-
1
-
-
34147168217
-
Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population
-
Arredi B, Ferlin A, Speltra E, Bedin C, Zuccarello D, et al: Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population. J Med Genet 44:205-208 (2007).
-
(2007)
J Med Genet
, vol.44
, pp. 205-208
-
-
Arredi, B.1
Ferlin, A.2
Speltra, E.3
Bedin, C.4
Zuccarello, D.5
-
2
-
-
0033785321
-
Divergent outcomes of intrachromosomal recombination on the human Y chromosome: Male infertility and recurrent polymorphism
-
Blanco P, Shlumukova M, Sargent CA, Jobling MA, Affara N, Hurles ME: Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J Med Genet 37:752-758 (2000).
-
(2000)
J Med Genet
, vol.37
, pp. 752-758
-
-
Blanco, P.1
Shlumukova, M.2
Sargent, C.A.3
Jobling, M.A.4
Affara, N.5
Hurles, M.E.6
-
3
-
-
34147152346
-
Klinefelter syndrome in clinical practice
-
Bojesen A, Gravholt CH: Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 4:192-204 (2007).
-
(2007)
Nat Clin Pract Urol
, vol.4
, pp. 192-204
-
-
Bojesen, A.1
Gravholt, C.H.2
-
4
-
-
0034994104
-
Neuropsychological profiles of adults with Klinefelter syndrome
-
Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, et al: Neuropsychological profiles of adults with Klinefelter syndrome. J Int Neuropsychol Soc 7:446-456 (2001).
-
(2001)
J Int Neuropsychol Soc
, vol.7
, pp. 446-456
-
-
Boone, K.B.1
Swerdloff, R.S.2
Miller, B.L.3
Geschwind, D.H.4
Razani, J.5
-
5
-
-
0037320728
-
Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility
-
Bosch E, Jobling MA: 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).
-
(2003)
Hum Mol Genet
, vol.12
, pp. 341-347
-
-
Bosch, E.1
Jobling, M.A.2
-
6
-
-
0028304515
-
Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y-specific DNA-sequences
-
Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, et al: Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y-specific DNA-sequences. Clin Endocrinol (Oxf) 40:733-742 (1994).
-
(1994)
Clin Endocrinol (Oxf)
, vol.40
, pp. 733-742
-
-
Boucekkine, C.1
Toublanc, J.E.2
Abbas, N.3
Chaabouni, S.4
Ouahid, S.5
-
7
-
-
6844252248
-
Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene
-
Brown GM, Furlong RA, Sargent CA, Erickson RP, Longepied G, et al: Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. Hum Mol Genet 7:97-107 (1998).
-
(1998)
Hum Mol Genet
, vol.7
, pp. 97-107
-
-
Brown, G.M.1
Furlong, R.A.2
Sargent, C.A.3
Erickson, R.P.4
Longepied, G.5
-
8
-
-
0036062106
-
Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene
-
Calogero AE, Garofalo MR, Barone N, Longo GA, De Palma A, et al: Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene. J Endocrinol Invest 25:631-634 (2002).
-
(2002)
J Endocrinol Invest
, vol.25
, pp. 631-634
-
-
Calogero, A.E.1
Garofalo, M.R.2
Barone, N.3
Longo, G.A.4
De Palma, A.5
-
9
-
-
15244353967
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females
-
Carrel L, Willard HF: X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-404 (2005).
-
(2005)
Nature
, vol.434
, pp. 400-404
-
-
Carrel, L.1
Willard, H.F.2
-
10
-
-
0032757164
-
Y chromosome microdeletion in a father and his four infertile sons
-
Chang PL, Sauer MV, Brown S: Y chromosome microdeletion in a father and his four infertile sons. Hum Reprod 14:2689-2694 (1999).
-
(1999)
Hum Reprod
, vol.14
, pp. 2689-2694
-
-
Chang, P.L.1
Sauer, M.V.2
Brown, S.3
-
11
-
-
23044468281
-
The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells
-
Collier B, Gorgoni B, Loveridge C, Cooke HJ, Gray NK: The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells. EMBO J 24:2656-2666 (2005).
-
(2005)
EMBO J
, vol.24
, pp. 2656-2666
-
-
Collier, B.1
Gorgoni, B.2
Loveridge, C.3
Cooke, H.J.4
Gray, N.K.5
-
12
-
-
43049114970
-
Identification of new breakpoints in AZFb and AZFc
-
Costa P, Gonçalves R, Ferrás C, Fernandes S, Fernandes AT, et al: Identification of new breakpoints in AZFb and AZFc. Mol Hum Reprod 14:251-258 (2008).
-
(2008)
Mol Hum Reprod
, vol.14
, pp. 251-258
-
-
Costa, P.1
Gonçalves, R.2
Ferrás, C.3
Fernandes, S.4
Fernandes, A.T.5
-
13
-
-
0015265706
-
Nature and origin of males with XX sex chromosomes
-
de la Chapelle A: Nature and origin of males with XX sex chromosomes. Am J Hum Genet 24:71-105 (1971).
-
(1971)
Am J Hum Genet
, vol.24
, pp. 71-105
-
-
de la Chapelle, A.1
-
14
-
-
5144219565
-
Assisted reproductive techniques in patients with Klinefelter syndrome: A critical review
-
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C: Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Fertil Steril 82:775-779 (2004).
-
(2004)
Fertil Steril
, vol.82
, pp. 775-779
-
-
Denschlag, D.1
Tempfer, C.2
Kunze, M.3
Wolff, G.4
Keck, C.5
-
15
-
-
5444256749
-
The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control
-
Ditton HJ, Zimmer J, Kamp C, Rajpert-De Meyts E, Vogt PH: The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control. Hum Mol Genet 13:2333-2341 (2004).
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2333-2341
-
-
Ditton, H.J.1
Zimmer, J.2
Kamp, C.3
Rajpert-De Meyts, E.4
Vogt, P.H.5
-
16
-
-
10844225439
-
The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis
-
Elliott DJ: The role of potential splicing factors including RBMY, RBMX, hnRNPG-T and STAR proteins in spermatogenesis. Int J Androl 27:328-334 (2004).
-
(2004)
Int J Androl
, vol.27
, pp. 328-334
-
-
Elliott, D.J.1
-
17
-
-
12644310287
-
Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm
-
Elliott DJ, Millar MR, Oghene K, Ross A, Kiesewetter F, et al: Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc Natl Acad Sci USA 94:3848-3853 (1997).
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 3848-3853
-
-
Elliott, D.J.1
Millar, M.R.2
Oghene, K.3
Ross, A.4
Kiesewetter, F.5
-
18
-
-
0014029835
-
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome
-
Ferguson-Smith MA: X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 2:475-476 (1966).
-
(1966)
Lancet
, vol.2
, pp. 475-476
-
-
Ferguson-Smith, M.A.1
-
19
-
-
0034194140
-
Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility
-
Foresta C, Ferlin A, Moro E: Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum Mol Genet 9:1161-1169 (2000).
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1161-1169
-
-
Foresta, C.1
Ferlin, A.2
Moro, E.3
-
20
-
-
0031913144
-
DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails
-
Habermann B, Mi HF, Edelmann A, Bohring C, Bäckert IT: DAZ (Deleted in AZoospermia) genes encode proteins located in human late spermatids and in sperm tails. Hum Reprod 13:363-369 (1998).
-
(1998)
Hum Reprod
, vol.13
, pp. 363-369
-
-
Habermann, B.1
Mi, H.F.2
Edelmann, A.3
Bohring, C.4
Bäckert, I.T.5
-
21
-
-
0034564094
-
Towards an understanding of the genetics of human male infertility: Lessons from flies
-
Hackstein JH, Hochstenbach R, Pearson PL: Towards an understanding of the genetics of human male infertility: lessons from flies. Trends Genet 16:565-572 (2000).
-
(2000)
Trends Genet
, vol.16
, pp. 565-572
-
-
Hackstein, J.H.1
Hochstenbach, R.2
Pearson, P.L.3
-
22
-
-
44449132717
-
Restricted expression of the human DAZ protein in premeiotic germ cells
-
Huang WJ, Lin YW, Hsiao KN, Eilber KS, Salido EC, Yen PH: Restricted expression of the human DAZ protein in premeiotic germ cells. Hum Reprod 23:1280-1289 (2008).
-
(2008)
Hum Reprod
, vol.23
, pp. 1280-1289
-
-
Huang, W.J.1
Lin, Y.W.2
Hsiao, K.N.3
Eilber, K.S.4
Salido, E.C.5
Yen, P.H.6
-
23
-
-
33747686159
-
A case of human intersexuality having a possible XXY sex-determining mechanism
-
Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-303 (1959).
-
(1959)
Nature
, vol.183
, pp. 302-303
-
-
Jacobs, P.A.1
Strong, J.A.2
-
24
-
-
19944430270
-
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
-
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 76:227-236 (2005).
-
(2005)
Am J Hum Genet
, vol.76
, pp. 227-236
-
-
Jensen, L.R.1
Amende, M.2
Gurok, U.3
Moser, B.4
Gimmel, V.5
-
25
-
-
10344260798
-
Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males
-
Jobling MA, Samara V, Pandya A, Fretwell N, Bernasconi B, et al: Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum Mol Genet 5:1767-1775 (1996).
-
(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
-
26
-
-
9644279865
-
Belle is a Drosophila DEAD-box protein required for viability and in the germ line
-
Johnstone O, Deuring R, Bock R, Linder P, Fuller MT, Lasko P: Belle is a Drosophila DEAD-box protein required for viability and in the germ line. Dev Biol 277:92-101 (2005).
-
(2005)
Dev Biol
, vol.277
, pp. 92-101
-
-
Johnstone, O.1
Deuring, R.2
Bock, R.3
Linder, P.4
Fuller, M.T.5
Lasko, P.6
-
27
-
-
0034641881
-
Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events
-
Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH: Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet 9:2563-2572 (2000).
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2563-2572
-
-
Kamp, C.1
Hirschmann, P.2
Voss, H.3
Huellen, K.4
Vogt, P.H.5
-
28
-
-
0034795056
-
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome
-
Kamp C, Huellen K, Fernandes S, Sousa M, Schlegel PN, et al: High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Mol Hum Reprod 7:987-994 (2001).
-
(2001)
Mol Hum Reprod
, vol.7
, pp. 987-994
-
-
Kamp, C.1
Huellen, K.2
Fernandes, S.3
Sousa, M.4
Schlegel, P.N.5
-
29
-
-
0032924325
-
Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection
-
Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, et al: Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection. Mol Reprod Dev 53:27-41 (1999).
-
(1999)
Mol Reprod Dev
, vol.53
, pp. 27-41
-
-
Kent-First, M.1
Muallem, A.2
Shultz, J.3
Pryor, J.4
Roberts, K.5
-
30
-
-
85003166195
-
Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone
-
Klinefelter HF Jr, Reifenstein EC Jr, Albright F: Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol Metab 2:615-624 (1942).
-
(1942)
J Clin Endocrinol Metab
, vol.2
, pp. 615-624
-
-
Klinefelter Jr, H.F.1
Reifenstein Jr, E.C.2
Albright, F.3
-
31
-
-
33744456276
-
Y chromosome and male infertility: Update, 2006
-
Krausz C, Degl'Innocenti S: Y chromosome and male infertility: update, 2006. Front Biosci 11:3049-3061 (2006).
-
(2006)
Front Biosci
, vol.11
, pp. 3049-3061
-
-
Krausz, C.1
Degl'Innocenti, S.2
-
32
-
-
33748746053
-
Natural transmission of USP9Y gene mutations: A new perspective on the role of AZFa genes in male fertility
-
Krausz C, Degl'Innocenti S, Nuti F, Morelli A, Felici F, et al: Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum Mol Genet 15:2673-2681 (2006).
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2673-2681
-
-
Krausz, C.1
Degl'Innocenti, S.2
Nuti, F.3
Morelli, A.4
Felici, F.5
-
33
-
-
1842584994
-
Case report: Natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons
-
Kuhnert B, Gromoll J, Kostova E, Tschanter P, Luetjens CM, et al: Case report: natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons. Hum Reprod 19:886-888 (2004).
-
(2004)
Hum Reprod
, vol.19
, pp. 886-888
-
-
Kuhnert, B.1
Gromoll, J.2
Kostova, E.3
Tschanter, P.4
Luetjens, C.M.5
-
34
-
-
0035184973
-
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men
-
Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, 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
Skaletsky, H.2
Brown, L.G.3
Minx, P.J.4
Cordum, H.S.5
-
35
-
-
0030725069
-
Functional coherence of the human Y chromosome
-
Lahn BT, Page DC: Functional coherence of the human Y chromosome. Science 278:675-680 (1997).
-
(1997)
Science
, vol.278
, pp. 675-680
-
-
Lahn, B.T.1
Page, D.C.2
-
36
-
-
0037173065
-
Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis
-
Lahn BT, Tang ZL, Zhou J, Barndt RJ, Parvinen M: Previously uncharacterized histone acetyltransferases implicated in mammalian spermatogenesis. Proc Natl Acad Sci USA 99:8707-8712 (2002).
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 8707-8712
-
-
Lahn, B.T.1
Tang, Z.L.2
Zhou, J.3
Barndt, R.J.4
Parvinen, M.5
-
37
-
-
33748940071
-
Dazl can bind to dynein motor complex and may play a role in transport of specific mRNAs
-
Lee KH, Lee S, Kim B, Chang S, Kim SW, et al: Dazl can bind to dynein motor complex and may play a role in transport of specific mRNAs. EMBO J 25:4263-70 (2006).
-
(2006)
EMBO J
, vol.25
, pp. 4263-4270
-
-
Lee, K.H.1
Lee, S.2
Kim, B.3
Chang, S.4
Kim, S.W.5
-
38
-
-
0034764465
-
Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men
-
Lin YM, Chen CW, Sun HS, Tsai SJ, Hsu CC, et al: Expression patterns and transcript concentrations of the autosomal DAZL gene in testes of azoospermic men. Mol Hum Reprod 7:1015-1022 (2001).
-
(2001)
Mol Hum Reprod
, vol.7
, pp. 1015-1022
-
-
Lin, Y.M.1
Chen, C.W.2
Sun, H.S.3
Tsai, S.J.4
Hsu, C.C.5
-
39
-
-
34247599221
-
Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan
-
Lin YW, Hsu LC, Kuo PL, Huang WJ, Chiang HS, 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
Hsu, L.C.2
Kuo, P.L.3
Huang, W.J.4
Chiang, H.S.5
-
40
-
-
0035046095
-
XXY male mice: An experimental model for Klinefelter syndrome
-
Lue Y, Rao PN, Sinha Hikim AP, Im M, Salameh WA, et al: XXY male mice: an experimental model for Klinefelter syndrome. Endocrinology 142:1461-1470 (2001).
-
(2001)
Endocrinology
, vol.142
, pp. 1461-1470
-
-
Lue, Y.1
Rao, P.N.2
Sinha Hikim, A.P.3
Im, M.4
Salameh, W.A.5
-
41
-
-
0016181781
-
Sex chromosome activity in germ cells
-
Lyon MF: Sex chromosome activity in germ cells. Basic Life Sci 4(PART A):63-71 (1974).
-
(1974)
Basic Life Sci 4(PART A)
, pp. 63-71
-
-
Lyon, M.F.1
-
42
-
-
0024572227
-
X-chromosome inactivation as a system of gene dosage compensation to regulate gene expression
-
Lyon MF: X-chromosome inactivation as a system of gene dosage compensation to regulate gene expression. Prog Nucleic Acid Res Mol Biol 36:119-130 (1989).
-
(1989)
Prog Nucleic Acid Res Mol Biol
, vol.36
, pp. 119-130
-
-
Lyon, M.F.1
-
43
-
-
0027715823
-
A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis
-
Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, et al: A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75:1287-1295 (1993).
-
(1993)
Cell
, vol.75
, pp. 1287-1295
-
-
Ma, K.1
Inglis, J.D.2
Sharkey, A.3
Bickmore, W.A.4
Hill, R.E.5
-
44
-
-
6844266287
-
Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities
-
Mahadevaiah SK, Odorisio T, Elliott DJ, Rattigan A, Szot M, et al: Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities. Hum Mol Genet 7:715-727 (1998).
-
(1998)
Hum Mol Genet
, vol.7
, pp. 715-727
-
-
Mahadevaiah, S.K.1
Odorisio, T.2
Elliott, D.J.3
Rattigan, A.4
Szot, M.5
-
45
-
-
0032951805
-
Conventional and molecular cytogenetic identification of a variant Klinefelter syndrome patient with a deleted X chromosome
-
Mark HF, Feldman D, Sigman M: Conventional and molecular cytogenetic identification of a variant Klinefelter syndrome patient with a deleted X chromosome. Pathobiology 67:55-58 (1999).
-
(1999)
Pathobiology
, vol.67
, pp. 55-58
-
-
Mark, H.F.1
Feldman, D.2
Sigman, M.3
-
46
-
-
0036798824
-
Genetic dissection of mammalian fertility pathways
-
Matzuk MM, Lamb DJ: Genetic dissection of mammalian fertility pathways. Nat Cell Biol 4 Suppl:s41-49 (2002).
-
(2002)
Nat Cell Biol
, vol.4
, Issue.SUPPL.
-
-
Matzuk, M.M.1
Lamb, D.J.2
-
47
-
-
0031037973
-
Expression of DAZ , an azoospermia factor candidate, in human spermatogonia
-
Menke DB, Mutter GL, Page DC: Expression of DAZ , an azoospermia factor candidate, in human spermatogonia. Am J Hum Genet 60:237-241 (1997).
-
(1997)
Am J Hum Genet
, vol.60
, pp. 237-241
-
-
Menke, D.B.1
Mutter, G.L.2
Page, D.C.3
-
48
-
-
0029004246
-
Quantified testicular histology in boys with sex chromosome abnormalities
-
Müller J, Skakkebaek NE, Ratcliffe SG: Quantified testicular histology in boys with sex chromosome abnormalities. Int J Androl 18:57-62 (1995).
-
(1995)
Int J Androl
, vol.18
, pp. 57-62
-
-
Müller, J.1
Skakkebaek, N.E.2
Ratcliffe, S.G.3
-
49
-
-
1642423571
-
The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and beta-catenin
-
Murray RZ, Jolly LA, Wood SA: The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and beta-catenin. Mol Biol Cell 15:1591-1599 (2004).
-
(2004)
Mol Biol Cell
, vol.15
, pp. 1591-1599
-
-
Murray, R.Z.1
Jolly, L.A.2
Wood, S.A.3
-
50
-
-
0012315579
-
-
Cold Spring Harbour Laboratory Press, New York
-
Nagy A, Gertsenstein M, Vintersten K, Behringer R: Manipulating the Mouse Embryo: A Laboratory Manual, pp 43 (Cold Spring Harbour Laboratory Press, New York 2003).
-
(2003)
Manipulating the Mouse Embryo: A Laboratory Manual
, pp. 43
-
-
Nagy, A.1
Gertsenstein, M.2
Vintersten, K.3
Behringer, R.4
-
51
-
-
0016811861
-
Incidence of chromosome aberrations among 11,148 newborn children
-
Nielsen J, Sillesen I: Incidence of chromosome aberrations among 11,148 newborn children. Humangenetik 30:1-12 (1975).
-
(1975)
Humangenetik
, vol.30
, pp. 1-12
-
-
Nielsen, J.1
Sillesen, I.2
-
52
-
-
42449135444
-
Gene polymorphisms/mutations relevant to abnormal spermatogenesis
-
Nuti F, Krausz C: Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online 16:504-513 (2008).
-
(2008)
Reprod Biomed Online
, vol.16
, pp. 504-513
-
-
Nuti, F.1
Krausz, C.2
-
53
-
-
2142808110
-
Curt Stern Award address. On low expectation exceeded; or, the genomic salvation of the Y chromosome
-
Page DC:2003 Curt Stern Award address. On low expectation exceeded; or, the genomic salvation of the Y chromosome. Am J Hum Genet 74:399-402 (2004).
-
(2003)
Am J Hum Genet
, vol.74
, pp. 399-402
-
-
Page, D.C.1
-
54
-
-
0023263601
-
Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males
-
Page DC, Brown LG, de la Chapelle A: Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males. Nature 328:437-440 (1987).
-
(1987)
Nature
, vol.328
, pp. 437-440
-
-
Page, D.C.1
Brown, L.G.2
de la Chapelle, A.3
-
55
-
-
0029088061
-
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
-
Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, et al: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 10:383-393 (1995).
-
(1995)
Nat Genet
, vol.10
, pp. 383-393
-
-
Reijo, R.1
Lee, T.Y.2
Salo, P.3
Alagappan, R.4
Brown, L.G.5
-
56
-
-
0033756262
-
DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice
-
Reijo R, Dorfman DM, Slee R, Renshaw AA, Loughlin KR, et al: DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. Biol Reprod 63:1490-1496 (2000).
-
(2000)
Biol Reprod
, vol.63
, pp. 1490-1496
-
-
Reijo, R.1
Dorfman, D.M.2
Slee, R.3
Renshaw, A.A.4
Loughlin, K.R.5
-
57
-
-
0036782130
-
Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure
-
Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, 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
Skaletsky, H.2
Lange, J.3
Silber, S.4
Van Der Veen, F.5
-
58
-
-
11944268632
-
Role of the DAZ genes in male fertility
-
Reynolds N, Cooke HJ: Role of the DAZ genes in male fertility. Reprod Biomed Online 10:72-80 (2005).
-
(2005)
Reprod Biomed Online
, vol.10
, pp. 72-80
-
-
Reynolds, N.1
Cooke, H.J.2
-
59
-
-
15244363491
-
The DNA sequence of the human X chromosome
-
Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, et al: The DNA sequence of the human X chromosome. Nature 434:325-337 (2005).
-
(2005)
Nature
, vol.434
, pp. 325-337
-
-
Ross, M.T.1
Grafham, D.V.2
Coffey, A.J.3
Scherer, S.4
McLay, K.5
-
61
-
-
0032854078
-
The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences
-
Sargent CA, Boucher CA, Kirsch S, Brown G, Weiss B, et al: The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. J Med Genet 36:670-677 (1999).
-
(1999)
J Med Genet
, vol.36
, pp. 670-677
-
-
Sargent, C.A.1
Boucher, C.A.2
Kirsch, S.3
Brown, G.4
Weiss, B.5
-
62
-
-
0034253627
-
Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome
-
Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, et al: Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67:256-267 (2000).
-
(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
-
63
-
-
3142664681
-
Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility
-
Shinka T, Sato Y, Chen G, Naroda T, Kinoshita K: Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility. Biol Reprod 71:297-306 (2004).
-
(2004)
Biol Reprod
, vol.71
, pp. 297-306
-
-
Shinka, T.1
Sato, Y.2
Chen, G.3
Naroda, T.4
Kinoshita, K.5
-
64
-
-
0031024316
-
Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia
-
Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, et al: Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 67:542-547 (1997).
-
(1997)
Fertil Steril
, vol.67
, pp. 542-547
-
-
Simoni, M.1
Gromoll, J.2
Dworniczak, B.3
Rolf, C.4
Abshagen, K.5
-
65
-
-
4043092052
-
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004
-
Simoni M, Bakker E, Krausz C: EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004. Int J Androl 27:240-249 (2004).
-
(2004)
Int J Androl
, vol.27
, pp. 240-249
-
-
Simoni, M.1
Bakker, E.2
Krausz, C.3
-
66
-
-
0032145029
-
Human sex determination
-
Sinclair AH: Human sex determination. J Exp Zool 281:501-505 (1998).
-
(1998)
J Exp Zool
, vol.281
, pp. 501-505
-
-
Sinclair, A.H.1
-
67
-
-
0037967242
-
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
-
Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, 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
Kuroda-Kawaguchi, T.2
Minx, P.J.3
Cordum, H.S.4
Hillier, L.5
-
68
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz P, Lupski JR: Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82 (2002).
-
(2002)
Trends Genet
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
69
-
-
1042303661
-
Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis
-
Stouffs K, Lissens W, Verheyen G, Van Landuyt L, Goossens A: Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis. Mol Hum Reprod 10:15-21 (2004).
-
(2004)
Mol Hum Reprod
, vol.10
, pp. 15-21
-
-
Stouffs, K.1
Lissens, W.2
Verheyen, G.3
Van Landuyt, L.4
Goossens, A.5
-
70
-
-
0032727618
-
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y
-
Sun C, Skaletsky H, Birren B, Devon K, Tang Z, et al: An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 23:429-432 (1999).
-
(1999)
Nat Genet
, vol.23
, pp. 429-432
-
-
Sun, C.1
Skaletsky, H.2
Birren, B.3
Devon, K.4
Tang, Z.5
-
71
-
-
0034703178
-
Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses
-
Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, et al: Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 9:2291-2296 (2000).
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2291-2296
-
-
Sun, C.1
Skaletsky, H.2
Rozen, S.3
Gromoll, J.4
Nieschlag, E.5
-
72
-
-
0017119580
-
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
-
Tiepolo L, Zuffardi O: Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34:119-124 (1976).
-
(1976)
Hum Genet
, vol.34
, pp. 119-124
-
-
Tiepolo, L.1
Zuffardi, O.2
-
73
-
-
0041914418
-
Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility
-
Tse JY, Wong EY, Cheung AN, O WS, Tam PC, Yeung WS: Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility. Biol Reprod 69:746-751 (2003).
-
(2003)
Biol Reprod
, vol.69
, pp. 746-751
-
-
Tse, J.Y.1
Wong, E.Y.2
Cheung, A.N.3
WS, O.4
Tam, P.C.5
Yeung, W.S.6
-
74
-
-
34248156426
-
Klinefelter syndrome and other sex chromosomal aneuploidies
-
Visootsak J, Graham JM Jr: Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1:42 (2006).
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 42
-
-
Visootsak, J.1
Graham Jr, J.M.2
-
75
-
-
21244439839
-
AZF deletions and Y chromosomal haplogroups: History and update based on sequence
-
Vogt PH: AZF deletions and Y chromosomal haplogroups: history and update based on sequence. Hum Reprod Update 11:319-336 (2005).
-
(2005)
Hum Reprod Update
, vol.11
, pp. 319-336
-
-
Vogt, P.H.1
-
76
-
-
0007272350
-
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
-
Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, et al: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933-943 (1996).
-
(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
-
77
-
-
34548776061
-
Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients
-
Vorona E, Zitzmann M, Gromoll J, Schuring AN, Nieschlag E: Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocr Metab 92:3458-3465 (2007).
-
(2007)
J Clin Endocr Metab
, vol.92
, pp. 3458-3465
-
-
Vorona, E.1
Zitzmann, M.2
Gromoll, J.3
Schuring, A.N.4
Nieschlag, E.5
-
78
-
-
0029092140
-
Human H-Y: A male-specific histocompatibility antigen derived from the SMCY protein
-
Wang W, Meadows LR, den Haan JM, Sherman NE, Chen Y, et al: Human H-Y: a male-specific histocompatibility antigen derived from the SMCY protein. Science 269:1588-1590 (1995).
-
(1995)
Science
, vol.269
, pp. 1588-1590
-
-
Wang, W.1
Meadows, L.R.2
den Haan, J.M.3
Sherman, N.E.4
Chen, Y.5
-
79
-
-
1242345152
-
Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein
-
Wong EY, Tse JY, Yao KM, Lui VC, Tam PC, Yeung WS: Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein. Biol Reprod 70:775-784 (2004).
-
(2004)
Biol Reprod
, vol.70
, pp. 775-784
-
-
Wong, E.Y.1
Tse, J.Y.2
Yao, K.M.3
Lui, V.C.4
Tam, P.C.5
Yeung, W.S.6
-
80
-
-
55749103957
-
Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest
-
Epub ahead of print
-
Yang Y, Ma MY, Xiao CY, Li L, Li SW, Zhang SZ: Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. Int J Androl: Epub ahead of print (2007).
-
(2007)
Int J Androl
-
-
Yang, Y.1
Ma, M.Y.2
Xiao, C.Y.3
Li, L.4
Li, S.W.5
Zhang, S.Z.6
-
81
-
-
2642575091
-
Putative biological functions of the DAZ family
-
Yen PH: Putative biological functions of the DAZ family. Int J Androl 27:125-129 (2004).
-
(2004)
Int J Androl
, vol.27
, pp. 125-129
-
-
Yen, P.H.1
-
82
-
-
10344248169
-
X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients
-
Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E: X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Clin Endocrinol Metab 89:6208-6217 (2004).
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 6208-6217
-
-
Zitzmann, M.1
Depenbusch, M.2
Gromoll, J.3
Nieschlag, E.4
|