-
1
-
-
0037072099
-
Female subfertility
-
DOI 10.1016/S0140-6736(02)09417-5
-
Evers JL. Female subfertility. Lancet 2002; 360: 151-9. (Pubitemid 34786208)
-
(2002)
Lancet
, vol.360
, Issue.9327
, pp. 151-159
-
-
Evers, J.L.H.1
-
2
-
-
66749114978
-
Evian Annual Reproduction (EVAR) Workshop Group 2008 Approaches to improve the diagnosis and management of infertility
-
Devroey P, Fauser BC, Diedrich K; Evian Annual Reproduction (EVAR) Workshop Group 2008 Approaches to improve the diagnosis and management of infertility. Hum Reprod Update 2009; 15: 391-408.
-
(2009)
Hum Reprod Update
, vol.15
, pp. 391-408
-
-
Devroey, P.1
Fauser, B.C.2
Diedrich, K.3
-
3
-
-
79952545010
-
Male infertility: Pathogenesis and clinical diagnosis
-
Krausz C. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab 2011; 25: 271-85.
-
(2011)
Best Pract Res Clin Endocrinol Metab
, vol.25
, pp. 271-85
-
-
Krausz, C.1
-
4
-
-
34250788800
-
Male infertility: Role of genetic background
-
Ferlin A, Raicu F, Gatta V, Zuccarello D, Palka G et al. Male infertility: role of genetic background. Reprod Biomed Online 2007; 14: 734-45. (Pubitemid 46951709)
-
(2007)
Reproductive BioMedicine Online
, vol.14
, Issue.6
, pp. 734-745
-
-
Ferlin, A.1
Raicu, F.2
Gatta, V.3
Zuccarello, D.4
Palka, G.5
Foresta, C.6
-
5
-
-
77749240212
-
Clinical review: State of the art for genetic testing of infertile men
-
McLachlan RI, O'Bryan MK. Clinical review: state of the art for genetic testing of infertile men. J Clin Endocrinol Metab 2010; 95: 1013-24.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 1013-24
-
-
McLachlan, R.I.1
O'Bryan, M.K.2
-
6
-
-
0030317035
-
Cytogenetics of infertile men
-
van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G et al. Cytogenetics of infertile men. Hum Reprod 1996; 11 Suppl 4: 1-24. (Pubitemid 126523281)
-
(1996)
Human Reproduction
, vol.11
, Issue.SUPPL. 4
, pp. 1-24
-
-
Van Assche, E.1
Bonduelle, M.2
Tournaye, H.3
Joris, H.4
Verheyen, G.5
Devroey, P.6
Van Steirteghem, A.7
Liebaers, I.8
-
7
-
-
12244292692
-
Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection
-
Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 2005; 90: 152-66.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 152-66
-
-
Foresta, C.1
Garolla, A.2
Bartoloni, L.3
Bettella, A.4
Ferlin, A.5
-
8
-
-
76749101885
-
Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?
-
Fullerton G, Hamilton M, Maheshwari A. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Hum Reprod 2010; 25: 588-97.
-
(2010)
Hum Reprod
, vol.25
, pp. 588-97
-
-
Fullerton, G.1
Hamilton, M.2
Maheshwari, A.3
-
9
-
-
68949202936
-
Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients
-
Sciurano RB, Luna Hisano CV, Rahn MI, Brugo Olmedo S, Rey Valzacchi G et al. Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod 2009; 24: 2353-60.
-
(2009)
Hum Reprod
, vol.24
, pp. 2353-60
-
-
Sciurano, R.B.1
Luna Hisano, C.V.2
Rahn, M.I.3
Brugo Olmedo, S.4
Rey Valzacchi, G.5
-
10
-
-
0033951072
-
Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: Comparison with fertile and infertile males with normal karyotype
-
Rives N, Joly G, Machy A, Siméon N, Leclerc P et al. Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype. Mol Hum Reprod 2000; 6: 107-12. (Pubitemid 30094273)
-
(2000)
Molecular Human Reproduction
, vol.6
, Issue.2
, pp. 107-112
-
-
Rives, N.1
Joly, G.2
Machy, A.3
Simeon, N.4
Leclerc, P.5
Mace, B.6
-
11
-
-
0033765661
-
Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter's syndrome
-
Levron J, Aviram-Goldring A, Madgar I, Raviv G, Barkai G et al. Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter's syndrome. Fertil Steril 2000; 74: 925-29.
-
(2000)
Fertil Steril
, vol.74
, pp. 925-29
-
-
Levron, J.1
Aviram-Goldring, A.2
Madgar, I.3
Raviv, G.4
Barkai, G.5
-
13
-
-
0026849360
-
Towards the molecular localisation of the AZF locus: Mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human y chromosome
-
Ma K, Sharkey A, Kirsch S, Vogt P, Keil R et al. Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet 1992; 1: 29-33.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 29-33
-
-
Ma, K.1
Sharkey, A.2
Kirsch, S.3
Vogt, P.4
Keil, R.5
-
14
-
-
62549109552
-
Copy number variation on the human y chromosome
-
Jobling MA. Copy number variation on the human Y chromosome. Cytogenet Genome Res 2008; 123: 253-62.
-
(2008)
Cytogenet Genome Res
, vol.123
, pp. 253-62
-
-
Jobling, M.A.1
-
15
-
-
4043092052
-
EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004
-
DOI 10.1111/j.1365-2605.2004.00495.x
-
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 2004; 27: 240-9. (Pubitemid 39062086)
-
(2004)
International Journal of Andrology
, vol.27
, Issue.4
, pp. 240-249
-
-
Simoni, M.1
Bakker, E.2
Krausz, C.3
-
16
-
-
0033803789
-
Prognostic value of y deletion analysis: What is the clinical prognostic value of y chromosome microdeletion analysis?
-
Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod 2000; 15: 1431-4.
-
(2000)
Hum Reprod
, vol.15
, pp. 1431-4
-
-
Krausz, C.1
Quintana-Murci, L.2
McElreavey, K.3
-
17
-
-
77956897999
-
Complete deletion of the AZFb interval from the y chromosome in an oligozoospermic man
-
Longepied G, Saut N, Aknin-Seifer I, Levy R, Frances AM et al. Complete deletion of the AZFb interval from the Y chromosome in an oligozoospermic man. Hum Reprod 2010; 25: 2655-63.
-
(2010)
Hum Reprod
, vol.25
, pp. 2655-63
-
-
Longepied, G.1
Saut, N.2
Aknin-Seifer, I.3
Levy, R.4
Frances, A.M.5
-
18
-
-
21644483723
-
The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion
-
DOI 10.1093/humrep/deh847
-
Stouffs K, Lissens W, Tournaye H, van Steirteghem A, Liebaers I. The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion. Hum Reprod 2005; 20: 1887-96. (Pubitemid 40932373)
-
(2005)
Human Reproduction
, vol.20
, Issue.7
, pp. 1887-1896
-
-
Stouffs, K.1
Lissens, W.2
Tournaye, H.3
Van Steirteghem, A.4
Liebaers, I.5
-
19
-
-
37349032124
-
Gene polymorphisms and male infertility-A meta-analysis and literature review
-
Tü ttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M. Gene polymorphisms and male infertility-a meta-analysis and literature review.Reprod Biomed Online 2007; 15: 643-58.
-
(2007)
Reprod Biomed Online
, vol.15
, pp. 643-58
-
-
Tü Ttelmann F, R.1
-
20
-
-
70349454102
-
Y chromosome gr/gr deletions are a risk factor for low semen quality
-
Visser L, Westerveld GH, Korver CM, van Daalen SK, Hovingh SE. Y chromosome gr/gr deletions are a risk factor for low semen quality. Hum Reprod 2009; 24: 2667-73.
-
(2009)
Hum Reprod
, vol.24
, pp. 2667-73
-
-
Visser, L.1
Westerveld, G.H.2
Korver, C.M.3
Van Daalen, S.K.4
Hovingh, S.E.5
-
21
-
-
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 2011; 17: 197-209.
-
(2011)
Hum Reprod Update
, vol.17
, pp. 197-209
-
-
Stouffs, K.1
Lissens, W.2
Tournaye, H.3
Haentjens, P.4
-
22
-
-
77955636758
-
The AZFc region of the y chromosome: At the crossroads between genetic diversity and male infertility
-
Navarro-Costa P, Gonçalves J, Plancha CE. The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum Reprod Update 2010; 16: 525-42.
-
(2010)
Hum Reprod Update
, vol.16
, pp. 525-42
-
-
Navarro-Costa, P.1
Gonçalves, J.2
Plancha, C.E.3
-
23
-
-
35348934239
-
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
-
DOI 10.1086/521314
-
Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS et al. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet 2007; 81: 813-20. (Pubitemid 47596548)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.4
, pp. 813-820
-
-
Dam, A.H.D.M.1
Koscinski, I.2
Kremer, J.A.M.3
Moutou, C.4
Jaeger, A.-S.5
Oudakker, A.R.6
Tournaye, H.7
Charlet, N.8
Lagier-Tourenne, C.9
Van Bokhoven, H.10
Viville, S.11
-
24
-
-
77954402627
-
A newly discovered mutation in PICK1 in a human with globozoospermia
-
Liu G, Shi QW, Lu GX. A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl 2010; 12: 556-60.
-
(2010)
Asian J Androl
, vol.12
, pp. 556-60
-
-
Liu, G.1
Shi, Q.W.2
Lu, G.X.3
-
25
-
-
30444450544
-
Gene functional research using polyethylenimine-mediated in vivo gene transfection into mouse spermatogenic cells
-
DOI 10.1111/j.1745-7262.2006.00089.x
-
Lu L, Lin M, Xu M, Zhou ZM, Sha JH. Gene functional research using polyethylenimine-mediated in vivo gene transfection into mouse spermatogenic cells. Asian J Androl 2006; 8: 53-9. (Pubitemid 43072143)
-
(2006)
Asian Journal of Andrology
, vol.8
, Issue.1
, pp. 53-59
-
-
Lu, L.1
Lin, M.2
Xu, M.3
Zhou, Z.-M.4
Sha, J.-H.5
-
26
-
-
65249113764
-
PICK1 deficiency causes male infertility in mice by disrupting acrosome formation
-
Xiao N, Kam C, Shen C, Jin W, Wang J et al. PICK1 deficiency causes male infertility in mice by disrupting acrosome formation. J Clin Invest 2009; 119: 802-12.
-
(2009)
J Clin Invest
, vol.119
, pp. 802-12
-
-
Xiao, N.1
Kam, C.2
Shen, C.3
Jin, W.4
Wang, J.5
-
27
-
-
79952469179
-
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation
-
Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet 2011; 88: 351-61.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 351-61
-
-
Harbuz, R.1
Zouari, R.2
Pierre, V.3
Ben Khelifa, M.4
Kharouf, M.5
-
28
-
-
79952460642
-
DPY19L2 deletion as a major cause of globozoospermia
-
Koscinski I, Elinati E, Fossard C, Redin C, Muller J et al. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet 2011; 88: 344-50.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 344-50
-
-
Koscinski, I.1
Elinati, E.2
Fossard, C.3
Redin, C.4
Muller, J.5
-
29
-
-
34247598906
-
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
-
DOI 10.1038/ng2027, PII NG2027
-
Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B et al. Homozygous mutation of AURKC yields large-headed polyploidspermatozoa and causes male infertility. Nat Genet 2007; 39: 661-5. (Pubitemid 46676111)
-
(2007)
Nature Genetics
, vol.39
, Issue.5
, pp. 661-665
-
-
Dieterich, K.1
Soto Rifo, R.2
Karen Faure, A.3
Hennebicq, S.4
Amar, B.B.5
Zahi, M.6
Perrin, J.7
Martinez, D.8
Sele, B.9
Jouk, P.-S.10
Ohlmann, T.11
Rousseaux, S.12
Lunardi, J.13
Ray, P.F.14
-
30
-
-
63149112694
-
The Aurora Kinase C c.144delC mutation causes meiosis i arrest in men and is frequent in the North African population
-
Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D et al. The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. Hum Mol Genet 2009; 18: 1301-9.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1301-9
-
-
Dieterich, K.1
Zouari, R.2
Harbuz, R.3
Vialard, F.4
Martinez, D.5
-
31
-
-
79951943736
-
A comprehensive gene mutation screen in men with asthenozoospermia
-
Visser L, Westerveld GH, Xie F, van Daalen SK, van der Veen F et al. A comprehensive gene mutation screen in men with asthenozoospermia. Fertil Steril 2011; 95: 1020-4.
-
(2011)
Fertil Steril
, vol.95
, pp. 1020-4
-
-
Visser, L.1
Westerveld, G.H.2
Xie, F.3
Van Daalen, S.K.4
Van Der Veen, F.5
-
32
-
-
27144544743
-
Gene deletions in an infertile man with sperm fibrous sheath dysplasia
-
DOI 10.1093/humrep/dei126
-
Baccetti B, Collodel G, Estenoz M, Manca D, Moretti E et al. Gene deletions in an infertile man with sperm fibrous sheath dysplasia. Hum Reprod 2005; 20: 2790-4. (Pubitemid 41487635)
-
(2005)
Human Reproduction
, vol.20
, Issue.10
, pp. 2790-2794
-
-
Baccetti, B.1
Collodel, G.2
Estenoz, M.3
Manca, D.4
Moretti, E.5
Piomboni, P.6
-
33
-
-
10744230413
-
CATSPER2, a human autosomal nonsyndromic male infertility gene
-
DOI 10.1038/sj.ejhg.5200991
-
Avidan N, Tamary H, Dgany O, Cattan D, Pariente A et al. CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet 2003; 11: 497-502. (Pubitemid 36896577)
-
(2003)
European Journal of Human Genetics
, vol.11
, Issue.7
, pp. 497-502
-
-
Avidan, N.1
Tamary, H.2
Dgany, O.3
Cattan, D.4
Pariente, A.5
Thulliez, M.6
Borot, N.7
Moati, L.8
Barthelme, A.9
Shalmon, L.10
Krasnov, T.11
Ben-Asher, E.12
Olender, T.13
Khen, M.14
Yaniv, I.15
Zaizov, R.16
Shalev, H.17
Delaunay, J.18
Fellous, M.19
Lancet, D.20
Beckmann, J.S.21
more..
-
34
-
-
34247133469
-
Sensorineural deafness and male infertility: A contiguous gene deletion syndrome
-
DOI 10.1136/jmg.2006.045765
-
Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M et al. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet 2007; 44: 233-40. (Pubitemid 46596436)
-
(2007)
Journal of Medical Genetics
, vol.44
, Issue.4
, pp. 233-240
-
-
Zhang, Y.1
Malekpour, M.2
Al-Madani, N.3
Kahrizi, K.4
Zanganeh, M.5
Mohseni, M.6
Mojahedi, F.7
Daneshi, A.8
Najmabadi, H.9
Smith, R.J.H.10
-
35
-
-
64149122420
-
Human male infertility caused by mutations in the CATSPER1 channel protein
-
Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL et al. Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet 2009; 84: 505-10.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 505-10
-
-
Avenarius, M.R.1
Hildebrand, M.S.2
Zhang, Y.3
Meyer, N.C.4
Smith, L.L.5
-
36
-
-
0344983426
-
Azoospermia in patients heterozygous for a mutation in SYCP3
-
DOI 10.1016/S0140-6736(03)14845-3
-
Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M et al. Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet 2003; 362: 1714-9. (Pubitemid 37468322)
-
(2003)
Lancet
, vol.362
, Issue.9397
, pp. 1714-1719
-
-
Miyamoto, T.1
Hasuike, S.2
Yogev, L.3
Maduro, M.R.4
Ishikawa, M.5
Westphal, H.6
Lamb, D.J.7
-
37
-
-
26244453710
-
SYCP3 mutations are uncommon in patients with azoospermia
-
DOI 10.1016/j.fertnstert.2005.04.033, PII S0015028205012409
-
Stouffs K, Lissens W, Tournaye H, van Steirteghem A, Liebaers I. SYCP3 mutations are uncommon in patients with azoospermia. Fertil Steril 2005; 84: 1019-20. (Pubitemid 41414599)
-
(2005)
Fertility and Sterility
, vol.84
, Issue.4
, pp. 1019-1020
-
-
Stouffs, K.1
Lissens, W.2
Tournaye, H.3
Van Steirteghem, A.4
Liebaers, I.5
-
38
-
-
34848901681
-
Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest
-
DOI 10.1016/j.fertnstert.2006.11.163, PII S001502820604725X
-
Martínez J, Bonache S, Carvajal A, Bassas L, Larriba S. Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest. Fertil Steril 2007; 88: 988-9. (Pubitemid 47498352)
-
(2007)
Fertility and Sterility
, vol.88
, Issue.4
, pp. 988-989
-
-
Martinez, J.1
Bonache, S.2
Carvajal, A.3
Bassas, L.4
Larriba, S.5
-
39
-
-
78650512647
-
Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages
-
Stouffs K, Vandermaelen D, Tournaye H, Liebaers I, Lissens W. Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages. Reprod Biomed Online 2011; 22: 65-71.
-
(2011)
Reprod Biomed Online
, vol.22
, pp. 65-71
-
-
Stouffs, K.1
Vandermaelen, D.2
Tournaye, H.3
Liebaers, I.4
Lissens, W.5
-
40
-
-
58149133511
-
Mutations of the SYCP3 gene in women with recurrent pregnancy loss
-
Bolor H, Mori T, Nishiyama S, Ito Y, Hosoba E et al. Mutations of the SYCP3 gene in women with recurrent pregnancy loss. Am J Hum Genet 2009; 84: 14-20.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 14-20
-
-
Bolor, H.1
Mori, T.2
Nishiyama, S.3
Ito, Y.4
Hosoba, E.5
-
41
-
-
33646857712
-
The role of the testis-specific gene hTAF7L in the aetiology of male infertility
-
DOI 10.1093/molehr/gal020
-
Stouffs K, Willems A, Lissens W, Tournaye H, van Steirteghem A et al. The role of the testis-specific gene TAF7L in the etiology of male infertility. Mol Hum Reprod 2006; 12: 263-7. (Pubitemid 43779078)
-
(2006)
Molecular Human Reproduction
, vol.12
, Issue.4
, pp. 263-267
-
-
Stouffs, K.1
Willems, A.2
Lissens, W.3
Tournaye, H.4
Van Steirteghem, A.5
Liebaers, I.6
-
42
-
-
35348898408
-
Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure
-
DOI 10.1111/j.1439-0272.2007.00789.x
-
Akinloye O, Gromoll J, Callies C, Nieschlag E, Simoni M. Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure. Andrologia 2007; 39: 190-5. (Pubitemid 351547011)
-
(2007)
Andrologia
, vol.39
, Issue.5
, pp. 190-195
-
-
Akinloye, O.1
Gromoll, J.2
Callies, C.3
Nieschlag, E.4
Simoni, M.5
-
43
-
-
0038325615
-
The intracellular localisation of TAF7L, a paralogue of transcription factor TFIID subunit TAF7, is developmentally regulated during male germ-cell differentiation
-
DOI 10.1242/jcs.00391
-
Pointud JC, Mengus G, Brancorsini S, Monaco L, Parvinen M et al. The intracellular localisation of TAF7L, a paralogue of transcription factor TFIID subunit TAF7, is developmentally regulated during male germ-cell differentiation. J Cell Sci 2003; 116: 1847-58. (Pubitemid 36582171)
-
(2003)
Journal of Cell Science
, vol.116
, Issue.9
, pp. 1847-1858
-
-
Pointud, J.-C.1
Mengus, G.2
Brancorsini, S.3
Monaco, L.4
Parvinen, M.5
Sassone-Corsi, P.6
Davidson, I.7
-
44
-
-
34147201449
-
Abnormal sperm in mice lacking the Taf7l gene
-
DOI 10.1128/MCB.01722-06
-
Cheng Y, Buffone MG, Kouadio M, Goodheart M, Page DC et al. Abnormal sperm in mice lacking the Taf7l gene. Mol Cell Biol 2007; 27: 2582-9. (Pubitemid 46581349)
-
(2007)
Molecular and Cellular Biology
, vol.27
, Issue.7
, pp. 2582-2589
-
-
Cheng, Y.1
Buffone, M.G.2
Kouadio, M.3
Goodheart, M.4
Page, D.C.5
Gerton, G.L.6
Davidson, I.7
Wang, P.J.8
-
45
-
-
33745446478
-
Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest
-
DOI 10.1007/s10038-006-0394-5
-
Sato H, Miyamoto T, Yogev L, Namiki M, Koh E et al. Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest. J Hum Genet 2006; 51: 533-40. (Pubitemid 43954302)
-
(2006)
Journal of Human Genetics
, vol.51
, Issue.6
, pp. 533-540
-
-
Sato, H.1
Miyamoto, T.2
Yogev, L.3
Namiki, M.4
Koh, E.5
Hayashi, H.6
Sasaki, Y.7
Ishikawa, M.8
Lamb, D.J.9
Matsumoto, N.10
Birk, O.S.11
Niikawa, N.12
Sengoku, K.13
-
46
-
-
0346690408
-
Positional cloning and characterization of Mei1, a vertebrate-specific gene required for normal meiotic chromosome synapsis in mice
-
DOI 10.1073/pnas.2432067100
-
Libby BJ, Reinholdt LG, Schimenti JC. Positional cloning and characterization of Mei1, a vertebrate-specific gene required for normal meiotic chromosome synapsis in mice. Proc Natl Acad Sci USA 2003; 100: 15706-11. (Pubitemid 38021054)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.26
, pp. 15706-15711
-
-
Libby, B.J.1
Reinholdt, L.G.2
Schimenti, J.C.3
-
47
-
-
0033975302
-
The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility
-
Yuan L, Liu JG, Zhao J, Brundell E, Daneholt B et al. The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility. Mol Cell 2000; 5: 73-83. (Pubitemid 30105437)
-
(2000)
Molecular Cell
, vol.5
, Issue.1
, pp. 73-83
-
-
Yuan, L.1
Liu, J.-G.2
Zhao, J.3
Brundell, E.4
Daneholt, B.5
Hoog, C.6
-
48
-
-
0035849145
-
Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility [7]
-
DOI 10.1056/NEJM200104123441517
-
Bezold G, Lange M, Peter RU. Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility. N Engl J Med 2001; 344: 1172-3. (Pubitemid 32285246)
-
(2001)
New England Journal of Medicine
, vol.344
, Issue.15
, pp. 1172-1173
-
-
Bezold, G.1
Lange, M.2
Peter, R.U.3
-
49
-
-
0242298320
-
Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection
-
DOI 10.1038/ng1250
-
Repping S, Skaletsky H, Brown L van Daalen SK, Korver CM 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 2003; 35: 247-51. (Pubitemid 37363178)
-
(2003)
Nature Genetics
, vol.35
, Issue.3
, pp. 247-251
-
-
Repping, S.1
Skaletsky, H.2
Brown, L.3
Van Daalen, S.K.M.4
Korver, C.M.5
Pyntikova, T.6
Kuroda-Kawaguchi, T.7
De Vries, J.W.A.8
Oates, R.D.9
Silber, S.10
Van Der Veen, F.11
Page, D.C.12
Rozen, S.13
-
50
-
-
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, Zhang J, Li Y, Xia Y, Zhang F 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 2009; 18: 1122-30.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1122-30
-
-
Lu, C.1
Zhang, J.2
Li, Y.3
Xia, Y.4
Zhang, F.5
-
51
-
-
77956281057
-
Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population
-
Yang Y, Ma M, Li L, Su D, Chen P et al. Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population. Int J Androl 2010; 33: 745-54.
-
(2010)
Int J Androl
, vol.33
, pp. 745-54
-
-
Yang, Y.1
Ma, M.2
Li, L.3
Su, D.4
Chen, P.5
-
52
-
-
71949114942
-
Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia
-
Aston KI, Carrell DT. Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 2009; 30: 711-25.
-
(2009)
J Androl
, vol.30
, pp. 711-25
-
-
Aston, K.I.1
Carrell, D.T.2
-
53
-
-
77952863794
-
Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent
-
Aston KI, Krausz C, Laface I, Ruiz-Castané E, Carrell DT. Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod 2010; 6: 1383-97.
-
(2010)
Hum Reprod
, vol.6
, pp. 1383-97
-
-
Aston, K.I.1
Krausz, C.2
Laface, I.3
Ruiz-Castané, E.4
Carrell, D.T.5
-
54
-
-
78149429222
-
Identification of de novo copy number variants associated with human disorders of sexual development
-
Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S et al. Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One 2010; 5: e15392.
-
(2010)
PLoS One
, vol.5
-
-
Tannour-Louet, M.1
Han, S.2
Corbett, S.T.3
Louet, J.F.4
Yatsenko, S.5
-
55
-
-
77956897397
-
Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm
-
Navarro-Costa P, Nogueira P, Carvalho M, Leal F, Cordeiro I et al. Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm. Hum Reprod 2010; 25: 2647-54.
-
(2010)
Hum Reprod
, vol.25
, pp. 2647-54
-
-
Navarro-Costa, P.1
Nogueira, P.2
Carvalho, M.3
Leal, F.4
Cordeiro, I.5
-
56
-
-
79956339040
-
Abnormal methylation of the promoter of CREM is broadly associated with male factor infertility and poor sperm quality but is improved in sperm selected by density gradient centrifugation
-
Nanassy L, Carrell DT. Abnormal methylation of the promoter of CREM is broadly associated with male factor infertility and poor sperm quality but is improved in sperm selected by density gradient centrifugation. Fertil Steril2011; 95: 2310-4.
-
(2011)
Fertil Steril
, vol.95
, pp. 2310-4
-
-
Nanassy, L.1
Carrell, D.T.2
-
57
-
-
0036798824
-
Genetic dissection of mammalian fertility pathways
-
Matzuk MM, Lamb DJ. Genetic dissection of mammalian fertility pathways. Nat Cell Biol 2002; 4 Suppl: s41-9. (Pubitemid 35175933)
-
(2002)
Nature Medicine
, vol.8
, Issue.10 SUPPL.
-
-
Matzuk, M.M.1
Lamb, D.J.2
-
58
-
-
78650970528
-
Mouse models in male fertility research
-
Jamsai D, O'Bryan MK. Mouse models in male fertility research. Asian J Androl 2011; 13: 139-51.
-
(2011)
Asian J Androl
, vol.13
, pp. 139-51
-
-
Jamsai, D.1
O'Bryan, M.K.2
-
59
-
-
77953573527
-
The use of transgenic mouse models in the study of male infertility
-
Tamowski S, Aston KI, Carrell D. The use of transgenic mouse models in the study of male infertility. Syst Biol Reprod Med 2010; 56: 260-73.
-
(2010)
Syst Biol Reprod Med
, vol.56
, pp. 260-73
-
-
Tamowski, S.1
Aston, K.I.2
Carrell, D.3
-
60
-
-
78651451766
-
GATA4 regulates Sertoli cell function and fertility in adult male mice
-
Kyrönlahti A, Euler R, Bielinska M, Schoeller EL, Moley KH et al. GATA4 regulates Sertoli cell function and fertility in adult male mice. Mol Cell Endocrinol 2011; 333: 85-95.
-
(2011)
Mol Cell Endocrinol
, vol.333
, pp. 85-95
-
-
Kyrönlahti, A.1
Euler, R.2
Bielinska, M.3
Schoeller, E.L.4
Moley, K.H.5
-
61
-
-
0031572235
-
Wild-type endoderm abrogates the ventral developmental defects associated with GATA-4 deficiency in the mouse
-
DOI 10.1006/dbio.1997.8684
-
Narita N, Bielinska M, Wilson DB. Wild-type endoderm abrogates the ventral development defects associated with GATA-4 deficiency in the mouse. Dev Biol 1997; 189: 270-4. (Pubitemid 27428368)
-
(1997)
Developmental Biology
, vol.189
, Issue.2
, pp. 270-274
-
-
Narita, N.1
Bielinska, M.2
Wilson, D.B.3
-
63
-
-
77955379516
-
Gene trap mutagenesis in the mouse
-
Friedel RH, Soriano P. Gene trap mutagenesis in the mouse. Methods Enzymol 2010; 477: 43-69.
-
(2010)
Methods Enzymol
, vol.477
, pp. 43-69
-
-
Friedel, R.H.1
Soriano, P.2
-
65
-
-
0031712491
-
Mouse mutagenesis - Systematic studies of mammalian gene function
-
DOI 10.1093/hmg/7.10.1627
-
Brown SD, Nolan PM. Mouse mutagenesis-systematic studies of mammalian gene function. Hum Mol Genet 1998; 7: 1627-33. (Pubitemid 28464040)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.10
, pp. 1627-1633
-
-
Brown, S.D.M.1
Nolan, P.M.2
-
66
-
-
3242794987
-
New mouse genetic models for human contraceptive development
-
DOI 10.1159/000078192
-
Lessard C, Pendola JK, Hartford SA, Schimenki JC, Handel MA et al. New mouse genetic models for human contraceptive development. Cytogenet Genome Res 2004; 105: 222-7. (Pubitemid 38979683)
-
(2004)
Cytogenetic and Genome Research
, vol.105
, Issue.2-4
, pp. 222-227
-
-
Lessard, C.1
Pendola, J.K.2
Hartford, S.A.3
Schimenti, J.C.4
Handel, M.A.5
Eppig, J.J.6
-
67
-
-
42649117065
-
The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition
-
Philipps DL, Wigglesworth K, Hartford SA, Sun F, Pattabiraman S et al. The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition. Dev Biol 2008; 317: 72-82.
-
(2008)
Dev Biol
, vol.317
, pp. 72-82
-
-
Philipps, D.L.1
Wigglesworth, K.2
Hartford, S.A.3
Sun, F.4
Pattabiraman, S.5
-
68
-
-
67349109706
-
A missense mutation in the Capza3 gene and disruption of F-actin organization in spermatids of repro32 infertile male mice
-
Geyer CB, Inselman AL, Sunman JA, Bornstein S, Handel MA et al. A missense mutation in the Capza3 gene and disruption of F-actin organization in spermatids of repro32 infertile male mice. Dev Biol 2009; 330: 142-52.
-
(2009)
Dev Biol
, vol.330
, pp. 142-52
-
-
Geyer, C.B.1
Inselman, A.L.2
Sunman, J.A.3
Bornstein, S.4
Handel, M.A.5
-
69
-
-
77952233318
-
Mutation of Eif4g3, encoding a eukaryotic translation initiation factor, causes male infertility and meiotic arrest of mouse spermatocytes
-
Sun F, Palmer K, Handel MA. Mutation of Eif4g3, encoding a eukaryotic translation initiation factor, causes male infertility and meiotic arrest of mouse spermatocytes. Development 2010; 137: 1699-707.
-
(2010)
Development
, vol.137
, pp. 1699-707
-
-
Sun, F.1
Palmer, K.2
Handel, M.A.3
-
70
-
-
23744508506
-
Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations
-
DOI 10.1101/gr.3826505
-
Wilson L, Ching YH, Farias MF, Hartford S, Howell G et al. Random mutagenesis of proximal mouse Chromosome 5 uncovers predominantly embryonic lethal mutations. Genome Res 2005; 15: 1095-105. (Pubitemid 41126865)
-
(2005)
Genome Research
, vol.15
, Issue.8
, pp. 1095-1105
-
-
Wilson, L.1
Ching, Y.-H.2
Farias, M.3
Hartford, S.A.4
Howell, G.5
Shao, H.6
Bucan, M.7
Schimenti, J.C.8
-
71
-
-
34547447763
-
Sperm motility defects and infertility in male mice with a mutation in Nsun7, a member of the sun domain-containing family of putative RNA methyltransferases
-
DOI 10.1095/biolreprod.106.058669
-
Harris T, Marquez B, Suarez S, Schimenti J. Sperm motility defects and infertility in male mice with a mutation in Nsun7, a member of the Sun domain-containing family of putative RNA methyltransferases. Biol Reprod 2007; 77: 376-82. (Pubitemid 47173622)
-
(2007)
Biology of Reproduction
, vol.77
, Issue.2
, pp. 376-382
-
-
Harris, T.1
Marquez, B.2
Suarez, S.3
Schimenti, J.4
-
72
-
-
34548390723
-
Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over
-
Ward JO, Reinholdt LG, Motley WW, Niswander LM, Deacon DC et al. Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over. PLoS Genet 2007; 3: e139.
-
(2007)
PLoS Genet
, vol.3
-
-
Ward, J.O.1
Reinholdt, L.G.2
Motley, W.W.3
Niswander, L.M.4
Deacon, D.C.5
-
73
-
-
0036787299
-
Mouse models of male infertility
-
Cooke HJ, Saunders PT. Mouse models of male infertility. Nat Rev Genet 2002; 3: 790-801.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 790-801
-
-
Cooke, H.J.1
Saunders, P.T.2
-
74
-
-
33847615320
-
Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men
-
DOI 10.1530/REP-06-0125
-
Zhang W, Zhang S, Xiao C, Yang Y, Zhoucun A. Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men. Reproduction 2007; 133: 511-6. (Pubitemid 46359539)
-
(2007)
Reproduction
, vol.133
, Issue.2
, pp. 511-516
-
-
Zhang, W.1
Zhang, S.2
Xiao, C.3
Yang, Y.4
Zhoucun, A.5
-
75
-
-
77951203064
-
Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: A case-control study
-
Sunnotel O, Hiripi L, Lagan K, McDaid JR, de León JM et al. Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study. Reprod Biol Endocrinol 2010; 8: 22
-
(2010)
Reprod Biol Endocrinol
, vol.8
, pp. 22
-
-
Sunnotel, O.1
Hiripi, L.2
Lagan, K.3
McDaid, J.R.4
De León, J.M.5
-
76
-
-
34249071336
-
Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype
-
DOI 10.1111/j.1442-2042.2007.01741.x
-
Choi J, Koh E, Suzuki H, Maeda Y, Yoshida A et al. Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype. Int J Urol 2007; 14: 431-5. (Pubitemid 46778671)
-
(2007)
International Journal of Urology
, vol.14
, Issue.5
, pp. 431-435
-
-
Choi, J.1
Koh, E.2
Suzuki, H.3
Maeda, Y.4
Yoshida, A.5
Namiki, M.6
-
77
-
-
0036247892
-
Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure
-
DOI 10.1016/S0015-0282(02)03059-5, PII S0015028202030595
-
Lin YM, Lin YH, Teng YN, Hsu CC, Shinn-Nan Lin J et al. Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure. Fertil Steril 2002; 77: 897-903. (Pubitemid 34497154)
-
(2002)
Fertility and Sterility
, vol.77
, Issue.5
, pp. 897-903
-
-
Lin, Y.-M.1
Lin, Y.-H.2
Teng, Y.-N.3
Hsu, C.-C.4
Shinn-Nan Lin, J.5
Kuo, P.-L.6
-
78
-
-
61449124142
-
Spermatogenesis in a man with complete deletion of USP9Y
-
Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M et al. Spermatogenesis in a man with complete deletion of USP9Y. N Engl J Med 2009; 360: 881-5.
-
(2009)
N Engl J Med
, vol.360
, pp. 881-5
-
-
Luddi, A.1
Margollicci, M.2
Gambera, L.3
Serafini, F.4
Cioni, M.5
-
79
-
-
43449137574
-
A rare y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing
-
Sims LM, Ballantyne J. A rare Y chromosome missense mutation in exon 25 of human USP9Y revealed by pyrosequencing. Biochem Genet 2008; 46: 154-61.
-
(2008)
Biochem Genet
, vol.46
, pp. 154-61
-
-
Sims, L.M.1
Ballantyne, J.2
-
80
-
-
33748746053
-
Natural transmission of USP9Y gene mutations: A new perspective on the role of AZFa genes in male fertility
-
DOI 10.1093/hmg/ddl198
-
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 2006; 15: 2673-81. (Pubitemid 44400394)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.18
, pp. 2673-2681
-
-
Krausz, C.1
Degl'Innocenti, S.2
Nuti, F.3
Morelli, A.4
Felici, F.5
Sansone, M.6
Varriale, G.7
Forti, G.8
-
81
-
-
0034938385
-
The role of USP9Y and DBY in infertile patients with severely impaired spermatogenesis (multiple letters)
-
van Landuyt L, Lissens W, Stouffs K, Tournaye H, van Steirteghem A et al. The role of USP9Y and DBY in infertile patients with severely impaired spermatogenesis. Mol Hum Reprod 2001; 7: 691-3. (Pubitemid 32633419)
-
(2001)
Molecular Human Reproduction
, vol.7
, Issue.7
, pp. 691-693
-
-
Van Landuyt, L.1
Lissens, W.2
Stouffs, K.3
Tournaye, H.4
Van Steirteghem, A.5
Liebaers, I.6
Blagosklonova, O.7
Bresson, J.-L.8
-
82
-
-
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 1999; 23: 429-32.
-
(1999)
Nat Genet
, vol.23
, pp. 429-32
-
-
Sun, C.1
Skaletsky, H.2
Birren, B.3
Devon, K.4
Tang, Z.5
-
83
-
-
0033836470
-
AZFa deletions in Sertoli cell-only syndrome: A retrospective study
-
Blagosklonova O, Fellmann F, Clavequin MC, Roux C, Bresson JL. AZFa deletions in Sertoli cell-only syndrome: a retrospective study. Mol Hum Reprod 2000; 6: 795-9. (Pubitemid 30660611)
-
(2000)
Molecular Human Reproduction
, vol.6
, Issue.9
, pp. 795-799
-
-
Blagosklonova, O.1
Fellmann, F.2
Clavequin, M.-C.3
Roux, C.4
Bresson, J.-L.5
-
84
-
-
40149089444
-
Genome-wide expression of azoospermia testes demonstrates a specific profile and implicates ART3 in genetic susceptibility
-
Okada H, Tajima A, Shichiri K, Tanaka A, Tanaka K et al. Genome-wide expression of azoospermia testes demonstrates a specific profile and implicates ART3 in genetic susceptibility. PLoS Genet 2008;4: e26.
-
(2008)
PLoS Genet
, vol.4
-
-
Okada, H.1
Tajima, A.2
Shichiri, K.3
Tanaka, A.4
Tanaka, K.5
-
85
-
-
68549099756
-
Single-nucleotide polymorphisms of the PRDM9 (MEISETZ) gene in patients with nonobstructive azoospermia
-
Irie S, Tsujimura A, Miyagawa Y, Ueda T, Matsuoka Y et al. Single-nucleotide polymorphisms of the PRDM9 (MEISETZ) gene in patients with nonobstructive azoospermia. J Androl 2009; 30: 426-31.
-
(2009)
J Androl
, vol.30
, pp. 426-31
-
-
Irie, S.1
Tsujimura, A.2
Miyagawa, Y.3
Ueda, T.4
Matsuoka, Y.5
-
86
-
-
77954126153
-
Mutations in SOHLH1 gene associate with nonobstructive azoospermia
-
Choi Y, Jeon S, Choi M, Lee MH, Park M et al. Mutations in SOHLH1 gene associate with nonobstructive azoospermia. Hum Mutat 2010; 31: 788-93.
-
(2010)
Hum Mutat
, vol.31
, pp. 788-93
-
-
Choi, Y.1
Jeon, S.2
Choi, M.3
Lee, M.H.4
Park, M.5
-
87
-
-
20644434156
-
Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia
-
Dong JT, Zhang SZ, Ma YX, Yang KX, Huang MK et al. Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005; 22: 258-60.
-
(2005)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.22
, pp. 258-60
-
-
Dong, J.T.1
Zhang, S.Z.2
Ma, Y.X.3
Yang, K.X.4
Huang, M.K.5
-
88
-
-
52949123625
-
The association of 4a4b polymorphism of endothelial nitric oxide synthase (eNOS) gene with the sperm morphology in Korean infertile men
-
Yun YJ, Park JH, Song SH, Lee S. The association of 4a4b polymorphism of endothelial nitric oxide synthase (eNOS) gene with the sperm morphology in Korean infertile men. Fertil Steril 2008; 90: 1126-31.
-
(2008)
Fertil Steril
, vol.90
, pp. 1126-31
-
-
Yun, Y.J.1
Park, J.H.2
Song, S.H.3
Lee, S.4
-
89
-
-
77957857170
-
Single nucleotide polymorphism (SNP) of the endothelial nitric oxide synthase (eNOS) gene (Glu298Asp variant) in infertile men with asthenozoospermia
-
Buldreghini E, Mahfouz RZ, Vignini A, Mazzanti L, Ricciardo-Lamonica G et al. Single nucleotide polymorphism (SNP) of the endothelial nitric oxide synthase (eNOS) gene (Glu298Asp variant) in infertile men with asthenozoospermia. J Androl 2010; 31: 482-8.
-
(2010)
J Androl
, vol.31
, pp. 482-8
-
-
Buldreghini, E.1
Mahfouz, R.Z.2
Vignini, A.3
Mazzanti, L.4
Ricciardo-Lamonica, G.5
-
90
-
-
47649085829
-
Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia
-
DOI 10.1093/humrep/den193
-
Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A et al. Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. Hum Reprod 2008; 23: 1957-62. (Pubitemid 352020018)
-
(2008)
Human Reproduction
, vol.23
, Issue.8
, pp. 1957-1962
-
-
Zuccarello, D.1
Ferlin, A.2
Cazzadore, C.3
Pepe, A.4
Garolla, A.5
Moretti, A.6
Cordeschi, G.7
Francavilla, S.8
Foresta, C.9
-
91
-
-
22244435321
-
Fluorescence in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath
-
DOI 10.1016/j.fertnstert.2005.01.128, PII S0015028205006709
-
Baccetti B, Collodel G, Gambera L, Moretti E, Serafini F et al. Fluorescence in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath. Fertil Steril 2005; 84: 123-9. (Pubitemid 40991471)
-
(2005)
Fertility and Sterility
, vol.84
, Issue.1
, pp. 123-129
-
-
Baccetti, B.1
Collodel, G.2
Gambera, L.3
Moretti, E.4
Serafini, F.5
Piomboni, P.6
-
92
-
-
68149150519
-
Hereditary haemochromatosis gene (HFE) H63D mutation shows an association with abnormal sperm motility
-
Gunel-Ozcan A, Basar MM, Kisa U, Ankarali HC. Hereditary haemochromatosis gene (HFE) H63D mutation shows an association with abnormal sperm motility. Mol Biol Rep 2009; 36: 1709-14.
-
(2009)
Mol Biol Rep
, vol.36
, pp. 1709-14
-
-
Gunel-Ozcan, A.1
Basar, M.M.2
Kisa, U.3
Ankarali, H.C.4
-
93
-
-
35548991338
-
A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme
-
DOI 10.1095/biolreprod.107.063206
-
Zhang Z, Zariwala MA, Mahadevan MM, Caballero-Campo P, Shen X et al. A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme. Biol Reprod 2007; 77: 864-71. (Pubitemid 350014175)
-
(2007)
Biology of Reproduction
, vol.77
, Issue.5
, pp. 864-871
-
-
Zhang, Z.1
Zariwala, M.A.2
Mahadevan, M.M.3
Caballero-Campo, P.4
Shen, X.5
Escudier, E.6
Duriez, B.7
Bridoux, A.-M.8
Leigh, M.9
Gerton, G.L.10
Kennedy, M.11
Amselem, S.12
Knowles, M.R.13
Strauss III, J.F.14
-
94
-
-
84855435951
-
Association of TNFalpha, TNFR1 and TNFR2 polymorphisms with sperm concentration and motility
-
e-pub ahead of print 24 February 2011 doi:10.2164/jandrol.110.011486
-
Lazaros LA, Xita NV, Chatzikyriakidou AL, Kaponis AI, Grigoriadis NG et al. Association of TNFalpha, TNFR1 and TNFR2 polymorphisms with sperm concentration and motility. J Androl; e-pub ahead of print 24 February 2011; doi:10.2164/jandrol.110.011486.
-
J Androl
-
-
Lazaros, L.A.1
Xita, N.V.2
Chatzikyriakidou, A.L.3
Kaponis, A.I.4
Grigoriadis, N.G.5
-
95
-
-
0034904929
-
Molecular evaluation of two major human sperm fibrous sheath proteins, pro-hAKAP82 and hAKAP82, in stump tail sperm
-
DOI 10.1016/S0015-0282(01)01922-7, PII S0015028201019227
-
Turner RM, Foster JA, Gerton GL, Moss SB, Patrizio P. Molecular evaluation of two major human sperm fibrous sheath proteins, pro-hAKAP82 and hAKAP82, in stump tail sperm. Fertil Steril 2001; 76: 267-74. (Pubitemid 32703813)
-
(2001)
Fertility and Sterility
, vol.76
, Issue.2
, pp. 267-274
-
-
Turner, R.M.1
Foster, J.A.2
Gerton, G.L.3
Moss, S.B.4
Patrizio, P.5
-
96
-
-
0035110573
-
Molecular genetic analysis of two human sperm fibrons sheath proteins, AKAP4 and AKAP3, in men with dysplasia of the fibrous sheath
-
Turner RM, Musse MP, Mandal A, Klotz K, Jayes FC et al. Molecular genetic analysis of two human sperm fibrous sheath proteins, AKAP4 and AKAP3, in men with dysplasia of the fibrous sheath. J Androl 2001; 22: 302-15. (Pubitemid 32174192)
-
(2001)
Journal of Andrology
, vol.22
, Issue.2
, pp. 302-315
-
-
Turner, R.M.O.1
Musse, M.P.2
Mandal, A.3
Klotz, K.4
Jayes, F.C.L.5
Herr, J.C.6
Gerton, G.L.7
Moss, S.B.8
Chemes, H.E.9
-
97
-
-
34147103978
-
Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men
-
DOI 10.1093/molehr/gal118
-
Dhillon VS, Shahid M, Husain SA. Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men. Mol Hum Reprod 2007; 13: 213-22. (Pubitemid 46554738)
-
(2007)
Molecular Human Reproduction
, vol.13
, Issue.4
, pp. 213-222
-
-
Dhillon, V.S.1
Shahid, M.2
Husain, S.A.3
-
98
-
-
77956096988
-
The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility
-
Safarinejad MR, Shafiei N, Safarinejad S. The role of endothelial nitric oxide synthase (eNOS) T-786C, G894T, and 4a/b gene polymorphisms in the risk of idiopathic male infertility. Mol Reprod Dev 2010; 77: 720-7.
-
(2010)
Mol Reprod Dev
, vol.77
, pp. 720-7
-
-
Safarinejad, M.R.1
Shafiei, N.2
Safarinejad, S.3
-
99
-
-
78649518098
-
Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population
-
Gu A, Ji G, Shi X, Long Y, Xia Y et al. Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population. Hum Reprod 2010; 25: 2955-61.
-
(2010)
Hum Reprod
, vol.25
, pp. 2955-61
-
-
Gu, A.1
Ji, G.2
Shi, X.3
Long, Y.4
Xia, Y.5
-
100
-
-
33746844907
-
Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3
-
Christensen GL, Ivanov IP, Wooding SP, Atkins JF, Mielnik A et al. Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3. BMC Med Genet 2006; 7: 27.
-
(2006)
BMC Med Genet
, vol.7
, pp. 27
-
-
Christensen, G.L.1
Ivanov, I.P.2
Wooding, S.P.3
Atkins, J.F.4
Mielnik, A.5
-
101
-
-
70349604399
-
Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients
-
Lai YC, Wang WC, Yang JJ, Li SY. Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients. J Assist Reprod Genet 2009; 26: 257-61.
-
(2009)
J Assist Reprod Genet
, vol.26
, pp. 257-61
-
-
Lai, Y.C.1
Wang, W.C.2
Yang, J.J.3
Li, S.Y.4
-
102
-
-
42449135444
-
Gene polymorphisms/mutations relevant to abnormal spermatogenesis
-
Nuti F, Krausz C. Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online 2008; 16: 504-13. (Pubitemid 351566165)
-
(2008)
Reproductive BioMedicine Online
, vol.16
, Issue.4
, pp. 504-513
-
-
Nuti, F.1
Krausz, C.2
-
103
-
-
79960369912
-
Association between male infertility and genetic variability at the PON1/2 and GSTM1/T1 gene loci
-
Volk M, Jaklic H, Zorn B, Peterlin B. Association between male infertility and genetic variability at the PON1/2 and GSTM1/T1 gene loci. Reprod Biomed Online 2011; 23: 105-10.
-
(2011)
Reprod Biomed Online
, vol.23
, pp. 105-10
-
-
Volk, M.1
Jaklic, H.2
Zorn, B.3
Peterlin, B.4
-
104
-
-
77957300266
-
Glutathione-S-transferase gene polymorphisms (GSTM1, GSTT1, GSTP1) and idiopathic male infertility: Novel perspectives versus facts
-
Economopoulos KP, Sergentanis TN, Choussein S. Glutathione-S-transferase gene polymorphisms (GSTM1, GSTT1, GSTP1) and idiopathic male infertility: novel perspectives versus facts. J Hum Genet 2010; 55: 557-8.
-
(2010)
J Hum Genet
, vol.55
, pp. 557-8
-
-
Economopoulos, K.P.1
Sergentanis, T.N.2
Choussein, S.3
-
105
-
-
77954573470
-
Role of glutathione S-transferase Mu-1 (GSTM1) polymorphism in oligospermic infertile males
-
Tirumala Vani G, Mukesh N, Siva Prasad B, Rama Devi P, Hema Prasad M et al. Role of glutathione S-transferase Mu-1 (GSTM1) polymorphism in oligospermic infertile males. Andrologia 2010; 42: 213-7.
-
(2010)
Andrologia
, vol.42
, pp. 213-7
-
-
Tirumala Vani, G.1
Mukesh, N.2
Siva Prasad, B.3
Rama Devi, P.4
Hema Prasad, M.5
-
106
-
-
77957292572
-
The association of glutathione-S-transferase gene polymorphisms (GSTM1, GSTT1, GSTP1) with idiopathic male infertility
-
Safarinejad MR, Shafiei N, Safarinejad S. The association of glutathione-S-transferase gene polymorphisms (GSTM1, GSTT1, GSTP1) with idiopathic male infertility. J Hum Genet 2010; 55: 565-70.
-
(2010)
J Hum Genet
, vol.55
, pp. 565-70
-
-
Safarinejad, M.R.1
Shafiei, N.2
Safarinejad, S.3
-
107
-
-
70349391109
-
Glutathione S-transferase M1 and T1 polymorphism in men with idiopathic infertility
-
Finotti AC, Costa E, Silva RC, Bordin BM, Silva CT et al. Glutathione S-transferase M1 and T1 polymorphism in men with idiopathic infertility. Genet Mol Res 2009; 8: 1093-8.
-
(2009)
Genet Mol Res
, vol.8
, pp. 1093-8
-
-
Finotti, A.C.1
Costa, E.2
Silva, R.C.3
Bordin, B.M.4
Silva, C.T.5
-
108
-
-
32844467372
-
MTHFR C677T polymorphism, GSTM1 deletion and male infertility: A possible suggestion of a gene-gene interaction?
-
DOI 10.1080/13547500500442050, PII T1778711571682
-
Paracchini V, Garte S, Taioli E. MTHFR C677T polymorphism, GSTM1 deletion and male infertility: a possible suggestion of a gene-gene interaction? Biomarkers 2006; 11: 53-60. (Pubitemid 43250551)
-
(2006)
Biomarkers
, vol.11
, Issue.1
, pp. 53-60
-
-
Paracchini, V.1
Garte, S.2
Taioli, E.3
-
109
-
-
67651097785
-
Association of CYP1A1 and glutathione S-transferase polymorphisms with male factor infertility
-
Aydos SE, Taspinar M, Sunguroglu A, Aydos K. Association of CYP1A1 and glutathione S-transferase polymorphisms with male factor infertility. Fertil Steril 2009; 92: 541-7.
-
(2009)
Fertil Steril
, vol.92
, pp. 541-7
-
-
Aydos, S.E.1
Taspinar, M.2
Sunguroglu, A.3
Aydos, K.4
-
110
-
-
70350573495
-
Association of CYP1A1*2A polymorphism with male infertility in Indian population
-
Vani GT, Mukesh N, Siva Prasad B, Rama Devi P, Hema Prasad M et al. Association of CYP1A1*2A polymorphism with male infertility in Indian population. Clin Chim Acta 2009; 410: 43-7.
-
(2009)
Clin Chim Acta
, vol.410
, pp. 43-7
-
-
Vani, G.T.1
Mukesh, N.2
Siva Prasad, B.3
Rama Devi, P.4
Hema Prasad, M.5
-
111
-
-
51349089528
-
Polymorphisms in CYP1A1 gene are associated with male infertility in a Chinese population
-
Lu N, Wu B, Xia Y, Wang W, Gu A et al. Polymorphisms in CYP1A1 gene are associated with male infertility in a Chinese population. Int J Androl 2008; 31: 527-33.
-
(2008)
Int J Androl
, vol.31
, pp. 527-33
-
-
Lu, N.1
Wu, B.2
Xia, Y.3
Wang, W.4
Gu, A.5
-
112
-
-
0031803821
-
Increased frequencies of cytochrome P4501A1 polymorphisms in infertile men
-
Fritsche E, Schuppe HC, Döhr O, Ruzicka T, Gleichmann E et al. Increased frequencies of cytochrome P4501A1 polymorphisms in infertile men. Andrologia 1998; 30: 125-8. (Pubitemid 28255879)
-
(1998)
Andrologia
, vol.30
, Issue.3
, pp. 125-128
-
-
Fritsche, E.1
Schuppe, H.-C.2
Dohr, O.3
Ruzicka, T.4
Gleichmann, E.5
Abel, J.6
-
113
-
-
33751357550
-
Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL 10 mutations in oligozoospermic patients impair homodimerization
-
DOI 10.1093/hmg/ddl417
-
Yatsenko AN, Roy A, Chen R, Ma L, Murthy LJ et al. Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. Hum Mol Genet 2006; 15: 3411-9. (Pubitemid 44811593)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.23
, pp. 3411-3419
-
-
Yatsenko, A.N.1
Roy, A.2
Chen, R.3
Ma, L.4
Murthy, L.J.5
Yan, W.6
Lamb, D.J.7
Matzuk, M.M.8
-
114
-
-
79952403214
-
CAG-repeat variant in the polymerase gamma gene and male infertility in the Chinese population: A meta-analysis
-
Liu SY, Zhang CJ, Peng HY, Yao YF, Shi L et al. CAG-repeat variant in the polymerase gamma gene and male infertility in the Chinese population: a meta-analysis. Asian J Androl 2011; 13: 298-304.
-
(2011)
Asian J Androl
, vol.13
, pp. 298-304
-
-
Liu, S.Y.1
Zhang, C.J.2
Peng, H.Y.3
Yao, Y.F.4
Shi, L.5
-
115
-
-
3142664681
-
Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility
-
DOI 10.1095/biolreprod.103.023580
-
Shinka T, Sato Y, Chen G, Naroda T, Kinoshita K et al. Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility. Biol Reprod 2004; 71: 297-306. (Pubitemid 38915337)
-
(2004)
Biology of Reproduction
, vol.71
, Issue.1
, pp. 297-306
-
-
Shinkay, T.1
Sato, Y.2
Chen, G.3
Naroda, T.4
Kinoshita, K.5
Unemi, Y.6
Tsuji, K.7
Toida, K.8
Iwamoto, T.9
Nakahori, Y.10
-
116
-
-
18644369633
-
A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia
-
DOI 10.1093/molehr/gah153
-
Vinci G, Raicu F, Popa L, Popa O, Cocos R et al. A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia. Mol Hum Reprod 2005; 11: 295-8. (Pubitemid 40662815)
-
(2005)
Molecular Human Reproduction
, vol.11
, Issue.4
, pp. 295-298
-
-
Vinci, G.1
Raicu, F.2
Popa, L.3
Popa, O.4
Cocos, R.5
McElreavey, K.6
-
117
-
-
70349923423
-
TSPY1 copy number variation influences spermatogenesis and shows differences among y lineages
-
Giachini C, Nuti F, Turner DJ, Laface I, Xue Y et al. TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. J Clin Endocrinol Metab. 2009; 94: 4016-22
-
(2009)
J Clin Endocrinol Metab.
, vol.94
, pp. 4016-22
-
-
Giachini, C.1
Nuti, F.2
Turner, D.J.3
Laface, I.4
Xue, Y.5
-
118
-
-
79960220871
-
The y chromosome-linked copy number variations and male fertility
-
Krausz C, Chianese C, Giachini C, Guarducci E, Laface I et al. The Y chromosome-linked copy number variations and male fertility. J Endocrinol Invest. 2011; 34: 376-82.
-
(2011)
J Endocrinol Invest.
, vol.34
, pp. 376-82
-
-
Krausz, C.1
Chianese, C.2
Giachini, C.3
Guarducci, E.4
Laface, I.5
-
119
-
-
77951203064
-
Allterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: A case-control study
-
Sunnotel O, Hiripi L, Lagan K, McDaid JR, de León JM et al. Allterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study. Reprod Biol Endocrinol 2010; 8: 22.
-
(2010)
Reprod Biol Endocrinol
, vol.8
, pp. 22
-
-
Sunnotel, O.1
Hiripi, L.2
Lagan, K.3
McDaid, J.R.4
De León, J.M.5
-
120
-
-
78651397009
-
Molecular analysis of guanidinoacetate-N-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility
-
Iqbal F, Item CB, Ratschmann R, Ali M, Plas E et al. Molecular analysis of guanidinoacetate-N-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility. Pak J Pharm Sci 2011; 24: 75-9.
-
(2011)
Pak J Pharm Sci
, vol.24
, pp. 75-9
-
-
Iqbal, F.1
Item, C.B.2
Ratschmann, R.3
Ali, M.4
Plas, E.5
-
121
-
-
33644922689
-
Expression profiles and single-nucleotide polymorphism analysis of human HANP1/H1T2 encoding a histone H1-like protein
-
DOI 10.1111/j.1365-2605.2005.00600.x
-
Tanaka H, Matsuoka Y, Onishi M, Kitamura K, Miyagawa Y et al. Expression profiles and single-nucleotide polymorphism analysis of human HANP1/H1T2 encoding a histone H1-like protein. Int J Androl 2006; 29: 353-9. (Pubitemid 43383402)
-
(2006)
International Journal of Andrology
, vol.29
, Issue.2
, pp. 353-359
-
-
Tanaka, H.1
Matsuoka, Y.2
Onishi, M.3
Kitamura, K.4
Miyagawa, Y.5
Nishimura, H.6
Tsujimura, A.7
Okuyama, A.8
Nishimune, Y.9
-
122
-
-
72949118097
-
Functional polymorphism in H2BFWT-5'UTR is associated with susceptibility to male infertility
-
Lee J, Park HS, Kim HH, Yun YJ, Lee DR et al. Functional polymorphism in H2BFWT-5'UTR is associated with susceptibility to male infertility. J Cell Mol Med 2009; 13: 1942-51.
-
(2009)
J Cell Mol Med
, vol.13
, pp. 1942-51
-
-
Lee, J.1
Park, H.S.2
Kim, H.H.3
Yun, Y.J.4
Lee, D.R.5
-
123
-
-
33751198279
-
Analysis of the hemochromatosis mutations C282Y and H63D in infertile men
-
Peterlin B, Kunej T, Hruskovicová H, Ferk P, Gersak K et al. Analysis of the hemochromatosis mutations C282Y and H63D in infertile men. Fertil Steril 2006; 86: 1796-8.
-
(2006)
Fertil Steril
, vol.86
, pp. 1796-8
-
-
Peterlin, B.1
Kunej, T.2
Hruskovicová, H.3
Ferk, P.4
Gersak, K.5
-
124
-
-
22744437989
-
Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility
-
Hassun Filho PA, Cedenho AP, Lima SB, Ortiz V, Srougi M. Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility. Int Braz J Urol 2005; 31: 236-42. (Pubitemid 41030427)
-
(2005)
International Braz J Urol
, vol.31
, Issue.3
, pp. 236-242
-
-
Hassun Filho, P.A.1
Cedenho, A.P.2
Lima, S.B.3
Ortiz, V.4
Srougi, M.5
-
125
-
-
78751569721
-
Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts
-
Montjean D, Benkhalifa M, Dessolle L, Cohen-Bacrie P, Belloc S et al. Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts. Fertil Steril 2011; 95: 635-40.
-
(2011)
Fertil Steril
, vol.95
, pp. 635-40
-
-
Montjean, D.1
Benkhalifa, M.2
Dessolle, L.3
Cohen-Bacrie, P.4
Belloc, S.5
-
126
-
-
61649102893
-
The highly conserved NANOS2 protein: Testis-specific expression and significance for the human male reproduction
-
Kusz KM, Tomczyk L, Sajek M, Spik A, Latos-Bielenska A, et al. The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction. Mol Hum Reprod 2009; 15: 165-71.
-
(2009)
Mol Hum Reprod
, vol.15
, pp. 165-71
-
-
Kusz, K.M.1
Tomczyk, L.2
Sajek, M.3
Spik, A.4
Latos-Bielenska, A.5
-
127
-
-
67650800128
-
NANOS3 gene mutations in men with isolated sterility phenotype
-
Kusz K, Tomczyk L, Spik A, Latos-Bielenska A, Jedrzejczak P et al. NANOS3 gene mutations in men with isolated sterility phenotype. Mol Reprod Dev 2009; 76: 804
-
(2009)
Mol Reprod Dev
, vol.76
, pp. 804
-
-
Kusz, K.1
Tomczyk, L.2
Spik, A.3
Latos-Bielenska, A.4
Jedrzejczak, P.5
-
128
-
-
77957752301
-
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
-
Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ et al. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet 2010; 87: 505-12.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 505-12
-
-
Bashamboo, A.1
Ferraz-De-Souza, B.2
Lourenço, D.3
Lin, L.4
Sebire, N.J.5
-
129
-
-
26244431698
-
Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology
-
DOI 10.1016/j.fertnstert.2005.03.070, PII S0015028205012483
-
Galan JJ, Buch B, Cruz N, Segura A, Moron FJ et al. Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology. Fertil Steril 2005; 84: 910-8. (Pubitemid 41414580)
-
(2005)
Fertility and Sterility
, vol.84
, Issue.4
, pp. 910-918
-
-
Galan, J.J.1
Buch, B.2
Cruz, N.3
Segura, A.4
Moron, F.J.5
Bassas, L.6
Martinez-Pineiro, L.7
Real, L.M.8
Ruiz, A.9
-
130
-
-
34247568309
-
Polymorphisms of the human PUMILIO2 gene and male sterility
-
DOI 10.1002/mrd.20683
-
Kusz K, Ginter-Matuszewska B, Ziolkowska K, Spik A, Bierla J et al. Polymorphisms of the human PUMILIO2 gene and male sterility. Mol Reprod Dev 2007; 74: 795-9. (Pubitemid 46676843)
-
(2007)
Molecular Reproduction and Development
, vol.74
, Issue.6
, pp. 795-799
-
-
Kusz, K.1
Ginter-Matuszewska, B.2
Ziolkowska, K.3
Spik, A.4
Bierla, J.5
Jedrzejczak, P.6
Latos-Bielenska, A.7
Pawelczyk, L.8
Jaruzelska, J.9
-
131
-
-
33751361980
-
Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure
-
Westerveld GH, Korver CM, van Pelt AM, Leschot NJ, van der Veen F et al. Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure. Hum Reprod 2006; 21: 3178-4.
-
(2006)
Hum Reprod
, vol.21
, pp. 3178-4
-
-
Westerveld, G.H.1
Korver, C.M.2
Van Pelt, A.M.3
Leschot, N.J.4
Van Der Veen, F.5
-
132
-
-
77957844086
-
Some single-nucleotide polymorphisms of the TSSK2 gene may be associated with human spermatogenesis impairment
-
Zhang H, Su D, Yang Y, Zhang W, Liu Y et al. Some single-nucleotide polymorphisms of the TSSK2 gene may be associated with human spermatogenesis impairment. J Androl 2010; 31: 388-92.
-
(2010)
J Androl
, vol.31
, pp. 388-92
-
-
Zhang, H.1
Su, D.2
Yang, Y.3
Zhang, W.4
Liu, Y.5
-
133
-
-
77749283803
-
C.8221126T.G/C: A novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population
-
Su D, Zhang W, Yang Y, Zhang H, Liu YQ et al. c.8221126T.G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population. Asian J Androl 2010; 12: 234-9.
-
(2010)
Asian J Androl
, vol.12
, pp. 234-9
-
-
Su, D.1
Zhang, W.2
Yang, Y.3
Zhang, H.4
Liu, Y.Q.5
-
134
-
-
33645049053
-
UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man
-
Rohozinski J, Lamb DJ, Bishop CE. UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man. Biol Reprod 2006; 74: 644-51.
-
(2006)
Biol Reprod
, vol.74
, pp. 644-51
-
-
Rohozinski, J.1
Lamb, D.J.2
Bishop, C.E.3
-
135
-
-
84455188556
-
MTHFR 677C.T and 1298A.C polymorphisms and male infertility risk: A meta-analysis
-
e-pub ahead of print 4 June doi: 10.1007/s11033-011-0946-4
-
Wei B, Xu Z, Ruan J, Zhu M, Jin K et al. MTHFR 677C.T and 1298A.C polymorphisms and male infertility risk: a meta-analysis. Mol Biol Rep 2011; e-pub ahead of print 4 June doi: 10.1007/s11033-011-0946-4.
-
(2011)
Mol Biol Rep
-
-
Wei, B.1
Xu, Z.2
Ruan, J.3
Zhu, M.4
Jin, K.5
-
136
-
-
84855666393
-
Methylenetetrahydrofolate reductase C677T polymorphism and the risk of male infertility: A meta-analysis
-
e-pub ahead of print 28 April 2011; doi:10.1111/j.1365-2605.2011.01147.x
-
Wu W, Shen O, Qin Y, Lu J, Niu X et al. Methylenetetrahydrofolate reductase C677T polymorphism and the risk of male infertility: a meta-analysis. Int J Androl; e-pub ahead of print 28 April 2011; doi:10.1111/j.1365-2605.2011. 01147.x.
-
Int J Androl
-
-
Wu, W.1
Shen, O.2
Qin, Y.3
Lu, J.4
Niu, X.5
-
137
-
-
35948969182
-
Male infertility and variation in CAG repeat length in the androgen receptor gene: A meta-analysis
-
DOI 10.1210/jc.2007-1110
-
Davis-Dao CA, Tuazon ED, Sokol RZ, Cortessis VK. Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis. J Clin Endocrinol Metab 2007; 92: 4319-26. (Pubitemid 350074751)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.11
, pp. 4319-4326
-
-
Davis-Dao, C.A.1
Tuazon, E.D.2
Sokol, R.Z.3
Cortessis, V.K.4
-
138
-
-
11944258354
-
Genetic control of spermiogenesis: Insights from the CREM gene and implications for human infertility
-
Krausz C, Sassone-Corsi P. Genetic control of spermiogenesis: insights from the CREM gene and implications for human infertility. Reprod Biomed Online 2005; 10: 64-71. (Pubitemid 40100656)
-
(2005)
Reproductive BioMedicine Online
, vol.10
, Issue.1
, pp. 64-71
-
-
Krausz, C.1
Sassone-Corsi, P.2
-
139
-
-
58649096392
-
FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia
-
Wang W, Lu N, Xia Y, Gu A, Wu B et al. FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia. Reprod Biomed Online 2009; 18: 141-7.
-
(2009)
Reprod Biomed Online
, vol.18
, pp. 141-7
-
-
Wang, W.1
Lu, N.2
Xia, Y.3
Gu, A.4
Wu, B.5
-
140
-
-
70349459789
-
Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality
-
Ji G, Gu A, Hu F, Wang S, Liang J et al. Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality. Hum Reprod 2009; 24: 2439-46.
-
(2009)
Hum Reprod
, vol.24
, pp. 2439-46
-
-
Ji, G.1
Gu, A.2
Hu, F.3
Wang, S.4
Liang, J.5
-
141
-
-
33847615320
-
Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men
-
DOI 10.1530/REP-06-0125
-
Zhang W, Zhang S, Xiao C, Yang Y, Zhoucun A. Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men. Reproduction 2007; 133: 511-6. (Pubitemid 46359539)
-
(2007)
Reproduction
, vol.133
, Issue.2
, pp. 511-516
-
-
Zhang, W.1
Zhang, S.2
Xiao, C.3
Yang, Y.4
Zhoucun, A.5
-
142
-
-
34248163833
-
Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?
-
DOI 10.2478/s11658-006-0043-1
-
Miyamato T, Sato H, Yogev L, Kleiman S, Namiki M et al. Is a genetic defect in Fkbp6 a common cause of azoospermia in humans? Cell Mol Biol Lett 2006; 11: 557-69. (Pubitemid 46708881)
-
(2006)
Cellular and Molecular Biology Letters
, vol.11
, Issue.4
, pp. 557-569
-
-
Miyamato, T.1
Sato, H.2
Yogev, L.3
Kleiman, S.4
Namiki, M.5
Koh, E.6
Sakugawa, N.7
Hayashi, H.8
Ishikawa, M.9
Lamb, D.J.10
Sengoku, K.11
-
143
-
-
27944468303
-
Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia
-
DOI 10.1093/molehr/gah232
-
Westerveld GH, Repping S, Lombardi MP, van der Veen F. Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. Mol Hum Reprod 2005; 11: 673-5. (Pubitemid 41672247)
-
(2005)
Molecular Human Reproduction
, vol.11
, Issue.9
, pp. 673-675
-
-
Westerveld, G.H.1
Repping, S.2
Lombardi, M.P.3
Van Der Veen, F.4
-
144
-
-
0035724317
-
A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility
-
DOI 10.1046/j.1365-2265.2001.01308.x
-
Giwercman YL, Nikoshkov A, Byström B, Pousette A, Arver S et al. A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility. Clin Endocrinol (Oxf) 2001; 54: 827-34. (Pubitemid 34211029)
-
(2001)
Clinical Endocrinology
, vol.54
, Issue.6
, pp. 827-834
-
-
Giwercman, Y.L.1
Nikoshkov, A.2
Bystrom, B.3
Pousette, A.4
Arver, S.5
Wedell, A.6
-
145
-
-
0034458426
-
Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene
-
DOI 10.1210/jc.85.6.2253
-
Giwercman A, Kledal T, Schwartz M, Giwercman YL, Leffers H et al. Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene. J Clin Endocrinol Metab 2000; 85: 2253-9. (Pubitemid 32269251)
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, Issue.6
, pp. 2253-2259
-
-
Giwercman, A.1
Kledal, T.2
Schwartz, M.3
Giwercman, Y.L.4
Leffers, H.5
Zazzi, H.6
Wedell, A.7
Skakkebaek, N.E.8
-
146
-
-
42749092341
-
Some single nucleotide polymorphisms of MSY2 gene might contribute to susceptibility to spermatogenic impairment in idiopathic infertile men
-
Deng Y, Zhang W, Su D, Yang Y, Ma Y et al. Some single nucleotide polymorphisms of MSY2 gene might contribute to susceptibility to spermatogenic impairment in idiopathic infertile men. Urology 2008; 71: 878-82.
-
(2008)
Urology
, vol.71
, pp. 878-82
-
-
Deng, Y.1
Zhang, W.2
Su, D.3
Yang, Y.4
Ma, Y.5
-
147
-
-
63149113449
-
Sequence alterations in the YBX2 gene are associated with male factor infertility
-
Hammoud S, Emery BR, Dunn D, Weiss RB, Carrell DT. Sequence alterations in the YBX2 gene are associated with male factor infertility. Fertil Steril 2009; 91: 1090-5.
-
(2009)
Fertil Steril
, vol.91
, pp. 1090-5
-
-
Hammoud, S.1
Emery, B.R.2
Dunn, D.3
Weiss, R.B.4
Carrell, D.T.5
-
148
-
-
0036019001
-
Molecular genetics of male infertility: Stem cell factor/c-kit system
-
DOI 10.1034/j.1600-0897.2002.01095.x
-
Grimaldi P, Rossi P, Dolci S, Ripamonti CB, Geremia R. Molecular genetics of male infertility: stem cell factor/c-kit system. Am J Reprod Immunol 2002; 48: 27-33. (Pubitemid 34727372)
-
(2002)
American Journal of Reproductive Immunology
, vol.48
, Issue.1
, pp. 27-33
-
-
Grimaldi, P.1
Rossi, P.2
Dolci, S.3
Ripamonti, C.B.4
Geremia, R.5
-
149
-
-
33751374120
-
Association of genetic markers within the KIT and KITLG genes with human male infertility
-
DOI 10.1093/humrep/del313
-
Galan JJ, de Felici M, Buch B, Rivero MC, Segura A et al. Association of genetic markers within the KIT and KITLG genes with human male infertility. Hum Reprod 2006; 21: 3185-92. (Pubitemid 44811622)
-
(2006)
Human Reproduction
, vol.21
, Issue.12
, pp. 3185-3192
-
-
Galan, J.J.1
De Felici, M.2
Buch, B.3
Rivero, M.C.4
Segura, A.5
Royo, J.L.6
Cruz, N.7
Real, L.M.8
Ruiz, A.9
-
150
-
-
63149113449
-
Sequence alterations in the YBX2 gene are associated with male factor infertility
-
Hammoud S, Emery BR, Dunn D, Weiss RB, Carrell DT. Sequence alterations in the YBX2 gene are associated with male factor infertility. Fertil Steril 2009; 91: 1090-5.
-
(2009)
Fertil Steril
, vol.91
, pp. 1090-5
-
-
Hammoud, S.1
Emery, B.R.2
Dunn, D.3
Weiss, R.B.4
Carrell, D.T.5
-
151
-
-
42749092341
-
Some single nucleotide polymorphisms of MSY2 gene might contribute to susceptibility to spermatogenic impairment in idiopathic infertile men
-
Deng Y, Zhang W, Su D, Yang Y, Ma Y et al. Some single nucleotide polymorphisms of MSY2 gene might contribute to susceptibility to spermatogenic impairment in idiopathic infertile men. Urology 2008; 71: 878-2.
-
(2008)
Urology
, vol.71
, pp. 878-2
-
-
Deng, Y.1
Zhang, W.2
Su, D.3
Yang, Y.4
Ma, Y.5
-
152
-
-
61449236482
-
The will-of-The-wisp of genetics-hunting for the azoospermia factor gene
-
Tyler-Smith C, Krausz C. The will-of-the-wisp of genetics-hunting for the azoospermia factor gene. N Engl J Med 2009; 360: 925-7.
-
(2009)
N Engl J Med
, vol.360
, pp. 925-7
-
-
Tyler-Smith, C.1
Krausz, C.2
|