-
1
-
-
0008235383
-
The genetics of epiloia
-
Gunther M, Penrose LS: The genetics of epiloia. J Genet 1935;31:413-430.
-
(1935)
J Genet
, vol.31
, pp. 413-430
-
-
Gunther, M.1
Penrose, L.S.2
-
3
-
-
13844300807
-
The frequency of mutation and the incidence of heredity traits in man
-
William and Wilkins Company, Baltimore
-
Danforth CH: The frequency of mutation and the incidence of heredity traits in man; in Eugenics, Genetics and the Family Vol. 1, Second International Congress of Eugenics. William and Wilkins Company, Baltimore, 1923, pp 120-128.
-
(1923)
Eugenics, Genetics and the Family Vol. 1, Second International Congress of Eugenics
, vol.1
, pp. 120-128
-
-
Danforth, C.H.1
-
5
-
-
77951509701
-
The rate of spontaneous mutation of a human gene
-
Haldane JBS: The rate of spontaneous mutation of a human gene. Genetics 1935;31:317-326.
-
(1935)
Genetics
, vol.31
, pp. 317-326
-
-
Haldane, J.B.S.1
-
6
-
-
0000581643
-
The mutation rate of the gene for haemophilia, and its segregation ratios in males and females
-
Haldane JBS: The mutation rate of the gene for haemophilia, and its segregation ratios in males and females. Annual Eugenics 1947;13: 262-271.
-
(1947)
Annual Eugenics
, vol.13
, pp. 262-271
-
-
Haldane, J.B.S.1
-
7
-
-
0018232002
-
Indirect estimates of mutation rates in tribal Amerindians
-
USA
-
Neel JV, Rothman ED: Indirect estimates of mutation rates in tribal Amerindians. Proc Natl Acad Sci USA 1978;75:5585-5588.
-
(1978)
Proc Natl Acad Sci
, vol.75
, pp. 5585-5588
-
-
Neel, J.V.1
Rothman, E.D.2
-
8
-
-
0014595262
-
The average number of generations until extinction of an individual mutant gene in a finite population
-
Kimura M, Ohta T: The average number of generations until extinction of an individual mutant gene in a finite population. Genetics 1969;63:701-709.
-
(1969)
Genetics
, vol.63
, pp. 701-709
-
-
Kimura, M.1
Ohta, T.2
-
9
-
-
1642272082
-
'Private' genetic variance and the frequency of mutation among South American Indians
-
USA
-
Neel JV: 'Private' genetic variance and the frequency of mutation among South American Indians. Proc Natl Acad Sci USA 1973;70:3311-3315.
-
(1973)
Proc Natl Acad Sci
, vol.70
, pp. 3311-3315
-
-
Neel, J.V.1
-
10
-
-
0020665560
-
Frequency of spontaneous and induced 'point' mutations in higher eukaryotes
-
Neel JV: Frequency of spontaneous and induced 'point' mutations in higher eukaryotes. J Hered 1983;74:2-15.
-
(1983)
J Hered
, vol.74
, pp. 2-15
-
-
Neel, J.V.1
-
11
-
-
0021905749
-
Mutation in human population
-
Harris H, Hirschhorn K (eds): Plenum Press, New York
-
Crow JF, Denniston C: Mutation in human population; in Harris H, Hirschhorn K (eds): Advances in Human Genetics Vol. 14. Plenum Press, New York, 1985, pp 59-120.
-
(1985)
Advances in Human Genetics
, vol.14
, pp. 59-120
-
-
Crow, J.F.1
Denniston, C.2
-
13
-
-
84993918993
-
Have premeiotic clusters of mutation been overlooked in evolutionary theory?
-
Woodruff RC, Thompson JN Jr: Have premeiotic clusters of mutation been overlooked in evolutionary theory? J Evol Biol 1992;5:457-464.
-
(1992)
J Evol Biol
, vol.5
, pp. 457-464
-
-
Woodruff, R.C.1
Thompson Jr., J.N.2
-
14
-
-
0029826571
-
Spontaneous mutations recovered as mosaics in the mouse specific-locus test
-
USA
-
Russell LB, Russell WL: Spontaneous mutations recovered as mosaics in the mouse specific-locus test. Proc Natl Acad Sci USA 1996;93:13072-13077.
-
(1996)
Proc Natl Acad Sci
, vol.93
, pp. 13072-13077
-
-
Russell, L.B.1
Russell, W.L.2
-
15
-
-
0030267842
-
Clusters of identical mutation in the evolutionary landscape
-
Woodruff RC, Huai H, Thompson JN Jr: Clusters of identical mutation in the evolutionary landscape. Genetica 1996;98:149-160.
-
(1996)
Genetica
, vol.98
, pp. 149-160
-
-
Woodruff, R.C.1
Huai, H.2
Thompson Jr., J.N.3
-
16
-
-
0345973025
-
Major impacts of gonadal mosaicism on hereditary risk estimation, origin of heredity disease, and evolution
-
Woodruff RC, Thompson JN Jr (eds): Kluwer Academic Press, Dordrecht, The Netherlands
-
Selby PB: Major impacts of gonadal mosaicism on hereditary risk estimation, origin of heredity disease, and evolution; in Woodruff RC, Thompson JN Jr (eds): Mutation and Evolution. Kluwer Academic Press, Dordrecht, The Netherlands, 1998, pp 454-462.
-
(1998)
Mutation and Evolution
, pp. 454-462
-
-
Selby, P.B.1
-
18
-
-
7344259634
-
The developmental basis for germline mosaicism in mouse and Drosophila melanogaster
-
Woodruff RC, Thompson JN Jr (eds): Kluwer Academic Press, Dordrecht, The Netherlands
-
Drost JB, Lee WR: The developmental basis for germline mosaicism in mouse and Drosophila melanogaster; in Woodruff RC, Thompson JN Jr (eds): Mutation and Evolution. Kluwer Academic Press, Dordrecht, The Netherlands, 1998, pp 421-443.
-
(1998)
Mutation and Evolution
, pp. 421-443
-
-
Drost, J.B.1
Lee, W.R.2
-
19
-
-
0032510784
-
Genetic studies at the Atomic Bomb Casualty Commission-Radiation Effects Research Foundation: 1946-1997
-
USA
-
Neel JV: Genetic studies at the Atomic Bomb Casualty Commission-Radiation Effects Research Foundation: 1946-1997. Proc Natl Acad Sci USA 1998;95:5432-5436.
-
(1998)
Proc Natl Acad Sci
, vol.95
, pp. 5432-5436
-
-
Neel, J.V.1
-
21
-
-
0035105980
-
Molecular nature of 11 spontaneous de novo mutations in Drosophila melanogaster
-
Yang HP, Tanikawa AY, Kondrashov AS: Molecular nature of 11 spontaneous de novo mutations in Drosophila melanogaster. Genetics 2001;157:1285-1292.
-
(2001)
Genetics
, vol.157
, pp. 1285-1292
-
-
Yang, H.P.1
Tanikawa, A.Y.2
Kondrashov, A.S.3
-
22
-
-
0037786678
-
Estimating mutation rate: How to count mutations?
-
Fu YX, Huai H: Estimating mutation rate: how to count mutations? Genetics 2003;164: 797-805.
-
(2003)
Genetics
, vol.164
, pp. 797-805
-
-
Fu, Y.X.1
Huai, H.2
-
23
-
-
0042307369
-
Huntington disease expansion mutations in humans can occur before meiosis is completed
-
USA
-
Yoon SR, Dubeau L, Young M, Wexler NS, Arnheim N: Huntington disease expansion mutations in humans can occur before meiosis is completed. Proc Natl Acad Sci USA 2003; 100:8834-8838.
-
(2003)
Proc Natl Acad Sci
, vol.100
, pp. 8834-8838
-
-
Yoon, S.R.1
Dubeau, L.2
Young, M.3
Wexler, N.S.4
Arnheim, N.5
-
25
-
-
0027016289
-
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease
-
Edwards MJ, Wenstrup RJ, Byers PH, Cohn DH: Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. Hum Mutat 1992; 1:47-54.
-
(1992)
Hum Mutat
, vol.1
, pp. 47-54
-
-
Edwards, M.J.1
Wenstrup, R.J.2
Byers, P.H.3
Cohn, D.H.4
-
27
-
-
0002589692
-
Reproductive success in three Kipsigis cohorts
-
Clutton-Brock TH (ed): University of Chicago Press, Chicago
-
Borgerhoff Mulder M: Reproductive success in three Kipsigis cohorts; in Clutton-Brock TH (ed): Reproductive Success. University of Chicago Press, Chicago, 1988, pp 419-435.
-
(1988)
Reproductive Success
, pp. 419-435
-
-
Borgerhoff Mulder, M.1
-
28
-
-
27144459391
-
Human consanguinity effects revisited: Why is the measurable impact of inbreeding so small?
-
Sing CF, Hanis CL (eds): Oxford University Press, New York
-
Neel JV: Human consanguinity effects revisited: Why is the measurable impact of inbreeding so small? In Sing CF, Hanis CL (eds): Genetics of Cellular, Individual, Family, and Population Variability. Oxford University Press, New York, 1993, pp 58-82.
-
(1993)
Genetics of Cellular, Individual, Family, and Population Variability
, pp. 58-82
-
-
Neel, J.V.1
-
29
-
-
53149112709
-
Life-history theory, fertility and reproductive success in humans
-
Strassmann BI, Gillispie B: Life-history theory, fertility and reproductive success in humans. Proc R Soc Lond B 2002;269:553-562.
-
(2002)
Proc R Soc Lond B
, vol.269
, pp. 553-562
-
-
Strassmann, B.I.1
Gillispie, B.2
-
30
-
-
0015119293
-
Demographic structure of a primitive population: A simulation
-
MacCluer JW, Neel JV, Chagnon NA: Demographic structure of a primitive population: A simulation. Am J Phys Anthropol 1971;35: 193-207.
-
(1971)
Am J Phys Anthropol
, vol.35
, pp. 193-207
-
-
MacCluer, J.W.1
Neel, J.V.2
Chagnon, N.A.3
-
32
-
-
0029832730
-
Genetic counseling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism
-
Lund AM, Schwartz M, Skovby F: Genetic counseling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism. Prenat Diagn 1996;16:1032-1038.
-
(1996)
Prenat Diagn
, vol.16
, pp. 1032-1038
-
-
Lund, A.M.1
Schwartz, M.2
Skovby, F.3
-
33
-
-
0032830638
-
Haploin-sufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
-
Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG: Haploin-sufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999;23: 166-175.
-
(1999)
Nat Genet
, vol.23
, pp. 166-175
-
-
Song, W.J.1
Sullivan, M.G.2
Legare, R.D.3
Hutchings, S.4
Tan, X.5
Kufrin, D.6
Ratajczak, J.7
Resende, I.C.8
Haworth, C.9
Hock, R.10
Loh, M.11
Felix, C.12
Roy, D.C.13
Busque, L.14
Kurnit, D.15
Willman, C.16
Gewirtz, A.M.17
Speck, N.A.18
Bushweller, J.H.19
Li, F.P.20
Gardiner, K.21
Poncz, M.22
Maris, J.M.23
Gilliland, D.G.24
more..
-
34
-
-
2442603612
-
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)
-
Fossdal R, Jonasson F, Kristjansdottir GT, Kong A, Stefansson H, Gosh S, Gulcher JR, Stefansson K: A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). Hum Mol Genet 2004;13:975-981.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 975-981
-
-
Fossdal, R.1
Jonasson, F.2
Kristjansdottir, G.T.3
Kong, A.4
Stefansson, H.5
Gosh, S.6
Gulcher, J.R.7
Stefansson, K.8
-
35
-
-
0015404425
-
Dominant ectrodactyly and possible germinal mosaicism
-
David TJ: Dominant ectrodactyly and possible germinal mosaicism. J Med Genet 1972;9:316-320.
-
(1972)
J Med Genet
, vol.9
, pp. 316-320
-
-
David, T.J.1
-
36
-
-
0023754181
-
Somatic mosaicism: Observations related to clinical genetics
-
Hall JG: Somatic mosaicism: Observations related to clinical genetics. Am J Hum Genet 1988;43:355-363.
-
(1988)
Am J Hum Genet
, vol.43
, pp. 355-363
-
-
Hall, J.G.1
-
37
-
-
0024571213
-
Familiarity, recessivity and germline mosaicism
-
Edwards JH: Familiarity, recessivity and germline mosaicism. Ann Hum Genet 1989;53:33-47.
-
(1989)
Ann Hum Genet
, vol.53
, pp. 33-47
-
-
Edwards, J.H.1
-
38
-
-
0027996867
-
The importance of genetic mosaicism in human disease
-
Bernards A, Gusella JF: The importance of genetic mosaicism in human disease. N Engl J Med 1994;331:1447-1449.
-
(1994)
N Engl J Med
, vol.331
, pp. 1447-1449
-
-
Bernards, A.1
Gusella, J.F.2
-
39
-
-
0031946632
-
Germ line mosaicism
-
Zlotogora J: Germ line mosaicism. Hum Genet 1998;102:381-386.
-
(1998)
Hum Genet
, vol.102
, pp. 381-386
-
-
Zlotogora, J.1
-
40
-
-
0005537180
-
-
United Nations, New York
-
UNSCEAR (United Nations Scientific Committee on the Effects of Atomic Radiation): Heredity effects of radiation: Scientific Annex. United Nations, New York, 2001.
-
(2001)
Heredity Effects of Radiation: Scientific Annex
-
-
-
41
-
-
0030884402
-
Clusters of identical new mutations can account for the 'overdispersed' molecular clock
-
Huai H, Woodruff RC: Clusters of identical new mutations can account for the 'overdispersed' molecular clock. Genetics 1997;147:339-348.
-
(1997)
Genetics
, vol.147
, pp. 339-348
-
-
Huai, H.1
Woodruff, R.C.2
-
42
-
-
3242665111
-
Premeiotic clusters of mutation and the cost of natural selection
-
Woodruff RC, Thompson JN Jr, Gu S: Premeiotic clusters of mutation and the cost of natural selection. J Hered 2004;95:277-283.
-
(2004)
J Hered
, vol.95
, pp. 277-283
-
-
Woodruff, R.C.1
Thompson Jr., J.N.2
Gu, S.3
-
43
-
-
0028995999
-
Mutational melt-down in sexual populations
-
Lynch M, Conery J, Büger R: Mutational melt-down in sexual populations. Evolution 1995;49:1067-1080.
-
(1995)
Evolution
, vol.49
, pp. 1067-1080
-
-
Lynch, M.1
Conery, J.2
Büger, R.3
-
44
-
-
0030211375
-
Mutation load and the extinction of large populations
-
Bernards AT: Mutation load and the extinction of large populations. Physica A 1996;230: 156-173.
-
(1996)
Physica A
, vol.230
, pp. 156-173
-
-
Bernards, A.T.1
-
45
-
-
0033031765
-
The Genetic Simulation Library
-
Conery JS, Lynch M: The Genetic Simulation Library. Bioinformatics 1999;15:85-86.
-
(1999)
Bioinformatics
, vol.15
, pp. 85-86
-
-
Conery, J.S.1
Lynch, M.2
|