-
1
-
-
22044432781
-
Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes
-
Bonifati V, Rohe CF, Breedveld GJ, et al. 2005. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology, 65:87-95.
-
(2005)
Neurology
, vol.65
, pp. 87-95
-
-
Bonifati, V.1
Rohe, C.F.2
Breedveld, G.J.3
-
3
-
-
33751349817
-
Accurate and reliable high-throughput detection of copy number variation in the human genome
-
Fiegler H, Redon R, Andrews D, et al. 2006. Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res, 16:1566-74.
-
(2006)
Genome Res
, vol.16
, pp. 1566-1574
-
-
Fiegler, H.1
Redon, R.2
Andrews, D.3
-
4
-
-
33749667345
-
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: First stage analysis and public release of data
-
Fung HC, Scholz S, Matarin M, et al. 2006. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol, 5:911-16.
-
(2006)
Lancet Neurol
, vol.5
, pp. 911-916
-
-
Fung, H.C.1
Scholz, S.2
Matarin, M.3
-
5
-
-
0036654314
-
Genetics of parkinsonism
-
Gwinn-Hardy K. 2002. Genetics of parkinsonism. Mov Disord, 17:645-56.
-
(2002)
Mov Disord
, vol.17
, pp. 645-656
-
-
Gwinn-Hardy, K.1
-
6
-
-
0027210957
-
Predicting the performance of a strategic alliance: An analysis of the Community Clinical Oncology Program
-
Kaluzny AD, Lacey LM, Warnecke R, et al. 1993. Predicting the performance of a strategic alliance: an analysis of the Community Clinical Oncology Program. Health Serv Res, 28:159-82.
-
(1993)
Health Serv Res
, vol.28
, pp. 159-182
-
-
Kaluzny, A.D.1
Lacey, L.M.2
Warnecke, R.3
-
7
-
-
33644536070
-
The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites
-
Kapetanaki MG, Guerrero-Santoro J, Bisi DC, et al. 2006. The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites. Proc Natl Acad Sci USA, 103:2588-93.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 2588-2593
-
-
Kapetanaki, M.G.1
Guerrero-Santoro, J.2
Bisi, D.C.3
-
8
-
-
33751340401
-
Genorne assembly comparison identifies structural variants in the human genorne
-
Khaja R, Zhang J, Macdonald JR, et al. 2006. Genorne assembly comparison identifies structural variants in the human genorne. Nat Genet, 38:1413-18.
-
(2006)
Nat Genet
, vol.38
, pp. 1413-1418
-
-
Khaja, R.1
Zhang, J.2
Macdonald, J.R.3
-
9
-
-
33645742063
-
APOE alleles predict the rate of cognitive decline in Alzheimer disease: A nonlinear model
-
Martins CA, Oulhaj A, de Jager, et al. 2005. APOE alleles predict the rate of cognitive decline in Alzheimer disease: a nonlinear model. Neurology, 65:1888-93.
-
(2005)
Neurology
, vol.65
, pp. 1888-1893
-
-
Martins, C.A.1
Oulhaj, A.2
de Jager3
-
10
-
-
32444444090
-
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome
-
Matsuura S, Matsumoto Y, Morishima K, et al. 2006. Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. Am J Med Genet A, 140:358-67.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 358-367
-
-
Matsuura, S.1
Matsumoto, Y.2
Morishima, K.3
-
13
-
-
0021318669
-
Framingham Heart Study: Review of genetic data and design, limitations and prospects
-
Namboodiri KK. 1984. Framingham Heart Study: review of genetic data and design, limitations and prospects. Prog Clin Biol Res, 147:65-78.
-
(1984)
Prog Clin Biol Res
, vol.147
, pp. 65-78
-
-
Namboodiri, K.K.1
-
14
-
-
32044453611
-
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease
-
Nishioka K, Hayashi S, Farrer MJ, et al. 2006. Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol, 59:298-309.
-
(2006)
Ann Neurol
, vol.59
, pp. 298-309
-
-
Nishioka, K.1
Hayashi, S.2
Farrer, M.J.3
-
16
-
-
33746610267
-
Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research
-
Ragoussis J, Elvidge GP, Kaur K, et al. 2006. Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research. PLoS Genet, 2:e100.
-
(2006)
PLoS Genet
, vol.2
-
-
Ragoussis, J.1
Elvidge, G.P.2
Kaur, K.3
-
17
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, et al. 2006. Global variation in copy number in the human genome. Nature, 444:444-54.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
-
18
-
-
33745686067
-
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations
-
Rivolta C, McGee TL, Rio Frio T, et al. 2006. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat, 27:644-53.
-
(2006)
Hum Mutat
, vol.27
, pp. 644-653
-
-
Rivolta, C.1
McGee, T.L.2
Rio Frio, T.3
-
19
-
-
21144433087
-
Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease
-
Simon-Sanchez J, Hanson M, Singleton A, et al. 2005. Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett, 382:191-4.
-
(2005)
Neurosci Lett
, vol.382
, pp. 191-194
-
-
Simon-Sanchez, J.1
Hanson, M.2
Singleton, A.3
-
20
-
-
36049019860
-
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
-
Simon-Sanchez J, Scholz S, Fung HC, et al. 2006. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet.
-
(2006)
Hum Mol Genet
-
-
Simon-Sanchez, J.1
Scholz, S.2
Fung, H.C.3
-
21
-
-
0013375948
-
Neuregulin 1 and susceptibility to schizophrenia
-
Stefansson H, Sigurdsson, Steinthorsdottir V, et al. 2002. Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet, 71:877-92.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 877-892
-
-
Stefansson, H.1
-
22
-
-
34047214632
-
Detecting copy number variation in the human genome using comparative genomic hybridization
-
passim
-
Tchinda J, Lee C. 2006. Detecting copy number variation in the human genome using comparative genomic hybridization. Biotechniques, 41:385, 387, 389 passim.
-
(2006)
Biotechniques
, vol.41
-
-
Tchinda, J.1
Lee, C.2
-
23
-
-
13144265739
-
Genome-wide association studies: Theoretical and practical concerns
-
Wang WY, Barratt BJ, Clayton DG, et al. 2005. Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet, 6:109-18.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 109-118
-
-
Wang, W.Y.1
Barratt, B.J.2
Clayton, D.G.3
-
24
-
-
33751541872
-
Copy number variation in the genome; the human DMD gene as an example
-
White SJ, den Dunnen JT. 2006. Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res, 115:240-6.
-
(2006)
Cytogenet Genome Res
, vol.115
, pp. 240-246
-
-
White, S.J.1
den Dunnen, J.T.2
-
25
-
-
33750370804
-
Understanding the molecular causes of Parkinson's disease
-
Wood-Kaczrnar A, Gandhi S, Wood NW. 2006. Understanding the molecular causes of Parkinson's disease. Trends Mol Med, 12:521-8.
-
(2006)
Trends Mol Med
, vol.12
, pp. 521-528
-
-
Wood-Kaczrnar, A.1
Gandhi, S.2
Wood, N.W.3
-
26
-
-
0016667151
-
Lymphoblastoid transformation and kinetics of appearance of viral nuclear antigen (EBNA) in cord-blood lymphocytes infected by Epstein-Barr Virus (EBV)
-
Yata J, Desgranges C, Nakagawa T, et al. 1975. Lymphoblastoid transformation and kinetics of appearance of viral nuclear antigen (EBNA) in cord-blood lymphocytes infected by Epstein-Barr Virus (EBV). Int J Cancer, 15:377-84.
-
(1975)
Int J Cancer
, vol.15
, pp. 377-384
-
-
Yata, J.1
Desgranges, C.2
Nakagawa, T.3
-
27
-
-
34247548755
-
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24
-
Yeager M, Orr N, Hayes RB, et al. 2007. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat Genet.
-
(2007)
Nat Genet
-
-
Yeager, M.1
Orr, N.2
Hayes, R.B.3
|