-
1
-
-
0029095603
-
Factor VIII gene inversions in severe hemophilia: Results of an international consortium study
-
ANTONARAKIS, J. P., J. P. ROSSITER, M. YOUNG, J. HORST et al., 1995 Factor VIII gene inversions in severe hemophilia: results of an international consortium study. Blood 86: 2206-2212.
-
(1995)
Blood
, vol.86
, pp. 2206-2212
-
-
Antonarakis, J.P.1
Rossiter, J.P.2
Young, M.3
Horst, J.4
-
2
-
-
0029865410
-
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies
-
BECKER, J., R. SCHWAAB, A. MÖLLER-TAUBE, U. SCHWAAB, W. SCHMIDT et al., 1996 Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am. J. Hum. Genet. 58: 657-670.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 657-670
-
-
Becker, J.1
Schwaab, R.2
Möller-Taube, A.3
Schwaab, U.4
Schmidt, W.5
-
4
-
-
0004599465
-
Problems of ascertainment in the analysis of family data
-
Pub. No. 1163, edited by J. V. NEEL, M. W. SHAW and W. J. SCHULL. U.S. Public Health Service, Washington, DC
-
CROW, J. F., 1965 Problems of ascertainment in the analysis of family data, pp. 23-24 in Genetics and the Epidemiology of Chronic Diseases, Pub. No. 1163, edited by J. V. NEEL, M. W. SHAW and W. J. SCHULL. U.S. Public Health Service, Washington, DC.
-
(1965)
Genetics and the Epidemiology of Chronic Diseases
, pp. 23-24
-
-
Crow, J.F.1
-
5
-
-
0024040246
-
Eighty years ago: The beginnings of population genetics
-
CROW, J. F., 1988 Eighty years ago: the beginnings of population genetics. Genetics 119: 473-476.
-
(1988)
Genetics
, vol.119
, pp. 473-476
-
-
Crow, J.F.1
-
6
-
-
0030872714
-
The high spontaneous mutation rate: Is it a health risk?
-
CROW, J. F., 1997 The high spontaneous mutation rate: Is it a health risk? Proc. Natl. Acad. Sci. USA 94: 8380-8386.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 8380-8386
-
-
Crow, J.F.1
-
7
-
-
0033141615
-
Gustave Malécot, 1911-1998, population genetics founding father
-
EPPERSON, B. K., 1999 Gustave Malécot, 1911-1998, population genetics founding father. Genetics 152: 477-484.
-
(1999)
Genetics
, vol.152
, pp. 477-484
-
-
Epperson, B.K.1
-
8
-
-
0028256298
-
On the origin of deletions and point mutations in Duchenne muscular dystrophy: Most deletions arise in oogenesis and most point mutations result from events in spermatogenesis
-
GRIMM, T., G. MENG, S. LEICHTI-GALLATI, T. ETTECKEN, C. R. MÜLLER et al., 1994 On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. J. Med. Genet. 31: 183-186.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 183-186
-
-
Grimm, T.1
Meng, G.2
Leichti-Gallati, S.3
Ettecken, T.4
Müller, C.R.5
-
9
-
-
0000581643
-
The mutation rate of the gene for hemophilia, and its segregation ratios in males and females
-
HALDANE, J. B. S., 1947 The mutation rate of the gene for hemophilia, and its segregation ratios in males and females. Ann. Eugen. 13: 262-271.
-
(1947)
Ann. Eugen.
, vol.13
, pp. 262-271
-
-
Haldane, J.B.S.1
-
10
-
-
37049251476
-
Mendelian proportions in a mixed population
-
HARDY, G. H., 1908 Mendelian proportions in a mixed population. Science 28: 49-50.
-
(1908)
Science
, vol.28
, pp. 49-50
-
-
Hardy, G.H.1
-
11
-
-
0004233301
-
-
Foreword by C. P. SNOW. Cambridge University Press, Cambridge
-
HARDY, G. H., 1967 A Mathematician's Apology, Foreword by C. P. SNOW. Cambridge University Press, Cambridge.
-
(1967)
A Mathematician's Apology
-
-
Hardy, G.H.1
-
12
-
-
0345120372
-
-
Van Nostrand Reinhold, New York
-
HILL, W. G., (Editor), 1984 Quantitative Genetics, Part I. Van Nostrand Reinhold, New York.
-
(1984)
Quantitative Genetics
, Issue.1 PART
-
-
Hill, W.G.1
-
13
-
-
0029969028
-
Sex differences in the mutational rate and mutational mechanism in the NF gene in neurofibromatosis type 1 patients
-
LAZARO, C., A. GAONA, P. AINSWORTH, R. TENCONI, D. VIDAUD et al., 1996 Sex differences in the mutational rate and mutational mechanism in the NF gene in neurofibromatosis type 1 patients. Hum. Genet. 98: 696-699.
-
(1996)
Hum. Genet.
, vol.98
, pp. 696-699
-
-
Lazaro, C.1
Gaona, A.2
Ainsworth, P.3
Tenconi, R.4
Vidaud, D.5
-
14
-
-
0031788688
-
Lionel Sharples Penrose, 1898-1972: A personal memoir in celebration of the centenary of his birth
-
LAXOVA, R., 1998 Lionel Sharples Penrose, 1898-1972: a personal memoir in celebration of the centenary of his birth. Genetics 150: 1333-1340.
-
(1998)
Genetics
, vol.150
, pp. 1333-1340
-
-
Laxova, R.1
-
15
-
-
0027936939
-
Paternal age and the risk of congenital heart defects
-
OLSHAN, A. F., P. G. SCHNITZER and P. A. BAIRD, 1994 Paternal age and the risk of congenital heart defects. Teratology 50: 80-84.
-
(1994)
Teratology
, vol.50
, pp. 80-84
-
-
Olshan, A.F.1
Schnitzer, P.G.2
Baird, P.A.3
-
16
-
-
50449119163
-
Parental age and mutation
-
PENROSE, L. S., 1955 Parental age and mutation. Lancet 2: 312-313.
-
(1955)
Lancet
, vol.2
, pp. 312-313
-
-
Penrose, L.S.1
-
18
-
-
0023201611
-
Spontaneous mutation and parental age in humans
-
RISCH, N., E. W. REICH, M. M. WISHNICK and J. G. MCCARTHY, 1987 Spontaneous mutation and parental age in humans. Am. J. Human Genet. 41: 218-248.
-
(1987)
Am. J. Human Genet.
, vol.41
, pp. 218-248
-
-
Risch, N.1
Reich, E.W.2
Wishnick, M.M.3
McCarthy, J.G.4
-
19
-
-
0012781123
-
The Hardy-Weinberg law
-
STERN, C., 1943 The Hardy-Weinberg law. Science 97: 137-138.
-
(1943)
Science
, vol.97
, pp. 137-138
-
-
Stern, C.1
-
20
-
-
0009582676
-
Wilhelm Weinberg
-
STERN, C., 1962 Wilhelm Weinberg. Genetics 47: 1-5.
-
(1962)
Genetics
, vol.47
, pp. 1-5
-
-
Stern, C.1
-
21
-
-
0000396174
-
The achondroplasia mutation occurs exclusively in the paternally derived fibroblast growth receptor 3 (FGFR3) allele
-
SZABO, J. K, D. J. WILKIN, R. CAMERON, S. HENDERSON, G. BELLUS et al., 1997 The achondroplasia mutation occurs exclusively in the paternally derived fibroblast growth receptor 3 (FGFR3) allele. Am. J. Hum. Genet. 61: A348.
-
(1997)
Am. J. Hum. Genet.
, vol.61
-
-
Szabo, J.K.1
Wilkin, D.J.2
Cameron, R.3
Henderson, S.4
Bellus, G.5
-
22
-
-
0030009791
-
High male:Female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
-
THOMAS, G. H., 1996 High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am. J. Hum. Genet. 58: 1364-1368.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1364-1368
-
-
Thomas, G.H.1
-
23
-
-
0028966029
-
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency
-
TUCHMAN, M., I. MATSUDA, A. MUNNICH, S. MALCOLM, S. STRAUTNIEKS et al., 1995 Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency. Am. J. Med. Genet. 55: 67-70.
-
(1995)
Am. J. Med. Genet.
, vol.55
, pp. 67-70
-
-
Tuchman, M.1
Matsuda, I.2
Munnich, A.3
Malcolm, S.4
Strautnieks, S.5
-
25
-
-
0001319742
-
Über den nachweis der vererbung beim menschen
-
for an English translation, see BOYER 1963
-
WEINBERG, W., 1908 Über den Nachweis der Vererbung beim Menschen. Jahresh. Wuertt. Ver. vaterl. Natkd. 64: 369-382 [for an English translation, see BOYER 1963].
-
(1908)
Jahresh. Wuertt. Ver. Vaterl. Natkd.
, vol.64
, pp. 369-382
-
-
Weinberg, W.1
-
26
-
-
34347174182
-
Über vererbungsgesetze beim menschen I
-
WEINBERG, W., 1909a Über Vererbungsgesetze beim Menschen I. Z. indukt. Abstamm. Vererbungsl. 1: 377-392, 440-460.
-
(1909)
Z. Indukt. Abstamm. Vererbungsl.
, vol.1
, pp. 377-392
-
-
Weinberg, W.1
-
27
-
-
34347189245
-
Über vererbungsgesetze beim menschen II
-
WEINBERG, W., 1909b Über Vererbungsgesetze beim Menschen II. Z. indukt. Abstamm. Vererbungsl. 2: 276-330.
-
(1909)
Z. Indukt. Abstamm. Vererbungsl.
, vol.2
, pp. 276-330
-
-
Weinberg, W.1
-
28
-
-
0343989581
-
Weitere beiträge zur theorie der vererbung
-
for an English translation, see HILL 1984
-
WEINBERG, W., 1910 Weitere Beiträge zur Theorie der Vererbung. Arch. Rassen. Ges. Biol. 7: 35-49 [for an English translation, see HILL 1984].
-
(1910)
Arch. Rassen. Ges. Biol.
, vol.7
, pp. 35-49
-
-
Weinberg, W.1
-
29
-
-
0000086778
-
Sur vererbung des zwergwuchses
-
WEINBERG, W., 1912 Sur Vererbung des Zwergwuchses. Arch. Rassen. Ges. Biol. 9: 710-717.
-
(1912)
Arch. Rassen. Ges. Biol.
, vol.9
, pp. 710-717
-
-
Weinberg, W.1
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