-
1
-
-
84868455604
-
AZFc deletions and spermatogenic failure: A population-based survey of 20,000 y chromosomes
-
Rozen, S. G. et al. AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. Am. J. Hum. Genet. 91, 890-896 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 890-896
-
-
Rozen, S.G.1
-
2
-
-
0037967242
-
The male-specific region of the human y chromosome is a mosaic of discrete sequence classes
-
Skaletsky, H. et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423, 825-837 (2003).
-
(2003)
Nature
, vol.423
, pp. 825-837
-
-
Skaletsky, H.1
-
3
-
-
33645418499
-
High mutation rates have driven extensive structural polymorphism among human y chromosomes
-
Repping, S. et al. High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat. Genet. 38, 463-467 (2006).
-
(2006)
Nat. Genet.
, vol.38
, pp. 463-467
-
-
Repping, S.1
-
4
-
-
80054880543
-
Additional genomic duplications in AZFc underlie the b2/b3 deletion-associated risk of spermatogenic impairment in Han Chinese population
-
Lu, C. et al. Additional genomic duplications in AZFc underlie the b2/b3 deletion-associated risk of spermatogenic impairment in Han Chinese population. Hum. Mol. Genet. 20, 4411-4421 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 4411-4421
-
-
Lu, C.1
-
5
-
-
61849119167
-
The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population
-
Lu, C. et al. The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Hum. Mol. Genet. 18, 1122-1130 (2009).
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 1122-1130
-
-
Lu, C.1
-
6
-
-
55749092276
-
Partial AZFc deletions and duplications: Clinical correlates in the Italian population
-
Giachini, C. et al. Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum. Genet. 124, 399-410 (2008).
-
(2008)
Hum. Genet.
, vol.124
, pp. 399-410
-
-
Giachini, C.1
-
7
-
-
77956281057
-
Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population
-
Yang, Y. et al. Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population. Int. J. Androl. 33, 745-754 (2010).
-
(2010)
Int. J. Androl.
, vol.33
, pp. 745-754
-
-
Yang, Y.1
-
8
-
-
84901029820
-
Clinical relevance of Y-linked CNV screening in male infertility: New insights based on the 8-year experience of a diagnostic genetic laboratory
-
Lo Giacco, D. et al. Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory. Eur. J. Hum. Genet. 22: 754-761 (2014).
-
(2014)
Eur. J. Hum. Genet.
, vol.22
, pp. 754-761
-
-
Lo Giacco, D.1
-
9
-
-
34247599221
-
Partial duplication at AZFc on the y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan
-
Lin, Y. W. et al. Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan. Hum. Mutat. 28, 486-494 (2007).
-
(2007)
Hum. Mutat.
, vol.28
, pp. 486-494
-
-
Lin, Y.W.1
-
10
-
-
84885114081
-
Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China
-
Ye, J. J. et al. Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China. J. Zhejiang Univ. Sci. B 14, 807-815 (2013).
-
(2013)
J. Zhejiang Univ. Sci. B
, vol.14
, pp. 807-815
-
-
Ye, J.J.1
-
11
-
-
33748637772
-
Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males
-
de Carvalho, C. M. et al. Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males. J. Hum. Genet. 51, 794-799 (2006).
-
(2006)
J. Hum. Genet.
, vol.51
, pp. 794-799
-
-
De Carvalho, C.M.1
-
12
-
-
58549105128
-
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background
-
Krausz, C. et al. Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background. J. Med. Genet. 46, 21-31 (2009).
-
(2009)
J. Med. Genet.
, vol.46
, pp. 21-31
-
-
Krausz, C.1
-
13
-
-
77955636758
-
The AZFc region of the y chromosome: At the crossroads between genetic diversity and male infertility
-
Navarro-Costa, P., Gonçalves, J. & Plancha, C. E. The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum. Reprod. Update. 16, 525-542 (2010).
-
(2010)
Hum. Reprod. Update.
, vol.16
, pp. 525-542
-
-
Navarro-Costa, P.1
Gonçalves, J.2
Plancha, C.E.3
-
14
-
-
79951729028
-
What about gr/gr deletions and male infertility? Systematic review and meta-analysis
-
Stouffs, K., Lissens, W., Tournaye, H. & Haentjens, P. What about gr/gr deletions and male infertility? Systematic review and meta-analysis. Hum. Reprod. Update. 17, 197-209 (2011).
-
(2011)
Hum. Reprod. Update.
, vol.17
, pp. 197-209
-
-
Stouffs, K.1
Lissens, W.2
Tournaye, H.3
Haentjens, P.4
-
15
-
-
84906058191
-
Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment
-
Lu, C. et al. Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment. Mol. Hum. Reprod. 20, 836-843 (2014).
-
(2014)
Mol. Hum. Reprod.
, vol.20
, pp. 836-843
-
-
Lu, C.1
-
16
-
-
84883143003
-
DAZ duplications confer the predisposition of y chromosome haplogroup K∗to non-obstructive azoospermia in Han Chinese populations
-
Lu, C. et al. DAZ duplications confer the predisposition of Y chromosome haplogroup K∗to non-obstructive azoospermia in Han Chinese populations. Hum. Reprod. 28, 2440-2449 (2013).
-
(2013)
Hum. Reprod.
, vol.28
, pp. 2440-2449
-
-
Lu, C.1
-
17
-
-
70349454102
-
Y chromosome gr/gr deletions are a risk factor for low semen quality
-
Visser, L. et al. Y chromosome gr/gr deletions are a risk factor for low semen quality. Hum. Reprod. 24, 2667-2673 (2009).
-
(2009)
Hum. Reprod.
, vol.24
, pp. 2667-2673
-
-
Visser, L.1
-
18
-
-
79957480628
-
Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count
-
Noordam, M. J. et al. Gene copy number reduction in the azoospermia factor c (AZFc) region and its effect on total motile sperm count. Hum. Mol. Genet. 20, 2457-2463 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 2457-2463
-
-
Noordam, M.J.1
-
19
-
-
0035184973
-
The AZFc region of the y chromosome features massive palindromes and uniform recurrent deletions in infertile men
-
Kuroda-Kawaguchi, T. et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 29, 279-286 (2001).
-
(2001)
Nat. Genet.
, vol.29
, pp. 279-286
-
-
Kuroda-Kawaguchi, T.1
-
20
-
-
0036782130
-
Recombination between palindromes P5 and P1 on the human y chromosome causes massive deletions and spermatogenic failure
-
Repping, S. et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet. 71, 906-922 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 906-922
-
-
Repping, S.1
-
21
-
-
0242298320
-
Polymorphism for a 1.6-Mb deletion of the human y chromosome persists through balance between recurrent mutation and haploid selection
-
Repping, S. et al. 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).
-
(2003)
Nat. Genet.
, vol.35
, pp. 247-251
-
-
Repping, S.1
-
22
-
-
84890840832
-
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State-of-the-art 2013
-
Krausz, C., Hoefsloot, L., Simoni, M. & Tüttelmann, F. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology 2, 5-19 (2014).
-
(2014)
Andrology
, vol.2
, pp. 5-19
-
-
Krausz, C.1
Hoefsloot, L.2
Simoni, M.3
Tüttelmann, F.4
-
23
-
-
84899473294
-
Mammalian y chromosomes retain widely expressed dosage-sensitive regulators
-
Bellott, D. W. et al. Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature 508, 494-499 (2014).
-
(2014)
Nature
, vol.508
, pp. 494-499
-
-
Bellott, D.W.1
-
24
-
-
84875985784
-
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1
-
Lopes, A. M. et al. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet. 9, e1003349 (2013).
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003349
-
-
Lopes, A.M.1
-
25
-
-
34447324101
-
Partial deletions are associated with an increased risk of complete deletion in AZFc: A new insight into the role of partial AZFc deletions in male infertility
-
Zhang, F. et al. Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility. J. Med. Genet. 44, 437-444 (2007).
-
(2007)
J. Med. Genet.
, vol.44
, pp. 437-444
-
-
Zhang, F.1
-
26
-
-
0035500899
-
Recent duplication, domain accretion and the dynamic mutation of the human genome
-
Eichler, E. E. Recent duplication, domain accretion and the dynamic mutation of the human genome. Trends Genet 17, 661-669 (2001).
-
(2001)
Trends Genet
, vol.17
, pp. 661-669
-
-
Eichler, E.E.1
-
27
-
-
77954485536
-
World Health Organization reference values for human semen characteristics
-
Cooper, T. G. et al. World Health Organization reference values for human semen characteristics. Hum. Reprod. Update. 16, 231-245 (2010).
-
(2010)
Hum. Reprod. Update.
, vol.16
, pp. 231-245
-
-
Cooper, T.G.1
-
28
-
-
78649479154
-
Measurement methods and accuracy in copy number variation: Failure to replicate associations of betadefensin copy number with Crohn's disease
-
Aldhous, M. C. et al. Measurement methods and accuracy in copy number variation: failure to replicate associations of betadefensin copy number with Crohn's disease. Hum. Mol. Genet. 19, 4930-4938 (2010).
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4930-4938
-
-
Aldhous, M.C.1
-
29
-
-
37549033125
-
Psoriasis is associated with increased beta-defensin genomic copy number
-
Hollox, E. J. et al. Psoriasis is associated with increased beta-defensin genomic copy number. Nat. Genet. 40, 23-25 (2008).
-
(2008)
Nat. Genet.
, vol.40
, pp. 23-25
-
-
Hollox, E.J.1
-
30
-
-
84864481879
-
MFEprimer-2.0: A fast thermodynamics-based program for checking PCR primer specificity
-
Qu, W. et al. MFEprimer-2.0: a fast thermodynamics-based program for checking PCR primer specificity. Nucleic. Acids Res. 40(Web Server issue), W205-208 (2012).
-
(2012)
Nucleic. Acids Res.
, vol.40
, Issue.WEB SERVER ISSUE
, pp. W205-W208
-
-
Qu, W.1
-
31
-
-
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
-
Machev, N. et al. 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).
-
(2004)
J. Med. Genet.
, vol.41
, pp. 814-825
-
-
Machev, N.1
|