-
1
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff LA, Sethupathy P, Junkins HA et al: Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009; 106: 9362-9367.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
-
2
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio TA, Collins FS, Cox NJ et al: Finding the missing heritability of complex diseases. Nature 2009; 461: 747-753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
-
3
-
-
0036796422
-
Gene finding in genetically isolated populations
-
Heutink P, Oostra BA: Gene finding in genetically isolated populations. Hum Mol Genet 2002; 11: 2507-2515. (Pubitemid 35174715)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.20
, pp. 2507-2515
-
-
Heutink, P.1
Oostra, B.A.2
-
4
-
-
59949103364
-
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae
-
Lowe JK, Maller JB, Pe'er I et al: Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet 2009; 5: e1000365.
-
(2009)
PLoS Genet
, vol.5
-
-
Lowe, J.K.1
Maller, J.B.2
Pe'Er, I.3
-
5
-
-
18144362129
-
The effect of genetic drift in a young genetically isolated population
-
DOI 10.1046/j.1529-8817.2005.00162.x
-
Pardo LM, MacKay I, Oostra B, van Duijn CM, Aulchenko YS: The effect of genetic drift in a young genetically isolated population. Ann Hum Genet 2005; 69: 288-295. (Pubitemid 40613730)
-
(2005)
Annals of Human Genetics
, vol.69
, Issue.3
, pp. 288-295
-
-
Pardo, L.M.1
MacKay, I.2
Oostra, B.3
Van Duijn, C.M.4
Aulchenko, Y.S.5
-
6
-
-
56749098072
-
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis
-
Aulchenko YS, Hoppenbrouwers IA, Ramagopalan SV et al: Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet 2008; 40: 1402-1403.
-
(2008)
Nat Genet
, vol.40
, pp. 1402-1403
-
-
Aulchenko, Y.S.1
Hoppenbrouwers, I.A.2
Ramagopalan, S.V.3
-
7
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
-
DOI 10.1126/science.1077209
-
Bonifati V, Rizzu P, van Baren MJ et al: Mutations in the DJ-1 gene associated with autosomal recessive early-onset Parkinsonism. Science 2003; 299: 256-259. (Pubitemid 36131051)
-
(2003)
Science
, vol.299
, Issue.5604
, pp. 256-259
-
-
Bonifati, V.1
Rizzu, P.2
Van Baren, M.J.3
Schaap, O.4
Breedveld, G.J.5
Krieger, E.6
Dekker, M.C.J.7
Squitieri, F.8
Ibanez, P.9
Joosse, M.10
Van Dongen, J.W.11
Vanacore, N.12
Van Swieten, J.C.13
Brice, A.14
Meco, G.15
Van Duijn, C.M.16
Oostra, B.A.17
Heutink, P.18
-
8
-
-
0037439542
-
Major loci influencing serum triglyceride levels on 2q14 and 9p21 localized by homozygosity-by-descent mapping in a large Hutterite pedigree
-
DOI 10.1093/hmg/ddg012
-
Newman DL, Abney M, Dytch H, Parry R, McPeek MS, Ober C: Major loci influencing serum triglyceride levels on 2q14 and 9p21 localized by homozygosity-by-descent mapping in a large Hutterite pedigree. Hum Mol Genet 2003; 12: 137-144. (Pubitemid 36124449)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.2
, pp. 137-144
-
-
Newman, D.L.1
Abney, M.2
Dytch, H.3
Parry, R.4
McPeek, M.S.5
Ober, C.6
-
9
-
-
35448957329
-
Genetic variation in prehistoric Sardinia
-
DOI 10.1007/s00439-007-0403-6
-
Caramelli D, Vernesi C, Sanna S et al: Genetic variation in prehistoric Sardinia. Hum Genet 2007; 122: 327-336. (Pubitemid 47616540)
-
(2007)
Human Genetics
, vol.122
, Issue.3-4
, pp. 327-336
-
-
Caramelli, D.1
Vernesi, C.2
Sanna, S.3
Sampietro, L.4
Lari, M.5
Castri, L.6
Vona, G.7
Floris, R.8
Francalacci, P.9
Tykot, R.10
Casoli, A.11
Bertranpetit, J.12
Lalueza-Fox, C.13
Bertorelle, G.14
Barbujani, G.15
-
10
-
-
79955767066
-
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
-
Chio A, Borghero G, Pugliatti M et al: Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol 2011; 68: 594-598.
-
(2011)
Arch Neurol
, vol.68
, pp. 594-598
-
-
Chio, A.1
Borghero, G.2
Pugliatti, M.3
-
11
-
-
33646375453
-
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
-
Service S, DeYoung J, Karayiorgou M et al: Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet 2006; 38: 556-560.
-
(2006)
Nat Genet
, vol.38
, pp. 556-560
-
-
Service, S.1
Deyoung, J.2
Karayiorgou, M.3
-
12
-
-
0032835347
-
Molecular characterization of Wilson disease in the Sardinian population - Evidence of a founder effect
-
DOI 10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9
-
Loudianos G, Dessi V, Lovicu M et al: Molecular characterization of Wilson disease in the Sardinian population - Evidence of a founder effect. Hum Mutation 1999; 14: 294-303. (Pubitemid 29480313)
-
(1999)
Human Mutation
, vol.14
, Issue.4
, pp. 294-303
-
-
Loudianos, G.1
Dessi, V.2
Lovicu, M.3
Angius, A.4
Figus, A.5
Lilliu, F.6
De Virgiliis, S.7
Nurchi, A.M.8
Deplano, A.9
Moi, P.10
Pirastu, M.11
Cao, A.12
-
13
-
-
0026556474
-
Molecular characterization of beta-thalassemia in the Sardinian population
-
Rosatelli MC, Dozy A, Faa V et al: Molecular characterization of beta-thalassemia in the Sardinian population. Am J Hum Genet 1992; 50: 422-426.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 422-426
-
-
Rosatelli, M.C.1
Dozy, A.2
Faa, V.3
-
14
-
-
77952884985
-
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
-
Sanna S, Pitzalis M, Zoledziewska M et al: Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat Genet 2010; 42: 495-497.
-
(2010)
Nat Genet
, vol.42
, pp. 495-497
-
-
Sanna, S.1
Pitzalis, M.2
Zoledziewska, M.3
-
15
-
-
38949113705
-
Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: Inference for association scans
-
Contu D, Morelli L, Santoni F, Foster JW, Francalacci P, Cucca F: Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans. PLoS One 2008; 3: e1430.
-
(2008)
PLoS One
, vol.3
-
-
Contu, D.1
Morelli, L.2
Santoni, F.3
Foster, J.W.4
Francalacci, P.5
Cucca, F.6
-
16
-
-
84864287131
-
High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis
-
Pistis G, Piras I, Pirastu N et al: High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis. PLoS One 2009; 4: e4654.
-
(2009)
PLoS One
, vol.4
-
-
Pistis, G.1
Piras, I.2
Pirastu, N.3
-
17
-
-
0034634349
-
The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: A y chromosome perspective
-
Semino O, Passarino G, Oefner PJ et al: The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science 2000; 290: 1155-1159.
-
(2000)
Science
, vol.290
, pp. 1155-1159
-
-
Semino, O.1
Passarino, G.2
Oefner, P.J.3
-
18
-
-
33645775067
-
An utter refutation of the /'Fundamental Theorem of the HapMap/'
-
Terwilliger JD, Hiekkalinna T: An utter refutation of the /'Fundamental Theorem of the HapMap/'. Eur J Hum Genet 2006; 14: 426-437.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 426-437
-
-
Terwilliger, J.D.1
Hiekkalinna, T.2
-
19
-
-
0038120883
-
Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability
-
DOI 10.1002/ajpa.10265
-
Francalacci P, Morelli L, Underhill PA et al: Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability. Am J Phys Anthropol 2003; 121: 270-279. (Pubitemid 36705913)
-
(2003)
American Journal of Physical Anthropology
, vol.121
, Issue.3
, pp. 270-279
-
-
Francalacci, P.1
Morelli, L.2
Underhill, P.A.3
Lillie, A.S.4
Passarino, G.5
Useli, A.6
Madeddu, R.7
Paoli, G.8
Tofanelli, S.9
Calo, C.M.10
Ghiani, M.E.11
Varesi, L.12
Memmi, M.13
Vona, G.14
Lin, A.A.15
Oefner, P.16
Cavalli-Sforza, L.L.17
-
20
-
-
85007110786
-
Arlequin (version 3.0): An integrated software package for population genetics data analysis
-
Excoffier L, Laval G, Schneider S: Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform 2007; 1: 47-50.
-
(2007)
Evol Bioinform
, vol.1
, pp. 47-50
-
-
Excoffier, L.1
Laval, G.2
Schneider, S.3
-
21
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
DOI 10.1086/519795
-
Purcell S, Neale B, Todd-Brown K et al: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575. (Pubitemid 47330214)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.3
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.R.5
Bender, D.6
Maller, J.7
Sklar, P.8
De Bakker, P.I.W.9
Daly, M.J.10
Sham, P.C.11
-
23
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
DOI 10.1126/science.1069424
-
Gabriel SB, Schaffner SF, Nguyen H et al: The structure of haplotype blocks in the human genome. Science 2002; 296: 2225-2229. (Pubitemid 34680308)
-
(2002)
Science
, vol.296
, Issue.5576
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
Moore, J.M.4
Roy, J.5
Blumenstiel, B.6
Higgins, J.7
DeFelice, M.8
Lochner, A.9
Faggart, M.10
Liu-Cordero, S.N.11
Rotimi, C.12
Adeyemo, A.13
Cooper, R.14
Ward, R.15
Lander, E.S.16
Daly, M.J.17
Altshuler, D.18
-
24
-
-
66049132908
-
Global distribution of genomic diversity underscores rich complex history of continental human populations
-
Auton A, Bryc K, Boyko AR et al: Global distribution of genomic diversity underscores rich complex history of continental human populations, 2009. Genome Res 19: 795-803.
-
(2009)
Genome Res
, vol.19
, pp. 795-803
-
-
Auton, A.1
Bryc, K.2
Boyko, A.R.3
-
25
-
-
50949096560
-
The population reference sample, POPRES: A resource for population, disease, and pharmacological genetics research
-
Nelson MR, Bryc K, King KS, et al: The population reference sample, POPRES: a resource for population, disease, and pharmacological genetics research. Am J Hum Genet 2008; 83: 347-358.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 347-358
-
-
Nelson, M.R.1
Bryc, K.2
King, K.S.3
-
26
-
-
55549115654
-
Genes mirror geography within Europe
-
Novembre J, Johnson T, Bryc K et al: Genes mirror geography within Europe. Nature 2008; 456: 98-101.
-
(2008)
Nature
, vol.456
, pp. 98-101
-
-
Novembre, J.1
Johnson, T.2
Bryc, K.3
-
27
-
-
49649084390
-
Correlation between genetic and geographic structure in Europe
-
Lao O, Lu TT, Nothnagel M et al: Correlation between genetic and geographic structure in Europe. Curr Biol 2008; 18: 1241-1248.
-
(2008)
Curr Biol
, vol.18
, pp. 1241-1248
-
-
Lao, O.1
Lu, T.T.2
Nothnagel, M.3
-
28
-
-
0003028629
-
Correlation
-
WH Freeman and Co (ed.). New York
-
Sokal R, Rohlf F: Correlation; in WH Freeman and Co (ed.): Biometry. New York, 2003, Vol 1, pp 555-608.
-
(2003)
Biometry
, vol.1
, pp. 555-608
-
-
Sokal, R.1
Rohlf, F.2
-
29
-
-
3042551041
-
Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe
-
DOI 10.1086/422196
-
Rootsi S, Kivisild T, Benuzzi G et al: Phylogeography of Y-chromosome Haplogroup I reveals distinct domains of prehistoric gene flow in Europe. Am J Hum Genet 2004; 75: 128-137. (Pubitemid 38801909)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.1
, pp. 128-137
-
-
Rootsi, S.1
Magri, C.2
Kivisild, T.3
Benuzzi, G.4
Help, H.5
Bermisheva, M.6
Kutuev, I.7
Barac, L.8
Pericic, M.9
Balanovsky, O.10
Pshenichnov, A.11
Dion, D.12
Grobei, M.13
Zhivotovsky, L.A.14
Battaglia, V.15
Achilli, A.16
Al-Zahery, N.17
Parik, J.18
King, R.19
Cinnioglu, C.20
Khusnutdinova, E.21
Rudan, P.22
Balanovska, E.23
Scheffrahn, W.24
Simonescu, M.25
Brehm, A.26
Goncalves, R.27
Rosa, A.28
Moisan, J.-P.29
Chaventre, A.30
Ferak, V.31
Furedi, S.32
Oefner, P.J.33
Shen, P.34
Beckman, L.35
Mikerezi, I.36
Terzic, R.37
Primorac, D.38
Cambon-Thomsen, A.39
Krumina, A.40
Torroni, A.41
Underhill, P.A.42
Santachiara-Benerecetti, A.S.43
Villems, R.44
Semino, O.45
more..
-
30
-
-
6444233348
-
Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: Implications for population demography
-
DOI 10.1038/sj.ejhg.5201225
-
Flores C, Maca-Meyer N, Gonzalez AM et al: Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography. Eur J Hum Genet 2004; 12: 855-863. (Pubitemid 39406071)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.10
, pp. 855-863
-
-
Flores, C.1
Maca-Meyer, N.2
Gonzalez, A.M.3
Oefner, P.J.4
Shen, P.5
Perez, J.A.6
Rojas, A.7
Larruga, J.M.8
Underhill, P.A.9
-
31
-
-
43149087535
-
New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree
-
DOI 10.1101/gr.7172008
-
Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF: New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res 2008; 18: 830-838. (Pubitemid 351645073)
-
(2008)
Genome Research
, vol.18
, Issue.5
, pp. 830-838
-
-
Karafet, T.M.1
Mendez, F.L.2
Meilerman, M.B.3
Underhill, P.A.4
Zegura, S.L.5
Hammer, M.F.6
-
32
-
-
57649188638
-
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the y chromosome
-
Di Gaetano C, Cerutti N, Crobu F, et al: Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome. Eur J Hum Genet 2009; 17: 91-99.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 91-99
-
-
Di Gaetano, C.1
Cerutti, N.2
Crobu, F.3
-
33
-
-
66749151442
-
Mitochondrial haplogroup U5b3: A distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians
-
Pala M, Achilli A, Olivieri A et al: Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians. Am J Hum Genet 2009; 84: 814-821.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 814-821
-
-
Pala, M.1
Achilli, A.2
Olivieri, A.3
-
34
-
-
0842264740
-
Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis
-
DOI 10.1007/s00439-003-1008-3
-
Fraumene C, Petretto E, Angius A, Pirastu M: Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis. Hum Genet 2003; 114: 1-10. (Pubitemid 38165530)
-
(2003)
Human Genetics
, vol.114
, Issue.1
, pp. 1-10
-
-
Fraumene, C.1
Petretto, E.2
Angius, A.3
Pirastu, M.4
-
35
-
-
0033928384
-
MtDNA haplogroups and frequency patterns in Europe [1]
-
DOI 10.1086/302789
-
Torroni A, Richards M, Macaulay V et al: mtDNA haplogroups and frequency patterns in Europe. Am J Hum Genet 2000; 66: 1173-1177. (Pubitemid 30470518)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.3
, pp. 1173-1177
-
-
Torroni, A.1
Richards, M.2
Macaulay, V.3
Forster, P.4
Villems, R.5
Norby, S.6
Savontaus, M.-L.7
Huoponen, K.8
Scozzari, R.9
Bandelt, H.-J.10
Barbujani, G.11
-
36
-
-
77953811255
-
New approaches to population stratification in genome-wide association studies
-
Price AL, Zaitlen NA, Reich D, Patterson N: New approaches to population stratification in genome-wide association studies. Nat Rev Genet 2010; 11: 459-463.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 459-463
-
-
Price, A.L.1
Zaitlen, N.A.2
Reich, D.3
Patterson, N.4
-
37
-
-
50949096560
-
The population reference sample, POPRES: A resource for population, disease, and pharmacological genetics research
-
Nelson MR, Bryc K, King KS et al: The population reference sample, POPRES: a resource for population, disease, and pharmacological genetics research. Am J Hum Genet 2008; 83: 347-358.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 347-358
-
-
Nelson, M.R.1
Bryc, K.2
King, K.S.3
-
38
-
-
0037990109
-
Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: Implications for disease pathogenesis
-
DOI 10.1002/art.10948
-
Fiorillo MT, Cauli A, Carcassi C et al: Two distinctive HLA haplotypes harbor the B27 alleles negatively or positively associated with ankylosing spondylitis in Sardinia: implications for disease pathogenesis. Arthritis Rheumatism 2003; 48: 1385-1389. (Pubitemid 36554537)
-
(2003)
Arthritis and Rheumatism
, vol.48
, Issue.5
, pp. 1385-1389
-
-
Fiorillo, M.T.1
Cauli, A.2
Carcassi, C.3
Bitti, P.P.4
Vacca, A.5
Passiu, G.6
Bettosini, F.7
Mathieu, A.8
Sorrentino, R.9
-
39
-
-
67349166489
-
Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations
-
Pardo L, Bochdanovits Z, de Geus E et al: Global similarity with local differences in linkage disequilibrium between the Dutch and HapMap-CEU populations. Eur J Hum Genet 2009; 17: 802-810.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 802-810
-
-
Pardo, L.1
Bochdanovits, Z.2
De Geus, E.3
-
40
-
-
37248998792
-
New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East
-
DOI 10.1038/sj.ejhg.5201906, PII 5201906
-
Thomas MG, Barnes I, Weale ME et al: New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East. Eur J Hum Genet 2008; 16: 124-134. (Pubitemid 350269246)
-
(2008)
European Journal of Human Genetics
, vol.16
, Issue.1
, pp. 124-134
-
-
Thomas, M.G.1
Barnes, I.2
Weale, M.E.3
Jones, A.L.4
Forster, P.5
Bradman, N.6
Pramstaller, P.P.7
|