-
1
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
Nomenclature Working Group
-
(1998)
Hum Mutat
, vol.11
, pp. 1-3
-
-
Antonarakis, S.E.1
-
5
-
-
0029817766
-
Correction of the mutation responsible for sickle cell anemia by an RNA-DNA oligonucleotide
-
(1996)
Science
, vol.273
, pp. 1386-1389
-
-
Cole-Strauss, A.1
Yoon, K.2
Xiang, Y.3
Byrne, B.C.4
Rice, M.C.5
Gryn, J.6
Holloman, W.K.7
Kmiec, E.B.8
-
6
-
-
0242534101
-
Marfan Database (third edition): New mutations and new routines for the software
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 229-223
-
-
Collod-Beroud, G.1
Beroud, C.2
Ades, L.3
Black, C.4
Boxer, M.5
Brock, D.J.6
Holman, K.J.7
De Paepe, A.8
Francke, U.9
Grau, U.10
Hayward, C.11
Klein, H.G.12
Liu, W.13
Nuytinck, L.14
Peltonen, L.15
Alvarez Perez, A.B.16
Rantamaki, T.17
Junien, C.18
Boileau, C.19
-
8
-
-
0033988509
-
Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?
-
(2000)
Am J Med Genet
, vol.90
, pp. 72-79
-
-
Giunta, C.1
Steinmann, B.2
-
13
-
-
17744380449
-
Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools
-
(2000)
Hum Genet
, vol.107
, pp. 488-493
-
-
Hoogendoorn, B.1
Norton, N.2
Kirov, G.3
Williams, N.4
Hamshere, M.L.5
Spurlock, G.6
Austin, J.7
Stephens, M.K.8
Buckland, P.R.9
Owen, M.J.10
O'Donovan, M.C.11
-
14
-
-
0033786787
-
Linkage disequilibrium and the search for complex disease genes
-
(2000)
Genome Res
, vol.10
, pp. 1435-1444
-
-
Jorde, L.B.1
-
17
-
-
0033020685
-
Single nucleotide polymorphism determination using primer extension and time-of-flight mass spectrometry
-
(1999)
Electrophoresis
, vol.20
, pp. 1258-1265
-
-
Li, J.1
Butler, J.M.2
Tan, Y.3
Lin, H.4
Royer, S.5
Ohler, L.6
Shaler, T.A.7
Hunter, J.M.8
Pollart, D.J.9
Monforte, J.A.10
Becker, C.H.11
-
21
-
-
0029052915
-
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
-
(1995)
Am J Hum Genet
, vol.57
, pp. 8-21
-
-
Nijbroek, G.1
Sood, S.2
McIntosh, I.3
Francomano, C.A.4
Bull, E.5
Pereira, L.6
Ramirez, F.7
Pyeritz, R.E.8
Dietz, H.C.9
-
25
-
-
0027313286
-
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome
-
1762
-
(1993)
Hum Mol Genet
, vol.2
, pp. 961-968
-
-
Pereira, L.1
D'Alessio, M.2
Ramirez, F.3
Lynch, J.R.4
Sykes, B.5
Pangilinan, T.6
Bonadio, J.7
-
29
-
-
0028183399
-
The genetic basis of chronic granulomatous disease
-
(1994)
Immunol Rev
, vol.138
, pp. 121-157
-
-
Roos, D.1
-
30
-
-
0030296689
-
X-CGDbase: A database of X-CGD-causing mutations
-
(1996)
Immunol Today
, vol.17
, pp. 517-521
-
-
Roos, D.1
Curnutte, J.T.2
Hossle, J.P.3
Lau, Y.L.4
Ariga, T.5
Nunoi, H.6
Dinauer, M.C.7
Gahr, M.8
Segal, A.W.9
Newburger, P.E.10
Giacca, M.11
Keep, N.H.12
Van Zwieten, R.13
-
32
-
-
0035865322
-
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
-
(2001)
Nature
, vol.409
, pp. 928-933
-
-
Sachidanandam, R.1
Weissman, D.2
Schmidt, S.C.3
Kakol, J.M.4
Stein, L.D.5
Marth, G.6
Sherry, S.7
Mullikin, J.C.8
Mortimore, B.J.9
Willey, D.L.10
Hunt, S.E.11
Cole, C.G.12
Coggill, P.C.13
Rice, C.M.14
Ning, Z.15
Rogers, J.16
Bentley, D.R.17
Kwok, P.Y.18
Mardis, E.R.19
Yeh, R.T.20
Schultz, B.21
Cook, L.22
Davenport, R.23
Dante, M.24
Fulton, L.25
Hillier, L.26
Waterston, R.H.27
McPherson, J.D.28
Gilman, B.29
Schaffner, S.30
Van Etten, W.J.31
Reich, D.32
Higgins, J.33
Daly, M.J.34
Blumenstiel, B.35
Baldwin, J.36
Stange-Thomann, N.37
Zody, M.C.38
Linton, L.39
Lander, E.S.40
Attshuler, D.41
more..
-
41
-
-
0038217407
-
From gels to chips: "Minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms
-
(1999)
Hum Mutat
, vol.13
, pp. 1-10
-
-
Syvänen, A.C.1
-
44
-
-
0035895505
-
The sequence of the human genome
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
Li, P.W.4
Mural, R.J.5
Sutton, G.G.6
Smith, H.O.7
Yandell, M.8
Evans, C.A.9
Holt, R.A.10
Gocayne, J.D.11
Amanatides, P.12
Ballew, R.M.13
Huson, D.H.14
Wortman, J.R.15
Zhang, Q.16
Kodira, C.D.17
Zheng, X.H.18
Chen, L.19
Skupski, M.20
Subramanian, G.21
Thomas, P.D.22
Zhang, J.23
Gabor Miklos, G.L.24
Nelson, C.25
Broder, S.26
Clark, A.G.27
Nadeau, J.28
McKusick, V.A.29
Zinder, N.30
Levine, A.J.31
Roberts, R.J.32
Simon, M.33
Slayman, C.34
Hunkapiller, M.35
Bolanos, R.36
Delcher, A.37
Dew, I.38
Fasulo, D.39
Flanigan, M.40
Florea, L.41
Halpern, A.42
Hannenhalli, S.43
Kravitz, S.44
Levy, S.45
Mobarry, C.46
Reinert, K.47
Remington, K.48
AbuThreideh, J.49
Beasley, E.50
Biddick, K.51
Bonazzi, V.52
Brandon, R.53
Cargill, M.54
Chandramouliswaran, I.55
Charlab, R.56
Chaturvedi, K.57
Deng, Z.58
Di Francesco, V.59
Dunn, P.60
Eilbeck, K.61
Evangelista, C.62
Gabrielian, A.E.63
Gan, W.64
Ge, W.65
Gong, F.66
Gu, Z.67
Guan, P.68
Heiman, T.J.69
Higgins, M.E.70
Ji, R.R.71
Ke, Z.72
Ketchum, K.A.73
Lai, Z.74
Lei, Y.75
Li, Z.76
Li, J.77
Liang, Y.78
Lin, X.79
Lu, F.80
Merkulov, G.V.81
Milshina, N.82
Moore, H.M.83
Naik, A.K.84
Narayan, V.A.85
Neelam, B.86
Nusskern, D.87
Rusch, D.B.88
Salzberg, S.89
Shao, W.90
Shue, B.91
Sun, J.92
Wang, Z.93
Wang, A.94
Wang, X.95
Wang, J.96
Wei, M.97
Wides, R.98
Xiao, C.99
more..
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