-
1
-
-
77955662261
-
Molecular genetics of long QT syndrome
-
Bokil N.J., Baisden J.M., Radford D.J., Summers K.M. Molecular genetics of long QT syndrome. Mol Genet Metab 2010, 101:1-8.
-
(2010)
Mol Genet Metab
, vol.101
, pp. 1-8
-
-
Bokil, N.J.1
Baisden, J.M.2
Radford, D.J.3
Summers, K.M.4
-
3
-
-
0034609531
-
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
-
Splawski I., Shen J., Timothy K.W., et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000, 102:1178-1185.
-
(2000)
Circulation
, vol.102
, pp. 1178-1185
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
-
4
-
-
0036416041
-
DHPLC analysis of potassium ion channel genes in congenital long QT syndrome
-
Jongbloed R., Marcelis C., Velter C., Doevendans P., Geraedts J., Smeets H. DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat 2002, 20:382-391.
-
(2002)
Hum Mutat
, vol.20
, pp. 382-391
-
-
Jongbloed, R.1
Marcelis, C.2
Velter, C.3
Doevendans, P.4
Geraedts, J.5
Smeets, H.6
-
5
-
-
0242361611
-
Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome
-
Ning L., Moss A., Zareba W., et al. Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome. Genet Test 2003, 7:249-253.
-
(2003)
Genet Test
, vol.7
, pp. 249-253
-
-
Ning, L.1
Moss, A.2
Zareba, W.3
-
6
-
-
33747140711
-
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome
-
Millat G., Chevalier P., Restier-Miron L., et al. Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet 2006, 70:214-227.
-
(2006)
Clin Genet
, vol.70
, pp. 214-227
-
-
Millat, G.1
Chevalier, P.2
Restier-Miron, L.3
-
7
-
-
68949209933
-
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
-
Kapplinger J.D., Tester D.J., Salisbury B.A., et al. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 2009, 6:1297-1303.
-
(2009)
Heart Rhythm
, vol.6
, pp. 1297-1303
-
-
Kapplinger, J.D.1
Tester, D.J.2
Salisbury, B.A.3
-
8
-
-
62149125915
-
Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis
-
Millat G., Chanavat V., Rodriguez-Lafrasse C., Rousson R. Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis. Clin Biochem 2009, 42:491-499.
-
(2009)
Clin Biochem
, vol.42
, pp. 491-499
-
-
Millat, G.1
Chanavat, V.2
Rodriguez-Lafrasse, C.3
Rousson, R.4
-
9
-
-
77649232843
-
High resolution melting analysis for gene scanning
-
Erali M., Wittwer C.T. High resolution melting analysis for gene scanning. Methods 2010, 50:250-261.
-
(2010)
Methods
, vol.50
, pp. 250-261
-
-
Erali, M.1
Wittwer, C.T.2
-
10
-
-
0016266885
-
Recursion relation generation of probability profiles for specific-sequence macromolecules with long-range correlations
-
Poland D. Recursion relation generation of probability profiles for specific-sequence macromolecules with long-range correlations. Biopolymers 1974, 13:1859-1871.
-
(1974)
Biopolymers
, vol.13
, pp. 1859-1871
-
-
Poland, D.1
-
11
-
-
77949430843
-
High-resolution DNA melting analysis in clinical research and diagnostics
-
Montgomery J.L., Sanford L.N., Wittwer C.T. High-resolution DNA melting analysis in clinical research and diagnostics. Expert Rev Mol Diagn 2010, 10:219-240.
-
(2010)
Expert Rev Mol Diagn
, vol.10
, pp. 219-240
-
-
Montgomery, J.L.1
Sanford, L.N.2
Wittwer, C.T.3
-
12
-
-
67349087933
-
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene
-
Millat G., Chanavat V., Julia S., Crehalet H., Bouvagnet P., Rousson R. Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene. Clin Biochem 2009, 42:892-898.
-
(2009)
Clin Biochem
, vol.42
, pp. 892-898
-
-
Millat, G.1
Chanavat, V.2
Julia, S.3
Crehalet, H.4
Bouvagnet, P.5
Rousson, R.6
-
13
-
-
46249098884
-
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM
-
Lin S.Y., Su Y.N., Hung C.C., et al. Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM. BMC Med Genet 2008, 9:53.
-
(2008)
BMC Med Genet
, vol.9
, pp. 53
-
-
Lin, S.Y.1
Su, Y.N.2
Hung, C.C.3
-
14
-
-
45549092891
-
NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis
-
Sestini R., Provenzano A., Bacci C., et al. NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. Genet Test 2008, 12:311-318.
-
(2008)
Genet Test
, vol.12
, pp. 311-318
-
-
Sestini, R.1
Provenzano, A.2
Bacci, C.3
-
15
-
-
52249092845
-
Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Audrezet M.P., Dabricot A., Le Marechal C., Ferec C. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Mol Diagn 2008, 10:424-434.
-
(2008)
J Mol Diagn
, vol.10
, pp. 424-434
-
-
Audrezet, M.P.1
Dabricot, A.2
Le Marechal, C.3
Ferec, C.4
|