-
1
-
-
77954407332
-
Genomewide association studies and assessment of the risk of disease
-
Manolio TA, (2010) Genomewide association studies and assessment of the risk of disease. N Engl J Med 363: 166-176.
-
(2010)
N Engl J Med
, vol.363
, pp. 166-176
-
-
Manolio, T.A.1
-
3
-
-
65949104586
-
Genomewide association studies and human disease
-
Hardy J, Singleton A, (2009) Genomewide association studies and human disease. N Engl J Med 360: 1759-1768.
-
(2009)
N Engl J Med
, vol.360
, pp. 1759-1768
-
-
Hardy, J.1
Singleton, A.2
-
4
-
-
42349112088
-
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
-
McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, et al. (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9: 356-369.
-
(2008)
Nat Rev Genet
, vol.9
, pp. 356-369
-
-
McCarthy, M.I.1
Abecasis, G.R.2
Cardon, L.R.3
Goldstein, D.B.4
Little, J.5
-
5
-
-
0023239442
-
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D, (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236: 1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
6
-
-
59249092391
-
A systematic approach to mapping recessive disease genes in individuals from outbred populations
-
Hildebrandt F, Heeringa SF, Ruschendorf F, Attanasio M, Nurnberg G, et al. (2009) A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet 5: e1000353.
-
(2009)
PLoS Genet
, vol.5
-
-
Hildebrandt, F.1
Heeringa, S.F.2
Ruschendorf, F.3
Attanasio, M.4
Nurnberg, G.5
-
7
-
-
77950332127
-
High-resolution detection of identity by descent in unrelated individuals
-
Browning SR, Browning BL, (2010) High-resolution detection of identity by descent in unrelated individuals. Am J Hum Genet 86: 526-539.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 526-539
-
-
Browning, S.R.1
Browning, B.L.2
-
8
-
-
33846842330
-
Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis
-
Huqun, Izumi S, Miyazawa H, Ishii K, Uchiyama B, et al. (2007) Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis. Am J Respir Crit Care Med 175: 263-268.
-
(2007)
Am J Respir Crit Care Med
, vol.175
, pp. 263-268
-
-
Huqun1
Izumi, S.2
Miyazawa, H.3
Ishii, K.4
Uchiyama, B.5
-
9
-
-
34250861479
-
Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients
-
Miyazawa H, Kato M, Awata T, Kohda M, Iwasa H, et al. (2007) Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients. Am J Hum Genet 80: 1090-1102.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 1090-1102
-
-
Miyazawa, H.1
Kato, M.2
Awata, T.3
Kohda, M.4
Iwasa, H.5
-
10
-
-
77957924025
-
A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data
-
Huqun, Fukuyama S, Morino H, Miyazawa H, Tanaka T, et al. (2010) A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data. BMC Bioinformatics 11 (Suppl 7): S5.
-
(2010)
BMC Bioinformatics
, vol.11
, Issue.SUPPL. 7
-
-
Huqun1
Fukuyama, S.2
Morino, H.3
Miyazawa, H.4
Tanaka, T.5
-
11
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
Maruyama H, Morino H, Ito H, Izumi Y, Kato H, et al. (2010) Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465: 223-226.
-
(2010)
Nature
, vol.465
, pp. 223-226
-
-
Maruyama, H.1
Morino, H.2
Ito, H.3
Izumi, Y.4
Kato, H.5
-
12
-
-
0028864726
-
Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan
-
Seyama K, Nukiwa T, Souma S, Shimizu K, Kira S, (1995) Alpha 1-antitrypsin-deficient variant Siiyama (Ser53[TCC] to Phe53[TTC]) is prevalent in Japan. Status of alpha 1-antitrypsin deficiency in Japan. Am J Respir Crit Care Med 152: 2119-2126.
-
(1995)
Am J Respir Crit Care Med
, vol.152
, pp. 2119-2126
-
-
Seyama, K.1
Nukiwa, T.2
Souma, S.3
Shimizu, K.4
Kira, S.5
-
13
-
-
0000178021
-
The combination of linkage values, and the calculation of distances between the loci of linked factors
-
Haldane J, (1919) The combination of linkage values, and the calculation of distances between the loci of linked factors. J Genet 8: 299-309.
-
(1919)
J Genet
, vol.8
, pp. 299-309
-
-
Haldane, J.1
-
14
-
-
79952188041
-
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing
-
Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, et al. (2011) Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med 13: 218-229.
-
(2011)
Genet Med
, vol.13
, pp. 218-229
-
-
Berg, J.S.1
Evans, J.P.2
Leigh, M.W.3
Omran, H.4
Bizon, C.5
-
15
-
-
79959237123
-
The discovery of alpha1-antitrypsin and its role in health and disease
-
Janciauskiene SM, Bals R, Koczulla R, Vogelmeier C, Kohnlein T, et al. (2011) The discovery of alpha1-antitrypsin and its role in health and disease. Respir Med 105: 1129-1139.
-
(2011)
Respir Med
, vol.105
, pp. 1129-1139
-
-
Janciauskiene, S.M.1
Bals, R.2
Koczulla, R.3
Vogelmeier, C.4
Kohnlein, T.5
-
16
-
-
79952441604
-
An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea
-
Salvatore D, Buzzetti R, Baldo E, Forneris MP, Lucidi V, et al. (2011) An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea. J Cystic Fibrosis 10: 71-85.
-
(2011)
J Cystic Fibrosis
, vol.10
, pp. 71-85
-
-
Salvatore, D.1
Buzzetti, R.2
Baldo, E.3
Forneris, M.P.4
Lucidi, V.5
-
17
-
-
8544252461
-
Ashkenazi Jewish genetic disorders
-
Charrow J, (2004) Ashkenazi Jewish genetic disorders. Familial Cancer 3: 201-206.
-
(2004)
Familial Cancer
, vol.3
, pp. 201-206
-
-
Charrow, J.1
-
18
-
-
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
-
19
-
-
0028940272
-
Variability of the genetic contribution of Quebec population founders associated to some deleterious genes
-
Heyer E, Tremblay M, (1995) Variability of the genetic contribution of Quebec population founders associated to some deleterious genes. Am J Hum Genet 56: 970-978.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 970-978
-
-
Heyer, E.1
Tremblay, M.2
-
20
-
-
25144485002
-
Population history and its impact on medical genetics in Quebec
-
Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, et al. (2005) Population history and its impact on medical genetics in Quebec. Clin Genet 68: 287-301.
-
(2005)
Clin Genet
, vol.68
, pp. 287-301
-
-
Laberge, A.M.1
Michaud, J.2
Richter, A.3
Lemyre, E.4
Lambert, M.5
-
21
-
-
0027581094
-
Origin and population structure of the Icelanders
-
Williams JT, (1993) Origin and population structure of the Icelanders. Hum Biol 65: 167-191.
-
(1993)
Hum Biol
, vol.65
, pp. 167-191
-
-
Williams, J.T.1
|