-
1
-
-
55349112202
-
Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis
-
COI: 1:CAS:528:DC%2BD1cXhtlaitrjN, PID: 18470947
-
Balaresque P, Bowden GR, Parkin EJ, Omran GA, Heyer E, Quintana-Murci L, Roewer L, Stoneking M, Nasidze I, Carvalho-Silva DR, Tyler-Smith C, de Knijff P, Jobling MA (2008) Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis. Hum Mutat 29:1171–1180
-
(2008)
Hum Mutat
, vol.29
, pp. 1171-1180
-
-
Balaresque, P.1
Bowden, G.R.2
Parkin, E.J.3
Omran, G.A.4
Heyer, E.5
Quintana-Murci, L.6
Roewer, L.7
Stoneking, M.8
Nasidze, I.9
Carvalho-Silva, D.R.10
Tyler-Smith, C.11
de Knijff, P.12
Jobling, M.A.13
-
2
-
-
62549094834
-
Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications
-
PID: 18553096
-
Balaresque P, Parkin EJ, Roewer L, Carvalho-Silva DR, Mitchell RJ, van Oorschot RA, Henke J, Stoneking M, Nasidze I, Wetton J, de Knijff P, Tyler-Smith C, Jobling MA (2009) Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications. Int J Legal Med 123:15–23
-
(2009)
Int J Legal Med
, vol.123
, pp. 15-23
-
-
Balaresque, P.1
Parkin, E.J.2
Roewer, L.3
Carvalho-Silva, D.R.4
Mitchell, R.J.5
van Oorschot, R.A.6
Henke, J.7
Stoneking, M.8
Nasidze, I.9
Wetton, J.10
de Knijff, P.11
Tyler-Smith, C.12
Jobling, M.A.13
-
3
-
-
0033952762
-
MSY2: a slowly evolving minisatellite on the human Y chromosome which provides a useful polymorphic marker in Chinese populations
-
COI: 1:CAS:528:DC%2BD3cXht1Cjsb0%3D, PID: 10689184
-
Bao W, Zhu S, Pandya A, Zerjal T, Xu J, Shu Q, Du R, Yang H, Tyler-Smith C (2000) MSY2: a slowly evolving minisatellite on the human Y chromosome which provides a useful polymorphic marker in Chinese populations. Gene 244:29–33
-
(2000)
Gene
, vol.244
, pp. 29-33
-
-
Bao, W.1
Zhu, S.2
Pandya, A.3
Zerjal, T.4
Xu, J.5
Shu, Q.6
Du, R.7
Yang, H.8
Tyler-Smith, C.9
-
4
-
-
0037320728
-
Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility
-
COI: 1:CAS:528:DC%2BD3sXitVWqt70%3D, PID: 12554687
-
Bosch E, Jobling MA (2003) Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum Mol Genet 12:341–347
-
(2003)
Hum Mol Genet
, vol.12
, pp. 341-347
-
-
Bosch, E.1
Jobling, M.A.2
-
5
-
-
12444324656
-
A Y chromosome census of the British Isles
-
COI: 1:CAS:528:DC%2BD3sXkt1yks74%3D, PID: 12781138
-
Capelli C, Redhead N, Abernethy JK, Gratrix F, Wilson JF, Moen T, Hervig T, Richards M, Stumpf MP, Underhill PA, Bradshaw P, Shaha A, Thomas MG, Bradman N, Goldstein DB (2003) A Y chromosome census of the British Isles. Curr Biol 13:979–984
-
(2003)
Curr Biol
, vol.13
, pp. 979-984
-
-
Capelli, C.1
Redhead, N.2
Abernethy, J.K.3
Gratrix, F.4
Wilson, J.F.5
Moen, T.6
Hervig, T.7
Richards, M.8
Stumpf, M.P.9
Underhill, P.A.10
Bradshaw, P.11
Shaha, A.12
Thomas, M.G.13
Bradman, N.14
Goldstein, D.B.15
-
6
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
COI: 1:CAS:528:DC%2BD1MXht1CisLrL, PID: 19812545
-
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME (2010) Origins and functional impact of copy number variation in the human genome. Nature 464:704–712
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
Fitzgerald, T.11
Hu, M.12
Ihm, C.H.13
Kristiansson, K.14
Macarthur, D.G.15
Macdonald, J.R.16
Onyiah, I.17
Pang, A.W.18
Robson, S.19
Stirrups, K.20
Valsesia, A.21
Walter, K.22
Wei, J.23
Tyler-Smith, C.24
Carter, N.P.25
Lee, C.26
Scherer, S.W.27
Hurles, M.E.28
more..
-
7
-
-
0023014121
-
Small deletions of the short arm of the Y chromosome in 46, XY females
-
COI: 1:STN:280:DyaL2s%2FhslSnsw%3D%3D, PID: 3464001
-
Disteche CM, Casanova M, Saal H, Friedman C, Sybert V, Graham J, Thuline H, Page DC, Fellous M (1986) Small deletions of the short arm of the Y chromosome in 46, XY females. Proc Natl Acad Sci USA 83:7841–7844
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 7841-7844
-
-
Disteche, C.M.1
Casanova, M.2
Saal, H.3
Friedman, C.4
Sybert, V.5
Graham, J.6
Thuline, H.7
Page, D.C.8
Fellous, M.9
-
8
-
-
0345742509
-
A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N
-
COI: 1:CAS:528:DC%2BD2cXlvVOqsg%3D%3D, PID: 14639527
-
Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH (2004) A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am J Hum Genet 74:180–187
-
(2004)
Am J Hum Genet
, vol.74
, pp. 180-187
-
-
Fernandes, S.1
Paracchini, S.2
Meyer, L.H.3
Floridia, G.4
Tyler-Smith, C.5
Vogt, P.H.6
-
9
-
-
33746741125
-
Copy number variation: new insights in genome diversity
-
COI: 1:CAS:528:DC%2BD28Xot1Kktb8%3D, PID: 16809666
-
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, Altshuler DM, Aburatani H, Jones KW, Tyler-Smith C, Hurles ME, Carter NP, Scherer SW, Lee C (2006) Copy number variation: new insights in genome diversity. Genome Res 16:949–961
-
(2006)
Genome Res
, vol.16
, pp. 949-961
-
-
Freeman, J.L.1
Perry, G.H.2
Feuk, L.3
Redon, R.4
McCarroll, S.A.5
Altshuler, D.M.6
Aburatani, H.7
Jones, K.W.8
Tyler-Smith, C.9
Hurles, M.E.10
Carter, N.P.11
Scherer, S.W.12
Lee, C.13
-
10
-
-
70349923423
-
TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages
-
COI: 1:CAS:528:DC%2BD1MXht12ru7fI, PID: 19773397
-
Giachini C, Nuti F, Turner DJ, Laface I, Xue Y, Daguin F, Forti G, Tyler-Smith C, Krausz C (2009) TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. J Clin Endocrinol Metab 94:4016–4022
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 4016-4022
-
-
Giachini, C.1
Nuti, F.2
Turner, D.J.3
Laface, I.4
Xue, Y.5
Daguin, F.6
Forti, G.7
Tyler-Smith, C.8
Krausz, C.9
-
11
-
-
0028106356
-
A recent insertion of an Alu element on the Y chromosome is a useful marker for human population studies
-
COI: 1:CAS:528:DyaK2cXmslentrY%3D, PID: 7968488
-
Hammer MF (1994) A recent insertion of an Alu element on the Y chromosome is a useful marker for human population studies. Mol Biol Evol 11:749–761
-
(1994)
Mol Biol Evol
, vol.11
, pp. 749-761
-
-
Hammer, M.F.1
-
12
-
-
62549109552
-
Copy number variation on the human Y chromosome
-
COI: 1:STN:280:DC%2BD1M3gvFehsg%3D%3D, PID: 19287162
-
Jobling MA (2008) Copy number variation on the human Y chromosome. Cytogenet Genome Res 123:253–262
-
(2008)
Cytogenet Genome Res
, vol.123
, pp. 253-262
-
-
Jobling, M.A.1
-
13
-
-
0042766533
-
The human Y chromosome: an evolutionary marker comes of age
-
COI: 1:CAS:528:DC%2BD3sXlvFaqt74%3D, PID: 12897772
-
Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612
-
(2003)
Nat Rev Genet
, vol.4
, pp. 598-612
-
-
Jobling, M.A.1
Tyler-Smith, C.2
-
14
-
-
10344260798
-
Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males
-
COI: 1:CAS:528:DyaK28XmslKmsrk%3D, PID: 8923005
-
Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, Mitchell RJ, Gerelsaikhan T, Dashnyam B, Sajantila A, Salo PJ, Nakahori Y, Disteche CM, Thangaraj K, Singh L, Crawford MH, Tyler-Smith C (1996) Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5:1767–1775
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1767-1775
-
-
Jobling, M.A.1
Samara, V.2
Pandya, A.3
Fretwell, N.4
Bernasconi, B.5
Mitchell, R.J.6
Gerelsaikhan, T.7
Dashnyam, B.8
Sajantila, A.9
Salo, P.J.10
Nakahori, Y.11
Disteche, C.M.12
Thangaraj, K.13
Singh, L.14
Crawford, M.H.15
Tyler-Smith, C.16
-
15
-
-
0031925169
-
Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1)
-
COI: 1:CAS:528:DyaK1cXisVemu7s%3D, PID: 9499417
-
Jobling MA, Bouzekri N, Taylor PG (1998) Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1). Hum Mol Genet 7:643–653
-
(1998)
Hum Mol Genet
, vol.7
, pp. 643-653
-
-
Jobling, M.A.1
Bouzekri, N.2
Taylor, P.G.3
-
16
-
-
43149087535
-
New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree
-
COI: 1:CAS:528:DC%2BD1cXlslChsLk%3D, PID: 18385274
-
Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (2008) New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res 18:830–838
-
(2008)
Genome Res
, vol.18
, pp. 830-838
-
-
Karafet, T.M.1
Mendez, F.L.2
Meilerman, M.B.3
Underhill, P.A.4
Zegura, S.L.5
Hammer, M.F.6
-
17
-
-
2442672659
-
A comprehensive survey of human Y-chromosomal microsatellites
-
COI: 1:CAS:528:DC%2BD2cXks1Cqsr4%3D, PID: 15195656
-
Kayser M, Kittler R, Erler A, Hedman M, Lee AC, Mohyuddin A, Mehdi SQ, Rosser Z, Stoneking M, Jobling MA, Sajantila A, Tyler-Smith C (2004) A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet 74:1183–1197
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1183-1197
-
-
Kayser, M.1
Kittler, R.2
Erler, A.3
Hedman, M.4
Lee, A.C.5
Mohyuddin, A.6
Mehdi, S.Q.7
Rosser, Z.8
Stoneking, M.9
Jobling, M.A.10
Sajantila, A.11
Tyler-Smith, C.12
-
18
-
-
84867008423
-
Turner syndrome: new insights into an old disorder
-
PID: 22921912
-
Legro RS (2012) Turner syndrome: new insights into an old disorder. Fertil Steril 98:773–774
-
(2012)
Fertil Steril
, vol.98
, pp. 773-774
-
-
Legro, R.S.1
-
19
-
-
8744291701
-
Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility
-
COI: 1:CAS:528:DC%2BD2cXhtFSjur%2FK, PID: 15520406
-
Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ (2004) Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J Med Genet 41:814–825
-
(2004)
J Med Genet
, vol.41
, pp. 814-825
-
-
Machev, N.1
Saut, N.2
Longepied, G.3
Terriou, P.4
Navarro, A.5
Levy, N.6
Guichaoua, M.7
Metzler-Guillemain, C.8
Collignon, P.9
Frances, A.M.10
Belougne, J.11
Clemente, E.12
Chiaroni, J.13
Chevillard, C.14
Durand, C.15
Ducourneau, A.16
Pech, N.17
McElreavey, K.18
Mattei, M.G.19
Mitchell, M.J.20
more..
-
20
-
-
0027957582
-
Highly informative compound haplotypes for the human Y chromosome
-
COI: 1:CAS:528:DyaK2cXhvVClsbY%3D, PID: 7909247
-
Mathias N, Bayes M, Tyler-Smith C (1994) Highly informative compound haplotypes for the human Y chromosome. Hum Mol Genet 3:115–123
-
(1994)
Hum Mol Genet
, vol.3
, pp. 115-123
-
-
Mathias, N.1
Bayes, M.2
Tyler-Smith, C.3
-
21
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
COI: 1:CAS:528:DC%2BC3MXhsVymsr4%3D, PID: 21293372
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stutz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO (2011) Mapping copy number variation by population-scale genome sequencing. Nature 470:59–65
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
Chinwalla, A.11
Conrad, D.F.12
Fu, Y.13
Grubert, F.14
Hajirasouliha, I.15
Hormozdiari, F.16
Iakoucheva, L.M.17
Iqbal, Z.18
Kang, S.19
Kidd, J.M.20
Konkel, M.K.21
Korn, J.22
Khurana, E.23
Kural, D.24
Lam, H.Y.25
Leng, J.26
Li, R.27
Li, Y.28
Lin, C.Y.29
Luo, R.30
Mu, X.J.31
Nemesh, J.32
Peckham, H.E.33
Rausch, T.34
Scally, A.35
Shi, X.36
Stromberg, M.P.37
Stutz, A.M.38
Urban, A.E.39
Walker, J.A.40
Wu, J.41
Zhang, Y.42
Zhang, Z.D.43
Batzer, M.A.44
Ding, L.45
Marth, G.T.46
McVean, G.47
Sebat, J.48
Snyder, M.49
Wang, J.50
Eichler, E.E.51
Gerstein, M.B.52
Hurles, M.E.53
Lee, C.54
McCarroll, S.A.55
Korbel, J.O.56
more..
-
22
-
-
34548179557
-
Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and TBL1Y: implications for sex chromosome analysis and bone marrow engraftment analysis
-
COI: 1:CAS:528:DC%2BD2sXot1Kqs7w%3D, PID: 17591941
-
Murphy KM, Cohen JS, Goodrich A, Long PP, Griffin CA (2007) Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and TBL1Y: implications for sex chromosome analysis and bone marrow engraftment analysis. J Mol Diagn 9:408–413
-
(2007)
J Mol Diagn
, vol.9
, pp. 408-413
-
-
Murphy, K.M.1
Cohen, J.S.2
Goodrich, A.3
Long, P.P.4
Griffin, C.A.5
-
23
-
-
0025125455
-
Y chromosome DNA haplotyping suggests that most European and Asian men are descended from one of two males
-
COI: 1:CAS:528:DyaK3MXhs1WmsL4%3D, PID: 1973137
-
Oakey R, Tyler-Smith C (1990) Y chromosome DNA haplotyping suggests that most European and Asian men are descended from one of two males. Genomics 7:325–330
-
(1990)
Genomics
, vol.7
, pp. 325-330
-
-
Oakey, R.1
Tyler-Smith, C.2
-
24
-
-
33845628015
-
Chromosome Y polysomy: a non-mosaic 49,XYYYY case
-
PID: 17159520
-
Paoloni-Giacobino A, Lespinasse J (2007) Chromosome Y polysomy: a non-mosaic 49,XYYYY case. Clin Dysmorphol 16:65–66
-
(2007)
Clin Dysmorphol
, vol.16
, pp. 65-66
-
-
Paoloni-Giacobino, A.1
Lespinasse, J.2
-
25
-
-
33751329250
-
Global variation in copy number in the human genome
-
COI: 1:CAS:528:DC%2BD28Xht1aku7zI, PID: 17122850
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME (2006) Global variation in copy number in the human genome. Nature 444:444–454
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
Gonzalez, J.R.14
Gratacos, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Armengol, L.33
Conrad, D.F.34
Estivill, X.35
Tyler-Smith, C.36
Carter, N.P.37
Aburatani, H.38
Lee, C.39
Jones, K.W.40
Scherer, S.W.41
Hurles, M.E.42
more..
-
26
-
-
0242298320
-
Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection
-
COI: 1:CAS:528:DC%2BD3sXosFWrtrw%3D, PID: 14528305
-
Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S, van der Veen F, Page DC, Rozen S (2003) Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 35:247–251
-
(2003)
Nat Genet
, vol.35
, pp. 247-251
-
-
Repping, S.1
Skaletsky, H.2
Brown, L.3
van Daalen, S.K.4
Korver, C.M.5
Pyntikova, T.6
Kuroda-Kawaguchi, T.7
de Vries, J.W.8
Oates, R.D.9
Silber, S.10
van der Veen, F.11
Page, D.C.12
Rozen, S.13
-
27
-
-
2642530984
-
A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region
-
COI: 1:CAS:528:DC%2BD2cXksFKisLc%3D, PID: 15177557
-
Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC, Rozen S (2004) A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 83:1046–1052
-
(2004)
Genomics
, vol.83
, pp. 1046-1052
-
-
Repping, S.1
van Daalen, S.K.2
Korver, C.M.3
Brown, L.G.4
Marszalek, J.D.5
Gianotten, J.6
Oates, R.D.7
Silber, S.8
van der Veen, F.9
Page, D.C.10
Rozen, S.11
-
28
-
-
33645418499
-
High mutation rates have driven extensive structural polymorphism among human Y chromosomes
-
COI: 1:CAS:528:DC%2BD28XivFSht7s%3D, PID: 16501575
-
Repping S, van Daalen SK, Brown LG, Korver CM, Lange J, Marszalek JD, Pyntikova T, van der Veen F, Skaletsky H, Page DC, Rozen S (2006) High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 38:463–467
-
(2006)
Nat Genet
, vol.38
, pp. 463-467
-
-
Repping, S.1
van Daalen, S.K.2
Brown, L.G.3
Korver, C.M.4
Lange, J.5
Marszalek, J.D.6
Pyntikova, T.7
van der Veen, F.8
Skaletsky, H.9
Page, D.C.10
Rozen, S.11
-
29
-
-
84868455604
-
AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes
-
COI: 1:CAS:528:DC%2BC38XhsF2hsLjJ, PID: 23103232
-
Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K, Page DC (2012) AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. Am J Hum Genet 91:890–896
-
(2012)
Am J Hum Genet
, vol.91
, pp. 890-896
-
-
Rozen, S.G.1
Marszalek, J.D.2
Irenze, K.3
Skaletsky, H.4
Brown, L.G.5
Oates, R.D.6
Silber, S.J.7
Ardlie, K.8
Page, D.C.9
-
30
-
-
0031989066
-
Reliability of DNA-based sex tests
-
COI: 1:CAS:528:DyaK1cXosFCguw%3D%3D, PID: 9462733
-
Santos FR, Pandya A, Tyler-Smith C (1998) Reliability of DNA-based sex tests. Nat Genet 18:103
-
(1998)
Nat Genet
, vol.18
, pp. 103
-
-
Santos, F.R.1
Pandya, A.2
Tyler-Smith, C.3
-
31
-
-
0034639635
-
A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome
-
COI: 1:CAS:528:DC%2BD3cXhsVOjuro%3D, PID: 10655552
-
Santos FR, Pandya A, Kayser M, Mitchell RJ, Liu A, Singh L, Destro-Bisol G, Novelletto A, Qamar R, Mehdi SQ, Adhikari R, de Knijff P, Tyler-Smith C (2000) A polymorphic L1 retroposon insertion in the centromere of the human Y chromosome. Hum Mol Genet 9:421–430
-
(2000)
Hum Mol Genet
, vol.9
, pp. 421-430
-
-
Santos, F.R.1
Pandya, A.2
Kayser, M.3
Mitchell, R.J.4
Liu, A.5
Singh, L.6
Destro-Bisol, G.7
Novelletto, A.8
Qamar, R.9
Mehdi, S.Q.10
Adhikari, R.11
de Knijff, P.12
Tyler-Smith, C.13
-
32
-
-
0034253627
-
Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome
-
COI: 1:CAS:528:DC%2BD3cXlsVKlu78%3D, PID: 10936047
-
Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, Ma P, Chen E, Hoovers JM, Page DC (2000) Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67:256–267
-
(2000)
Genomics
, vol.67
, pp. 256-267
-
-
Saxena, R.1
de Vries, J.W.2
Repping, S.3
Alagappan, R.K.4
Skaletsky, H.5
Brown, L.G.6
Ma, P.7
Chen, E.8
Hoovers, J.M.9
Page, D.C.10
-
33
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
The 1000 Genomes Project Consortium (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56–65
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
The 1000 Genomes Project Consortium1
-
34
-
-
84924666082
-
Large-scale discovery of novel genetic causes of developmental disorders
-
The Deciphering Developmental Disorders Study (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature 519:223–228
-
(2015)
Nature
, vol.519
, pp. 223-228
-
-
The Deciphering Developmental Disorders Study1
-
35
-
-
0017119580
-
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
-
COI: 1:STN:280:DyaE2s%2FntVaqsw%3D%3D, PID: 1002136
-
Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34:119–124
-
(1976)
Hum Genet
, vol.34
, pp. 119-124
-
-
Tiepolo, L.1
Zuffardi, O.2
-
36
-
-
61449236482
-
The will-o’-the-wisp of genetics—hunting for the azoospermia factor gene
-
COI: 1:CAS:528:DC%2BD1MXis1Cntro%3D, PID: 19246366
-
Tyler-Smith C, Krausz C (2009) The will-o’-the-wisp of genetics—hunting for the azoospermia factor gene. N Engl J Med 360:925–927
-
(2009)
N Engl J Med
, vol.360
, pp. 925-927
-
-
Tyler-Smith, C.1
Krausz, C.2
-
37
-
-
0007272350
-
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
-
COI: 1:CAS:528:DyaK28Xkt1Cntrk%3D, PID: 8817327
-
Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Grone HJ, Jung A, Engel W, Haidl G (1996) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933–943
-
(1996)
Hum Mol Genet
, vol.5
, pp. 933-943
-
-
Vogt, P.H.1
Edelmann, A.2
Kirsch, S.3
Henegariu, O.4
Hirschmann, P.5
Kiesewetter, F.6
Kohn, F.M.7
Schill, W.B.8
Farah, S.9
Ramos, C.10
Hartmann, M.11
Hartschuh, W.12
Meschede, D.13
Behre, H.M.14
Castel, A.15
Nieschlag, E.16
Weidner, W.17
Grone, H.J.18
Jung, A.19
Engel, W.20
Haidl, G.21
more..
-
38
-
-
84903517759
-
Human UTY(KDM6C) is a male-specific N-methyl lysyl demethylase
-
COI: 1:CAS:528:DC%2BC2cXhtVGjsLrM, PID: 24798337
-
Walport LJ, Hopkinson RJ, Vollmar M, Madden SK, Gileadi C, Oppermann U, Schofield CJ, Johansson C (2014) Human UTY(KDM6C) is a male-specific N-methyl lysyl demethylase. J Biol Chem 289:18302–18313
-
(2014)
J Biol Chem
, vol.289
, pp. 18302-18313
-
-
Walport, L.J.1
Hopkinson, R.J.2
Vollmar, M.3
Madden, S.K.4
Gileadi, C.5
Oppermann, U.6
Schofield, C.J.7
Johansson, C.8
-
39
-
-
84873729269
-
Genetic basis of Y-linked hearing impairment
-
COI: 1:CAS:528:DC%2BC3sXhsFCksrY%3D, PID: 23352258
-
Wang Q, Xue Y, Zhang Y, Long Q, Yang F, Turner DJ, Fitzgerald T, Ng BL, Zhao Y, Chen Y, Liu Q, Yang W, Han D, Quail MA, Swerdlow H, Burton J, Fahey C, Ning Z, Hurles ME, Carter NP, Yang H, Tyler-Smith C (2013) Genetic basis of Y-linked hearing impairment. Am J Hum Genet 92:301–306
-
(2013)
Am J Hum Genet
, vol.92
, pp. 301-306
-
-
Wang, Q.1
Xue, Y.2
Zhang, Y.3
Long, Q.4
Yang, F.5
Turner, D.J.6
Fitzgerald, T.7
Ng, B.L.8
Zhao, Y.9
Chen, Y.10
Liu, Q.11
Yang, W.12
Han, D.13
Quail, M.A.14
Swerdlow, H.15
Burton, J.16
Fahey, C.17
Ning, Z.18
Hurles, M.E.19
Carter, N.P.20
Yang, H.21
Tyler-Smith, C.22
more..
-
40
-
-
84868692234
-
A calibrated human Y-chromosomal phylogeny based on resequencing
-
COI: 1:CAS:528:DC%2BC3sXitVemtLg%3D, PID: 23038768
-
Wei W, Ayub Q, Chen Y, McCarthy S, Hou Y, Carbone I, Xue Y, Tyler-Smith C (2013) A calibrated human Y-chromosomal phylogeny based on resequencing. Genome Res 23:388–395
-
(2013)
Genome Res
, vol.23
, pp. 388-395
-
-
Wei, W.1
Ayub, Q.2
Chen, Y.3
McCarthy, S.4
Hou, Y.5
Carbone, I.6
Xue, Y.7
Tyler-Smith, C.8
|