-
1
-
-
0028200804
-
-
Melki, J., Lefebvre, S., Burglen, L., Burlet, P., Clermont, O., Millasseau, P ., Reboullet, S., Bénichou, B., Zeviani, M., Paslier, D. L., Cohen, D., Weissenbach, J., Munnich, A., Science 1994, 264, 1474-1477.
-
(1994)
Science
, vol.264
, pp. 1474-1477
-
-
Melki, J.1
Lefebvre, S.2
Burglen, L.3
Burlet, P.4
Clermont, O.5
Millasseau, P.6
Reboullet, S.7
Bénichou, B.8
Zeviani, M.9
Paslier, D.L.10
Cohen, D.11
Weissenbach, J.12
Munnich, A.13
-
2
-
-
0036154959
-
-
Feldkötter, M., Schwarzer, V., Wirth, R., Wienker, T. F., Wirth, B., Am. J. Hum. Genet. 2002, 70, 358-368.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 358-368
-
-
Feldkötter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
3
-
-
0036942226
-
-
Ogino, S., Wilson, R. B., Hum. Genet. 2002, 111, 477-500.
-
(2002)
Hum. Genet.
, vol.111
, pp. 477-500
-
-
Ogino, S.1
Wilson, R.B.2
-
4
-
-
0037387885
-
-
Cusin, V., Clermont, O., Gćrard, B., Chantereau, D., Elison, J., J. Med. Genet. 2003, 40, e39-e42.
-
(2003)
J. Med. Genet.
, vol.40
-
-
Cusin, V.1
Clermont, O.2
Gćrard, B.3
Chantereau, D.4
Elison, J.5
-
5
-
-
34548165592
-
-
Kostova, F. V.,Williams, V. C., Heemskerk, J., Iannaccone, S., DiDonato, C., Swoboda, K., Maria, B. L., J. Child Neurol. 2007, 22, 926-945.
-
(2007)
J. Child Neurol.
, vol.22
, pp. 926-945
-
-
Kostova, F.V.1
Williams, V.C.2
Heemskerk, J.3
Iannaccone, S.4
DiDonato, C.5
Swoboda, K.6
Maria, B.L.7
-
6
-
-
0028904953
-
-
Zerres, K., Rudnik-Schöneborn, S., Arch. Neurol. 1995, 52, 518-523.
-
(1995)
Arch. Neurol.
, vol.52
, pp. 518-523
-
-
Zerres, K.1
Rudnik-Schöneborn, S.2
-
7
-
-
0032799998
-
-
Monani, U. R., Lorson, C. L., Parsons, D. W., Prior, T. W ., Androphy, E . J ., Burghes, A . H . M., McPherson, J. D., Hum. Mol. Genet. 1999, 8, 1177-1183.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
Prior, T.W.4
Androphy, E.J.5
Burghes, A.H.M.6
McPherson, J.D.7
-
8
-
-
45249106162
-
-
Lunn, M. R., Wang, C. H., Lancet 2008, 371, 2120-2133.
-
(2008)
Lancet
, vol.371
, pp. 2120-2133
-
-
Lunn, M.R.1
Wang, C.H.2
-
9
-
-
0028797783
-
-
Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Paslier, D. L., Frézal, J., Cohen, D., Weissenbach, J., Munnich, A., Melki, J., Cell 1995, 80, 155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
Paslier, D.L.11
Frézal, J.12
Cohen, D.13
Weissenbach, J.14
Munnich, A.15
Melki, J.16
-
10
-
-
0343267780
-
-
Bürglen, L., Lefebvre, S., Clermont, O., Burlet, P., Viollet, L., Cruaud, C., Munnish, A., Melki, J., Genomics 1996, 32, 479-482.
-
(1996)
Genomics
, vol.32
, pp. 479-482
-
-
Bürglen, L.1
Lefebvre, S.2
Clermont, O.3
Burlet, P.4
Viollet, L.5
Cruaud, C.6
Munnish, A.7
Melki, J.8
-
11
-
-
0033358719
-
-
Wirth, B., Herz, M., Wetter, A., Moskau, S., Hahnen, E., Rudnik-Schöneborn, S., Wienker, T., Zerres, K., Am. J. Hum. Genet. 1999, 64, 1340-1356.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1340-1356
-
-
Wirth, B.1
Herz, M.2
Wetter, A.3
Moskau, S.4
Hahnen, E.5
Rudnik-Schöneborn, S.6
Wienker, T.7
Zerres, K.8
-
13
-
-
0030985898
-
-
McAndrew, P. E., Parsons, D. W., Simard, L. R., Rochette, C., Ray, P. N., Mendell, J. R., Prior, T. W., Burphes, A. H. M., Am. J. Hum. Genet. 1997, 60, 1411-1422.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1411-1422
-
-
McAndrew, P.E.1
Parsons, D.W.2
Simard, L.R.3
Rochette, C.4
Ray, P.N.5
Mendell, J.R.6
Prior, T.W.7
Burphes, A.H.M.8
-
14
-
-
34249044534
-
-
Zapletalová, E., Hedvičá ková, P., Kozá k, L., Vondrá ček, P., Gaillyová, R., Maříková, T., Kalina, Z., Jüttnerová, V., Fajkus, J., Fajkusová, L., Neuromuscul. Disord. 2007, 17, 476-481.
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 476-481
-
-
Zapletalová, E.1
Hedvičáková, P.2
Kozák, L.3
Vondráček, P.4
Gaillyová, R.5
Maříková, T.6
Kalina, Z.7
Jüttnerová, V.8
Fajkus, J.9
Fajkusová, L.10
-
15
-
-
0346502172
-
-
Ogino, S., Wilson, R. B., Rev. Mol. Diagn. 2004, 4, 15-29.
-
(2004)
Rev. Mol. Diagn.
, vol.4
, pp. 15-29
-
-
Ogino, S.1
Wilson, R.B.2
-
16
-
-
0034007548
-
-
Wirth, B., Hum. Mutat. 2000, 15, 228-237.
-
(2000)
Hum. Mutat.
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
17
-
-
0036523944
-
-
Martin, Y., Valero, A., Castillo, E. D., Pascual, S. I., Hernández-Chico, C., Hum. Genet. 2002, 110, 257-263.
-
(2002)
Hum. Genet.
, vol.110
, pp. 257-263
-
-
Martin, Y.1
Valero, A.2
Castillo, E.D.3
Pascual, S.I.4
Hernández-Chico, C.5
-
18
-
-
0043094001
-
-
Cuscó, I., López, E., Soler-Botija, C., Barceló, M. J., Baiget, M., Tizzano, E. F., Hum. Mutat. 2003, 22, 136-143.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 136-143
-
-
Cuscó, I.1
López, E.2
Soler-Botija, C.3
Barceló, M.J.4
Baiget, M.5
Tizzano, E.F.6
-
19
-
-
0031800695
-
-
Lorson, C. L., Strasswimmer, J., Yao, J. M., Baleja, J. D., Hahnen, E., Wirth, B., Le, T., Burghes, A. H. M., Androphy, E. J., Nat. Genet. 1998, 19, 63-66.
-
(1998)
Nat. Genet.
, vol.19
, pp. 63-66
-
-
Lorson, C.L.1
Strasswimmer, J.2
Yao, J.M.3
Baleja, J.D.4
Hahnen, E.5
Wirth, B.6
Le, T.7
Burghes, A.H.M.8
Androphy, E.J.9
-
20
-
-
0033850254
-
-
Gérard, B., Ginet, N.,Matthijs, G., Evrard, P., Baumann, C., Da Silva, F., Gérard-Blanluet, M.,Mayer,M., Grandchamp, B., Elion, J., Hum. Mutat. 2000, 16, 253-263.
-
(2000)
Hum. Mutat.
, vol.16
, pp. 253-263
-
-
Gérard, B.1
Ginet, N.2
Matthijs, G.3
Evrard, P.4
Baumann, C.5
Da Silva, F.6
Gérard-Blanluet, M.7
Mayer, M.8
Grandchamp, B.9
Elion, J.10
-
21
-
-
0038723182
-
-
Anhuf, D., Eggermann, T., Rudnik-Schöneborn, S., Zerres, K., Hum. Mutat. 2003, 22, 74-78.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 74-78
-
-
Anhuf, D.1
Eggermann, T.2
Rudnik-Schöneborn, S.3
Zerres, K.4
-
22
-
-
0037159477
-
-
Sutomo, R., Akutsu, T., Takeshima, Y., Nishio, H., Sadewa, A. H., Harada, Y., Matsuo, M., Am. J. Med. Genet. 2002, 113, 225-226.
-
(2002)
Am. J. Med. Genet.
, vol.113
, pp. 225-226
-
-
Sutomo, R.1
Akutsu, T.2
Takeshima, Y.3
Nishio, H.4
Sadewa, A.H.5
Harada, Y.6
Matsuo, M.7
-
23
-
-
27544510166
-
-
Hung, C. C., Lee, C. N., Chen, C. P., Jong, Y. J., Chen, C. A., Cheng, W. F., Lin, W. L., Su, Y .L., Anal. Chem. 2005, 77, 6960-6968.
-
(2005)
Anal. Chem.
, vol.77
, pp. 6960-6968
-
-
Hung, C.C.1
Lee, C.N.2
Chen, C.P.3
Jong, Y.J.4
Chen, C.A.5
Cheng, W.F.6
Lin, W.L.7
Su, Y.L.8
-
24
-
-
21044456460
-
-
Su, Y. N., Hung, C. C., Li, H., Lee, C. N., Cheng, W. F., Tsao, P. N., Chang, M. C., Yu, C. L., Hsieh, W. S., Lin, W. L., Hsu, S. M., Hum. Mutat. 2005, 25, 460-467.
-
(2005)
Hum. Mutat.
, vol.25
, pp. 460-467
-
-
Su, Y.N.1
Hung, C.C.2
Li, H.3
Lee, C.N.4
Cheng, W.F.5
Tsao, P.N.6
Chang, M.C.7
Yu, C.L.8
Hsieh, W.S.9
Lin, W.L.10
Hsu, S.M.11
-
25
-
-
34548281256
-
-
Hung, C. C., Chien, S. C., Lin, C. Y., Chang, C. H., Chang, Y. F., Jong, Y. J., Hsieh, S. T., Hsieh, W. S., Liu, M. S., Lin, W. L., Lee, C. N., Su, Y. N., Electrophoresis 2007, 28, 2826-2834.
-
(2007)
Electrophoresis
, vol.28
, pp. 2826-2834
-
-
Hung, C.C.1
Chien, S.C.2
Lin, C.Y.3
Chang, C.H.4
Chang, Y.F.5
Jong, Y.J.6
Hsieh, S.T.7
Hsieh, W.S.8
Liu, M.S.9
Lin, W.L.10
Lee, C.N.11
Su, Y.N.12
-
26
-
-
33644505172
-
-
Kao, H. Y., Su, Y. N., Liao, H. K., Liu, M. S., Chen, Y. J., Clin. Chem. 2006, 52, 361-369.
-
(2006)
Clin. Chem.
, vol.52
, pp. 361-369
-
-
Kao, H.Y.1
Su, Y.N.2
Liao, H.K.3
Liu, M.S.4
Chen, Y.J.5
-
27
-
-
21644486352
-
-
Erickson, D., Liu, X., Venditti, R., Li, D., Krull, U. J., Anal. Chem. 2005, 77, 4000-4007.
-
(2005)
Anal. Chem.
, vol.77
, pp. 4000-4007
-
-
Erickson, D.1
Liu, X.2
Venditti, R.3
Li, D.4
Krull, U.J.5
-
28
-
-
0034282498
-
-
Schultz, G. A., Corso, T. N., Prosser, S. J., Zhang, S., Anal. Chem. 2000, 72, 4058-4063.
-
(2000)
Anal. Chem.
, vol.72
, pp. 4058-4063
-
-
Schultz, G.A.1
Corso, T.N.2
Prosser, S.J.3
Zhang, S.4
-
29
-
-
0035253584
-
-
Devaney, J. M., Pettit, E. L., Kaler, S. G., Vallone, P. M., Butler, J. M.,Marino,M.A., Anal. Chem. 2001, 73, 620-624.
-
(2001)
Anal. Chem.
, vol.73
, pp. 620-624
-
-
Devaney, J.M.1
Pettit, E.L.2
Kaler, S.G.3
Vallone, P.M.4
Butler, J.M.5
Marino, M.A.6
-
30
-
-
34247249951
-
-
Huang, C. H., Chang, Y. Y., Chen, C. H., Kuo, Y. S., Hwu, W. L., Gerdes, T., Ko, T. M., Genet.Med. 2007, 9, 241-248.
-
(2007)
Genet.Med.
, vol.9
, pp. 241-248
-
-
Huang, C.H.1
Chang, Y.Y.2
Chen, C.H.3
Kuo, Y.S.4
Hwu, W.L.5
Gerdes, T.6
Ko, T.M.7
-
31
-
-
8144230924
-
-
Clermont, O., Burlet, P., Benit, P., Chanterau, D., Saugier-Veber, P., Munnich, A., Cusin, V., Hum. Mutat. 2004, 24, 417-427.
-
(2004)
Hum. Mutat.
, vol.24
, pp. 417-427
-
-
Clermont, O.1
Burlet, P.2
Benit, P.3
Chanterau, D.4
Saugier-Veber, P.5
Munnich, A.6
Cusin, V.7
-
32
-
-
47549118315
-
-
Wang, C. C., Chang, J. G., Ferrance, J., Chen, H. Y., You, C. Y., Chang, Y. F., Jong, Y. J., Wu, S. M., Yeh, C. H., Electrophoresis 2008, 29, 2904-2911.
-
(2008)
Electrophoresis
, vol.29
, pp. 2904-2911
-
-
Wang, C.C.1
Chang, J.G.2
Ferrance, J.3
Chen, H.Y.4
You, C.Y.5
Chang, Y.F.6
Jong, Y.J.7
Wu, S.M.8
Yeh, C.H.9
-
33
-
-
65949095404
-
-
Wang, C. C., Chang, J. G., Jong, Y. J., Wu, S. M., Electrophoresis 2009, 30, 1102-1110.
-
(2009)
Electrophoresis
, vol.30
, pp. 1102-1110
-
-
Wang, C.C.1
Chang, J.G.2
Jong, Y.J.3
Wu, S.M.4
-
34
-
-
14644396131
-
-
Chou, L. S., Gedge, F., Lyon, E., J. Mol. Diagn. 2005, 7, 111-120.
-
(2005)
J. Mol. Diagn.
, vol.7
, pp. 111-120
-
-
Chou, L.S.1
Gedge, F.2
Lyon, E.3
-
35
-
-
22244480969
-
-
Li-Sucholeiki, X. C., Hu, G., Perls, T., Tomita-Mitchell, A., Thilly, W. G., Electrophoresis 2005, 26, 2531-2538.
-
(2005)
Electrophoresis
, vol.26
, pp. 2531-2538
-
-
Li-Sucholeiki, X.C.1
Hu, G.2
Perls, T.3
Tomita-Mitchell, A.4
Thilly, W.G.5
-
36
-
-
0037262235
-
-
Kan, C. W., Barron, A. E., Electrophoresis 2003, 24, 55-62.
-
(2003)
Electrophoresis
, vol.24
, pp. 55-62
-
-
Kan, C.W.1
Barron, A.E.2
-
37
-
-
0035885785
-
-
Tsai, C . H ., Jong, Y . J ., Hu, C . J ., Chen, C . M ., Shih, M . C ., Chang, C . P ., Chang, J . G., J. Neurol. Sci. 2001, 190, 35-40.
-
(2001)
J. Neurol. Sci.
, vol.190
, pp. 35-40
-
-
Tsai, C.H.1
Jong, Y.J.2
Hu, C.J.3
Chen, C.M.4
Shih, M.C.5
Chang, C.P.6
Chang, J.G.7
|