-
1
-
-
0023244033
-
Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17
-
Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Baty B, Kivlin J, Willard H, Waye JS, Greig G, Leinwand L, Nakamura Y, O'Connell P, LeppertM, Lalouel J-M, White R, Skolnick M (1987): Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236(4805):1100-1102.
-
(1987)
Science
, vol.236
, Issue.4805
, pp. 1100-1102
-
-
Barker, D.1
Wright, E.2
Nguyen, K.3
Cannon, L.4
Fain, P.5
Goldgar, D.6
Bishop, D.T.7
Carey, J.8
Baty, B.9
Kivlin, J.10
Willard, H.11
Waye, J.S.12
Greig, G.13
Leinwand, L.14
Nakamura, Y.15
O'Connell, P.16
Leppert, M.17
Lalouel, J.-M.18
White, R.19
Skolnick, M.20
more..
-
2
-
-
0000287065
-
Zur grundlegung der chromosomentheorie der vererbung beim menschen
-
Bernstein F (1931): Zur grundlegung der chromosomentheorie der vererbung beim menschen. Z Abst Vererb 57:113-138.
-
(1931)
Z Abst Vererb
, vol.57
, pp. 113-138
-
-
Bernstein, F.1
-
3
-
-
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 33(Suppl): 228-237.
-
(2003)
Nat Genet
, vol.33
, Issue.SUPPL
, pp. 228-237
-
-
Botstein, D.1
Risch, N.2
-
4
-
-
0019302053
-
Construction of a genetic linkage map in man using restriction fragment length polymorphisms
-
Botstein D, White RL, Skolnick M, Davis RW (1980): Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32(3):314-331.
-
(1980)
Am J Hum Genet
, vol.32
, Issue.3
, pp. 314-331
-
-
Botstein, D.1
White, R.L.2
Skolnick, M.3
Davis, R.W.4
-
5
-
-
0015183542
-
A general model for the genetic analysis of pedigree data
-
Elston RC, Stewart J (1971): A general model for the genetic analysis of pedigree data. Hum Hered 21:523-542.
-
(1971)
Hum Hered
, vol.21
, pp. 523-542
-
-
Elston, R.C.1
Stewart, J.2
-
6
-
-
0002810251
-
The detection of linkage with dominant abnormalities
-
Fisher, RA (1935a): The detection of linkage with dominant abnormalities. Ann Eugen 6:187-201.
-
(1935)
Ann Eugen
, vol.6
, pp. 187-201
-
-
Fisher, R.A.1
-
7
-
-
0042262709
-
The detection of linkage with recessive abnormalities
-
Fisher, RA (1935b): The detection of linkage with recessive abnormalities. Ann Eugen 6: 339-351.
-
(1935)
Ann Eugen
, vol.6
, pp. 339-351
-
-
Fisher, R.A.1
-
8
-
-
0000971397
-
The chromosomes of man
-
Ford CE, Hamerton JL (1956): The chromosomes of man. Nature 178 (4541):1020-1023.
-
(1956)
Nature
, vol.178
, Issue.4541
, pp. 1020-1023
-
-
Ford, C.E.1
Hamerton, J.L.2
-
9
-
-
0344746327
-
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
-
Goate A, Chartier-HarlinMC,Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, Mant R, Newton P, Rooke K, Roques P, Talbot C, Pericak-Vance MA, Roses A, Williamson R, Rossor M, Owen M, Hardy J (1991): Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 33:53-56.
-
(1991)
Nature
, vol.33
, pp. 53-56
-
-
Goate, A.1
Chartier-Harlin, M.C.2
Mullan, M.3
Brown, J.4
Crawford, F.5
Fidani, L.6
Giuffra, L.7
Haynes, A.8
Irving, N.9
James, L.10
Mant, R.11
Newton, P.12
Rooke, K.13
Roques, P.14
Talbot, C.15
Pericak-Vance, M.A.16
Roses, A.17
Williamson, R.18
Rossor, M.19
Owen, M.20
Hardy, J.21
more..
-
10
-
-
0021028244
-
A polymorphic DNA marker genetically linked to Huntington's disease
-
Gusella JF, Wexler NS, Conneally MP, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sajaguchi AY, Young AB, Shoulson I, Bonilla E, Martin JB (1983): A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306(5940):234-238.
-
(1983)
Nature
, vol.306
, Issue.5940
, pp. 234-238
-
-
Gusella, J.F.1
Wexler, N.S.2
Conneally, M.P.3
Naylor, S.L.4
Anderson, M.A.5
Tanzi, R.E.6
Watkins, P.C.7
Ottina, K.8
Wallace, M.R.9
Sajaguchi, A.Y.10
Young, A.B.11
Shoulson, I.12
Bonilla, E.13
Martin, J.B.14
-
11
-
-
78651020237
-
A new estimate of the linkage between the genes for color blindness and hemophilia in man
-
Haldane JBS, Smith CAB (1947): A new estimate of the linkage between the genes for color blindness and hemophilia in man. Ann Eugen 14:10-31.
-
(1947)
Ann Eugen
, vol.14
, pp. 10-31
-
-
Haldane, J.B.S.1
Smith, C.A.B.2
-
12
-
-
0025066941
-
More powerful procedures for multiple significance testing
-
Hochberg Y, Benjamini Y (1990): More powerful procedures for multiple significance testing. Stat Med 9(7):811-818.
-
(1990)
Stat Med
, vol.9
, Issue.7
, pp. 811-818
-
-
Hochberg, Y.1
Benjamini, Y.2
-
13
-
-
3042548992
-
Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: Comparison with microsatellites
-
John S, Shephard N, Liu G, Zeggini E, Cao M, Chen W, Vasavda N, Mills T, Barton A, Hinks A, Eyre S, Jones KW, Ollier W, Silman A, Gibson N, Worthington J, Kennedy GC (2004): Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: Comparison with microsatellites. Am J Hum Genet 75(1):54-64.
-
(2004)
Am J Hum Genet
, vol.75
, Issue.1
, pp. 54-64
-
-
John, S.1
Shephard, N.2
Liu, G.3
Zeggini, E.4
Cao, M.5
Chen, W.6
Vasavda, N.7
Mills, T.8
Barton, A.9
Hinks, A.10
Eyre, S.11
Jones, K.W.12
Ollier, W.13
Silman, A.14
Gibson, N.15
Worthington, J.16
Kennedy, G.C.17
-
14
-
-
18544381909
-
A high-resolution recombination map of the human genome
-
Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palsson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K (2002): A high-resolution recombination map of the human genome. Nat Genet 31(3):241-247.
-
(2002)
Nat Genet
, vol.31
, Issue.3
, pp. 241-247
-
-
Kong, A.1
Gudbjartsson, D.F.2
Sainz, J.3
Jonsdottir, G.M.4
Gudjonsson, S.A.5
Richardsson, B.6
Sigurdardottir, S.7
Barnard, J.8
Hallbeck, B.9
Masson, G.10
Shlien, A.11
Palsson, S.T.12
Frigge, M.L.13
Thorgeirsson, T.E.14
Gulcher, J.R.15
Stefansson, K.16
-
15
-
-
0016732662
-
Extension to pedigree analysis. I. Likelihood calculations for simple and complex pedigrees
-
Lange K, Elston RC (1975): Extension to pedigree analysis. I. Likelihood calculations for simple and complex pedigrees. Hum Hered 25:95-105.
-
(1975)
Hum Hered
, vol.25
, pp. 95-105
-
-
Lange, K.1
Elston, R.C.2
-
16
-
-
3042656756
-
Case-control association studies with matching and genomic controlling
-
Lee WC (2004): Case-control association studies with matching and genomic controlling. Genet Epidemiol 27(1):1-13.
-
(2004)
Genet Epidemiol
, vol.27
, Issue.1
, pp. 1-13
-
-
Lee, W.C.1
-
17
-
-
0029087026
-
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
-
Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu YH, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE (1995): Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269:973-977.
-
(1995)
Science
, vol.269
, pp. 973-977
-
-
Levy-Lahad, E.1
Wasco, W.2
Poorkaj, P.3
Romano, D.M.4
Oshima, J.5
Pettingell, W.H.6
Yu, C.E.7
Jondro, P.D.8
Schmidt, S.D.9
Wang, K.10
Crowley, A.C.11
Fu, Y.H.12
Guenette, S.Y.13
Galas, D.14
Nemens, E.15
Wijsman, E.M.16
Bird, T.D.17
Schellenberg, G.D.18
Tanzi, R.E.19
-
18
-
-
0021271971
-
Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of the department of health and human services task force on Alzheimer's disease
-
McKhann G, Drachman G, Folstein M (1984): Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of the department of health and human services task force on Alzheimer's disease. Neurology 34:939-944.
-
(1984)
Neurology
, vol.34
, pp. 939-944
-
-
McKhann, G.1
Drachman, G.2
Folstein, M.3
-
19
-
-
0043048571
-
Sequential tests for the detection of linkage
-
Morton NE (1955): Sequential tests for the detection of linkage. Am J Hum Genet 7:277-318.
-
(1955)
Am J Hum Genet
, vol.7
, pp. 277-318
-
-
Morton, N.E.1
-
20
-
-
0016302483
-
Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies
-
Ott J (1974): Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588-597.
-
(1974)
Am J Hum Genet
, vol.26
, pp. 588-597
-
-
Ott, J.1
-
21
-
-
0029741063
-
The future of genetic studies of complex human disorders
-
Risch N, Merikangas K (1996): The future of genetic studies of complex human disorders. Science 273(5281):1516-1517.
-
(1996)
Science
, vol.273
, Issue.5281
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
22
-
-
0029101491
-
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
-
Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, Mar L, Sorbi S, Nacmias B, Piacentini S, Amaducci L, Chumakov I, Cohen D, Lannfelt L, Fraser PE, Rommens JM, St George-Hyslop PH (1995): Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376(6543):775-778.
-
(1995)
Nature
, vol.376
, Issue.6543
, pp. 775-778
-
-
Rogaev, E.I.1
Sherrington, R.2
Rogaeva, E.A.3
Levesque, G.4
Ikeda, M.5
Liang, Y.6
Chi, H.7
Lin, C.8
Holman, K.9
Tsuda, T.10
Mar, L.11
Sorbi, S.12
Nacmias, B.13
Piacentini, S.14
Amaducci, L.15
Chumakov, I.16
Cohen, D.17
Lannfelt, L.18
Fraser, P.E.19
Rommens, J.M.20
St George-Hyslop, P.H.21
more..
-
23
-
-
0023204436
-
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22
-
Rouleau GA, Wertelecki W, Haines JL, Hobbs WJ, Trofatter JA, Seizinger BR, Martuza RL, Superneau DW, Conneally PM, Gusella JF (1987): Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature 329(6136):246-248.
-
(1987)
Nature
, vol.329
, Issue.6136
, pp. 246-248
-
-
Rouleau, G.A.1
Wertelecki, W.2
Haines, J.L.3
Hobbs, W.J.4
Trofatter, J.A.5
Seizinger, B.R.6
Martuza, R.L.7
Superneau, D.W.8
Conneally, P.M.9
Gusella, J.F.10
-
24
-
-
0030007661
-
Evidence for genetic basis of multiple sclerosis
-
Sadovnick AD, Ebers GC, Dyment DA, Risch NJ (1996): Evidence for genetic basis of multiple sclerosis. Lancet 347(1728):1730.
-
(1996)
Lancet
, vol.347
, Issue.1728
, pp. 1730
-
-
Sadovnick, A.D.1
Ebers, G.C.2
Dyment, D.A.3
Risch, N.J.4
-
25
-
-
0029004341
-
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
-
Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin J-F, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, DaSilva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Rommens JM, St George-Hyslop PH (1995): Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375:754-760.
-
(1995)
Nature
, vol.375
, pp. 754-760
-
-
Sherrington, R.1
Rogaev, E.I.2
Liang, Y.3
Rogaeva, E.A.4
Levesque, G.5
Ikeda, M.6
Chi, H.7
Lin, C.8
Li, G.9
Holman, K.10
Tsuda, T.11
Mar, L.12
Foncin, J.-F.13
Bruni, A.C.14
Montesi, M.P.15
Sorbi, S.16
Rainero, I.17
Pinessi, L.18
Nee, L.19
Chumakov, I.20
Pollen, D.21
Brookes, A.22
Sanseau, P.23
Polinsky, R.J.24
Wasco, W.25
DaSilva, H.A.R.26
Haines, J.L.27
Pericak-Vance, M.A.28
Tanzi, R.E.29
Roses, A.D.30
Rommens, J.M.31
St George-Hyslop, P.H.32
more..
-
26
-
-
84981834288
-
The chromosome number of man
-
Tjio JH, Levan A (1956): The chromosome number of man. Hereditas 42:1-6.
-
(1956)
Hereditas
, vol.42
, pp. 1-6
-
-
Tjio, J.H.1
Levan, A.2
-
27
-
-
0022350960
-
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
-
Tsui LC, Buchwald M, Barker D, Braman JC, Knowlton R, Schumm JW, Eiberg H, Mohr J, Kennedy D, Plavsi N, Zsiga M, Markiewicz D, Akots G, Brown V, Helms C, Gravius T, Parker C, Rediker K, Donis-Keller H (1985): Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230(4729):1054-1057.
-
(1985)
Science
, vol.230
, Issue.4729
, pp. 1054-1057
-
-
Tsui, L.C.1
Buchwald, M.2
Barker, D.3
Braman, J.C.4
Knowlton, R.5
Schumm, J.W.6
Eiberg, H.7
Mohr, J.8
Kennedy, D.9
Plavsi, N.10
Zsiga, M.11
Markiewicz, D.12
Akots, G.13
Brown, V.14
Helms, C.15
Gravius, T.16
Parker, C.17
Rediker, K.18
Donis-Keller, H.19
-
28
-
-
0003503387
-
Sequential Analysis
-
New York: John Wiley & Sons
-
Wald A (1947): Sequential Analysis. New York: John Wiley & Sons.
-
(1947)
-
-
Wald, A.1
-
29
-
-
0038497542
-
Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid
-
Watson JD, Crick FH (1953): Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature 171(4356):737-738.
-
(1953)
Nature
, vol.171
, Issue.4356
, pp. 737-738
-
-
Watson, J.D.1
Crick, F.H.2
|