-
1
-
-
0031037951
-
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. 1997. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15:236-246.
-
(1997)
Nat Genet
, vol.15
, pp. 236-246
-
-
Allikmets, R.1
Singh, N.2
Sun, H.3
Shroyer, N.F.4
Hutchinson, A.5
Chidambaram, A.6
Gerrard, B.7
Baird, L.8
Stauffer, D.9
Peiffer, A.10
Rattner, A.11
Smallwood, P.12
Li, Y.13
Anderson, K.L.14
Lewis, R.A.15
Nathans, J.16
Leppert, M.17
Dean, M.18
Lupski, J.R.19
-
2
-
-
0033859128
-
Further evidence for an association of ABCR alleles with age-related macular degeneration
-
Allikmets R. 2000a. Further evidence for an association of ABCR alleles with age-related macular degeneration. Am J Hum Genet 67:487-491.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 487-491
-
-
Allikmets, R.1
-
3
-
-
0033794871
-
Simple and complex ABCR: Genetic predisposition to retinal disease
-
Allikmets R. 2000b. Simple and complex ABCR: genetic predisposition to retinal disease. Am J Hum Genet 67:793-799.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 793-799
-
-
Allikmets, R.1
-
4
-
-
0034758045
-
Genomewide scans of complex human diseases: True linkage is hard to find
-
Altmuller J, Palmer LJ, Fischer G, Scherb H, Wjst M. 2001. Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet 69:936-950.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 936-950
-
-
Altmuller, J.1
Palmer, L.J.2
Fischer, G.3
Scherb, H.4
Wjst, M.5
-
5
-
-
0033624575
-
The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
-
Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, Lander ES. 2000. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80.
-
(2000)
Nat Genet
, vol.26
, pp. 76-80
-
-
Altshuler, D.1
Hirschhorn, J.N.2
Klannemark, M.3
Lindgren, C.M.4
Vohl, M.C.5
Nemesh, J.6
Lane, C.R.7
Schaffner, S.F.8
Bolk, S.9
Brewer, C.10
Tuomi, T.11
Gaudet, D.12
Hudson, T.J.13
Daly, M.14
Groop, L.15
Lander, E.S.16
-
6
-
-
0026562867
-
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis
-
Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. 1992. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA 267:1794-1797.
-
(1992)
JAMA
, vol.267
, pp. 1794-1797
-
-
Anguiano, A.1
Oates, R.D.2
Amos, J.A.3
Dean, M.4
Gerrard, B.5
Stewart, C.6
Maher, T.A.7
White, M.B.8
Milunsky, A.9
-
7
-
-
0035525732
-
Discrepancies between genotype and phenotype in hematology: An important frontier
-
Beutler E. 2001. Discrepancies between genotype and phenotype in hematology: an important frontier. Blood 98:2597-2602.
-
(2001)
Blood
, vol.98
, pp. 2597-2602
-
-
Beutler, E.1
-
8
-
-
0025275767
-
Allelic association of human dopamine D2 receptor gene in alcoholism
-
Blum K, Noble EP, Sheridan PJ, Montgomery A, Ritchie T, Jagadeeswaran P, Nogami H, Briggs AH, Cohn JB. 1990. Allelic association of human dopamine D2 receptor gene in alcoholism. JAMA 263:2055-2060.
-
(1990)
JAMA
, vol.263
, pp. 2055-2060
-
-
Blum, K.1
Noble, E.P.2
Sheridan, P.J.3
Montgomery, A.4
Ritchie, T.5
Jagadeeswaran, P.6
Nogami, H.7
Briggs, A.H.8
Cohn, J.B.9
-
9
-
-
0037379691
-
New technologies to assess genotype-phenotype relationships
-
Bochner BR. 2003. New technologies to assess genotype-phenotype relationships. Nat Rev Genet 4:309-314.
-
(2003)
Nat Rev Genet
, vol.4
, pp. 309-314
-
-
Bochner, B.R.1
-
10
-
-
0025663664
-
Population and pedigree studies reveal a lack of association between the dopamine D2 receptor gene and alcoholism
-
Bolos AM, Dean M, Lucas-Derse S, Ramsburg M, Brown GL, Goldman D. 1990. Population and pedigree studies reveal a lack of association between the dopamine D2 receptor gene and alcoholism. JAMA 264:3156-3160.
-
(1990)
JAMA
, vol.264
, pp. 3156-3160
-
-
Bolos, A.M.1
Dean, M.2
Lucas-Derse, S.3
Ramsburg, M.4
Brown, G.L.5
Goldman, D.6
-
11
-
-
0037373275
-
Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
-
Botstein D, Risch N. 2003. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet (Suppl) 33:228-237.
-
(2003)
Nat Genet (Suppl)
, vol.33
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
12
-
-
0033548497
-
HLA and HIV-1: Heterozygote advantage and B*35-Cw*04 disadvantage
-
Carrington M, Nelson GW, Martin MP, Kissner T, Vlahov D, Goedert JJ, Kaslow R, Buchbinder S, Hoots K, O'Brien SJ. 1999. HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage. Science 283:1748-1752.
-
(1999)
Science
, vol.283
, pp. 1748-1752
-
-
Carrington, M.1
Nelson, G.W.2
Martin, M.P.3
Kissner, T.4
Vlahov, D.5
Goedert, J.J.6
Kaslow, R.7
Buchbinder, S.8
Hoots, K.9
O'Brien, S.J.10
-
13
-
-
0033651946
-
Prader-Willi and Angelman syndromes: Sister imprinted disorders
-
Cassidy SB, Dykens E, Williams CA. 2000. Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 97:136-146.
-
(2000)
Am J Med Genet
, vol.97
, pp. 136-146
-
-
Cassidy, S.B.1
Dykens, E.2
Williams, C.A.3
-
14
-
-
0033361760
-
Interaction between the functional polymorphisms of the alcohol-metabolism genes in protection against alcoholism
-
Chen CC, Lu RB, Chen YC, Wang MF, Chang YC, Li TK, Yin SJ. 1999. Interaction between the functional polymorphisms of the alcohol-metabolism genes in protection against alcoholism. Am J Hum Genet 65:795-807.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 795-807
-
-
Chen, C.C.1
Lu, R.B.2
Chen, Y.C.3
Wang, M.F.4
Chang, Y.C.5
Li, T.K.6
Yin, S.J.7
-
15
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Ferec C, Estivill X. 1995. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 332:1475-1480.
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
Bassas, L.4
Lissens, W.5
Silber, S.6
Romey, M.C.7
Ruiz-Romero, J.8
Verlingue, C.9
Claustres, M.10
Nunes, V.11
Ferec, C.12
Estivill, X.13
-
16
-
-
0037108758
-
Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia
-
Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Palicio M, Abderrahim H, Bougueleret L, Barry C, Tanaka H, La Rosa P, Puech A, Tahri N, Cohen-Akenine A, Delabrosse S, Lissarrague S, Picard FP, Maurice K, Essioux L, Millasseau P, Grel P, Debailleul V, Simon AM, Caterina D, Dufaure I, Malekzadeh K, Belova M, Luan JJ, Bouillot M, Sambucy JL, Primas G, Saumier M, Boubkiri N, Martin-Saumier S, Nasroune M, Peixoto H, Delaye A, Pinchot V, Bastucci M, Guillou S, Chevillon M, Sainz-Fuertes R, Meguenni S, Aurich-Costa J, Cherif D, Gimalac A, Van Duijn C, Gauvreau D, Ouellette G, Fortier I, Raelson J, Sherbatich T, Riazanskaia N, Rogaev E, Raeymaekers P, Aerssens J, Konings F, Luyten W, Macciardi F, Sham PC, Straub RE, Weinberger DR, Cohen N, Cohen D, Ouelette G, Realson J. 2002. Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci USA 99:13675-13680.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 13675-13680
-
-
Chumakov, I.1
Blumenfeld, M.2
Guerassimenko, O.3
Cavarec, L.4
Palicio, M.5
Abderrahim, H.6
Bougueleret, L.7
Barry, C.8
Tanaka, H.9
La Rosa, P.10
Puech, A.11
Tahri, N.12
Cohen-Akenine, A.13
Delabrosse, S.14
Lissarrague, S.15
Picard, F.P.16
Maurice, K.17
Essioux, L.18
Millasseau, P.19
Grel, P.20
Debailleul, V.21
Simon, A.M.22
Caterina, D.23
Dufaure, I.24
Malekzadeh, K.25
Belova, M.26
Luan, J.J.27
Bouillot, M.28
Sambucy, J.L.29
Primas, G.30
Saumier, M.31
Boubkiri, N.32
Martin-Saumier, S.33
Nasroune, M.34
Peixoto, H.35
Delaye, A.36
Pinchot, V.37
Bastucci, M.38
Guillou, S.39
Chevillon, M.40
Sainz-Fuertes, R.41
Meguenni, S.42
Aurich-Costa, J.43
Cherif, D.44
Gimalac, A.45
Van Duijn, C.46
Gauvreau, D.47
Ouellette, G.48
Fortier, I.49
Raelson, J.50
Sherbatich, T.51
Riazanskaia, N.52
Rogaev, E.53
Raeymaekers, P.54
Aerssens, J.55
Konings, F.56
Luyten, W.57
Macciardi, F.58
Sham, P.C.59
Straub, R.E.60
Weinberger, D.R.61
Cohen, N.62
Cohen, D.63
Ouelette, G.64
Realson, J.65
more..
-
17
-
-
0034752187
-
The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease
-
Clee SM, Loubser O, Collins J, Kastelein JJ, Hayden MR. 2001. The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease. Clin Genet 60:293-300.
-
(2001)
Clin Genet
, vol.60
, pp. 293-300
-
-
Clee, S.M.1
Loubser, O.2
Collins, J.3
Kastelein, J.J.4
Hayden, M.R.5
-
18
-
-
0034153089
-
Infectious causation of disease: An evolutionary perspective
-
Cochran GM, Ewald PW, Cochran KD. 2000. Infectious causation of disease: an evolutionary perspective. Perspect Biol Med 43:406-448.
-
(2000)
Perspect Biol Med
, vol.43
, pp. 406-448
-
-
Cochran, G.M.1
Ewald, P.W.2
Cochran, K.D.3
-
19
-
-
0036177839
-
Ethnic-difference markers for use in mapping by admixture linkage disequilibrium
-
Collins-Schramm HE, Phillips CM, Operario DJ, Lee JS, Weber JL, Hanson RL, Knowler WC, Cooper R, Li H, Seldin MF. 2002. Ethnic-Difference Markers for Use in Mapping by Admixture Linkage Disequilibrium. Am J Hum Genet 70:737-750.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 737-750
-
-
Collins-Schramm, H.E.1
Phillips, C.M.2
Operario, D.J.3
Lee, J.S.4
Weber, J.L.5
Hanson, R.L.6
Knowler, W.C.7
Cooper, R.8
Li, H.9
Seldin, M.F.10
-
20
-
-
0038278603
-
An exhaustive DNA micro-satellite map of the human genome using high performance computing
-
in press
-
Collins JR, Stephen B, Gold B, Long B, Dean M, Burt SK. 2003. An exhaustive DNA micro-satellite map of the human genome using high performance computing. Genomics in press.
-
(2003)
Genomics
-
-
Collins, J.R.1
Stephen, B.2
Gold, B.3
Long, B.4
Dean, M.5
Burt, S.K.6
-
21
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
Cremers FP, van de Pol DJ, van Driel M, den hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB. 1998. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet 7:355-362.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 355-362
-
-
Cremers, F.P.1
Van de Pol, D.J.2
Van Driel, M.3
Den Hollander, A.I.4
Van Haren, F.J.5
Knoers, N.V.6
Tijmes, N.7
Bergen, A.A.8
Rohrschneider, K.9
Blankenagel, A.10
Pinckers, A.J.11
Deutman, A.F.12
Hoyng, C.B.13
-
22
-
-
0025312731
-
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
-
Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw KT, Leppert M. 1990. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61:863-870.
-
(1990)
Cell
, vol.61
, pp. 863-870
-
-
Dean, M.1
White, M.B.2
Amos, J.3
Gerrard, B.4
Stewart, C.5
Khaw, K.T.6
Leppert, M.7
-
23
-
-
0028220333
-
Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations
-
Dean M, Santis G. 1994. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum Genet 93:364-368.
-
(1994)
Hum Genet
, vol.93
, pp. 364-368
-
-
Dean, M.1
Santis, G.2
-
24
-
-
0001633495
-
Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene
-
Dean M, Carrington M, Winkler C, Huttley GA, Smith MW, Allikmets R, Goedert JJ, Buchbinder SP, Vittinghoff E, Gomperts E, Donfield S, Vlahov D, Kaslow R, Saah A, Rinaldo C, Detels R, O'Brien SJ. 1996. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Science 273:1856-1862.
-
(1996)
Science
, vol.273
, pp. 1856-1862
-
-
Dean, M.1
Carrington, M.2
Winkler, C.3
Huttley, G.A.4
Smith, M.W.5
Allikmets, R.6
Goedert, J.J.7
Buchbinder, S.P.8
Vittinghoff, E.9
Gomperts, E.10
Donfield, S.11
Vlahov, D.12
Kaslow, R.13
Saah, A.14
Rinaldo, C.15
Detels, R.16
O'Brien, S.J.17
-
25
-
-
0036403768
-
Balanced polymorphism selected by genetic versus infectious human disease
-
Dean M, Carrington M, O'Brien SJ. 2002. Balanced polymorphism selected by genetic versus infectious human disease. Annu Rev Genomics Hum Genet 3:263-292.
-
(2002)
Annu Rev Genomics Hum Genet
, vol.3
, pp. 263-292
-
-
Dean, M.1
Carrington, M.2
O'Brien, S.J.3
-
26
-
-
0031014716
-
CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus
-
Donner H, Rau H, Walfish PG, Braun J, Siegmund T, Finke R, Herwig J, Usadel KH, Badenhoop K. 1997. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. J Clin Endocrinol Metab 82:143-146.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 143-146
-
-
Donner, H.1
Rau, H.2
Walfish, P.G.3
Braun, J.4
Siegmund, T.5
Finke, R.6
Herwig, J.7
Usadel, K.H.8
Badenhoop, K.9
-
27
-
-
0035810850
-
Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia
-
Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, Straub RE, Goldman D, Weinberger DR. 2001. Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci USA 98:6917-6922.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 6917-6922
-
-
Egan, M.F.1
Goldberg, T.E.2
Kolachana, B.S.3
Callicott, J.H.4
Mazzanti, C.M.5
Straub, R.E.6
Goldman, D.7
Weinberger, D.R.8
-
28
-
-
0036145156
-
Cancer as an epigenetic disease: DNA methylation and chromatin alterations in human tumours
-
Esteller M, Herman JG. 2002. Cancer as an epigenetic disease: DNA methylation and chromatin alterations in human tumours. J Pathol 196:1-7.
-
(2002)
J Pathol
, vol.196
, pp. 1-7
-
-
Esteller, M.1
Herman, J.G.2
-
29
-
-
0029847373
-
Complex interactions of new quantitative trait loci, Sluc1, Sluc2, Sluc3, and Sluc4, that influence the susceptibility to lung cancer in the mouse
-
Fijneman RJ, de Vries SS, Jansen RC, Demant P. 1996. Complex interactions of new quantitative trait loci, Sluc1, Sluc2, Sluc3, and Sluc4, that influence the susceptibility to lung cancer in the mouse. Nat Genet 14:465-467.
-
(1996)
Nat Genet
, vol.14
, pp. 465-467
-
-
Fijneman, R.J.1
De Vries, S.S.2
Jansen, R.C.3
Demant, P.4
-
30
-
-
0037590604
-
Overview of the alliance for cellular signaling
-
Gilman AG, Simon MI, Bourne HR, Harris BA, Long P, Ross EM, Stull JT, Taussig R, Arkin AP, Cobb MH, Cyster JG, Devreotes PN, Ferrell JE, Fruman D, Gold M, Weiss A, Berridge MJ, Cantley LC, Catterall WA, Coughlin SR, Olson EN, Smith TF, Brugge JS, Botstein D, Dixon JE, Hunter T, Lefkowitz RJ, Pawson AJ, Sternberg PW, Varmus H, Subramaniam S, Sinkovits RS, Li J, Mock D, Ning Y, Saunders B, Sternweis PC, Hilgemann D, Scheuermann RH, DeCamp D, Hsueh R, Lin KM, Ni Y, Seaman WE, Simpson PC, O'Connell TD, Roach T, Choi S, Eversole-Cire P, Fraser I, Mumby MC, Zhao Y, Brekken D, Shu H, Meyer T, Chandy G, Heo WD, Liou J, O'Rourke N, Verghese M, Mumby SM, Han H, Brown HA, Forrester JS, Ivanova P, Milne SB, Casey PJ, Harden TK, Doyle J, Gray ML, Michnick S, Schmidt MA, Toner M, Tsien RY, Natarajan M, Ranganathan R, Sambrano GR. 2002. Overview of the Alliance for Cellular Signaling. Nature 420:703-706.
-
(2002)
Nature
, vol.420
, pp. 703-706
-
-
Gilman, A.G.1
Simon, M.I.2
Bourne, H.R.3
Harris, B.A.4
Long, P.5
Ross, E.M.6
Stull, J.T.7
Taussig, R.8
Arkin, A.P.9
Cobb, M.H.10
Cyster, J.G.11
Devreotes, P.N.12
Ferrell, J.E.13
Fruman, D.14
Gold, M.15
Weiss, A.16
Berridge, M.J.17
Cantley, L.C.18
Catterall, W.A.19
Coughlin, S.R.20
Olson, E.N.21
Smith, T.F.22
Brugge, J.S.23
Botstein, D.24
Dixon, J.E.25
Hunter, T.26
Lefkowitz, R.J.27
Pawson, A.J.28
Sternberg, P.W.29
Varmus, H.30
Subramaniam, S.31
Sinkovits, R.S.32
Li, J.33
Mock, D.34
Ning, Y.35
Saunders, B.36
Sternweis, P.C.37
Hilgemann, D.38
Scheuermann, R.H.39
DeCamp, D.40
Hsueh, R.41
Lin, K.M.42
Ni, Y.43
Seaman, W.E.44
Simpson, P.C.45
O'Connell, T.D.46
Roach, T.47
Choi, S.48
Eversole-Cire, P.49
Fraser, I.50
Mumby, M.C.51
Zhao, Y.52
Brekken, D.53
Shu, H.54
Meyer, T.55
Chandy, G.56
Heo, W.D.57
Liou, J.58
O'Rourke, N.59
Verghese, M.60
Mumby, S.M.61
Han, H.62
Brown, H.A.63
Forrester, J.S.64
Ivanova, P.65
Milne, S.B.66
Casey, P.J.67
Harden, T.K.68
Doyle, J.69
Gray, M.L.70
Michnick, S.71
Schmidt, M.A.72
Toner, M.73
Tsien, R.Y.74
Natarajan, M.75
Ranganathan, R.76
Sambrano, G.R.77
more..
-
31
-
-
0032912345
-
The use of microsatellite variation to infer population structure and demographic history in a natural model system
-
Goldstein DB, Roemer GW, Smith DA, Reich DE, Bergman A, Wayne RK. 1999. The use of microsatellite variation to infer population structure and demographic history in a natural model system. Genetics 151:797-801.
-
(1999)
Genetics
, vol.151
, pp. 797-801
-
-
Goldstein, D.B.1
Roemer, G.W.2
Smith, D.A.3
Reich, D.E.4
Bergman, A.5
Wayne, R.K.6
-
32
-
-
6844252925
-
Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission
-
Gouw LG, Castaneda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Ptacek LJ. 1998. Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet 7:525-532.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 525-532
-
-
Gouw, L.G.1
Castaneda, M.A.2
McKenna, C.K.3
Digre, K.B.4
Pulst, S.M.5
Perlman, S.6
Lee, M.S.7
Gomez, C.8
Fischbeck, K.9
Gagnon, D.10
Storey, E.11
Bird, T.12
Jeri, F.R.13
Ptacek, L.J.14
-
33
-
-
17944367325
-
A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders
-
Gratacos M, Nadal M, Martin-Santos R, Pujana MA, Gago J, Peral B, Armengol L, Ponsa I, Miro R, Bulbena A, Estivill X. 2001. A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell 106:367-379.
-
(2001)
Cell
, vol.106
, pp. 367-379
-
-
Gratacos, M.1
Nadal, M.2
Martin-Santos, R.3
Pujana, M.A.4
Gago, J.5
Peral, B.6
Armengol, L.7
Ponsa, I.8
Miro, R.9
Bulbena, A.10
Estivill, X.11
-
34
-
-
0036733757
-
Demonstration of Epstein-Barr virus in carcinomas of various sites
-
Grinstein S, Preciado MV, Gattuso P, Chabay PA, Warren WH, De Matteo E, Gould VE. 2002. Demonstration of Epstein-Barr virus in carcinomas of various sites. Cancer Res 62:4876-4878.
-
(2002)
Cancer Res
, vol.62
, pp. 4876-4878
-
-
Grinstein, S.1
Preciado, M.V.2
Gattuso, P.3
Chabay, P.A.4
Warren, W.H.5
De Matteo, E.6
Gould, V.E.7
-
35
-
-
0031055223
-
Genomic imprinting: Nature and clinical relevance
-
Hall JG. 1997. Genomic imprinting: nature and clinical relevance. Annu Rev Med 48:35-44.
-
(1997)
Annu Rev Med
, vol.48
, pp. 35-44
-
-
Hall, J.G.1
-
38
-
-
0028978478
-
Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice
-
Helwig U, Imai K, Schmahl W, Thomas BE, Varnum DS, Nadeau JH, Balling R. 1995. Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. Nat Genet 11:60-63.
-
(1995)
Nat Genet
, vol.11
, pp. 60-63
-
-
Helwig, U.1
Imai, K.2
Schmahl, W.3
Thomas, B.E.4
Varnum, D.S.5
Nadeau, J.H.6
Balling, R.7
-
39
-
-
0037314313
-
Epstein-Barr virus-associated carcinomas: Facts and fiction
-
Herrmann K, Niedobitek G. 2003. Epstein-Barr virus-associated carcinomas: facts and fiction. J Pathol 199:140-145.
-
(2003)
J Pathol
, vol.199
, pp. 140-145
-
-
Herrmann, K.1
Niedobitek, G.2
-
41
-
-
0037380994
-
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method
-
Hogervorst FB, Nederlof PM, Gille JJ, McElgunn CJ, Grippeling M, Pruntel R, Regnerus R, van Welsem T, van Spaendonk R, Menko FH, Kluijt I, Dommering C, Verhoef S, Schouten JP, van't Veer LJ, Pals G. 2003. Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63:1449-1453.
-
(2003)
Cancer Res
, vol.63
, pp. 1449-1453
-
-
Hogervorst, F.B.1
Nederlof, P.M.2
Gille, J.J.3
McElgunn, C.J.4
Grippeling, M.5
Pruntel, R.6
Regnerus, R.7
Van Welsem, T.8
Van Spaendonk, R.9
Menko, F.H.10
Kluijt, I.11
Dommering, C.12
Verhoef, S.13
Schouten, J.P.14
Van't Veer, L.J.15
Pals, G.16
-
42
-
-
0033772073
-
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
-
Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI. 2000. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 26:163-175.
-
(2000)
Nat Genet
, vol.26
, pp. 163-175
-
-
Horikawa, Y.1
Oda, N.2
Cox, N.J.3
Li, X.4
Orho-Melander, M.5
Hara, M.6
Hinokio, Y.7
Lindner, T.H.8
Mashima, H.9
Schwarz, P.E.10
Del Bosque-Plata, L.11
Oda, Y.12
Yoshiuchi, I.13
Colilla, S.14
Polonsky, K.S.15
Wei, S.16
Concannon, P.17
Iwasaki, N.18
Schulze, J.19
Baier, L.J.20
Bogardus, C.21
Groop, L.22
Boerwinkle, E.23
Hanis, C.L.24
Bell, G.I.25
more..
-
43
-
-
0033523018
-
Naturally occurring CCR5 extracellular and transmembrane domain variants affect HIV-1 co-receptor and ligand binding function
-
Howard OM, Shirakawa AK, Turpin JA, Maynard A, Tobin GJ, Carrington M, Oppenheim JJ, Dean M. 1999. Naturally occurring CCR5 extracellular and transmembrane domain variants affect HIV-1 co-receptor and ligand binding function. J Biol Chem 274:16228-16234.
-
(1999)
J Biol Chem
, vol.274
, pp. 16228-16234
-
-
Howard, O.M.1
Shirakawa, A.K.2
Turpin, J.A.3
Maynard, A.4
Tobin, G.J.5
Carrington, M.6
Oppenheim, J.J.7
Dean, M.8
-
45
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K, Berson EL, Dryja TP. 1994. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604-1608.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
46
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
-
Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. 2001. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293:2256-2259.
-
(2001)
Science
, vol.293
, pp. 2256-2259
-
-
Katsanis, N.1
Ansley, S.J.2
Badano, J.L.3
Eichers, E.R.4
Lewis, R.A.5
Hoskins, B.E.6
Scambler, P.J.7
Davidson, W.S.8
Beales, P.L.9
Lupski, J.R.10
-
47
-
-
0033039497
-
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
-
Kruglyak L. 1999. Prospects for whole-genome linkage disequilibrium mapping of common disease genes, Nat Genet 22:139-144.
-
(1999)
Nat Genet
, vol.22
, pp. 139-144
-
-
Kruglyak, L.1
-
48
-
-
0027520025
-
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
-
Lakich D, Kazazian HH Jr., Antonarakis SE, Gitschier J. 1993. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 5:236-241.
-
(1993)
Nat Genet
, vol.5
, pp. 236-241
-
-
Lakich, D.1
Kazazian H.H., Jr.2
Antonarakis, S.E.3
Gitschier, J.4
-
49
-
-
0028877463
-
Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
-
Lander E, Kruglyak L. 1995. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247.
-
(1995)
Nat Genet
, vol.11
, pp. 241-247
-
-
Lander, E.1
Kruglyak, L.2
-
50
-
-
0033912677
-
Significant admixture linkage disequilibrium across 30 cM around the FY locus in African Americans
-
Lautenberger JA, Stephens JC, O'Brien SJ, Smith MW. 2000. Significant admixture linkage disequilibrium across 30 cM around the FY locus in African Americans. Am J Hum Genet 66:969-978.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 969-978
-
-
Lautenberger, J.A.1
Stephens, J.C.2
O'Brien, S.J.3
Smith, M.W.4
-
51
-
-
0033071210
-
Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
-
Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M. 1999. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet 64:422-434.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 422-434
-
-
Lewis, R.A.1
Shroyer, N.F.2
Singh, N.3
Allikmets, R.4
Hutchinson, A.5
Li, Y.6
Lupski, J.R.7
Leppert, M.8
Dean, M.9
-
52
-
-
0037369522
-
Chlamydia pneumoniae infection promotes the transmigration of monocytes through human brain endothelial cells
-
MacIntyre A, Abramov R, Hammond CJ, Hudson AP, Arking EJ, Little CS, Appek DM, Balin BJ. 2003. Chlamydia pneumoniae infection promotes the transmigration of monocytes through human brain endothelial cells. J Neurosci Res 71:740-750.
-
(2003)
J Neurosci Res
, vol.71
, pp. 740-750
-
-
MacIntyre, A.1
Abramov, R.2
Hammond, C.J.3
Hudson, A.P.4
Arking, E.J.5
Little, C.S.6
Appek, D.M.7
Balin, B.J.8
-
53
-
-
0034003082
-
Analysis of association at single nucleotide polymorphisms in the APOE region
-
Martin ER, Gilbert JR, Lai EH, Riley J, Rogala AR, Slotterbeck BD, Sipe CA, Grubber JM, Warren LL, Conneally PM, Saunders AM, Schmechel DE, Purvis I, Pericak-Vance MA, Roses AD, Vance JM. 2000. Analysis of association at single nucleotide polymorphisms in the APOE region. Genomics 63:7-12.
-
(2000)
Genomics
, vol.63
, pp. 7-12
-
-
Martin, E.R.1
Gilbert, J.R.2
Lai, E.H.3
Riley, J.4
Rogala, A.R.5
Slotterbeck, B.D.6
Sipe, C.A.7
Grubber, J.M.8
Warren, L.L.9
Conneally, P.M.10
Saunders, A.M.11
Schmechel, D.E.12
Purvis, I.13
Pericak-Vance, M.A.14
Roses, A.D.15
Vance, J.M.16
-
54
-
-
0032484088
-
Genetic acceleration of AIDS progression by a promoter variant of CCR5
-
Martin MP, Dean M, Smith MW, Winkler C, Gerrard B, Michael NL, Lee B, Doms RW, Margolick J, Buchbinder S, Goedert JJ, O'Brien TR, Hilgartner MW, Vlahov D, O'Brien SJ, Carrington M. 1998. Genetic acceleration of AIDS progression by a promoter variant of CCR5. Science 282:1907-1911.
-
(1998)
Science
, vol.282
, pp. 1907-1911
-
-
Martin, M.P.1
Dean, M.2
Smith, M.W.3
Winkler, C.4
Gerrard, B.5
Michael, N.L.6
Lee, B.7
Doms, R.W.8
Margolick, J.9
Buchbinder, S.10
Goedert, J.J.11
O'Brien, T.R.12
Hilgartner, M.W.13
Vlahov, D.14
O'Brien, S.J.15
Carrington, M.16
-
55
-
-
0031606609
-
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
-
Martinez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzalez-Duarte R, Balcells S. 1998. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet 18:11-12.
-
(1998)
Nat Genet
, vol.18
, pp. 11-12
-
-
Martinez-Mir, A.1
Paloma, E.2
Allikmets, R.3
Ayuso, C.4
Del Rio, T.5
Dean, M.6
Vilageliu, L.7
Gonzalez-Duarte, R.8
Balcells, S.9
-
56
-
-
0030878110
-
Congenital leptin deficiency is associated with severe early-onset obesity in humans
-
Montague CT, Farooqi IS, Whitehead JP, Soos MA, Rau H, Wareham NJ, Sewter CP, Digby JE, Mohammed SN, Hurst JA, Cheetham CH, Earley AR, Barnett AH, Prins JB, O'Rahilly S. 1997. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 387:903-908.
-
(1997)
Nature
, vol.387
, pp. 903-908
-
-
Montague, C.T.1
Farooqi, I.S.2
Whitehead, J.P.3
Soos, M.A.4
Rau, H.5
Wareham, N.J.6
Sewter, C.P.7
Digby, J.E.8
Mohammed, S.N.9
Hurst, J.A.10
Cheetham, C.H.11
Earley, A.R.12
Barnett, A.H.13
Prins, J.B.14
O'Rahilly, S.15
-
57
-
-
0030979154
-
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
-
Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr. 1997. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet 6:659-664.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 659-664
-
-
Morell, R.1
Spritz, R.A.2
Ho, L.3
Pierpont, J.4
Guo, W.5
Friedman, T.B.6
Asher J.H., Jr.7
-
58
-
-
0029048950
-
Alcohol and aldehyde dehydrogenase genotypes and drinking behavior of Chinese living in Shanghai
-
Muramatsu T, Wang ZC, Fang YR, Hu KB, Yan H, Yamada K, Higuchi S, Harada S, Kono H. 1995. Alcohol and aldehyde dehydrogenase genotypes and drinking behavior of Chinese living in Shanghai. Hum Genet 96:151-154.
-
(1995)
Hum Genet
, vol.96
, pp. 151-154
-
-
Muramatsu, T.1
Wang, Z.C.2
Fang, Y.R.3
Hu, K.B.4
Yan, H.5
Yamada, K.6
Higuchi, S.7
Harada, S.8
Kono, H.9
-
59
-
-
0035866354
-
Epistatic interactions between skin tumor modifier loci in interspecific (spretus/musculus) backcross mice
-
Nagase H, Mao JH, de Koning JP, Minami T, Balmain A. 2001. Epistatic interactions between skin tumor modifier loci in interspecific (spretus/musculus) backcross mice. Cancer Res 61:1305-1308.
-
(2001)
Cancer Res
, vol.61
, pp. 1305-1308
-
-
Nagase, H.1
Mao, J.H.2
De Koning, J.P.3
Minami, T.4
Balmain, A.5
-
60
-
-
0035021901
-
Nonrandom segregation during meiosis: The unfairness of females
-
Pardo-Manuel de Villena F, Sapienza C. 2001. Nonrandom segregation during meiosis: the unfairness of females. Mamm Genome 12:331-339.
-
(2001)
Mamm Genome
, vol.12
, pp. 331-339
-
-
Pardo-Manuel de Villena, F.1
Sapienza, C.2
-
61
-
-
0030667686
-
Factor V Leiden mutation and the risks for thromboembolic disease: A clinical perspective
-
Price DT, Ridker PM. 1997. Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med 127:895-903.
-
(1997)
Ann Intern Med
, vol.127
, pp. 895-903
-
-
Price, D.T.1
Ridker, P.M.2
-
62
-
-
0033358548
-
Use of unlinked genetic markers to detect population stratification in association studies
-
Pritchard JK, Rosenberg NA. 1999. Use of unlinked genetic markers to detect population stratification in association studies. Am J Hum Genet 65:220-228.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 220-228
-
-
Pritchard, J.K.1
Rosenberg, N.A.2
-
63
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard JK. 2001. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69:124-137.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
64
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich DE, Lander ES. 2001. On the allelic spectrum of human disease. Trends Genet 17:502-510.
-
(2001)
Trends Genet
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
65
-
-
0035837267
-
Linkage disequilibrium in the human genome
-
Reich DE, Cargill M, Bolk S, Ireland J, Sabeti PC, Richter DJ, Lavery T, Kouyoumjian R, Farhadian SF, Ward R, Lander ES. 2001. Linkage disequilibrium in the human genome. Nature 411:199-204.
-
(2001)
Nature
, vol.411
, pp. 199-204
-
-
Reich, D.E.1
Cargill, M.2
Bolk, S.3
Ireland, J.4
Sabeti, P.C.5
Richter, D.J.6
Lavery, T.7
Kouyoumjian, R.8
Farhadian, S.F.9
Ward, R.10
Lander, E.S.11
-
66
-
-
0033915286
-
Failure to detect Chlamydia pneumoniae in the late-onset Alzheimer's brain
-
Ring RH, Lyons JM. 2000. Failure to detect Chlamydia pneumoniae in the late-onset Alzheimer's brain. J Clin Microbiol 38:2591-2594.
-
(2000)
J Clin Microbiol
, vol.38
, pp. 2591-2594
-
-
Ring, R.H.1
Lyons, J.M.2
-
67
-
-
0037095736
-
Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns
-
Rivolta C, Sharon D, DeAngelis MM, Dryja TP. 2002. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 11:1219-1227.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1219-1227
-
-
Rivolta, C.1
Sharon, D.2
DeAngelis, M.M.3
Dryja, T.P.4
-
68
-
-
0032998027
-
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: Evidence of clinical heterogeneity at this locus
-
Rozet JM, Gerber S, Ghazi I, Perrault I, Ducroq D, Souied E, Cabot A, Dufier JL, Munnich A, Kaplan J. 1999. Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. J Med Genet 36:447-451.
-
(1999)
J Med Genet
, vol.36
, pp. 447-451
-
-
Rozet, J.M.1
Gerber, S.2
Ghazi, I.3
Perrault, I.4
Ducroq, D.5
Souied, E.6
Cabot, A.7
Dufier, J.L.8
Munnich, A.9
Kaplan, J.10
-
69
-
-
18744406980
-
The distribution of long range admixture linkage disequilibrium in an African-American population
-
Rybicki BA, Iyengar SK, Harris T, Liptak R, Elston RC, Sheffer R, Chen KM, Major M, Maliarik MJ, Iannuzzi MC. 2002. The distribution of long range admixture linkage disequilibrium in an African-American population. Hum Hered 53:187-196.
-
(2002)
Hum Hered
, vol.53
, pp. 187-196
-
-
Rybicki, B.A.1
Iyengar, S.K.2
Harris, T.3
Liptak, R.4
Elston, R.C.5
Sheffer, R.6
Chen, K.M.7
Major, M.8
Maliarik, M.J.9
Iannuzzi, M.C.10
-
70
-
-
0037167852
-
Detecting recent positive selection in the human genome from haplotype structure
-
Sabeti PC, Reich DE, Higgins JM, Levine HZ, Richter DJ, Schaffner SF, Gabriel SB, Platko JV, Patterson NJ, McDonald GJ, Ackerman HC, Campbell SJ, Altshuler D, Cooper R, Kwiatkowski D, Ward R, Lander ES. 2002. Detecting recent positive selection in the human genome from haplotype structure. Nature 419:832-837.
-
(2002)
Nature
, vol.419
, pp. 832-837
-
-
Sabeti, P.C.1
Reich, D.E.2
Higgins, J.M.3
Levine, H.Z.4
Richter, D.J.5
Schaffner, S.F.6
Gabriel, S.B.7
Platko, J.V.8
Patterson, N.J.9
McDonald, G.J.10
Ackerman, H.C.11
Campbell, S.J.12
Altshuler, D.13
Cooper, R.14
Kwiatkowski, D.15
Ward, R.16
Lander, E.S.17
-
71
-
-
14344269583
-
Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10
-
Shin HD, Winkler C, Stephens JC, Bream J, Young H, Goedert JJ, O'Brien TR, Vlahov D, Buchbinder S, Giorgi J, Rinaldo C, Donfield S, Willoughby A, O'Brien SJ, Smith MW. 2000. Genetic restriction of HIV-1 pathogenesis to AIDS by promoter alleles of IL10. Proc Natl Acad Sci USA 97:14467-14472.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 14467-14472
-
-
Shin, H.D.1
Winkler, C.2
Stephens, J.C.3
Bream, J.4
Young, H.5
Goedert, J.J.6
O'Brien, T.R.7
Vlahov, D.8
Buchbinder, S.9
Giorgi, J.10
Rinaldo, C.11
Donfield, S.12
Willoughby, A.13
O'Brien, S.J.14
Smith, M.W.15
-
72
-
-
0032893407
-
X-linked adrenoleukodystrophy: Genes, mutations, and phenotypes
-
Smith KD, Kemp S, Braiterman LT, Lu JF, Wei HM, Geraghty M, Stetten G, Bergin JS, Pevsner J, Watkins PA. 1999. X-linked adrenoleukodystrophy: genes, mutations, and phenotypes. Neurochem Res 24:521-535.
-
(1999)
Neurochem Res
, vol.24
, pp. 521-535
-
-
Smith, K.D.1
Kemp, S.2
Braiterman, L.T.3
Lu, J.F.4
Wei, H.M.5
Geraghty, M.6
Stetten, G.7
Bergin, J.S.8
Pevsner, J.9
Watkins, P.A.10
-
73
-
-
0030861904
-
Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression
-
Smith MW, Dean M, Carrington M, Winkler C, Huttley GA, Lomb DA, Goedert JJ, O'Brien TR, Jacobson LP, Kaslow R, Buchbinder S, Vittinghoff E, Vlahov D, Hoots K, Hilgartner MW, O'Brien SJ. 1997. Contrasting genetic influence of CCR2 and CCR5 variants on HIV-1 infection and disease progression. Science 277:959-965.
-
(1997)
Science
, vol.277
, pp. 959-965
-
-
Smith, M.W.1
Dean, M.2
Carrington, M.3
Winkler, C.4
Huttley, G.A.5
Lomb, D.A.6
Goedert, J.J.7
O'Brien, T.R.8
Jacobson, L.P.9
Kaslow, R.10
Buchbinder, S.11
Vittinghoff, E.12
Vlahov, D.13
Hoots, K.14
Hilgartner, M.W.15
O'Brien, S.J.16
-
74
-
-
0034752862
-
Markers for mapping by admixture linkage disequilibrium in African American and Hispanic populations
-
Smith MW, Lautenberger JA, Shin HD, Chretien JP, Shrestha S, Gilbert DA, O'Brien SJ. 2001. Markers for mapping by admixture linkage disequilibrium in African American and Hispanic populations. Am J Hum Genet 69:1080-1094.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1080-1094
-
-
Smith, M.W.1
Lautenberger, J.A.2
Shin, H.D.3
Chretien, J.P.4
Shrestha, S.5
Gilbert, D.A.6
O'Brien, S.J.7
-
75
-
-
0027377799
-
Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
-
Spielman RS, McGinnis RE, Ewens WJ. 1993. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 506-516
-
-
Spielman, R.S.1
McGinnis, R.E.2
Ewens, W.J.3
-
76
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz P, Lupski JR. 2002. Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82.
-
(2002)
Trends Genet
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
77
-
-
0028001245
-
Mapping by admixture linkage disequilibrium in human populations: Limits and guidelines
-
Stephens JC, Briscoe D, O'Brien SJ. 1994. Mapping by admixture linkage disequilibrium in human populations: limits and guidelines. Am J Hum Genet 55:809-824.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 809-824
-
-
Stephens, J.C.1
Briscoe, D.2
O'Brien, S.J.3
-
78
-
-
0037015254
-
Effect of treatment for Chlamydia pneumoniae and Helicobacter pylori on markers of inflammation and cardiac events in patients with acute coronary syndromes: South Thames Trial of Antibiotics in Myocardial Infarction and Unstable Angina (STAMINA)
-
Stone AF, Mendall MA, Kaski JC, Edger TM, Risley P, Poloniecki J, Camm AJ, Northfield TC. 2002. Effect of treatment for Chlamydia pneumoniae and Helicobacter pylori on markers of inflammation and cardiac events in patients with acute coronary syndromes: South Thames Trial of Antibiotics in Myocardial Infarction and Unstable Angina (STAMINA). Circulation 106:1219-1223.
-
(2002)
Circulation
, vol.106
, pp. 1219-1223
-
-
Stone, A.F.1
Mendall, M.A.2
Kaski, J.C.3
Edger, T.M.4
Risley, P.5
Poloniecki, J.6
Camm, A.J.7
Northfield, T.C.8
-
79
-
-
18444364206
-
Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia
-
Straub RE, Jiang Y, MacLean CJ, Ma Y, Webb BT, Myakishev MV, Harris-Kerr C, Wormley B, Sadek H, Kadambi B, Cesare AJ, Gibberman A, Wang X, O'Neill FA, Walsh D, Kendler KS. 2002. Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am J Hum Genet 71:337-348.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 337-348
-
-
Straub, R.E.1
Jiang, Y.2
MacLean, C.J.3
Ma, Y.4
Webb, B.T.5
Myakishev, M.V.6
Harris-Kerr, C.7
Wormley, B.8
Sadek, H.9
Kadambi, B.10
Cesare, A.J.11
Gibberman, A.12
Wang, X.13
O'Neill, F.A.14
Walsh, D.15
Kendler, K.S.16
-
81
-
-
0035968605
-
Advances in hereditary deafness
-
Tekin M, Arnos KS, Pandya A. 2001. Advances in hereditary deafness. Lancet 358:1082-1090.
-
(2001)
Lancet
, vol.358
, pp. 1082-1090
-
-
Tekin, M.1
Arnos, K.S.2
Pandya, A.3
-
82
-
-
0035919696
-
Haplotype diversity and linkage disequilibrium at human G6PD: Recent origin of alleles that confer malarial resistance
-
Tishkoff SA, Varkonyi R, Cahinhinan N, Abbes S, Argyropoulos G, Destro-Bisol G, Drousiotou A, Dangerfield B, Lefranc G, Loiselet J, Piro A, Stoneking M, Tagarelli A, Tagarelli G, Touma EH, Williams SM, Clark AG. 2001. Haplotype diversity and linkage disequilibrium at human G6PD: recent origin of alleles that confer malarial resistance. Science 293:455-462.
-
(2001)
Science
, vol.293
, pp. 455-462
-
-
Tishkoff, S.A.1
Varkonyi, R.2
Cahinhinan, N.3
Abbes, S.4
Argyropoulos, G.5
Destro-Bisol, G.6
Drousiotou, A.7
Dangerfield, B.8
Lefranc, G.9
Loiselet, J.10
Piro, A.11
Stoneking, M.12
Tagarelli, A.13
Tagarelli, G.14
Touma, E.H.15
Williams, S.M.16
Clark, A.G.17
-
83
-
-
0031558802
-
Seasonality of births in schizophrenia and bipolar disorder: A review of the literature
-
Torrey EF, Miller J, Rawlings R, Yolken RH. 1997. Seasonality of births in schizophrenia and bipolar disorder: a review of the literature. Schizophr Res 28:1-38.
-
(1997)
Schizophr Res
, vol.28
, pp. 1-38
-
-
Torrey, E.F.1
Miller, J.2
Rawlings, R.3
Yolken, R.H.4
-
84
-
-
0037380723
-
Comparative genomics: Genome-wide analysis in metazoan eukaryotes
-
Ureta-Vidal A, Ettwiller L, Birney E. 2003. Comparative genomics: genome-wide analysis in metazoan eukaryotes. Nat Rev Genet 4:251-262.
-
(2003)
Nat Rev Genet
, vol.4
, pp. 251-262
-
-
Ureta-Vidal, A.1
Ettwiller, L.2
Birney, E.3
-
85
-
-
0035573049
-
Update on the molecular genetics of retinitis pigmentosa
-
Wang Q, Chen Q, Zhao K, Wang L, Traboulsi EI. 2001. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet 22:133-154.
-
(2001)
Ophthalmic Genet
, vol.22
, pp. 133-154
-
-
Wang, Q.1
Chen, Q.2
Zhao, K.3
Wang, L.4
Traboulsi, E.I.5
-
86
-
-
0036137130
-
Linkage disequilibrium and the mapping of complex human traits
-
Weiss KM, Clark AG. 2002. Linkage disequilibrium and the mapping of complex human traits. Trends Genet 18:19-24.
-
(2002)
Trends Genet
, vol.18
, pp. 19-24
-
-
Weiss, K.M.1
Clark, A.G.2
-
87
-
-
0020957686
-
A case-control study in northern Liberia of Plasmodium falciparum malaria in haemoglobin S and beta-thalassaemia traits
-
Willcox M, Bjorkman A, Brohult J, Pehrson PO, Rombo L, Bengtsson E. 1983. A case-control study in northern Liberia of Plasmodium falciparum malaria in haemoglobin S and beta-thalassaemia traits. Ann Trop Med Parasitol 77:239-246.
-
(1983)
Ann Trop Med Parasitol
, vol.77
, pp. 239-246
-
-
Willcox, M.1
Bjorkman, A.2
Brohult, J.3
Pehrson, P.O.4
Rombo, L.5
Bengtsson, E.6
-
88
-
-
0035495857
-
The germless theory of allergic disease: Revisiting the hygiene hypothesis
-
Wills-Karp M, Santeliz J, Karp CL. 2001. The germless theory of allergic disease: revisiting the hygiene hypothesis. Nat Rev Immunol 1:69-75.
-
(2001)
Nat Rev Immunol
, vol.1
, pp. 69-75
-
-
Wills-Karp, M.1
Santeliz, J.2
Karp, C.L.3
-
89
-
-
2442735162
-
Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: A systematic analysis of predisposing mutations and allelic variation in the PRNP gene
-
Windl O, Dempster M, Estibeiro JP, Lathe R, de Silva R, Esmonde T, Will R, Springbett A, Campbell TA, Sidle KC, Palmer MS, Collinge J. 1996. Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene. Hum Genet 98:259-264.
-
(1996)
Hum Genet
, vol.98
, pp. 259-264
-
-
Windl, O.1
Dempster, M.2
Estibeiro, J.P.3
Lathe, R.4
De Silva, R.5
Esmonde, T.6
Will, R.7
Springbett, A.8
Campbell, T.A.9
Sidle, K.C.10
Palmer, M.S.11
Collinge, J.12
-
90
-
-
0141740723
-
The muscular dystrophies
-
Scriver C, editor. New York: McGraw-Hill
-
Worton RG, Molnar MJ, Brais B, Karpati G. 2001. The muscular dystrophies. In: Scriver C, editor. The metabolic basis of inherited disease. New York: McGraw-Hill. p 5493-5523.
-
(2001)
The Metabolic Basis of Inherited Disease
, pp. 5493-5523
-
-
Worton, R.G.1
Molnar, M.J.2
Brais, B.3
Karpati, G.4
-
91
-
-
0033598664
-
Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea
-
Zimmerman PA, Woolley I, Masinde GL, Miller SM, McNamara DT, Hazlett F, Mgone CS, Alpers MP, Genton B, Boatin BA, Kazura JW. 1999. Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea. Proc Natl Acad Sci USA 96:13973-13977.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 13973-13977
-
-
Zimmerman, P.A.1
Woolley, I.2
Masinde, G.L.3
Miller, S.M.4
McNamara, D.T.5
Hazlett, F.6
Mgone, C.S.7
Alpers, M.P.8
Genton, B.9
Boatin, B.A.10
Kazura, J.W.11
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