-
1
-
-
0032568005
-
Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome
-
Palermo GD, Schlegel PN, Sills ES, et al. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. N Engl J Med 1998;338:588-590
-
(1998)
N Engl J Med
, vol.338
, pp. 588-590
-
-
Palermo, G.D.1
Schlegel, P.N.2
Sills, E.S.3
-
2
-
-
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 2004;82:775-779
-
(2004)
Fertil Steril
, vol.82
, pp. 775-779
-
-
Denschlag, D.1
Tempfer, C.2
Kunze, M.3
Wolff, G.4
Keck, C.5
-
3
-
-
0034753407
-
Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome
-
Lowe X, Eskenazi B, Nelson DO, et al. Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. Am J Hum Genet 2001;69:1046-1054
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1046-1054
-
-
Lowe, X.1
Eskenazi, B.2
Nelson, D.O.3
-
4
-
-
0023682678
-
Klinefelter's syndrome: An analysis of the origin of the additional sex chromosome using molecular probes
-
Jacobs PA, Hassold TJ, Whittington E, et al. Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet 1988; 52(Pt 2):93-109
-
(1988)
Ann Hum Genet
, vol.52
, Issue.PART 2
, pp. 93-109
-
-
Jacobs, P.A.1
Hassold, T.J.2
Whittington, E.3
-
5
-
-
0036163776
-
Biopsied testis cells of four 47,XXY patients: Fluorescence in-situ hybridization and ICSI results
-
Bergere M, Wainer R, Nataf V, et al. Biopsied testis cells of four 47,XXY patients: fluorescence in-situ hybridization and ICSI results. Hum Reprod 2002;17:32-37
-
(2002)
Hum Reprod
, vol.17
, pp. 32-37
-
-
Bergere, M.1
Wainer, R.2
Nataf, V.3
-
6
-
-
0035014112
-
Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization
-
Blanco J, Egozcue J, Vidal F. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization. Hum Reprod 2001;16:887-892
-
(2001)
Hum Reprod
, vol.16
, pp. 887-892
-
-
Blanco, J.1
Egozcue, J.2
Vidal, F.3
-
7
-
-
0034998380
-
Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men
-
Shi Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 2001;121: 655-666
-
(2001)
Reproduction
, vol.121
, pp. 655-666
-
-
Shi, Q.1
Martin, R.H.2
-
8
-
-
23844484575
-
Recombination in men with Klinefelter syndrome
-
Gonsalves J, Turek PJ, Schlegel PN, et al. Recombination in men with Klinefelter syndrome. Reproduction 2005;130: 223-229
-
(2005)
Reproduction
, vol.130
, pp. 223-229
-
-
Gonsalves, J.1
Turek, P.J.2
Schlegel, P.N.3
-
9
-
-
0016758401
-
Social class and frequency of XYY and XXY
-
Walzer S, Gerald PS, Social class and frequency of XYY and XXY. Science 1975;190:1228-1229
-
(1975)
Science
, vol.190
, pp. 1228-1229
-
-
Walzer, S.1
Gerald, P.S.2
-
10
-
-
0032190869
-
47,XYY karyotype in acute myeloid leukemia
-
Palanduz S, Aktan M, Ozturk S, et al. 47,XYY karyotype in acute myeloid leukemia. Cancer Genet Cytogenet 1998;106: 76-77
-
(1998)
Cancer Genet Cytogenet
, vol.106
, pp. 76-77
-
-
Palanduz, S.1
Aktan, M.2
Ozturk, S.3
-
11
-
-
0034601120
-
Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature
-
Shi Q, Martin RH. Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature. Am J Med Genet 2000;93:40-46
-
(2000)
Am J Med Genet
, vol.93
, pp. 40-46
-
-
Shi, Q.1
Martin, R.H.2
-
12
-
-
0033910420
-
Fluorescence in-situ hybridization analysis of chromosomal constitution in spermatozoa from a mosaic 47,XYY/46,XY male
-
Wang JY, Samura O, Zhen DK, et al. Fluorescence in-situ hybridization analysis of chromosomal constitution in spermatozoa from a mosaic 47,XYY/46,XY male, Mol Hum Reprod 2000;6:665-668
-
(2000)
Mol Hum Reprod
, vol.6
, pp. 665-668
-
-
Wang, J.Y.1
Samura, O.2
Zhen, D.K.3
-
13
-
-
0028326061
-
A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 47,XYY male
-
Han TH, Ford JH, Flaherty SP, Webb GC, Matthews CD. A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 47,XYY male, Clin Genet 1994;45:67-70
-
(1994)
Clin Genet
, vol.45
, pp. 67-70
-
-
Han, T.H.1
Ford, J.H.2
Flaherty, S.P.3
Webb, G.C.4
Matthews, C.D.5
-
14
-
-
0020429592
-
Clinical, endocrinological, and cytological characterization of two 46, XX males
-
Schweikert HU, Weissbach L, Leyendecker G, et al. Clinical, endocrinological, and cytological characterization of two 46, XX males. J Clin Endocrinol Metab 1982;54:745-752
-
(1982)
J Clin Endocrinol Metab
, vol.54
, pp. 745-752
-
-
Schweikert, H.U.1
Weissbach, L.2
Leyendecker, G.3
-
15
-
-
0026603766
-
Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY
-
Van der Auwera B, Van Roy N, De Paepe A, et al. Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY. Hum Genet 1992;89:23-28
-
(1992)
Hum Genet
, vol.89
, pp. 23-28
-
-
Van der Auwera, B.1
Van Roy, N.2
De Paepe, A.3
-
16
-
-
0027491157
-
Mixed gonadal dysgenesis associated with unilateral cavernosal fibrosis and presenting as a cystic lower abdominal mass
-
Wegner HE, Klan R, Wegner RD, et al. Mixed gonadal dysgenesis associated with unilateral cavernosal fibrosis and presenting as a cystic lower abdominal mass. Eur Urol 1993; 24:428-430
-
(1993)
Eur Urol
, vol.24
, pp. 428-430
-
-
Wegner, H.E.1
Klan, R.2
Wegner, R.D.3
-
17
-
-
0036146591
-
Isolation of the human testatin gene and analysis in patients with abnormal gonadal development
-
Eriksson A, Tohonen V, Wedell A, Nordqvist K. Isolation of the human testatin gene and analysis in patients with abnormal gonadal development. Mol Hum Reprod 2002;8; 8-15
-
(2002)
Mol Hum Reprod
, vol.8
, pp. 8-15
-
-
Eriksson, A.1
Tohonen, V.2
Wedell, A.3
Nordqvist, K.4
-
18
-
-
33749561820
-
A novel human sex-determining gene linked to Xp11.21-11.23
-
Rajender S, Thangaraj K, Gupta NJ, et al. A novel human sex-determining gene linked to Xp11.21-11.23. J Clin Endocrinol Metab 2006;91:4028-4036
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4028-4036
-
-
Rajender, S.1
Thangaraj, K.2
Gupta, N.J.3
-
19
-
-
0030317035
-
Cytogenetics of infertile men
-
discussion 2-26
-
Van Assche E, Bonduelle M, Tournaye H, et al. Cytogenetics of infertile men. Hum Reprod 1996;11(Suppl 4): 1-24; discussion 2-26
-
(1996)
Hum Reprod
, vol.11
, Issue.SUPPL. 4
, pp. 1-24
-
-
Van Assche, E.1
Bonduelle, M.2
Tournaye, H.3
-
20
-
-
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 1976;34:119-124
-
(1976)
Hum Genet
, vol.34
, pp. 119-124
-
-
Tiepolo, L.1
Zuffardi, O.2
-
21
-
-
0007272350
-
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
-
Vogt PH, Edelmann A, Kirsch S, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11, Hum Mol Genet 1996;5:933-943
-
(1996)
Hum Mol Genet
, vol.5
, pp. 933-943
-
-
Vogt, P.H.1
Edelmann, A.2
Kirsch, S.3
-
22
-
-
0029871858
-
-
Reijo R, Alagappan RK, Patrizio P, Page DC, Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996;347:1290-1293
-
Reijo R, Alagappan RK, Patrizio P, Page DC, Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996;347:1290-1293
-
-
-
-
23
-
-
0031783420
-
Male infertility: Analysis of the markers and genes on the human Y chromosome
-
Kostiner DR, Turek PJ, Reijo RA. Male infertility: analysis of the markers and genes on the human Y chromosome, Hum Reprod 1998;13:3032-3038
-
(1998)
Hum Reprod
, vol.13
, pp. 3032-3038
-
-
Kostiner, D.R.1
Turek, P.J.2
Reijo, R.A.3
-
24
-
-
0035107689
-
The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells
-
Kleiman SE, Bar-Shira Maymon B, Yogev L, Paz G, Yavetz H. The prognostic role of the extent of Y microdeletion on spermatogenesis and maturity of Sertoli cells. Hum Reprod 2001;16:399-402
-
(2001)
Hum Reprod
, vol.16
, pp. 399-402
-
-
Kleiman, S.E.1
Bar-Shira Maymon, B.2
Yogev, L.3
Paz, G.4
Yavetz, H.5
-
25
-
-
0032727618
-
An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y
-
Sun C, Skaletsky H, Birren B, et al. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 1999;23:429-432
-
(1999)
Nat Genet
, vol.23
, pp. 429-432
-
-
Sun, C.1
Skaletsky, H.2
Birren, B.3
-
26
-
-
0034889045
-
Prognostic value of Y deletion analysis, The role of current methods
-
Foresta C, Moro E, Ferlin A. Prognostic value of Y deletion analysis, The role of current methods. Hum Reprod 2001;16:1543-1547
-
(2001)
Hum Reprod
, vol.16
, pp. 1543-1547
-
-
Foresta, C.1
Moro, E.2
Ferlin, A.3
-
27
-
-
0032852620
-
Absence of testicular DAZ gene expression in idiopathic severe testiculopathies
-
Ferlin A, Moro E, Onisto M, et al. Absence of testicular DAZ gene expression in idiopathic severe testiculopathies. Hum Reprod 1999;14:2286-2292
-
(1999)
Hum Reprod
, vol.14
, pp. 2286-2292
-
-
Ferlin, A.1
Moro, E.2
Onisto, M.3
-
28
-
-
0042123550
-
Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions
-
Hopps CV, Mielnik A, Goldstein M, et al. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod 2003;18: 1660-1665
-
(2003)
Hum Reprod
, vol.18
, pp. 1660-1665
-
-
Hopps, C.V.1
Mielnik, A.2
Goldstein, M.3
-
29
-
-
0032796205
-
Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection
-
Krausz C, Bussani-Mastellone C, Granchi S, et al. Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection. Hum Reprod 1999;14:1717-1721
-
(1999)
Hum Reprod
, vol.14
, pp. 1717-1721
-
-
Krausz, C.1
Bussani-Mastellone, C.2
Granchi, S.3
-
30
-
-
0034040911
-
Diagnostic findings from testis fine needle aspiration mapping in obstructed and nonobstructed azoospermic men
-
Turek PJ, Ljung BM, Cha I, Conaghan J, Diagnostic findings from testis fine needle aspiration mapping in obstructed and nonobstructed azoospermic men. J Urol 2000; 163:1709-1716
-
(2000)
J Urol
, vol.163
, pp. 1709-1716
-
-
Turek, P.J.1
Ljung, B.M.2
Cha, I.3
Conaghan, J.4
-
31
-
-
4143119042
-
Phenotypic characteristics of male subfertility and its familial occurrence
-
van Golde RJ, van der Avoort IA, Tuerlings JH, et al, Phenotypic characteristics of male subfertility and its familial occurrence, J Androl 2004;25:819-823
-
(2004)
J Androl
, vol.25
, pp. 819-823
-
-
van Golde, R.J.1
van der Avoort, I.A.2
Tuerlings, J.H.3
-
32
-
-
1242306489
-
AZF microdeletions of the Y chromosome and in vitro fertilization outcome
-
Choi JM, Chung P, Veeck L, et al. AZF microdeletions of the Y chromosome and in vitro fertilization outcome. Fertil Steril 2004;81:337-341
-
(2004)
Fertil Steril
, vol.81
, pp. 337-341
-
-
Choi, J.M.1
Chung, P.2
Veeck, L.3
-
33
-
-
2342460435
-
Embryo outcome in Y-chromosome microdeleted infertile males after ICSI
-
Kihaile PE, Kisanga RE, Aoki K, et al. Embryo outcome in Y-chromosome microdeleted infertile males after ICSI. Mol Reprod Dev 2004;68:176-181
-
(2004)
Mol Reprod Dev
, vol.68
, pp. 176-181
-
-
Kihaile, P.E.1
Kisanga, R.E.2
Aoki, K.3
-
34
-
-
0036852977
-
Clinical characterization of 42 Oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI
-
Gates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 Oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI, Hum Reprod 2002;17: 2813-2824
-
(2002)
Hum Reprod
, vol.17
, pp. 2813-2824
-
-
Gates, R.D.1
Silber, S.2
Brown, L.G.3
Page, D.C.4
-
35
-
-
0030914159
-
Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis; fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection
-
Mulhall JP, Reijo R, Alagappan R, et al. Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis; fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod 1997;12:503-508
-
(1997)
Hum Reprod
, vol.12
, pp. 503-508
-
-
Mulhall, J.P.1
Reijo, R.2
Alagappan, R.3
-
36
-
-
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, et al, Screening for deletions of the Y chromosome involving the DAZ (Deleted in Azoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril 1997;67:542-547
-
(1997)
Fertil Steril
, vol.67
, pp. 542-547
-
-
Simoni, M.1
Gromoll, J.2
Dworniczak, B.3
-
37
-
-
0021920705
-
Azoospermia and duplication 3qter as distinct consequences of a familial t(X;3) (q26;ql3.2)
-
Cantu JM, Diaz M, Moller M, et al. Azoospermia and duplication 3qter as distinct consequences of a familial t(X;3) (q26;ql3.2). Am J Med Genet 1985;20:677-684
-
(1985)
Am J Med Genet
, vol.20
, pp. 677-684
-
-
Cantu, J.M.1
Diaz, M.2
Moller, M.3
-
38
-
-
0020559402
-
Balanced structural changes involving the human X: Effect on sexual phenotype
-
Madan K, Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 1983;63:216-221
-
(1983)
Hum Genet
, vol.63
, pp. 216-221
-
-
Madan, K.1
-
39
-
-
0020367269
-
X-autosome translocations; cytogenetic characteristics and their consequences
-
Mattei MG, Mattel JF, Ayme S, Giraud F, X-autosome translocations; cytogenetic characteristics and their consequences, Hum Genet 1982;61:295-309
-
(1982)
Hum Genet
, vol.61
, pp. 295-309
-
-
Mattei, M.G.1
Mattel, J.F.2
Ayme, S.3
Giraud, F.4
-
40
-
-
16744367800
-
Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion
-
Nemeth AH, Gallen IW, Crocker M, Lew E, Maher E. Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion, J Med Genet 2002;39;E28
-
(2002)
J Med Genet
, vol.39
-
-
Nemeth, A.H.1
Gallen, I.W.2
Crocker, M.3
Lew, E.4
Maher, E.5
-
41
-
-
12444253523
-
Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation
-
Lee S, Lee SH, Chung TG, et al. Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation. J Assist Reprod Genet 2003;20:385-389
-
(2003)
J Assist Reprod Genet
, vol.20
, pp. 385-389
-
-
Lee, S.1
Lee, S.H.2
Chung, T.G.3
-
42
-
-
0035071815
-
An abundance of X-linked genes expressed in spermatogonia
-
Wang PJ, McCarrey JR, Yang F, Page DC. An abundance of X-linked genes expressed in spermatogonia, Nat Genet 2001;27:422-426
-
(2001)
Nat Genet
, vol.27
, pp. 422-426
-
-
Wang, P.J.1
McCarrey, J.R.2
Yang, F.3
Page, D.C.4
-
43
-
-
4043082235
-
X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility
-
Raverot G, Lejeune H, Kotlar T, Pugeat M, Jameson JL. X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility. J Clin Endocrinol Metab 2004;89:4146-4148
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4146-4148
-
-
Raverot, G.1
Lejeune, H.2
Kotlar, T.3
Pugeat, M.4
Jameson, J.L.5
-
44
-
-
0042566153
-
Mutational analysis of the human FATE gene in 144 infertile men
-
Olesen C, Silber J, Eiberg H, et al. Mutational analysis of the human FATE gene in 144 infertile men. Hum Genet 2003;113:195-201
-
(2003)
Hum Genet
, vol.113
, pp. 195-201
-
-
Olesen, C.1
Silber, J.2
Eiberg, H.3
-
45
-
-
0024329289
-
Putative transcription activator with alternative isoforms encoded by human ZEX gene
-
Schneider-Gadicke A, Beer-Romero P, Brown LG, et al Putative transcription activator with alternative isoforms encoded by human ZEX gene. Nature 1989;342:708-711
-
(1989)
Nature
, vol.342
, pp. 708-711
-
-
Schneider-Gadicke, A.1
Beer-Romero, P.2
Brown, L.G.3
-
46
-
-
0030806302
-
Zfx mutation results in small animal size and reduced germ cell number in male and female mice
-
Luoh SW, Bain PA, Polaldewicz RD, et al. Zfx mutation results in small animal size and reduced germ cell number in male and female mice. Development 1997;124:2275-2284
-
(1997)
Development
, vol.124
, pp. 2275-2284
-
-
Luoh, S.W.1
Bain, P.A.2
Polaldewicz, R.D.3
-
47
-
-
0031691345
-
Pulsatile GnRH or human chorionic gonadotropin/human menopausal gonadotropin as effective treatment for men with hypogonadotropic hypogonadism: A review of 42 cases
-
Buchter D, Behre HM, Kliesch S, Nieschlag E. Pulsatile GnRH or human chorionic gonadotropin/human menopausal gonadotropin as effective treatment for men with hypogonadotropic hypogonadism: a review of 42 cases. Eur J Endocrinol 1998;139:298-303
-
(1998)
Eur J Endocrinol
, vol.139
, pp. 298-303
-
-
Buchter, D.1
Behre, H.M.2
Kliesch, S.3
Nieschlag, E.4
-
49
-
-
17144439793
-
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
-
Layman LC, Cohen DP, Jin M, et al. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nat Genet 1998;18: 14-15
-
(1998)
Nat Genet
, vol.18
, pp. 14-15
-
-
Layman, L.C.1
Cohen, D.P.2
Jin, M.3
-
50
-
-
0026642442
-
Brief report: Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
-
Bick D, Franco B, Sherins RJ, et al. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med 1992;326:1752-1755
-
(1992)
N Engl J Med
, vol.326
, pp. 1752-1755
-
-
Bick, D.1
Franco, B.2
Sherins, R.J.3
-
51
-
-
0028818621
-
Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis
-
Guo W, Burris TP, McCabe ER. Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med 1995;56: 8-13
-
(1995)
Biochem Mol Med
, vol.56
, pp. 8-13
-
-
Guo, W.1
Burris, T.P.2
McCabe, E.R.3
-
52
-
-
0030949271
-
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
-
Jackson RS, Creemers JW, Ohagi S, et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 1997; 16:303-306
-
(1997)
Nat Genet
, vol.16
, pp. 303-306
-
-
Jackson, R.S.1
Creemers, J.W.2
Ohagi, S.3
-
53
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dode C, Levilliers J, Dupont JM, et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003;33:463-465
-
(2003)
Nat Genet
, vol.33
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
-
54
-
-
17744373868
-
The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics
-
Oliveira LM, Seminara SB, Beranova M, et al. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab 2001;86:1532-1538
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 1532-1538
-
-
Oliveira, L.M.1
Seminara, S.B.2
Beranova, M.3
-
55
-
-
0025258480
-
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY
-
Jager RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 1990;348:452-454
-
(1990)
Nature
, vol.348
, pp. 452-454
-
-
Jager, R.J.1
Anvret, M.2
Hall, K.3
Scherer, G.4
-
56
-
-
0026655944
-
Sex determination and sex reversal: Genotype, phenotype, dogma and semantics
-
Mittwoch U. Sex determination and sex reversal: genotype, phenotype, dogma and semantics. Hum Genet 1992;89:467-479
-
(1992)
Hum Genet
, vol.89
, pp. 467-479
-
-
Mittwoch, U.1
-
57
-
-
0025250731
-
Genetic evidence equating SRY and the testis-determining factor
-
Berta P, Hawkins JR, Sinclair AH, et al. Genetic evidence equating SRY and the testis-determining factor. Nature 1990;348:448-450
-
(1990)
Nature
, vol.348
, pp. 448-450
-
-
Berta, P.1
Hawkins, J.R.2
Sinclair, A.H.3
-
58
-
-
0025364886
-
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
-
Sinclair AH, Berta P, Palmer MS, et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990;346:240-244
-
(1990)
Nature
, vol.346
, pp. 240-244
-
-
Sinclair, A.H.1
Berta, P.2
Palmer, M.S.3
-
59
-
-
0031796372
-
Role of Ahch in gonadal development and gametogenesis
-
Yu RN, Ito M, Saunders TL, Camper SA, Jameson JL. Role of Ahch in gonadal development and gametogenesis. Nat Genet 1998;20:353-357
-
(1998)
Nat Genet
, vol.20
, pp. 353-357
-
-
Yu, R.N.1
Ito, M.2
Saunders, T.L.3
Camper, S.A.4
Jameson, J.L.5
-
60
-
-
35748965278
-
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells
-
Ottolenghi C, Pelosi E, Tran J, et al. Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells. Hum Mol Genet 2007;16:2795-2804
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2795-2804
-
-
Ottolenghi, C.1
Pelosi, E.2
Tran, J.3
-
61
-
-
0029792944
-
The genetics of male infertility
-
discussion 1256-1247
-
Mak V, Jarvi KA, The genetics of male infertility. J Urol 1996;156:1245-1256; discussion 1256-1247
-
(1996)
J Urol
, vol.156
, pp. 1245-1256
-
-
Mak, V.1
Jarvi, K.A.2
-
62
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245: 1073-1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
-
63
-
-
1542502598
-
Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis
-
Danziger KL, Black LD, Keiles SB, Kammesheidt A, Turek PJ. Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis. Hum Reprod 2004;19: 540-546
-
(2004)
Hum Reprod
, vol.19
, pp. 540-546
-
-
Danziger, K.L.1
Black, L.D.2
Keiles, S.B.3
Kammesheidt, A.4
Turek, P.J.5
-
64
-
-
4243649599
-
Genetics of male subfertility: Consequences for the clinical work-up
-
Kupker W, Schwinger E, Hiort O, et al. Genetics of male subfertility: consequences for the clinical work-up. Hum Reprod 1999;14(Suppl l):24-37
-
(1999)
Hum Reprod
, vol.14
, Issue.SUPPL. L
, pp. 24-37
-
-
Kupker, W.1
Schwinger, E.2
Hiort, O.3
-
65
-
-
0021902998
-
Congenital absence of the vasa deferentia presenting with infertility
-
Jequier AM, Ansell ID, Bullimore NJ. Congenital absence of the vasa deferentia presenting with infertility. J Androl 1985; 6:15-19
-
(1985)
J Androl
, vol.6
, pp. 15-19
-
-
Jequier, A.M.1
Ansell, I.D.2
Bullimore, N.J.3
-
66
-
-
1842291516
-
Detection of 100% of the CFTR mutations in 63 CF families from Tyrol
-
Stuhrmann M, Dork T, Fruhwirth M, et al. Detection of 100% of the CFTR mutations in 63 CF families from Tyrol. Clin Genet 1997;52:240-246
-
(1997)
Clin Genet
, vol.52
, pp. 240-246
-
-
Stuhrmann, M.1
Dork, T.2
Fruhwirth, M.3
-
67
-
-
34547448305
-
Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility
-
Xu WM, Shi QX, Chen WY, et al. Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility. Proc Natl Acad Sci U S A 2007; 104:9816-9821
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 9816-9821
-
-
Xu, W.M.1
Shi, Q.X.2
Chen, W.Y.3
-
68
-
-
0031397371
-
The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland
-
Donat R, McNeill AS, Fitzpatrick DR, Hargreave TB. The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland, Br J Urol 1997;79:74-77
-
(1997)
Br J Urol
, vol.79
, pp. 74-77
-
-
Donat, R.1
McNeill, A.S.2
Fitzpatrick, D.R.3
Hargreave, T.B.4
-
69
-
-
0033979258
-
Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection
-
Phillipson GT, Petrucco OM, Matthews CD. Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection, Hum Reprod 2000;15:431-435
-
(2000)
Hum Reprod
, vol.15
, pp. 431-435
-
-
Phillipson, G.T.1
Petrucco, O.M.2
Matthews, C.D.3
-
70
-
-
0033404141
-
Evidence of mild respiratory disease in men with congenital absence of the vas deferens
-
Castellani C, Bonizzato A, Pradal U, et al. Evidence of mild respiratory disease in men with congenital absence of the vas deferens. Respir Med 1999;93:869-875
-
(1999)
Respir Med
, vol.93
, pp. 869-875
-
-
Castellani, C.1
Bonizzato, A.2
Pradal, U.3
-
71
-
-
0035722764
-
CFTR-opathies': Disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
-
Noone PG, Knowles MR. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001;2:328-332
-
(2001)
Respir Res
, vol.2
, pp. 328-332
-
-
Noone, P.G.1
Knowles, M.R.2
-
72
-
-
0027521663
-
A mutation in CFTR produces different phenotypes depending on chromosomal background
-
Kiesewetter S, Macek MJr, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993;5:274-278
-
(1993)
Nat Genet
, vol.5
, pp. 274-278
-
-
Kiesewetter, S.1
MJr, M.2
Davis, C.3
-
73
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993;3:151-156
-
(1993)
Nat Genet
, vol.3
, pp. 151-156
-
-
Chu, C.S.1
Trapnell, B.C.2
Curristin, S.3
Cutting, G.R.4
Crystal, R.G.5
-
74
-
-
0029086620
-
Congenital unilateral absence of the vas deferens: A heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene
-
Mickle J, Milunsky A, Amos JA, Gates RD. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod 1995;10:1728-1735
-
(1995)
Hum Reprod
, vol.10
, pp. 1728-1735
-
-
Mickle, J.1
Milunsky, A.2
Amos, J.A.3
Gates, R.D.4
-
75
-
-
0035137296
-
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: Phenotypic findings and genetic considerations
-
McCallum T, Milunsky J, Munarriz R, et al. Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. Hum Reprod 2001;16:282-288
-
(2001)
Hum Reprod
, vol.16
, pp. 282-288
-
-
McCallum, T.1
Milunsky, J.2
Munarriz, R.3
-
76
-
-
0029019461
-
Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia
-
Jarvi K, Zielenski J, Wilschanski M, et al. Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet 1995;345:1578
-
(1995)
Lancet
, vol.345
, pp. 1578
-
-
Jarvi, K.1
Zielenski, J.2
Wilschanski, M.3
-
77
-
-
0033015591
-
Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively
-
Shkolny DL, Beitel LK, Ginsberg J, et al. Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. J Clin Endocrinol Metab 1999;84:805-810
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 805-810
-
-
Shkolny, D.L.1
Beitel, L.K.2
Ginsberg, J.3
-
78
-
-
0018341415
-
Androgen insensitivity as a cause of infertility in otherwise normal men
-
Aiman J, Griffin JE, Gazak JM, Wilson JD, MacDonald PC. Androgen insensitivity as a cause of infertility in otherwise normal men, N Engl J Med 1979;300:223-227
-
(1979)
N Engl J Med
, vol.300
, pp. 223-227
-
-
Aiman, J.1
Griffin, J.E.2
Gazak, J.M.3
Wilson, J.D.4
MacDonald, P.C.5
-
79
-
-
0028023193
-
Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene
-
Yong EL, Ng SC, Roy AC, Yun G, Ratnam SS. Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene. Lancet 1994;344: 826-827
-
(1994)
Lancet
, vol.344
, pp. 826-827
-
-
Yong, E.L.1
Ng, S.C.2
Roy, A.C.3
Yun, G.4
Ratnam, S.S.5
-
80
-
-
0023154197
-
Mapping of the gene for anti-mullerian hormone to the short arm of human chromosome 19
-
Cohen-Haguenauer O, Picard JY, Mattei MG, et al. Mapping of the gene for anti-mullerian hormone to the short arm of human chromosome 19. Cytogenet Cell Genet 1987;44:2-6
-
(1987)
Cytogenet Cell Genet
, vol.44
, pp. 2-6
-
-
Cohen-Haguenauer, O.1
Picard, J.Y.2
Mattei, M.G.3
-
81
-
-
0028118823
-
Molecular genetics of the persistent mullerian duct syndrome: A study of 19 families
-
Imbeaud S, Carre-Eusebe D, Rey R, et al. Molecular genetics of the persistent mullerian duct syndrome: a study of 19 families. Hum Mol Genet 1994;3:125-131
-
(1994)
Hum Mol Genet
, vol.3
, pp. 125-131
-
-
Imbeaud, S.1
Carre-Eusebe, D.2
Rey, R.3
-
82
-
-
0028972867
-
Insensitivity to antimullerian hormone due to a mutation in the human antimullerian hormone receptor
-
Imbeaud S, Faure E, Lamarre I, et al. Insensitivity to antimullerian hormone due to a mutation in the human antimullerian hormone receptor. Nat Genet 1995;11:382-388
-
(1995)
Nat Genet
, vol.11
, pp. 382-388
-
-
Imbeaud, S.1
Faure, E.2
Lamarre, I.3
-
83
-
-
0033304740
-
Targeted disruption of the Insl3 gene causes bilateral cryptorchidism
-
Zimmermann S, Steding G, Emmen JM, et al. Targeted disruption of the Insl3 gene causes bilateral cryptorchidism, Mol Endocrinol 1999;13:681-691
-
(1999)
Mol Endocrinol
, vol.13
, pp. 681-691
-
-
Zimmermann, S.1
Steding, G.2
Emmen, J.M.3
-
84
-
-
0034527582
-
Insulin-like 3/ relaxin-like factor gene mutations are associated with cryptorchidism
-
Tomboc M, Lee PA, Mitwally MF, et al. Insulin-like 3/ relaxin-like factor gene mutations are associated with cryptorchidism. J Clin Endocrinol Metab 2000;85;4013-4018
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 4013-4018
-
-
Tomboc, M.1
Lee, P.A.2
Mitwally, M.F.3
-
85
-
-
0029099989
-
Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis
-
Baker SM, Bronner CE, Zhang L, et al. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 1995;82:309-319
-
(1995)
Cell
, vol.82
, pp. 309-319
-
-
Baker, S.M.1
Bronner, C.E.2
Zhang, L.3
-
86
-
-
0034035318
-
Increased frequency of mutations in DNA from infertile men with meiotic arrest
-
Nudell D, Castillo M, Turek PJ, Pera RR. Increased frequency of mutations in DNA from infertile men with meiotic arrest. Hum Reprod 2000;15:1289-1294
-
(2000)
Hum Reprod
, vol.15
, pp. 1289-1294
-
-
Nudell, D.1
Castillo, M.2
Turek, P.J.3
Pera, R.R.4
-
87
-
-
0344838590
-
Microsatellite instability and defects in mismatch repair proteins: A new aetiology for Sertoli cell-only syndrome
-
Maduro MR, Casella R, Kim E, et al. Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome, Mol Hum Reprod 2003;9:61-68
-
(2003)
Mol Hum Reprod
, vol.9
, pp. 61-68
-
-
Maduro, M.R.1
Casella, R.2
Kim, E.3
-
88
-
-
33845746387
-
An evolutionary view of human recombination
-
Coop G, Przeworski M. An evolutionary view of human recombination. Nad Rev 2007;8:23-34
-
(2007)
Nad Rev
, vol.8
, pp. 23-34
-
-
Coop, G.1
Przeworski, M.2
-
89
-
-
0035319804
-
To err (meiotically) is human: The genesis of human aneuploidy
-
Hassold T, Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Natl Rev 2001;2:280-291
-
(2001)
Natl Rev
, vol.2
, pp. 280-291
-
-
Hassold, T.1
Hunt, P.2
-
90
-
-
8944232867
-
Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over
-
Baker SM, Plug AW, Prolla TA, et al. Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over, Nat Genet 1996;13:336-342
-
(1996)
Nat Genet
, vol.13
, pp. 336-342
-
-
Baker, S.M.1
Plug, A.W.2
Prolla, T.A.3
-
91
-
-
0037150706
-
Covariation of synaptonemal complex length and mammalian meiotic exchange rates
-
Lynn A, Koehler KE, Judis L, et al. Covariation of synaptonemal complex length and mammalian meiotic exchange rates. Science 2002;296:2222-2225
-
(2002)
Science
, vol.296
, pp. 2222-2225
-
-
Lynn, A.1
Koehler, K.E.2
Judis, L.3
-
92
-
-
0242361471
-
MLH1p and MLH3p localize to precociously induced chiasmata of okadaic-acid-treated mouse spermatocytes
-
Marcon E, Moens P. MLH1p and MLH3p localize to precociously induced chiasmata of okadaic-acid-treated mouse spermatocytes. Genetics 2003;165:2283-2287
-
(2003)
Genetics
, vol.165
, pp. 2283-2287
-
-
Marcon, E.1
Moens, P.2
-
93
-
-
0347356254
-
-
judis L, Chan ER, Schwartz S, Seftel A, Hassold T, Meiosis I arrest and azoospermia in an infertile male explained by failure of formation of a component of the synaptonemal complex, Fertil Steril 2004;81:205-209
-
judis L, Chan ER, Schwartz S, Seftel A, Hassold T, Meiosis I arrest and azoospermia in an infertile male explained by failure of formation of a component of the synaptonemal complex, Fertil Steril 2004;81:205-209
-
-
-
-
94
-
-
9444239304
-
Defective recombination in infertile men
-
Gonsalves J, Sun F, Schlegel PN, et al. Defective recombination in infertile men, Hum Mol Genet 2004;13: 2875-2883
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2875-2883
-
-
Gonsalves, J.1
Sun, F.2
Schlegel, P.N.3
-
95
-
-
33751368660
-
Synaptic defects at meiosis I and non-obstructive azoospermia
-
Topping D, Brown P, Judis L, et al. Synaptic defects at meiosis I and non-obstructive azoospermia. Hum Reprod 2006;21:3171-3177
-
(2006)
Hum Reprod
, vol.21
, pp. 3171-3177
-
-
Topping, D.1
Brown, P.2
Judis, L.3
-
96
-
-
26244437300
-
Immunofluorescent synaptonemal complex analysis in azoospermic men
-
Sun F, Greene C, Turek PJ, et al. Immunofluorescent synaptonemal complex analysis in azoospermic men. Cytogenet Genome Res 2005;111:366-370
-
(2005)
Cytogenet Genome Res
, vol.111
, pp. 366-370
-
-
Sun, F.1
Greene, C.2
Turek, P.J.3
-
97
-
-
33749565760
-
Analysis of noncrossover bivalents in pachytene cells from 10 normal men
-
Sun F, Oliver-Bonet M, Liehr T, et al. Analysis of noncrossover bivalents in pachytene cells from 10 normal men. Hum Reprod 2006;21:2335-2339
-
(2006)
Hum Reprod
, vol.21
, pp. 2335-2339
-
-
Sun, F.1
Oliver-Bonet, M.2
Liehr, T.3
-
98
-
-
33747891214
-
Variation in MLH1 distribution in recombination maps for individual chromosomes from human males
-
Sun F, Oliver-Bonet M, Liehr T, et al. Variation in MLH1 distribution in recombination maps for individual chromosomes from human males. Hum Mol Genet 2006;15:2376-2391
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2376-2391
-
-
Sun, F.1
Oliver-Bonet, M.2
Liehr, T.3
-
99
-
-
40849083277
-
The relative accuracy of a questionnaire compared with pedigree analysis in genetic risk assessment for infertility
-
Kaplan KD, Brown M, Croughan MS, Turek PJ. The relative accuracy of a questionnaire compared with pedigree analysis in genetic risk assessment for infertility. J Urol 2008; 179:1499-1505
-
(2008)
J Urol
, vol.179
, pp. 1499-1505
-
-
Kaplan, K.D.1
Brown, M.2
Croughan, M.S.3
Turek, P.J.4
|