-
1
-
-
24144499879
-
A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: Cystic fibrosis transmembrane conductance regulator gene as a model
-
Chou LS, Lyon E, Wittwer CT (2005) A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model. Am J Clin Pathol 124:330-338.
-
(2005)
Am J Clin Pathol
, vol.124
, pp. 330-338
-
-
Chou, L.S.1
Lyon, E.2
Wittwer, C.T.3
-
2
-
-
35648993557
-
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system
-
Dobrowolski SF, Ellingson CE, Caldovic L, Tuchman M (2007) Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system. Hum Mutat 28:1133-1140.
-
(2007)
Hum Mutat
, vol.28
, pp. 1133-1140
-
-
Dobrowolski, S.F.1
Ellingson, C.E.2
Caldovic, L.3
Tuchman, M.4
-
3
-
-
0034003411
-
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses
-
Dobson-Stone C, Cox RD, Lonie L, Southam L, Fraser M, Wise C, Bernier F, Hodgson S, Porter DE, Simpson AH, Monaco AP (2000) Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses. Eur J Hum Genet 8:24-32.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 24-32
-
-
Dobson-Stone, C.1
Cox, R.D.2
Lonie, L.3
Southam, L.4
Fraser, M.5
Wise, C.6
Bernier, F.7
Hodgson, S.8
Porter, D.E.9
Simpson, A.H.10
Monaco, A.P.11
-
4
-
-
11944267671
-
-
Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992) A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 29:841-846.
-
Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992) A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 29:841-846.
-
-
-
-
5
-
-
34447316428
-
Mosaicism in NF2 an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including MLPA
-
Evans DG, Ramsden R, Shenton A, Gokhale C, Bowers NL, Huson SM, Pichert G, Wallace A (2007) Mosaicism in NF2 an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including MLPA. J Med Genet 44:424-428.
-
(2007)
J Med Genet
, vol.44
, pp. 424-428
-
-
Evans, D.G.1
Ramsden, R.2
Shenton, A.3
Gokhale, C.4
Bowers, N.L.5
Huson, S.M.6
Pichert, G.7
Wallace, A.8
-
6
-
-
23044509486
-
Distinguishing different DNA heterozygotes by high-resolution melting
-
Graham R, Liew M, Meadows C, Lyon E, Wittwer CT (2005) Distinguishing different DNA heterozygotes by high-resolution melting. Clin Chem 51:1295-1298.
-
(2005)
Clin Chem
, vol.51
, pp. 1295-1298
-
-
Graham, R.1
Liew, M.2
Meadows, C.3
Lyon, E.4
Wittwer, C.T.5
-
7
-
-
0032764964
-
A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC
-
Gross E, Arnold N, Goette J, Schwarz-Boeger U, Kiechle M (1999) A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Hum Genet 105:72-78.
-
(1999)
Hum Genet
, vol.105
, pp. 72-78
-
-
Gross, E.1
Arnold, N.2
Goette, J.3
Schwarz-Boeger, U.4
Kiechle, M.5
-
8
-
-
26944451323
-
Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6
-
Hegde M, Blazo M, Chong B, Prior T, Richards C (2005) Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6. J Mol Diagn 7:525-534.
-
(2005)
J Mol Diagn
, vol.7
, pp. 525-534
-
-
Hegde, M.1
Blazo, M.2
Chong, B.3
Prior, T.4
Richards, C.5
-
9
-
-
0035114679
-
Low level mosaicism detectable by DHPLC but not by direct sequencing
-
Jones AC, Sampson JR, Cheadle JP (2001) Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mutat 17:233-234.
-
(2001)
Hum Mutat
, vol.17
, pp. 233-234
-
-
Jones, A.C.1
Sampson, J.R.2
Cheadle, J.P.3
-
10
-
-
0033917014
-
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis
-
Jones AC, Sampson JR, Hoogendoorn B, Cohen D, Cheadle JP (2000) Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Hum Genet 106:663-668.
-
(2000)
Hum Genet
, vol.106
, pp. 663-668
-
-
Jones, A.C.1
Sampson, J.R.2
Hoogendoorn, B.3
Cohen, D.4
Cheadle, J.P.5
-
11
-
-
33847407062
-
Mutation scanning the GJB1 gene with high-resolution melting analysis: Implications for mutation scanning of genes for Charcot-Marie-Tooth disease
-
Kennerson ML, Warburton T, Nelis E, Brewer M, Polly P, de Jonghe P, Timmerman V, Nicholson GA (2007) Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Clin Chem 53:349-352.
-
(2007)
Clin Chem
, vol.53
, pp. 349-352
-
-
Kennerson, M.L.1
Warburton, T.2
Nelis, E.3
Brewer, M.4
Polly, P.5
de Jonghe, P.6
Timmerman, V.7
Nicholson, G.A.8
-
12
-
-
0037323824
-
Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas
-
Kluwe L, Mautner V, Heinrich B, Dezube R, Jacoby LB, Friedrich RE, MacCollin M (2003) Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas. J Med Genet 40:109-114.
-
(2003)
J Med Genet
, vol.40
, pp. 109-114
-
-
Kluwe, L.1
Mautner, V.2
Heinrich, B.3
Dezube, R.4
Jacoby, L.B.5
Friedrich, R.E.6
MacCollin, M.7
-
13
-
-
13944281380
-
Screening for large mutations of the NF2 gene
-
Kluwe L, Nygren AO, Errami A, Heinrich B, Matthies C, Tatagiba M, Mautner V (2005) Screening for large mutations of the NF2 gene. Genes Chromosomes Cancer 42:384-391.
-
(2005)
Genes Chromosomes Cancer
, vol.42
, pp. 384-391
-
-
Kluwe, L.1
Nygren, A.O.2
Errami, A.3
Heinrich, B.4
Matthies, C.5
Tatagiba, M.6
Mautner, V.7
-
14
-
-
35348998396
-
-
Krypuy M, Ahmed AA, Etemadmoghadam D, Hyland SJ, Group AO, Brenton JD, Fox SB, Defazio A, Bowtell DD, Dobrovic A (2007) High resolution melting for mutation scanning of TP53 exons 5-8. BMC Cancer 31:168-180.
-
Krypuy M, Ahmed AA, Etemadmoghadam D, Hyland SJ, Group AO, Brenton JD, Fox SB, Defazio A, Bowtell DD, Dobrovic A (2007) High resolution melting for mutation scanning of TP53 exons 5-8. BMC Cancer 31:168-180.
-
-
-
-
15
-
-
33846641709
-
High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer
-
Krypuy M, Newnham GM, Thomas DM, Conron M, Dobrovic A (2006) High resolution melting analysis for the rapid and sensitive detection of mutations in clinical samples: KRAS codon 12 and 13 mutations in non-small cell lung cancer. BMC Cancer 6:295-306.
-
(2006)
BMC Cancer
, vol.6
, pp. 295-306
-
-
Krypuy, M.1
Newnham, G.M.2
Thomas, D.M.3
Conron, M.4
Dobrovic, A.5
-
16
-
-
3042651880
-
Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons
-
Liew M, Pryor R, Palais R, Meadows C, Erali M, Lyon E, Wittwer C (2004) Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Clin Chem 50:1156-1164.
-
(2004)
Clin Chem
, vol.50
, pp. 1156-1164
-
-
Liew, M.1
Pryor, R.2
Palais, R.3
Meadows, C.4
Erali, M.5
Lyon, E.6
Wittwer, C.7
-
17
-
-
0032520681
-
Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations
-
Liu W, Smith DI, Rechtzigel KJ, Thibodeau SN, James CD (1998) Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations. Nucleic Acids Res 26:1396-1400.
-
(1998)
Nucleic 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
-
18
-
-
29744432126
-
Mutation scanning of the RET protooncogene using high-resolution melting analysis
-
Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT (2006) Mutation scanning of the RET protooncogene using high-resolution melting analysis. Clin Chem 52:138-141.
-
(2006)
Clin Chem
, vol.52
, pp. 138-141
-
-
Margraf, R.L.1
Mao, R.2
Highsmith, W.E.3
Holtegaard, L.M.4
Wittwer, C.T.5
-
19
-
-
34247874785
-
RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis
-
Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT (2007) RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis. J Mol Diagn 9:184-196.
-
(2007)
J Mol Diagn
, vol.9
, pp. 184-196
-
-
Margraf, R.L.1
Mao, R.2
Highsmith, W.E.3
Holtegaard, L.M.4
Wittwer, C.T.5
-
20
-
-
0034880192
-
Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography
-
Marsh DJ, Theodosopoulos G, Howell V, Richardson AL, Benn DE, Proos AL, Eng C, Robinson BG (2001) Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography. Neoplasia 3:236-244.
-
(2001)
Neoplasia
, vol.3
, pp. 236-244
-
-
Marsh, D.J.1
Theodosopoulos, G.2
Howell, V.3
Richardson, A.L.4
Benn, D.E.5
Proos, A.L.6
Eng, C.7
Robinson, B.G.8
-
21
-
-
0029981434
-
The neuroimaging and clinical spectrum of neurofibromatosis 2
-
Mautner VF, Lindenau M, Baser ME, Hazim W, Tatagiba M, Haase W, Samii M, Wais R, Pulst SM (1996) The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery 38:880-885.
-
(1996)
Neurosurgery
, vol.38
, pp. 880-885
-
-
Mautner, V.F.1
Lindenau, M.2
Baser, M.E.3
Hazim, W.4
Tatagiba, M.5
Haase, W.6
Samii, M.7
Wais, R.8
Pulst, S.M.9
-
22
-
-
35648961269
-
Scanning the Cystic Fibrosis Transmembrane Conductance Regulator Gene Using High-Resolution DNA Melting Analysis
-
Montgomery J, Wittwer CT, Kent JO, Zhou L (2007) Scanning the Cystic Fibrosis Transmembrane Conductance Regulator Gene Using High-Resolution DNA Melting Analysis. Clin Chem 53:1891-1898.
-
(2007)
Clin Chem
, vol.53
, pp. 1891-1898
-
-
Montgomery, J.1
Wittwer, C.T.2
Kent, J.O.3
Zhou, L.4
-
23
-
-
0038545702
-
Somatic mosaicism in neurofibromatosis 2: Prevalence and risk of disease transmission to offspring
-
Moyhuddin A, Baser ME, Watson C, Purcell S, Ramsden RT, Heiberg A, Wallace AJ, Evans DG (2003) Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 40:459-463.
-
(2003)
J Med Genet
, vol.40
, pp. 459-463
-
-
Moyhuddin, A.1
Baser, M.E.2
Watson, C.3
Purcell, S.4
Ramsden, R.T.5
Heiberg, A.6
Wallace, A.J.7
Evans, D.G.8
-
24
-
-
0033938241
-
Signature-based analysis of MET proto-oncogene mutations using DHPLC
-
Nickerson ML, Weirich G, Zbar B, Schmidt LS (2000) Signature-based analysis of MET proto-oncogene mutations using DHPLC. Hum Mutat 16:68-76.
-
(2000)
Hum Mutat
, vol.16
, pp. 68-76
-
-
Nickerson, M.L.1
Weirich, G.2
Zbar, B.3
Schmidt, L.S.4
-
25
-
-
34249742160
-
The presence of germ line mosaicism in cleidocranial dysplasia
-
Pal T, Napierala D, Becker TA, Loscalzo M, Baldridge D, Lee B, Sutphen R (2007) The presence of germ line mosaicism in cleidocranial dysplasia. Clin Genet 71:589-591.
-
(2007)
Clin Genet
, vol.71
, pp. 589-591
-
-
Pal, T.1
Napierala, D.2
Becker, T.A.3
Loscalzo, M.4
Baldridge, D.5
Lee, B.6
Sutphen, R.7
-
26
-
-
0027937181
-
Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
-
Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52:450-461.
-
(1994)
Am J Med Genet
, vol.52
, pp. 450-461
-
-
Parry, D.M.1
Eldridge, R.2
Kaiser-Kupfer, M.I.3
Bouzas, E.A.4
Pikus, A.5
Patronas, N.6
-
27
-
-
34250658870
-
High-resolution DNA melting analysis for simple and efficient molecular diagnostics
-
Reed GH, Kent JO, Wittwer CT (2007) High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8:597-608.
-
(2007)
Pharmacogenomics
, vol.8
, pp. 597-608
-
-
Reed, G.H.1
Kent, J.O.2
Wittwer, C.T.3
-
28
-
-
4644245816
-
Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis
-
Reed GH, Wittwer CT (2004) Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis. Clin Chem 50:1748-1754.
-
(2004)
Clin Chem
, vol.50
, pp. 1748-1754
-
-
Reed, G.H.1
Wittwer, C.T.2
-
29
-
-
0027245423
-
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
-
Rouleau GA, Merel P, Lutchman M, Sanson M, Zucman J, Marineau C, Hoang-Xuan K, Demczuk S, Desmaze C, Plougastel B, Pulst SM, Lenoir G, Bijlsma E, Fahsold R, Dumanski J, de Jong P, Parry D, Eldridge R, Aurias A, Delattre O, Thomas G (1993) Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 363:515-521.
-
(1993)
Nature
, vol.363
, pp. 515-521
-
-
Rouleau, G.A.1
Merel, P.2
Lutchman, M.3
Sanson, M.4
Zucman, J.5
Marineau, C.6
Hoang-Xuan, K.7
Demczuk, S.8
Desmaze, C.9
Plougastel, B.10
Pulst, S.M.11
Lenoir, G.12
Bijlsma, E.13
Fahsold, R.14
Dumanski, J.15
de Jong, P.16
Parry, D.17
Eldridge, R.18
Aurias, A.19
Delattre, O.20
Thomas, G.21
more..
-
30
-
-
0033764160
-
Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene
-
Sestini R, Vivarelli R, Balestri P, Ammannati F, Montali E, Papi L (2000) Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene. Hum Genet 107:366-371.
-
(2000)
Hum Genet
, vol.107
, pp. 366-371
-
-
Sestini, R.1
Vivarelli, R.2
Balestri, P.3
Ammannati, F.4
Montali, E.5
Papi, L.6
-
31
-
-
0036802680
-
Testing for BRCA1 mutations: A cost-effectiveness analysis
-
Sevilla C, Moatti JP, Julian-Reynier C, Eisinger F, Stoppa-Lyonnet D, Bressac-de Paillerets B, Sobol H (2002) Testing for BRCA1 mutations: a cost-effectiveness analysis. Eur J Hum Genet 10:599-606.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 599-606
-
-
Sevilla, C.1
Moatti, J.P.2
Julian-Reynier, C.3
Eisinger, F.4
Stoppa-Lyonnet, D.5
Bressac-de Paillerets, B.6
Sobol, H.7
-
32
-
-
34848845055
-
Epidermal growth factor receptor mutation detection using high-resolution melting analysis predicts outcomes in patients with advanced non small cell lung cancer treated with gefitinib
-
Takano T, Ohe Y, Tsuta K, Fukui T, Sakamoto H, Yoshida T, Tateishi U, Nokihara H, Yamamoto N, Sekine I, Kunitoh H, Matsuno Y, Furuta K, Tamura T (2007) Epidermal growth factor receptor mutation detection using high-resolution melting analysis predicts outcomes in patients with advanced non small cell lung cancer treated with gefitinib. Clin Cancer Res 15:5385-5390.
-
(2007)
Clin Cancer Res
, vol.15
, pp. 5385-5390
-
-
Takano, T.1
Ohe, Y.2
Tsuta, K.3
Fukui, T.4
Sakamoto, H.5
Yoshida, T.6
Tateishi, U.7
Nokihara, H.8
Yamamoto, N.9
Sekine, I.10
Kunitoh, H.11
Matsuno, Y.12
Furuta, K.13
Tamura, T.14
-
33
-
-
0027405720
-
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
-
Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, Eldridge R, Kley N, Menon AG, Pulaski K, Haase VH, Ambrose CM, Munroe D, Bove C, Haines JL, Martuza RL, MacDonald ME, Seizinger BR, Short MP, Buckler AJ, Gusella JF (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 72:791-800.
-
(1993)
Cell
, vol.72
, pp. 791-800
-
-
Trofatter, J.A.1
MacCollin, M.M.2
Rutter, J.L.3
Murrell, J.R.4
Duyao, M.P.5
Parry, D.M.6
Eldridge, R.7
Kley, N.8
Menon, A.G.9
Pulaski, K.10
Haase, V.H.11
Ambrose, C.M.12
Munroe, D.13
Bove, C.14
Haines, J.L.15
Martuza, R.L.16
MacDonald, M.E.17
Seizinger, B.R.18
Short, M.P.19
Buckler, A.J.20
Gusella, J.F.21
more..
-
34
-
-
0030660620
-
Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
-
Underhill PA, Jin L, Lin AA, Mehdi SQ, Jenkins T, Vollrath D, Davis RW, Cavalli-Sforza LL, Oefner PJ (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
Cavalli-Sforza, L.L.8
Oefner, P.J.9
-
35
-
-
0038359432
-
High-resolution genotyping by amplicon melting analysis using LCGreen
-
Wittwer CT, Reed GH, Gundry CN, Vandersteen JG, Pryor RJ (2003) High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 49:853-860.
-
(2003)
Clin Chem
, vol.49
, pp. 853-860
-
-
Wittwer, C.T.1
Reed, G.H.2
Gundry, C.N.3
Vandersteen, J.G.4
Pryor, R.J.5
-
36
-
-
0035726850
-
Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography
-
Wu G, Wu W, Hegde M, Fawkner M, Chong B, Love D, Su LK, Lynch P, Snow K, Richards CS (2001) Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography. Genet Test 5:281-290.
-
(2001)
Genet Test
, vol.5
, pp. 281-290
-
-
Wu, G.1
Wu, W.2
Hegde, M.3
Fawkner, M.4
Chong, B.5
Love, D.6
Su, L.K.7
Lynch, P.8
Snow, K.9
Richards, C.S.10
|