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1
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42949165470
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Microdeletions' of the human Y chromosome and their relationship with male infertility
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The authors provide a comprehensive review of the Y chromosome, the molecular basis for microdeletions and their clinical consequences
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Li Z, Haines CJ, Han Y. 'Microdeletions' of the human Y chromosome and their relationship with male infertility. J Genet Genomics 2008; 35:193-199. The authors provide a comprehensive review of the Y chromosome, the molecular basis for microdeletions and their clinical consequences.
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(2008)
J Genet Genomics
, vol.35
, pp. 193-199
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Li, Z.1
Haines, C.J.2
Han, Y.3
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2
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0037967242
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The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
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Skaletsky H,Kuroda-Kawaguchi T, Minx PJ, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003; 423:825-837.
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(2003)
Nature
, vol.423
, pp. 825-837
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Skaletsky, H.1
Kuroda-Kawaguchi, T.2
Minx, P.J.3
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3
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0035184973
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The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
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Kuroda-Kawaguchi T, Skaletsky H, Brown LG, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001 ; 29:279-286.
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(2001)
Nat Genet
, vol.29
, pp. 279-286
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Kuroda-Kawaguchi, T.1
Skaletsky, H.2
Brown, L.G.3
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4
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0036782130
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Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and epermatogenic failure
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Rapping S, Skaletsky H, Lange J, et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and epermatogenic failure. Am J Hum Genet 2002; 71:906-922.
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(2002)
Am J Hum Genet
, vol.71
, pp. 906-922
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Rapping, S.1
Skaletsky, H.2
Lange, J.3
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5
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43049114970
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Identification of new breakpoints in AZFb and AZFc
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A recent study that reviews rare microdeletions due to nonhomologous recombination mechanisms
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Costa P, Goncalves R, Ferras C, et al. Identification of new breakpoints in AZFb and AZFc. Mol Hum Reprod 2008; 14:251-258. A recent study that reviews rare microdeletions due to nonhomologous recombination mechanisms.
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(2008)
Mol Hum Reprod
, vol.14
, pp. 251-258
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Costa, P.1
Goncalves, R.2
Ferras, C.3
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6
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0037238769
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The human Y chromosome's azoospermia factor b (AZFb) region: Sequence, structure, and deletion analysis in infertile men
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Ferlin A, Moro E, Rossi A, et al. The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 2003; 40:18-24.
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(2003)
J Med Genet
, vol.40
, pp. 18-24
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Ferlin, A.1
Moro, E.2
Rossi, A.3
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7
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44449132717
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Restricted expression of the human DAZ protein in premeiotic germ cells
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Huang WJ, Lin YW, Hsiao KN, et al. Restricted expression of the human DAZ protein in premeiotic germ cells. Hum Reprod 2008; 23:1280-1289.
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(2008)
Hum Reprod
, vol.23
, pp. 1280-1289
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Huang, W.J.1
Lin, Y.W.2
Hsiao, K.N.3
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8
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34447316143
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Meiotic abnormalities in patients bearing complete AZFc deletion of Y chromosome
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Geoffroy-Siraudin C, Aknin-Seiffer I, Metzler-Guillemain C, et al. Meiotic abnormalities in patients bearing complete AZFc deletion of Y chromosome. Hum Reprod 2007; 22:1567-1572.
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(2007)
Hum Reprod
, vol.22
, pp. 1567-1572
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Geoffroy-Siraudin, C.1
Aknin-Seiffer, I.2
Metzler-Guillemain, C.3
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9
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37549035392
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Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers
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This study describes more fully the complicated ampliconic structure of the AZFc region and comments specifically on partial AZFc microdeletions and their possible consequences
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Navarro-Costa P, Pereira L, Alves C, et al. Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers. BMC Genomics 2007; 8:342. This study describes more fully the complicated ampliconic structure of the AZFc region and comments specifically on partial AZFc microdeletions and their possible consequences.
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(2007)
BMC Genomics
, vol.8
, pp. 342
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Navarro-Costa, P.1
Pereira, L.2
Alves, C.3
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10
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34347224382
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A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Man-Chinese population
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Wu B, Lu NX, Xia YK, et al. A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Man-Chinese population. Hum Reprod 2007; 22:1107-1113.
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(2007)
Hum Reprod
, vol.22
, pp. 1107-1113
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Wu, B.1
Lu, N.X.2
Xia, Y.K.3
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11
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49649129159
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The authors posit that taking an evolutionary perspective on the Y chromosome may help with devising new approaches to Y gene discovery and characterization, as well as interpretation of available data
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Tyler-Smith C. An evolutionary perspective on Y-chromosomal variation and male infertility, Int J Androl 2008; 31:376-382. The authors posit that taking an evolutionary perspective on the Y chromosome may help with devising new approaches to Y gene discovery and characterization, as well as interpretation of available data.
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(2008)
An evolutionary perspective on Y-chromosomal variation and male infertility, Int J Androl
, vol.31
, pp. 376-382
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Tyler-Smith, C.1
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12
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42249095235
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Evolution of the DAZ gene and the AZFc region on primate Y chromosomes
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Yu YH, Lin YW, Yu JF, et al. Evolution of the DAZ gene and the AZFc region on primate Y chromosomes. BMC Evol Biol 2008; 8:96.
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(2008)
BMC Evol Biol
, vol.8
, pp. 96
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Yu, Y.H.1
Lin, Y.W.2
Yu, J.F.3
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13
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34147143610
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The origin and evolution of human ampliconic gene families and ampliconic structure
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Bhowmick BK, Satta Y, Takahata N. The origin and evolution of human ampliconic gene families and ampliconic structure. Genome Res 2007; 17:441-450.
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(2007)
Genome Res
, vol.17
, pp. 441-450
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Bhowmick, B.K.1
Satta, Y.2
Takahata, N.3
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14
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77952568636
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McElreavey K, Chantot-Bastaraud S, Ravel C, et al. Y chromosome and male infertility: what is a normal Y chromosome? J Soc Biol 2008; 202:135-141. The authors highlight the plurality of different Y chromosomes in the human and argue that to correlate the structural diversity to the phenotypic variability encountered is a challenge.
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McElreavey K, Chantot-Bastaraud S, Ravel C, et al. Y chromosome and male infertility: what is a normal Y chromosome? J Soc Biol 2008; 202:135-141. The authors highlight the plurality of different Y chromosomes in the human and argue that to correlate the structural diversity to the phenotypic variability encountered is a challenge.
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16
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33947546526
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Molecular and clinical characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy
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The authors report their experience with a large cohort of infertile men and detail the types of microdeletions found and the clinical correlates
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Ferlin A, Arredi B, Speltra E, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 2007; 92:762-770. The authors report their experience with a large cohort of infertile men and detail the types of microdeletions found and the clinical correlates.
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(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 762-770
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Ferlin, A.1
Arredi, B.2
Speltra, E.3
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17
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1842584994
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Case report: Natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons
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Kuhnert B, Gromoll J, KostovaE, et al. Case report: natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons. Hum Reprod 2004; 19:886-888.
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(2004)
Hum Reprod
, vol.19
, pp. 886-888
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Kuhnert, B.1
Gromoll, J.2
KostovaE3
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18
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0036852977
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Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI
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Dates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod 2002; 17:2813-2824.
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(2002)
Hum Reprod
, vol.17
, pp. 2813-2824
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Dates, R.D.1
Silber, S.2
Brown, L.G.3
Page, D.C.4
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19
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39749137055
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Clinical consequences of microdeletions of the Y chromosome: The extended Munster experience
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Simoni M, Tuttelmann F, Gromoll J, Nieschlag E. Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience. Reprod Biomed Online 2008; 16:289-303.
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(2008)
Reprod Biomed Online
, vol.16
, pp. 289-303
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Simoni, M.1
Tuttelmann, F.2
Gromoll, J.3
Nieschlag, E.4
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20
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44949149115
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Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number
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Mau Kai C, Juul A, McElreavey K, et al. Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number. Hum Reprod 2008; 23:1669-1678.
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(2008)
Hum Reprod
, vol.23
, pp. 1669-1678
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Mau Kai, C.1
Juul, A.2
McElreavey, K.3
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21
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34547745470
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Molecular and cytogenetic investigation of Y chromosome deletions over three generations facilitated by intracytoplasmic sperm injection
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Minor A, Wong EC, Harmer K, Ma S. Molecular and cytogenetic investigation of Y chromosome deletions over three generations facilitated by intracytoplasmic sperm injection. Prenat Diagn 2007; 27:743-747.
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(2007)
Prenat Diagn
, vol.27
, pp. 743-747
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Minor, A.1
Wong, E.C.2
Harmer, K.3
Ma, S.4
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22
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44449113616
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Do we need to search for gr/gr deletions in infertile men in a clinical setting?
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Stouffs K, Tournaye H, Van der Elst J, et al. Do we need to search for gr/gr deletions in infertile men in a clinical setting? Hum Reprod 2008; 23:1193-1199.
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(2008)
Hum Reprod
, vol.23
, pp. 1193-1199
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Stouffs, K.1
Tournaye, H.2
Van der Elst, J.3
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23
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34548070424
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Partial AZFc deletions in infertile men with cryptorchidism
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Giachini C, Nuti F, Marinari E, et al. Partial AZFc deletions in infertile men with cryptorchidism. Hum Reprod 2007; 22:2398-2403.
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(2007)
Hum Reprod
, vol.22
, pp. 2398-2403
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Giachini, C.1
Nuti, F.2
Marinari, E.3
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24
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33846538440
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A physical analysis of the Y chromosome shows no additional deletions, other than Gr/Gr, associated with testicular germ cell tumour
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Linger R, Dudakia D, Hgddart R, et al. A physical analysis of the Y chromosome shows no additional deletions, other than Gr/Gr, associated with testicular germ cell tumour. Br J Cancer 2007; 96:357-361.
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(2007)
Br J Cancer
, vol.96
, pp. 357-361
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Linger, R.1
Dudakia, D.2
Hgddart, R.3
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25
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34447324101
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Zhang F, Lu C, Li Z, 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 2007; 44:437-444. This publication reports that complete AZFc microdeletions may be preceded by gr/gr deletions. It also reminds us that the frequency of partial AZFc deletions varies depending upon the Y haplogroup cohort.
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Zhang F, Lu C, Li Z, 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 2007; 44:437-444. This publication reports that complete AZFc microdeletions may be preceded by gr/gr deletions. It also reminds us that the frequency of partial AZFc deletions varies depending upon the Y haplogroup cohort.
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