-
1
-
-
0035319804
-
To err (meiotically) is human: the genesis of human aneuploidy
-
Hassold, T. and Hunt, P. (2001) To err (meiotically) is human: the genesis of human aneuploidy. Nat. Rev. Genet., 2, 280-291.
-
(2001)
Nat. Rev. Genet.
, vol.2
, pp. 280-291
-
-
Hassold, T.1
Hunt, P.2
-
2
-
-
0029818072
-
Human aneuploidy: incidence, origin, and etiology
-
Hassold, T., Abruzzo, M., Adkins, K., Griffin, D., Merrill, M., Millie, E., Saker, D., Shen, J. and Zaragoza, M. (1996) Human aneuploidy: incidence, origin, and etiology. Environ. Mol. Mutagen., 28, 167-175.
-
(1996)
Environ. Mol. Mutagen.
, vol.28
, pp. 167-175
-
-
Hassold, T.1
Abruzzo, M.2
Adkins, K.3
Griffin, D.4
Merrill, M.5
Millie, E.6
Saker, D.7
Shen, J.8
Zaragoza, M.9
-
3
-
-
84961014776
-
Spontaneous abortion risks in Man: data from reproductive histories collected in a medical genetics unit
-
Warburton, D. and Fraser, F.C. (1964) Spontaneous abortion risks in Man: data from reproductive histories collected in a medical genetics unit. Am. J. Hum. Genet., 16, 1-25.
-
(1964)
Am. J. Hum. Genet.
, vol.16
, pp. 1-25
-
-
Warburton, D.1
Fraser, F.C.2
-
4
-
-
0021364806
-
Chromosome variation in perinatal mortality: a survey of 500 cases
-
Angell, R.R., Sandison, A. and Bain, A.D. (1984) Chromosome variation in perinatal mortality: a survey of 500 cases. J. Med. Genet., 21, 39-44.
-
(1984)
J. Med. Genet.
, vol.21
, pp. 39-44
-
-
Angell, R.R.1
Sandison, A.2
Bain, A.D.3
-
5
-
-
0031961737
-
Nondisjunction in the human male
-
Hassold, T.J. (1998) Nondisjunction in the human male. Curr. Top. Dev. Biol., 37, 383-406.
-
(1998)
Curr. Top. Dev. Biol.
, vol.37
, pp. 383-406
-
-
Hassold, T.J.1
-
6
-
-
0026752206
-
The chromosome complement of human gametes
-
Jacobs, P.A. (1992) The chromosome complement of human gametes. Oxf. Rev. Reprod. Biol., 14, 47-72.
-
(1992)
Oxf. Rev. Reprod. Biol.
, vol.14
, pp. 47-72
-
-
Jacobs, P.A.1
-
7
-
-
0031706113
-
Chromosome identification in human oocytes and polar bodies by spectral karyotyping
-
Marquez, C., Cohen, J. and Munne, S. (1998) Chromosome identification in human oocytes and polar bodies by spectral karyotyping. Cytogenet. Cell Genet., 81, 254-258.
-
(1998)
Cytogenet. Cell Genet.
, vol.81
, pp. 254-258
-
-
Marquez, C.1
Cohen, J.2
Munne, S.3
-
8
-
-
78650206677
-
Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006
-
Parker, S.E., Mai, C.T., Canfield, M.A., Rickard, R., Wang, Y., Meyer, R.E., Anderson, P., Mason, C.A., Collins, J.S., Kirby, R.S. et al. (2010) Updated National Birth Prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res. A. Clin. Mol. Teratol., 88, 1008-1016.
-
(2010)
Birth Defects Res. A. Clin. Mol. Teratol.
, vol.88
, pp. 1008-1016
-
-
Parker, S.E.1
Mai, C.T.2
Canfield, M.A.3
Rickard, R.4
Wang, Y.5
Meyer, R.E.6
Anderson, P.7
Mason, C.A.8
Collins, J.S.9
Kirby, R.S.10
-
9
-
-
58849085419
-
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects
-
Allen, E.G., Freeman, S.B., Druschel, C., Hobbs, C.A., O'Leary, L.A., Romitti, P.A., Royle, M.H., Torfs, C.P. and Sherman, S.L. (2009) Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum. Genet., 125, 41-52.
-
(2009)
Hum. Genet.
, vol.125
, pp. 41-52
-
-
Allen, E.G.1
Freeman, S.B.2
Druschel, C.3
Hobbs, C.A.4
O'Leary, L.A.5
Romitti, P.A.6
Royle, M.H.7
Torfs, C.P.8
Sherman, S.L.9
-
10
-
-
33846953609
-
The National Down Syndrome Project: design and implementation
-
Freeman, S.B., Allen, E.G., Oxford-Wright, C.L., Tinker, S.W., Druschel, C., Hobbs, C.A., O'Leary, L.A., Romitti, P.A., Royle, M.H., Torfs, C.P. et al. (2007) The National Down Syndrome Project: design and implementation. Public Health Rep., 122, 62-72.
-
(2007)
Public Health Rep.
, vol.122
, pp. 62-72
-
-
Freeman, S.B.1
Allen, E.G.2
Oxford-Wright, C.L.3
Tinker, S.W.4
Druschel, C.5
Hobbs, C.A.6
O'Leary, L.A.7
Romitti, P.A.8
Royle, M.H.9
Torfs, C.P.10
-
11
-
-
9844220844
-
Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21
-
Lamb, N.E., Feingold, E., Savage, A., Avramopoulos, D., Freeman, S., Gu, Y., Hallberg, A., Hersey, J., Karadima, G., Pettay, D. et al. (1997) Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum. Mol. Genet., 6, 1391-1399.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1391-1399
-
-
Lamb, N.E.1
Feingold, E.2
Savage, A.3
Avramopoulos, D.4
Freeman, S.5
Gu, Y.6
Hallberg, A.7
Hersey, J.8
Karadima, G.9
Pettay, D.10
-
12
-
-
0023236677
-
Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome
-
Warren, A.C., Chakravarti, A., Wong, C., Slaugenhaupt, S.A., Halloran, S.L., Watkins, P.C., Metaxotou, C. and Antonarakis, S.E. (1987) Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science, 237, 652-654.
-
(1987)
Science
, vol.237
, pp. 652-654
-
-
Warren, A.C.1
Chakravarti, A.2
Wong, C.3
Slaugenhaupt, S.A.4
Halloran, S.L.5
Watkins, P.C.6
Metaxotou, C.7
Antonarakis, S.E.8
-
13
-
-
41949097237
-
New insights into human nondisjunction of chromosome 21 in oocytes
-
Oliver, T.R., Feingold, E., Yu, K., Cheung, V., Tinker, S., Yadav-Shah, M., Masse, N. and Sherman, S.L. (2008) New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet., 4, e1000033.
-
(2008)
PLoS Genet
, vol.4
-
-
Oliver, T.R.1
Feingold, E.2
Yu, K.3
Cheung, V.4
Tinker, S.5
Yadav-Shah, M.6
Masse, N.7
Sherman, S.L.8
-
14
-
-
33847216961
-
Polymorphic variation in human meiotic recombination
-
Cheung, V.G., Burdick, J.T., Hirschmann, D. and Morley, M. (2007) Polymorphic variation in human meiotic recombination. Am. J. Hum. Genet., 80, 526-530.
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 526-530
-
-
Cheung, V.G.1
Burdick, J.T.2
Hirschmann, D.3
Morley, M.4
-
15
-
-
70349659703
-
Genetic analysis of variation in human meiotic recombination
-
Chowdhury, R., Bois, P.R., Feingold, E., Sherman, S.L. and Cheung, V.G. (2009) Genetic analysis of variation in human meiotic recombination. PLoS Genet., 5, e1000648.
-
(2009)
PLoS Genet
, vol.5
-
-
Chowdhury, R.1
Bois, P.R.2
Feingold, E.3
Sherman, S.L.4
Cheung, V.G.5
-
16
-
-
18544381909
-
A high-resolution recombination map of the human genome
-
Kong, A., Gudbjartsson, D.F., Sainz, J., Jonsdottir, G.M., Gudjonsson, S.A., Richardsson, B., Sigurdardottir, S., Barnard, J., Hallbeck, B., Masson, G. et al. (2002) A high-resolution recombination map of the human genome. Nat. Genet., 31, 241-247.
-
(2002)
Nat. Genet.
, vol.31
, 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
-
17
-
-
78049354879
-
Fine-scale recombination rate differences between sexes, populations and individuals
-
Kong, A., Thorleifsson, G., Gudbjartsson, D.F., Masson, G., Sigurdsson, A., Jonasdottir, A., Walters, G.B., Gylfason, A., Kristinsson, K.T., Gudjonsson, S.A. et al. (2010) Fine-scale recombination rate differences between sexes, populations and individuals. Nature, 467, 1099-1103.
-
(2010)
Nature
, vol.467
, pp. 1099-1103
-
-
Kong, A.1
Thorleifsson, G.2
Gudbjartsson, D.F.3
Masson, G.4
Sigurdsson, A.5
Jonasdottir, A.6
Walters, G.B.7
Gylfason, A.8
Kristinsson, K.T.9
Gudjonsson, S.A.10
-
18
-
-
39449106471
-
Sequence variants in the RNF212 gene associate with genome-wide recombination rate
-
Kong, A., Thorleifsson, G., Stefansson, H., Masson, G., Helgason, A., Gudbjartsson, D.F., Jonsdottir, G.M., Gudjonsson, S.A., Sverrisson, S., Thorlacius, T. et al. (2008) Sequence variants in the RNF212 gene associate with genome-wide recombination rate. Science, 319, 1398-1401.
-
(2008)
Science
, vol.319
, pp. 1398-1401
-
-
Kong, A.1
Thorleifsson, G.2
Stefansson, H.3
Masson, G.4
Helgason, A.5
Gudbjartsson, D.F.6
Jonsdottir, G.M.7
Gudjonsson, S.A.8
Sverrisson, S.9
Thorlacius, T.10
-
19
-
-
0343384391
-
Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21
-
Brown, A.S., Feingold, E., Broman, K.W. and Sherman, S.L. (2000) Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21. Hum. Mol. Genet., 9, 515-523.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 515-523
-
-
Brown, A.S.1
Feingold, E.2
Broman, K.W.3
Sherman, S.L.4
-
20
-
-
13944278863
-
Acommon inversion under selection in Europeans
-
Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V.G. et al. (2005)Acommon inversion under selection in Europeans. Nat. Genet., 37, 129-137.
-
(2005)
Nat. Genet
, vol.37
, pp. 129-137
-
-
Stefansson, H.1
Helgason, A.2
Thorleifsson, G.3
Steinthorsdottir, V.4
Masson, G.5
Barnard, J.6
Baker, A.7
Jonasdottir, A.8
Ingason, A.9
Gudnadottir, V.G.10
-
21
-
-
76749170346
-
PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice
-
Baudat, F., Buard, J., Grey, C., Fledel-Alon, A., Ober, C., Przeworski, M., Coop, G. and de Massy, B. (2010)PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science, 327, 836-840.
-
(2010)
Science
, vol.327
, pp. 836-840
-
-
Baudat, F.1
Buard, J.2
Grey, C.3
Fledel-Alon, A.4
Ober, C.5
Przeworski, M.6
Coop, G.7
de Massy, B.8
-
22
-
-
77957579303
-
PRDM9 Variation strongly influences recombination hot-spot activity and meiotic instability in humans
-
Berg, I.L., Neumann, R., Lam, K.W.G., Sarbajna, S., Odenthal-Hesse, L., May, C.A. and Jeffreys, A.J. (2010) PRDM9 Variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat. Genet., 42, 859-+.
-
(2010)
Nat. Genet
, vol.42
, pp. 859
-
-
Berg, I.L.1
Neumann, R.2
Lam, K.W.G.3
Sarbajna, S.4
Odenthal-Hesse, L.5
May, C.A.6
Jeffreys, A.J.7
-
23
-
-
79961097286
-
Variants of the proteinPRDM9differentially regulate a set of human meiotic recombination hotspots highly active in African populations
-
Berg, I.L., Neumann, R., Sarbajna, S., Odenthal-Hesse, L., Butler, N.J. and Jeffreys, A.J. (2011) Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. Proc. Natl Acad. Sci. USA, 108, 12378-12383.
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 12378-12383
-
-
Berg, I.L.1
Neumann, R.2
Sarbajna, S.3
Odenthal-Hesse, L.4
Butler, N.J.5
Jeffreys, A.J.6
-
24
-
-
10544226872
-
Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II
-
Lamb, N.E., Freeman, S.B., Savage-Austin, A., Pettay, D., Taft, L., Hersey, J., Gu, Y., Shen, J., Saker, D., May, K.M. et al. (1996) Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat. Genet., 14, 400-405.
-
(1996)
Nat. Genet.
, vol.14
, pp. 400-405
-
-
Lamb, N.E.1
Freeman, S.B.2
Savage-Austin, A.3
Pettay, D.4
Taft, L.5
Hersey, J.6
Gu, Y.7
Shen, J.8
Saker, D.9
May, K.M.10
-
25
-
-
0027365391
-
Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19
-
Weber, J.L., Wang, Z., Hansen, K., Stephenson, M., Kappel, C., Salzman, S., Wilkie, P.J., Keats, B., Dracopoli, N.C., Brandriff, B.F. et al. (1993) Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19. Am. J. Hum. Genet., 53, 1079-1095.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 1079-1095
-
-
Weber, J.L.1
Wang, Z.2
Hansen, K.3
Stephenson, M.4
Kappel, C.5
Salzman, S.6
Wilkie, P.J.7
Keats, B.8
Dracopoli, N.C.9
Brandriff, B.F.10
-
26
-
-
0015880118
-
A meiotic mutant affecting recombination in female Drosophila melanogaster
-
Parry, D.M. (1973) A meiotic mutant affecting recombination in female Drosophila melanogaster. Genetics, 73, 465-486.
-
(1973)
Genetics
, vol.73
, pp. 465-486
-
-
Parry, D.M.1
-
27
-
-
0028810669
-
Mutant rec-1 eliminates the meiotic pattern of crossing over in Caenorhabditis elegans
-
Zetka, M.C. and Rose, A.M. (1995) Mutant rec-1 eliminates the meiotic pattern of crossing over in Caenorhabditis elegans. Genetics, 141, 1339-1349.
-
(1995)
Genetics
, vol.141
, pp. 1339-1349
-
-
Zetka, M.C.1
Rose, A.M.2
-
28
-
-
79959257505
-
Variation in human recombination rates and its genetic determinants
-
Fledel-Alon, A., Leffler, E.M., Guan, Y., Stephens, M., Coop, G. and Przeworski, M. (2011) Variation in human recombination rates and its genetic determinants. PLoS One, 6, e20321.
-
(2011)
PLoS One
, vol.6
-
-
Fledel-Alon, A.1
Leffler, E.M.2
Guan, Y.3
Stephens, M.4
Coop, G.5
Przeworski, M.6
-
29
-
-
84874617280
-
RNF212 Is a dosage-sensitive regulator of crossing-over duringmammalian meiosis
-
Reynolds, A., Qiao, H., Yang, Y., Chen, J.K., Jackson, N., Biswas, K., Holloway, J.K., Baudat, F., de Massy, B., Wang, J. et al. (2013) RNF212 Is a dosage-sensitive regulator of crossing-over duringmammalian meiosis. Nat. Genet., 45, 269-278.
-
(2013)
Nat. Genet.
, vol.45
, pp. 269-278
-
-
Reynolds, A.1
Qiao, H.2
Yang, Y.3
Chen, J.K.4
Jackson, N.5
Biswas, K.6
Holloway, J.K.7
Baudat, F.8
de Massy, B.9
Wang, J.10
-
30
-
-
3042813452
-
The structure of the tau haplotype in controls and in progressive supranuclear palsy
-
Pittman, A.M., Myers, A.J., Duckworth, J., Bryden, L., Hanson, M., Abou-Sleiman, P., Wood, N.W., Hardy, J., Lees, A. and de Silva, R. (2004) The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum. Mol. Genet., 13, 1267-1274.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1267-1274
-
-
Pittman, A.M.1
Myers, A.J.2
Duckworth, J.3
Bryden, L.4
Hanson, M.5
Abou-Sleiman, P.6
Wood, N.W.7
Hardy, J.8
Lees, A.9
de Silva, R.10
-
31
-
-
84865804544
-
Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner
-
de Jong, S., Chepelev, I., Janson, E., Strengman, E., van den Berg, L.H., Veldink, J.H. and Ophoff, R.A. (2012) Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner. BMC Genomics, 13, 458.
-
(2012)
BMC Genomics
, vol.13
, pp. 458
-
-
De Jong, S.1
Chepelev, I.2
Janson, E.3
Strengman, E.4
Van Den Berg, L.H.5
Veldink, J.H.6
Ophoff, R.A.7
-
32
-
-
84862762008
-
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21
-
Oliver, T.R., Tinker, S.W., Allen, E.G., Hollis, N., Locke, A.E., Bean, L.J., Chowdhury, R., Begum, F., Marazita, M., Cheung, V. et al. (2011) Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21. Hum. Genet., 131, 1039-1046.
-
(2011)
Hum. Genet.
, vol.131
, pp. 1039-1046
-
-
Oliver, T.R.1
Tinker, S.W.2
Allen, E.G.3
Hollis, N.4
Locke, A.E.5
Bean, L.J.6
Chowdhury, R.7
Begum, F.8
Marazita, M.9
Cheung, V.10
-
33
-
-
39449116116
-
High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans
-
Coop, G., Wen, X., Ober, C., Pritchard, J.K. and Przeworski, M. (2008) High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. Science, 319, 1395-1398.
-
(2008)
Science
, vol.319
, pp. 1395-1398
-
-
Coop, G.1
Wen, X.2
Ober, C.3
Pritchard, J.K.4
Przeworski, M.5
-
34
-
-
0030058258
-
Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study
-
Yoon, P.W., Freeman, S.B., Sherman, S.L., Taft, L.F., Gu, Y., Pettay, D., Flanders, W.D., Khoury, M.J. and Hassold, T.J. (1996) Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of chromosomal error: a population-based study. Am. J. Hum. Genet., 58, 628-633.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 628-633
-
-
Yoon, P.W.1
Freeman, S.B.2
Sherman, S.L.3
Taft, L.F.4
Gu, Y.5
Pettay, D.6
Flanders, W.D.7
Khoury, M.J.8
Hassold, T.J.9
-
35
-
-
0026536404
-
The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms
-
Antonarakis, S.E., Petersen, M.B., McInnis, M.G., Adelsberger, P.A., Schinzel, A.A., Binkert, F., Pangalos, C., Raoul, O., Slaugenhaupt, S.A., Hafez, M. et al. (1992) The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am. J. Hum. Genet., 50, 544-550.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 544-550
-
-
Antonarakis, S.E.1
Petersen, M.B.2
McInnis, M.G.3
Adelsberger, P.A.4
Schinzel, A.A.5
Binkert, F.6
Pangalos, C.7
Raoul, O.8
Slaugenhaupt, S.A.9
Hafez, M.10
-
36
-
-
0034031281
-
Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21
-
Muller, F., Rebiffe, M., Taillandier, A., Oury, J.F. and Mornet, E. (2000) Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21. Hum. Genet., 106, 340-344.
-
(2000)
Hum. Genet.
, vol.106
, pp. 340-344
-
-
Muller, F.1
Rebiffe, M.2
Taillandier, A.3
Oury, J.F.4
Mornet, E.5
-
37
-
-
11144292271
-
Recombination rate and reproductive success in humans
-
Kong, A., Barnard, J., Gudbjartsson, D.F., Thorleifsson, G., Jonsdottir, G., Sigurdardottir, S., Richardsson, B., Jonsdottir, J., Thorgeirsson, T., Frigge, M.L. et al. (2004) Recombination rate and reproductive success in humans. Nat. Genet., 36, 1203-1206.
-
(2004)
Nat. Genet.
, vol.36
, pp. 1203-1206
-
-
Kong, A.1
Barnard, J.2
Gudbjartsson, D.F.3
Thorleifsson, G.4
Jonsdottir, G.5
Sigurdardottir, S.6
Richardsson, B.7
Jonsdottir, J.8
Thorgeirsson, T.9
Frigge, M.L.10
|