-
1
-
-
34347348166
-
Challenges and standards in integrating surveys of structural variation
-
Scherer SW, Lee C, Birney E, Altshuler DM, Eichler EE, Carter NP, et al. Challenges and standards in integrating surveys of structural variation. Nat Genet 2007;39:S7-15.
-
(2007)
Nat Genet
, vol.39
-
-
Scherer, S.W.1
Lee, C.2
Birney, E.3
Altshuler, D.M.4
Eichler, E.E.5
Carter, N.P.6
-
2
-
-
70350221909
-
Copy number variation in human health, disease, and evolution
-
Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genom Hum G 2009;10:451-481
-
(2009)
Annu Rev Genom Hum G
, vol.10
, pp. 451-481
-
-
Zhang, F.1
Gu, W.2
Hurles, M.E.3
Lupski, J.R.4
-
3
-
-
64149089370
-
Microarray-based genomic DNA profiling technologies in clinical molecular diagnostics
-
Shen Y, Wu B. Microarray-based genomic DNA profiling technologies in clinical molecular diagnostics. Clin Chem 2009; 55:659-669
-
(2009)
Clin Chem
, vol.55
, pp. 659-669
-
-
Shen, Y.1
Wu, B.2
-
4
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, et al. Origins and functional impact of copy number variation in the human genome. Nature 2010;464:713-720
-
(2010)
Nature
, vol.464
, pp. 713-720
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
-
5
-
-
16844371343
-
Frequency of new copy number variation in humans
-
van Ommen GJ. Frequency of new copy number variation in humans. Nat Genet 2005;37:333-334
-
(2005)
Nat Genet
, vol.37
, pp. 333-334
-
-
Van Ommen, G.J.1
-
6
-
-
69249088165
-
MicroRNAs: Critical mediators of differentiation, development and disease
-
Friedman JM, Jones PA. MicroRNAs: critical mediators of differentiation, development and disease. Swiss Med Wkly 2009; 139:466-472
-
(2009)
Swiss Med Wkly
, vol.139
, pp. 466-472
-
-
Friedman, J.M.1
Jones, P.A.2
-
7
-
-
61449339872
-
DNA methylation: An introduction to the biology and the disease-associated changes of a promising biomarker
-
Tost J. DNA methylation: an introduction to the biology and the disease-associated changes of a promising biomarker. Methods Mol Biol 2009;507:3-20.
-
(2009)
Methods Mol Biol
, vol.507
, pp. 3-20
-
-
Tost, J.1
-
8
-
-
67650046461
-
Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis
-
Elce A, Boccia A, Cardillo G, Giordano S, Tomaiuolo R, Paolella G, et al. Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem 2009;55: 1372-1379
-
(2009)
Clin Chem
, vol.55
, pp. 1372-1379
-
-
Elce, A.1
Boccia, A.2
Cardillo, G.3
Giordano, S.4
Tomaiuolo, R.5
Paolella, G.6
-
10
-
-
0037157787
-
Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes
-
Review
-
Salvatore F, Scudiero O, Castaldo G. Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet 2002;111:88-95. Review.
-
(2002)
Am J Med Genet
, vol.111
, pp. 88-95
-
-
Salvatore, F.1
Scudiero, O.2
Castaldo, G.3
-
11
-
-
70149106634
-
Genetic modifiers of liver disease in cystic fibrosis
-
Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, et al. Genetic modifiers of liver disease in cystic fibrosis. J Am Med Assoc 2009;302:1076-1083
-
(2009)
J Am Med Assoc
, vol.302
, pp. 1076-1083
-
-
Bartlett, J.R.1
Friedman, K.J.2
Ling, S.C.3
Pace, R.G.4
Bell, S.C.5
Bourke, B.6
-
12
-
-
34247332316
-
Haemophilia A: Molecular insights
-
Review
-
Castaldo G, D'Argenio V, Nardiello P, Zarrilli F, Sanna V, Rocino A, et al. Haemophilia A: molecular insights. Clin Chem Lab Med 2007;45:450-461 Review.
-
(2007)
Clin Chem Lab Med
, vol.45
, pp. 450-461
-
-
Castaldo, G.1
D'Argenio, V.2
Nardiello, P.3
Zarrilli, F.4
Sanna, V.5
Rocino, A.6
-
13
-
-
0038735501
-
Haemophilia B: From molecular diagnosis to gene therapy wreviewx
-
Castaldo G, Nardiello P, Bellitti F, Santamaria R, Rocino A, Coppola A, et al. Haemophilia B: from molecular diagnosis to gene therapy wreviewx. Clin Chem Lab Med 2003;41:445-451
-
(2003)
Clin Chem Lab Med
, vol.41
, pp. 445-451
-
-
Castaldo, G.1
Nardiello, P.2
Bellitti, F.3
Santamaria, R.4
Rocino, A.5
Coppola, A.6
-
14
-
-
47649133258
-
Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from southern Italy
-
Sanna V, Zarrilli F, Nardiello P, D'Argenio V, Rocino A, Coppola A, et al. Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from southern Italy. Haemophilia 2008;14:796-803.
-
(2008)
Haemophilia
, vol.14
, pp. 796-803
-
-
Sanna, V.1
Zarrilli, F.2
Nardiello, P.3
D'Argenio, V.4
Rocino, A.5
Coppola, A.6
-
15
-
-
0037146578
-
Finding genes that underlie complex traits
-
Glazier AM, Nadeau JH, Aitman TJ. Finding genes that underlie complex traits. Science 2002;298:2345-2349
-
(2002)
Science
, vol.298
, pp. 2345-2349
-
-
Glazier, A.M.1
Nadeau, J.H.2
Aitman, T.J.3
-
16
-
-
42349112088
-
Genome-wide association studies for complex traits: Consensus, uncertainty and challenges
-
McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008;9:356-359
-
(2008)
Nat Rev Genet
, vol.9
, pp. 356-359
-
-
McCarthy, M.I.1
Abecasis, G.R.2
Cardon, L.R.3
Goldstein, D.B.4
Little, J.5
Ioannidis, J.P.6
-
17
-
-
41149120561
-
A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions
-
Janssens AC, Gwinn M, Bradley LA, Oostra BA, van Duijn CM, Khoury MJ. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 2008;82: 593-599
-
(2008)
Am J Hum Genet
, vol.82
, pp. 593-599
-
-
Janssens, A.C.1
Gwinn, M.2
Bradley, L.A.3
Oostra, B.A.4
Van Duijn, C.M.5
Khoury, M.J.6
-
18
-
-
34548032087
-
Genome-wide association studies provide new insights into type 2 diabetes aetiology
-
Frayling TM. Genome-wide association studies provide new insights into type 2 diabetes aetiology. Nat Rev Genet 2007; 8:657-662
-
(2007)
Nat Rev Genet
, vol.8
, pp. 657-662
-
-
Frayling, T.M.1
-
19
-
-
34250006413
-
Genome-wide association study identifies novel breast cancer susceptibility loci
-
Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007; 447:1087-1093
-
(2007)
Nature
, vol.447
, pp. 1087-1093
-
-
Easton, D.F.1
Pooley, K.A.2
Dunning, A.M.3
Pharoah, P.D.4
Thompson, D.5
Ballinger, D.G.6
-
20
-
-
34250001297
-
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
-
Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007;39:870-874
-
(2007)
Nat Genet
, vol.39
, pp. 870-874
-
-
Hunter, D.J.1
Kraft, P.2
Jacobs, K.B.3
Cox, D.G.4
Yeager, M.5
Hankinson, S.E.6
-
21
-
-
34250002140
-
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
-
Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007;39:865-869
-
(2007)
Nat Genet
, vol.39
, pp. 865-869
-
-
Stacey, S.N.1
Manolescu, A.2
Sulem, P.3
Rafnar, T.4
Gudmundsson, J.5
Gudjonsson, S.A.6
-
22
-
-
34247563453
-
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
-
Gudmundsson J, Sulem P, Manolescu A, Amundadottir LT, Gudbjartsson D, Helgason A, et al. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat Genet 2007;39:631-637
-
(2007)
Nat Genet
, vol.39
, pp. 631-637
-
-
Gudmundsson, J.1
Sulem, P.2
Manolescu, A.3
Amundadottir, L.T.4
Gudbjartsson, D.5
Helgason, A.6
-
23
-
-
34249996115
-
A common allele on chromosome 9 associated with coronary heart disease
-
McPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, et al. A common allele on chromosome 9 associated with coronary heart disease. Science 2007;316:1488-1491
-
(2007)
Science
, vol.316
, pp. 1488-1491
-
-
McPherson, R.1
Pertsemlidis, A.2
Kavaslar, N.3
Stewart, A.4
Roberts, R.5
Cox, D.R.6
-
24
-
-
33845340501
-
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
-
Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006; 314:1461-1463
-
(2006)
Science
, vol.314
, pp. 1461-1463
-
-
Duerr, R.H.1
Taylor, K.D.2
Brant, S.R.3
Rioux, J.D.4
Silverberg, M.S.5
Daly, M.J.6
-
25
-
-
44349136821
-
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease
-
Fisher SA, Tremelling M, Anderson CA, Gwilliam R, Bumpstead S, Prescott NJ, et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet 2008;40:710-712
-
(2008)
Nat Genet
, vol.40
, pp. 710-712
-
-
Fisher, S.A.1
Tremelling, M.2
Anderson, C.A.3
Gwilliam, R.4
Bumpstead, S.5
Prescott, N.J.6
-
26
-
-
33751349817
-
Accurate and reliable high-throughput detection of copy number variation in the human genome
-
Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, et al. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res 2006;16:1566-1574
-
(2006)
Genome Res
, vol.16
, pp. 1566-1574
-
-
Fiegler, H.1
Redon, R.2
Andrews, D.3
Scott, C.4
Andrews, R.5
Carder, C.6
-
27
-
-
62549134411
-
Mechanisms for human genomic rearrangements
-
Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics 2008;1:4.
-
(2008)
Pathogenetics
, vol.1
, pp. 4
-
-
Gu, W.1
Zhang, F.2
Lupski, J.R.3
-
28
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, et al. Mapping and sequencing of structural variation from eight human genomes. Nature 2008;453:56-64.
-
(2008)
Nature
, vol.453
, pp. 56-64
-
-
Kidd, J.M.1
Cooper, G.M.2
Donahue, W.F.3
Hayden, H.S.4
Sampas, N.5
Graves, T.6
-
29
-
-
41849091509
-
Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies
-
Lee AS, Gutiérrez-Arcelus M, Perry GH, Vallender EJ, Johnson WE, Miller GM, et al. Analysis of copy number variation in the rhesus macaque genome identifies candidate loci for evolutionary and human disease studies. Hum Mol Genet 2008; 17:1127-1136
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1127-1136
-
-
Lee, A.S.1
Gutiérrez-Arcelus, M.2
Perry, G.H.3
Vallender, E.J.4
Johnson, W.E.5
Miller, G.M.6
-
30
-
-
75149117020
-
Genomewide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients
-
Thean LF, Loi C, Ho KS, Koh PK, Eu KW, Cheah PY. Genomewide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients. Gene Chromosome Canc 2010;49:99-106.
-
(2010)
Gene Chromosome Canc
, vol.49
, pp. 99-106
-
-
Thean, L.F.1
Loi, C.2
Ho, K.S.3
Koh, P.K.4
Eu, K.W.5
Cheah, P.Y.6
-
31
-
-
39749197456
-
Genotype, haplotype and copy-number variation in worldwide human populations
-
Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung H, et al. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 2008;451:998-1003.
-
(2008)
Nature
, vol.451
, pp. 998-1003
-
-
Jakobsson, M.1
Scholz, S.W.2
Scheet, P.3
Gibbs, J.R.4
Van Liere, J.M.5
Fung, H.6
-
32
-
-
34447569298
-
Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability
-
Beckmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet 2007;8:639-646
-
(2007)
Nat Rev Genet
, vol.8
, pp. 639-646
-
-
Beckmann, J.S.1
Estivill, X.2
Antonarakis, S.E.3
-
34
-
-
0037047628
-
Recent segmental duplications in the human genome
-
Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, et al. Recent segmental duplications in the human genome. Science 2002;297:1003-1007
-
(2002)
Science
, vol.297
, pp. 1003-1007
-
-
Bailey, J.A.1
Gu, Z.2
Clark, R.A.3
Reinert, K.4
Samonte, R.V.5
Schwartz, S.6
-
35
-
-
20144389041
-
Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations
-
Vankeerberghen A, Scudiero O, Salvatore F, Macek M, Castaldo G, Pignatti PF, et al. Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Genomics 2005;85:574-581
-
(2005)
Genomics
, vol.85
, pp. 574-581
-
-
Vankeerberghen, A.1
Scudiero, O.2
Salvatore, F.3
MacEk, M.4
Castaldo, G.5
Pignatti, P.F.6
-
36
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 2005;307:1434-1440
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
Catano, G.6
-
37
-
-
67649289900
-
Copy number variation at 1q21.1 associated with neuroblastoma
-
Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, et al. Copy number variation at 1q21.1 associated with neuroblastoma. Nature 2009;459:987-991
-
(2009)
Nature
, vol.459
, pp. 987-991
-
-
Diskin, S.J.1
Hou, C.2
Glessner, J.T.3
Attiyeh, E.F.4
Laudenslager, M.5
Bosse, K.6
-
38
-
-
70349739657
-
Structural chromosomal variations in neurological diseases
-
Kalman B, Vitale E. Structural chromosomal variations in neurological diseases. Neurologist 2009;15:245-253
-
(2009)
Neurologist
, vol.15
, pp. 245-253
-
-
Kalman, B.1
Vitale, E.2
-
39
-
-
69949177829
-
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
-
Guilmatre A, Dubourg C, Mosca A, Legallic S, Goldenberg A, Drouin-Garraud V, et al. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiat 2009;66:947-956
-
(2009)
Arch Gen Psychiat
, vol.66
, pp. 947-956
-
-
Guilmatre, A.1
Dubourg, C.2
Mosca, A.3
Legallic, S.4
Goldenberg, A.5
Drouin-Garraud, V.6
-
40
-
-
84856818976
-
Common variants in polygenic schizophrenia
-
Glessner JT, Hakonarson H. Common variants in polygenic schizophrenia. Genome Biol 2009;10:236.
-
(2009)
Genome Biol
, vol.10
, pp. 236
-
-
Glessner, J.T.1
Hakonarson, H.2
-
41
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, Steinberg S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008;455:232-238
-
(2008)
Nature
, vol.455
, pp. 232-238
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Pietiläinen, O.P.4
Ingason, A.5
Steinberg, S.6
-
42
-
-
70649089208
-
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
-
Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, et al. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet 2009;41:1269-1271
-
(2009)
Nat Genet
, vol.41
, pp. 1269-1271
-
-
Shinawi, M.1
Schaaf, C.P.2
Bhatt, S.S.3
Xia, Z.4
Patel, A.5
Cheung, S.W.6
-
43
-
-
33644873796
-
Copy number variants and pharmacogenomics wreviewx
-
Ouahchi K, Lindeman N, Lee C. Copy number variants and pharmacogenomics wreviewx. Pharmacogenomics 2006;7:25-29
-
(2006)
Pharmacogenomics
, vol.7
, pp. 25-29
-
-
Ouahchi, K.1
Lindeman, N.2
Lee, C.3
-
44
-
-
33846798265
-
Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy
-
Meyer zu Horste G, Prukop T, Liebetanz D, Mobius W, Nave KA, Sereda MW. Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. Ann Neurol 2007;61:61-72.
-
(2007)
Ann Neurol
, vol.61
, pp. 61-72
-
-
Meyerzu Horste, G.1
Prukop, T.2
Liebetanz, D.3
Mobius, W.4
Nave, K.A.5
Sereda, M.W.6
-
45
-
-
0347185347
-
Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
-
Sereda MW, Meyer zu Hörste G, Suter U, Uzma N, Nave KA. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 2003;9:1533-1537
-
(2003)
Nat Med
, vol.9
, pp. 1533-1537
-
-
Sereda, M.W.1
Meyerzu Hörste, G.2
Suter, U.3
Uzma, N.4
Nave, K.A.5
-
46
-
-
49949116902
-
The impact of microRNAs on protein output
-
Baek D, Villén J, Shin C, Camargo FD, Gygi SP, Bartel DP. The impact of microRNAs on protein output. Nature 2008; 455:64-71.
-
(2008)
Nature
, vol.455
, pp. 64-71
-
-
Baek, D.1
Villén, J.2
Shin, C.3
Camargo, F.D.4
Gygi, S.P.5
Bartel, D.P.6
-
47
-
-
49949117302
-
Widespread changes in protein synthesis induced by microRNAs
-
Selbach M, Schwanhäusser B, Thierfelder N, Fang Z, Khanin R, Rajewsky N. Widespread changes in protein synthesis induced by microRNAs. Nature 2008;455:58-63.
-
(2008)
Nature
, vol.455
, pp. 58-63
-
-
Selbach, M.1
Schwanhäusser, B.2
Thierfelder, N.3
Fang, Z.4
Khanin, R.5
Rajewsky, N.6
-
48
-
-
0034708122
-
The 21-nucleotide let-7 RNA regulates developmental timing in Caenorhabditis elegans
-
Reinhart BJ, Slack FJ, Basson M, Pasquinelli AE, Bettinger JC, Rougvie AE, et al. The 21-nucleotide let-7 RNA regulates developmental timing in Caenorhabditis elegans. Nature 2000; 403:901-906
-
(2000)
Nature
, vol.403
, pp. 901-906
-
-
Reinhart, B.J.1
Slack, F.J.2
Basson, M.3
Pasquinelli, A.E.4
Bettinger, J.C.5
Rougvie, A.E.6
-
49
-
-
20544458318
-
Stem cell division is regulated by the microRNA pathway
-
Hatfield SD, Shcherbata HR, Fischer KA, Nakahara K, Carthew RW, Ruohola-Baker H. Stem cell division is regulated by the microRNA pathway. Nature 2005;435:974-978
-
(2005)
Nature
, vol.435
, pp. 974-978
-
-
Hatfield, S.D.1
Shcherbata, H.R.2
Fischer, K.A.3
Nakahara, K.4
Carthew, R.W.5
Ruohola-Baker, H.6
-
50
-
-
31144479591
-
A brain-specific microRNA regulates dendritic spine development
-
Schratt GM, Tuebing F, Nigh EA, Kane CG, Sabatini ME, Kiebler M, et al. A brain-specific microRNA regulates dendritic spine development. Nature 2006;439:283-289
-
(2006)
Nature
, vol.439
, pp. 283-289
-
-
Schratt, G.M.1
Tuebing, F.2
Nigh, E.A.3
Kane, C.G.4
Sabatini, M.E.5
Kiebler, M.6
-
51
-
-
40749111551
-
A skin microRNA promotes differentiation by repressing 'stemness'
-
Yi R, Poy MN, Stoffel M, Fuchs E. A skin microRNA promotes differentiation by repressing 'stemness'. Nature 2008;452: 225-229
-
(2008)
Nature
, vol.452
, pp. 225-229
-
-
Yi, R.1
Poy, M.N.2
Stoffel, M.3
Fuchs, E.4
-
52
-
-
22444437609
-
Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis
-
Zhao Y, Samal E, Srivastava D. Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis. Nature 2005;436:214-220
-
(2005)
Nature
, vol.436
, pp. 214-220
-
-
Zhao, Y.1
Samal, E.2
Srivastava, D.3
-
53
-
-
44049108170
-
Loss of microRNA cluster miR-29a/b-1 in sporadic Alzheimer's disease correlates with increased BACE1/beta-secretase expression
-
Hébert SS, Horré K, Nicola L, Papadopoulou AS, Mandemakers W, Silahtaroglu AN, et al. Loss of microRNA cluster miR-29a/b-1 in sporadic Alzheimer's disease correlates with increased BACE1/beta-secretase expression. Proc Natl Acad Sci 2008;105:6415-6420
-
(2008)
Proc Natl Acad Sci
, vol.105
, pp. 6415-6420
-
-
Hébert, S.S.1
Horré, K.2
Nicola, L.3
Papadopoulou, A.S.4
Mandemakers, W.5
Silahtaroglu, A.N.6
-
54
-
-
34548537573
-
A microRNA feedback circuit in midbrain dopamine neurons
-
Kim J, Inoue K, Ishii J, Vanti WB, Voronov SV, Murchison E, et al. A microRNA feedback circuit in midbrain dopamine neurons. Science 2007;317:1220-1224
-
(2007)
Science
, vol.317
, pp. 1220-1224
-
-
Kim, J.1
Inoue, K.2
Ishii, J.3
Vanti, W.B.4
Voronov, S.V.5
Murchison, E.6
-
55
-
-
70349320158
-
Causes and consequences of microRNA dysregulation in cancer
-
Croce CM. Causes and consequences of microRNA dysregulation in cancer. Nat Rev Genet 2009;10:704-714
-
(2009)
Nat Rev Genet
, vol.10
, pp. 704-714
-
-
Croce, C.M.1
-
56
-
-
48749122914
-
Circulating microRNAs as stable blood-based markers for cancer detection
-
Mitchell PS, Parkin RK, Kroh EM, Fritz BR, Wyman SK, Pogosova-Agadjanyan EL, et al. Circulating microRNAs as stable blood-based markers for cancer detection. Proc Natl Acad Sci 2008;105:10513-10518
-
(2008)
Proc Natl Acad Sci
, vol.105
, pp. 10513-10518
-
-
Mitchell, P.S.1
Parkin, R.K.2
Kroh, E.M.3
Fritz, B.R.4
Wyman, S.K.5
Pogosova-Agadjanyan, E.L.6
-
57
-
-
28444469246
-
Silencing of microRNAs in vivo with 'antagomirs'
-
Krützfeldt J, Rajewsky N, Braich R, Rajeev KG, Tuschl T, Manoharan M, et al. Silencing of microRNAs in vivo with 'antagomirs'. Nature 2005;438:685-689
-
(2005)
Nature
, vol.438
, pp. 685-689
-
-
Krützfeldt, J.1
Rajewsky, N.2
Braich, R.3
Rajeev, K.G.4
Tuschl, T.5
Manoharan, M.6
-
58
-
-
42249093319
-
LNA-mediated microRNA silencing in non-human primates
-
Elmén J, Lindow M, Schütz S, Lawrence M, Petri A, Obad S, et al. LNA-mediated microRNA silencing in non-human primates. Nature 2008;452:896-899
-
(2008)
Nature
, vol.452
, pp. 896-899
-
-
Elmén, J.1
Lindow, M.2
Schütz, S.3
Lawrence, M.4
Petri, A.5
Obad, S.6
-
59
-
-
56749185587
-
An international comparability study on quantification of total methyl cytosine content
-
Yang I, Kim S, Burke DG, Griffiths K, Kassir Z, Emslie KR, et al. An international comparability study on quantification of total methyl cytosine content. Anal Biochem 2009;384:288-295
-
(2009)
Anal Biochem
, vol.384
, pp. 288-295
-
-
Yang, I.1
Kim, S.2
Burke, D.G.3
Griffiths, K.4
Kassir, Z.5
Emslie, K.R.6
-
60
-
-
59749105927
-
Genome-wide high throughput analysis of DNA methylation in eukaryotes
-
Pomraning KR, Smith KM, Freitag M. Genome-wide high throughput analysis of DNA methylation in eukaryotes. Methods 2009;47:142-150
-
(2009)
Methods
, vol.47
, pp. 142-150
-
-
Pomraning, K.R.1
Smith, K.M.2
Freitag, M.3
-
61
-
-
77249087062
-
Genomic imprinting disorders in humans: A minireview
-
Butler MG. Genomic imprinting disorders in humans: a minireview. J Assist Reprod Gen 2009;26:477-486
-
(2009)
J Assist Reprod Gen
, vol.26
, pp. 477-486
-
-
Butler, M.G.1
-
62
-
-
33750244045
-
Hypomethylation of MB-COMT promoter is a major risk factor for schizophrenia and bipolar disorder
-
Abdolmaleky HM, Cheng KH, Faraone SV, Wilcox M, Glatt SJ, Gao F, et al. Hypomethylation of MB-COMT promoter is a major risk factor for schizophrenia and bipolar disorder. Hum Mol Genet 2006;15:3132-3145
-
(2006)
Hum Mol Genet
, vol.15
, pp. 3132-3145
-
-
Abdolmaleky, H.M.1
Cheng, K.H.2
Faraone, S.V.3
Wilcox, M.4
Glatt, S.J.5
Gao, F.6
-
63
-
-
34247095504
-
Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation
-
Nagarajan RP, Hogart AR, Gwye Y, Martin MR, LaSalle JM. Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics 2006;1:e1-11.
-
(2006)
Epigenetics
, vol.1
-
-
Nagarajan, R.P.1
Hogart, A.R.2
Gwye, Y.3
Martin, M.R.4
La Salle, J.M.5
-
64
-
-
34948906784
-
DNA methylation and systemic lupus erythematosus wreviewx
-
Balada E, Ordi-Ros J, Vilardell-Tarrés M. DNA methylation and systemic lupus erythematosus wreviewx. Ann NY Acad Sci 2007;1108:127-136
-
(2007)
Ann NY Acad Sci
, vol.1108
, pp. 127-136
-
-
Balada, E.1
Ordi-Ros, J.2
Vilardell-Tarrés, M.3
-
65
-
-
0034541591
-
Retrotransposable L1 elements expressed in rheumatoid arthritis synovial tissue: Association with genomic DNA hypomethylation and influence on gene expression
-
Neidhart M, Rethage J, Kuchen S, Künzler P, Crowl RM, Billingham ME, et al. Retrotransposable L1 elements expressed in rheumatoid arthritis synovial tissue: association with genomic DNA hypomethylation and influence on gene expression. Arthritis Rheum 2000;43:2634-2647
-
(2000)
Arthritis Rheum
, vol.43
, pp. 2634-2647
-
-
Neidhart, M.1
Rethage, J.2
Kuchen, S.3
Künzler, P.4
Crowl, R.M.5
Billingham, M.E.6
-
66
-
-
0038581890
-
Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease
-
Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, et al. Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nat Genet 2003;34:157-165
-
(2003)
Nat Genet
, vol.34
, pp. 157-165
-
-
Tufarelli, C.1
Stanley, J.A.2
Garrick, D.3
Sharpe, J.A.4
Ayyub, H.5
Wood, W.G.6
-
67
-
-
0020699979
-
Hypomethylation distinguishes genes of some human cancers from their normal counterparts
-
Feinberg AP, Vogelstein B. Hypomethylation distinguishes genes of some human cancers from their normal counterparts. Nature 1983;301:89-92.
-
(1983)
Nature
, vol.301
, pp. 89-92
-
-
Feinberg, A.P.1
Vogelstein, B.2
-
68
-
-
0038576158
-
The power and the promise of DNA methylation markers wreviewx
-
Laird PW. The power and the promise of DNA methylation markers wreviewx. Nat Rev Cancer 2003;3:253-266
-
(2003)
Nat Rev Cancer
, vol.3
, pp. 253-266
-
-
Laird, P.W.1
-
69
-
-
0033168068
-
Presence of tumor DNA in plasma of breast cancer patients: Clinicopathological correlations
-
Silva JM, Dominguez G, Garcia JM, Gonzalez R, Villanueva MJ, Navarro F, et al. Presence of tumor DNA in plasma of breast cancer patients: clinicopathological correlations. Cancer Res 1999;59:3251-3256 (Pubitemid 29316030)
-
(1999)
Cancer Research
, vol.59
, Issue.13
, pp. 3251-3256
-
-
Silva, J.M.1
Dominguez, G.2
Garcia, J.M.3
Gonzalez, R.4
Villanueva, M.J.5
Navarro, F.6
Provencio, M.7
Martin, S.S.8
Espana, P.9
Bonilla, F.10
-
70
-
-
0343621494
-
Aberrant CpG-island methylation has nonrandom and tumour-type-specific patterns
-
Costello JF, Frühwald MC, Smiraglia DJ, Rush LJ, Robertson GP, Gao X, et al. Aberrant CpG-island methylation has nonrandom and tumour-type-specific patterns. Nat Genet 2000; 24:132-138
-
(2000)
Nat Genet
, vol.24
, pp. 132-138
-
-
Costello, J.F.1
Frühwald, M.C.2
Smiraglia, D.J.3
Rush, L.J.4
Robertson, G.P.5
Gao, X.6
-
71
-
-
66649102517
-
Brain derived neurotrophic factor (BDNF) genetic polymorphism (Val66Met) in suicide: A study of 512 cases
-
Zarrilli F, Angiolillo A, Castaldo G, Chiariotti L, Keller S, Sacchetti S, et al. Brain derived neurotrophic factor (BDNF) genetic polymorphism (Val66Met) in suicide: a study of 512 cases. Am J Med Genet B Neuropsychiatr Genet 2009;150B:599-600.
-
(2009)
Am J Med Genet B Neuropsychiatr Genet
, vol.150 B
, pp. 599-600
-
-
Zarrilli, F.1
Angiolillo, A.2
Castaldo, G.3
Chiariotti, L.4
Keller, S.5
Sacchetti, S.6
-
72
-
-
77649194621
-
Increased BDNF promoter methylation in Wernicke's area of suicide subjects
-
Keller S, Sarchiapone M, Zagar T, Zarrilli F, Sacchetti S, Carli V, et al. Increased BDNF promoter methylation in Wernicke's area of suicide subjects. Arch Gen Psychiat 2010;67:258-267
-
(2010)
Arch Gen Psychiat
, vol.67
, pp. 258-267
-
-
Keller, S.1
Sarchiapone, M.2
Zagar, T.3
Zarrilli, F.4
Sacchetti, S.5
Carli, V.6
|