrigues, N. R., & Campbell, R. D. (1988). Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proceedings of the National Academy of Sciences of the United States of America, 85(12), 4397-4401.
-
(1988)
Proceedings of the National Academy of Sciences of the United States of America
, vol.85
, Issue.12
, pp. 4397-4401
-
-
Cotton, R.G.1
Rodrigues, N.R.2
Campbell, R.D.3
-
22
-
-
20344384545
-
-
Bannwarth, S., Procaccio, V., & Paquis-Flucklinger, V. (2005). Surveyor Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects 25(6), 575-582.
-
(2005)
Surveyor Nuclease: A new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects
, vol.25
, Issue.6
, pp. 575-582
-
-
Bannwarth, S.1
Procaccio, V.2
Paquis-Flucklinger, V.3
-
23
-
-
26244457159
-
A method for clone sequence confirmation using a mismatch-specific DNA endonuclease
-
Qiu, P., Shandilya, H., & Gerard, G. F. (2005). A method for clone sequence confirmation using a mismatch-specific DNA endonuclease. Molecular Biotechnology, 29(1), 11-18.
-
(2005)
Molecular Biotechnology
, vol.29
, Issue.1
, pp. 11-18
-
-
Qiu, P.1
Shandilya, H.2
Gerard, G.F.3
-
24
-
-
32944468710
-
A rapid and sensitive enzymatic method for epidermal growth factor receptor mutation screening
-
Janne, P. A., Borras, A. M., Kuang, Y., Rogers, A. M., Joshi, V. A., Liyanage, H., Lindeman, N., Lee, J. C., Halmos, B., Maher, E. A., Distel, R. J., Meyerson, M., & Johnson, B. E. (2006). A rapid and sensitive enzymatic method for epidermal growth factor receptor mutation screening. Clinical Cancer Research, 12(3 Pt 1), 751-758.
-
(2006)
Clinical Cancer Research
, vol.12
, Issue.3 PART 1
, pp. 751-758
-
-
Janne, P.A.1
Borras, A.M.2
Kuang, Y.3
Rogers, A.M.4
Joshi, V.A.5
Liyanage, H.6
Lindeman, N.7
Lee, J.C.8
Halmos, B.9
Maher, E.A.10
Distel, R.J.11
Meyerson, M.12
Johnson, B.E.13
-
25
-
-
33746766278
-
Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the readingframe rule
-
Aartsma-Rus, A., van Deutekom, J. C., Fokkema, I. F., Van Ommen, G. J., & den Dunnen, J. T. (2006). Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the readingframe rule. Muscle & Nerve, 34(2), 135-144.
-
(2006)
Muscle & Nerve
, vol.34
, Issue.2
, pp. 135-144
-
-
Aartsma-Rus, A.1
van Deutekom, J.C.2
Fokkema, I.F.3
Van Ommen, G.J.4
den Dunnen, J.T.5
|