-
1
-
-
2942596251
-
Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome
-
Abdelmoula NB, Amouri A, Portnoi MF, Saad A, Boudawara T, Mhiri MN, Bahloul A, Rebai T. Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter's syndrome. Ann Genet 2004;47:163-175.
-
(2004)
Ann Genet
, vol.47
, pp. 163-175
-
-
Abdelmoula, N.B.1
Amouri, A.2
Portnoi, M.F.3
Saad, A.4
Boudawara, T.5
Mhiri, M.N.6
Bahloul, A.7
Rebai, T.8
-
2
-
-
0030948448
-
XXY (Klinefelter syndrome) and 47 XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling
-
Abramsky L, Chapple J. 47,XXY (Klinefelter syndrome) and 47,XYY: Estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenat Diagn 1997;17:363-368.
-
(1997)
Prenat Diagn
, vol.17
, pp. 363-368
-
-
Abramsky, L.1
Chapple, J.2
-
3
-
-
0036272394
-
Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome
-
Adamson KA, Cross I, Batch JA, Rappold GA, Glass IA, Ball SG. Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome. Clin Endocrinol (Oxf) 2002; 56:671-675.
-
(2002)
Clin Endocrinol (Oxf)
, vol.56
, pp. 671-675
-
-
Adamson, K.A.1
Cross, I.2
Batch, J.A.3
Rappold, G.A.4
Glass, I.A.5
Ball, S.G.6
-
4
-
-
29544435187
-
Natural history of seminiferous tubule degeneration in Klinefelter syndrome
-
Aksglaede L, Wikstrom AM, Rajpert-De Meyts E, Dunkel L, Skakkebaek NE, Juul A. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Hum Reprod Update 2006; 12:39-48.
-
(2006)
Hum Reprod Update
, vol.12
, pp. 39-48
-
-
Aksglaede, L.1
Wikstrom, A.M.2
Rajpert-De Meyts, E.3
Dunkel, L.4
Skakkebaek, N.E.5
Juul, A.6
-
5
-
-
38149011320
-
Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47 XXY 47 XYY, or sex-determining region of the Y chromosome (SRY)-positive 46 XX karyotypes
-
Aksglaede L, Skakkebaek NE, Juul A. Abnormal sex chromosome constitution and longitudinal growth: Serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes. J Clin Endocrinol Metab 2008;93:169-176.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 169-176
-
-
Aksglaede, L.1
Skakkebaek, N.E.2
Juul, A.3
-
6
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-1239.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
7
-
-
33749052931
-
Acromegaloidism with normal growth hormone secretion associated with X-tetrasomy
-
Alvarez-Vazquez P, Rivera A, Figueroa I, Paramo C, Garcia-Mayor RV. Acromegaloidism with normal growth hormone secretion associated with X-tetrasomy. Pituitary 2006;9:145-149.
-
(2006)
Pituitary
, vol.9
, pp. 145-149
-
-
Alvarez-Vazquez, P.1
Rivera, A.2
Figueroa, I.3
Paramo, C.4
Garcia-Mayor, R.V.5
-
8
-
-
31544471424
-
Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6 13 18 21 22 X and Y
-
Arnedo N, Templado C, Sanchez-Blanque Y, Rajmil O, Nogues C. Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y. Hum Reprod 2006;21:524-528.
-
(2006)
Hum Reprod
, vol.21
, pp. 524-528
-
-
Arnedo, N.1
Templado, C.2
Sanchez-Blanque, Y.3
Rajmil, O.4
Nogues, C.5
-
9
-
-
0029816921
-
Isochromosome Xq in Klinefelter syndrome: report of 7 new cases
-
Arps S, Koske-Westphal T, Meinecke P, Meschede D, Nieschlag E, Harprecht W, Steuber E, Back E, Wolff G, Kerber S et al. Isochromosome Xq in Klinefelter syndrome: Report of 7 new cases. Am J Med Genet 1996;64:580-582.
-
(1996)
Am J Med Genet
, vol.64
, pp. 580-582
-
-
Arps, S.1
Koske-Westphal, T.2
Meinecke, P.3
Meschede, D.4
Nieschlag, E.5
Harprecht, W.6
Steuber, E.7
Back, E.8
Wolff, G.9
Kerber, S.10
-
10
-
-
33646046176
-
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization
-
Ballif BC, Kashork CD, Saleki R, Rorem E, Sundin K, Bejjani BA, Shaffer LG. Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat Diagn 2006;26:333-339.
-
(2006)
Prenat Diagn
, vol.26
, pp. 333-339
-
-
Ballif, B.C.1
Kashork, C.D.2
Saleki, R.3
Rorem, E.4
Sundin, K.5
Bejjani, B.A.6
Shaffer, L.G.7
-
11
-
-
85045484695
-
A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis
-
Barr ML, Bertram EG. A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature 1949;163:676.
-
(1949)
Nature
, vol.163
, pp. 676
-
-
Barr, M.L.1
Bertram, E.G.2
-
12
-
-
33646529396
-
The pseudoautosomal regions SHOX and disease
-
Blaschke RJ, Rappold G. The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev 2006;16:233-239.
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 233-239
-
-
Blaschke, R.J.1
Rappold, G.2
-
13
-
-
34147152346
-
Klinefelter syndrome in clinical practice
-
Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 2007;4:192-204.
-
(2007)
Nat Clin Pract Urol
, vol.4
, pp. 192-204
-
-
Bojesen, A.1
Gravholt, C.H.2
-
14
-
-
0037326103
-
Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study
-
Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study. J Clin Endocrinol Metab 2003;88:622-626.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 622-626
-
-
Bojesen, A.1
Juul, S.2
Gravholt, C.H.3
-
16
-
-
33646059921
-
Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses
-
Bojesen A, Juul S, Birkebaek NH, Gravholt CH. Morbidity in Klinefelter syndrome: A Danish register study based on hospital discharge diagnoses. J Clin Endocrinol Metab 2006;91:1254-1260.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 1254-1260
-
-
Bojesen, A.1
Juul, S.2
Birkebaek, N.H.3
Gravholt, C.H.4
-
17
-
-
58549102320
-
Turner syndrome 2008
-
Bondy CA. Turner syndrome 2008. Horm Res 2009;71(Suppl. 1):52-56.
-
(2009)
Horm Res
, vol.71
, Issue.SUPPL. 1
, pp. 52-56
-
-
Bondy, C.A.1
-
18
-
-
65349193344
-
Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies
-
Busque L, Paquette Y, Provost S, Roy DC, Levine RL, Mollica L, Gilliland DG. Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies. Blood 2009;113:3472-3474.
-
(2009)
Blood
, vol.113
, pp. 3472-3474
-
-
Busque, L.1
Paquette, Y.2
Provost, S.3
Roy, D.C.4
Levine, R.L.5
Mollica, L.6
Gilliland, D.G.7
-
19
-
-
0024211563
-
Klinefelter's syndrome in Sardinia and Scotland. Comparative studies of parental age and other aetiological factors in 47, XXY
-
Carothers AD, Filippi G. Klinefelter's syndrome in Sardinia and Scotland. Comparative studies of parental age and other aetiological factors in 47,XXY. Hum Genet 1988;81:71-75.
-
(1988)
Hum Genet
, vol.81
, pp. 71-75
-
-
Carothers, A.D.1
Filippi, G.2
-
20
-
-
15244353967
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females
-
Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005;434:400-404.
-
(2005)
Nature
, vol.434
, pp. 400-404
-
-
Carrel, L.1
Willard, H.F.2
-
22
-
-
13944257741
-
Sex chromosomes: evolution of the weird and wonderful
-
Charlesworth D, Charlesworth B. Sex chromosomes: Evolution of the weird and wonderful. Curr Biol 2005;15:R129-R131.
-
(2005)
Curr Biol
, vol.15
-
-
Charlesworth, D.1
Charlesworth, B.2
-
23
-
-
36049028660
-
Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome
-
Choe JH, Kim JW, Lee JS, Seo JT. Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome. Asian J Androl 2007;9:815-820.
-
(2007)
Asian J Androl
, vol.9
, pp. 815-820
-
-
Choe, J.H.1
Kim, J.W.2
Lee, J.S.3
Seo, J.T.4
-
24
-
-
0032426216
-
Trinucleotide repeats in the human androgen receptor: a molecular basis for disease
-
Choong CS, Wilson EM. Trinucleotide repeats in the human androgen receptor: A molecular basis for disease. J Mol Endocrinol 1998;21:235-257.
-
(1998)
J Mol Endocrinol
, vol.21
, pp. 235-257
-
-
Choong, C.S.1
Wilson, E.M.2
-
25
-
-
66049083160
-
X inactivation and the complexities of silencing a sex chromosome
-
Chow J, Heard E. X inactivation and the complexities of silencing a sex chromosome. Curr Opin Cell Biol 2009;21:359-366.
-
(2009)
Curr Opin Cell Biol
, vol.21
, pp. 359-366
-
-
Chow, J.1
Heard, E.2
-
26
-
-
33644871069
-
The biallelic expression pattern of X-linked genes in Klinefelter syndrome by pyrosequencing
-
Chung IH, Lee HC, Park JH, Ko JJ, Lee SH, Chung TG, Kim HJ, Cha KY, Lee S. The biallelic expression pattern of X-linked genes in Klinefelter syndrome by pyrosequencing. Am J Med Genet A 2006;140:527-532.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 527-532
-
-
Chung, I.H.1
Lee, H.C.2
Park, J.H.3
Ko, J.J.4
Lee, S.H.5
Chung, T.G.6
Kim, H.J.7
Cha, K.Y.8
Lee, S.9
-
27
-
-
35948969182
-
Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis
-
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;92:4319-4326.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 4319-4326
-
-
Davis-Dao, C.A.1
Tuazon, E.D.2
Sokol, R.Z.3
Cortessis, V.K.4
-
28
-
-
0030877094
-
Gehron Robey P, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome
-
Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 1997;6:1341-1347.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1341-1347
-
-
Ellison, J.W.1
Wardak, Z.2
Young, M.F.3
-
29
-
-
0036125857
-
Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome
-
Eskenazi B, Wyrobek AJ, Kidd SA, Lowe X, Moore D II, Weisiger K, Aylstock M. Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome. Hum Reprod 2002;17:576-583.
-
(2002)
Hum Reprod
, vol.17
, pp. 576-583
-
-
Eskenazi, B.1
Wyrobek, A.J.2
Kidd, S.A.3
Lowe, X.4
Moore, D.5
Weisiger, I.I.6
Aylstock, K.M.7
-
30
-
-
34447276865
-
Rapid detection of sex chromosomal aneuploidies by QF-PCR: application in 200 men with severe oligozoospermia or azoospermia
-
Fodor F, Kamory E, Csokay B, Kopa Z, Kiss A, Lantos I, Tisza T. Rapid detection of sex chromosomal aneuploidies by QF-PCR: Application in 200 men with severe oligozoospermia or azoospermia. Genet Test 2007;11:139-145.
-
(2007)
Genet Test
, vol.11
, pp. 139-145
-
-
Fodor, F.1
Kamory, E.2
Csokay, B.3
Kopa, Z.4
Kiss, A.5
Lantos, I.6
Tisza, T.7
-
31
-
-
0033305420
-
Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome
-
Foresta C, Galeazzi C, Bettella A, Marin P, Rossato M, Garolla A, Ferlin A. Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. J Clin Endocrinol Metab 1999; 84:3807-3810.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3807-3810
-
-
Foresta, C.1
Galeazzi, C.2
Bettella, A.3
Marin, P.4
Rossato, M.5
Garolla, A.6
Ferlin, A.7
-
32
-
-
0027089750
-
Identification of a second pseudoautosomal region near the Xq and Yq telomeres
-
Freije D, Helms C, Watson MS, Donis-Keller H. Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science 1992; 258:1784-1787.
-
(1992)
Science
, vol.258
, pp. 1784-1787
-
-
Freije, D.1
Helms, C.2
Watson, M.S.3
Donis-Keller, H.4
-
33
-
-
33644761962
-
Sex chromosome specialization and degeneration in mammals
-
Graves JA. Sex chromosome specialization and degeneration in mammals. Cell 2006;124:901-914.
-
(2006)
Cell
, vol.124
, pp. 901-914
-
-
Graves, J.A.1
-
34
-
-
70449106134
-
Genetic association between AZF region polymorphism and Klinefelter syndrome
-
Hadjkacem-Loukil L, Ghorbel M, Bahloul A, Ayadi H, Ammar-Keskes L. Genetic association between AZF region polymorphism and Klinefelter syndrome. Reprod Biomed Online 2009;19:547-551.
-
(2009)
Reprod Biomed Online
, vol.19
, pp. 547-551
-
-
Hadjkacem-Loukil, L.1
Ghorbel, M.2
Bahloul, A.3
Ayadi, H.4
Ammar-Keskes, L.5
-
35
-
-
18444403124
-
Counselling following the prenatal diagnosis of Klinefelter syndrome: comparisons between geneticists and obstetricians in five European countries
-
Hall S, Marteau TM, Limbert C, Reid M, Feijoo M, Soares M, Nippert I, Bobrow M, Cameron A, Van Diem M et al. Counselling following the prenatal diagnosis of Klinefelter syndrome: Comparisons between geneticists and obstetricians in five European countries. Community Genet 2001;4:233-238.
-
(2001)
Community Genet
, vol.4
, pp. 233-238
-
-
Hall, S.1
Marteau, T.M.2
Limbert, C.3
Reid, M.4
Feijoo, M.5
Soares, M.6
Nippert, I.7
Bobrow, M.8
Cameron, A.9
Van Diem, M.10
-
36
-
-
33646513961
-
Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneuploidy; how aneuploidy causes meiotic errors
-
Hall H, Hunt P, Hassold T. Meiosis and sex chromosome aneuploidy: How meiotic errors cause aneuploidy; how aneuploidy causes meiotic errors. Curr Opin Genet Dev 2006;16:323-329.
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 323-329
-
-
Hall, H.1
Hunt, P.2
Hassold, T.3
-
37
-
-
4043083448
-
Parental decisions following the prenatal diagnosis of sex chromosome abnormalities
-
Hamamy HA, Dahoun S. Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. Eur J Obstet Gynecol Reprod Biol 2004;116:58-62.
-
(2004)
Eur J Obstet Gynecol Reprod Biol
, vol.116
, pp. 58-62
-
-
Hamamy, H.A.1
Dahoun, S.2
-
38
-
-
0025567028
-
The parental origin of 47,XXY males
-
Harvey J, Jacobs PA, Hassold T, Pettay D. The parental origin of 47,XXY males. Birth Defects Orig Artic Ser 1990;26:289-296.
-
(1990)
Birth Defects Orig Artic Ser
, vol.26
, pp. 289-296
-
-
Harvey, J.1
Jacobs, P.A.2
Hassold, T.3
Pettay, D.4
-
39
-
-
34247603568
-
The human pseudoautosomal region (PAR): origin, function and future
-
Helena Mangs A, Morris BJ. The human pseudoautosomal region (PAR): Origin, function and future. Curr Genomics 2007;8:129-136.
-
(2007)
Curr Genomics
, vol.8
, pp. 129-136
-
-
Helena Mangs, A.1
Morris, B.J.2
-
40
-
-
53249098415
-
Is paternal age playing a role in the changing prevalence of Klinefelter syndrome?
-
author reply 1174
-
Herlihy AS, Halliday J. Is paternal age playing a role in the changing prevalence of Klinefelter syndrome? Eur J Hum Genet 2008; 16:1173-1174, author reply 1174.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1173-1174
-
-
Herlihy, A.S.1
Halliday, J.2
-
41
-
-
0036146428
-
The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome
-
Hickey T, Chandy A, Norman RJ. The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome. J Clin Endocrinol Metab 2002;87:161-165.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 161-165
-
-
Hickey, T.1
Chandy, A.2
Norman, R.J.3
-
42
-
-
55149094309
-
Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant
-
Höckner M, Pinggera GM, Gunther B, Sergi C, Fauth C, Erdel M, Kotzot D. Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant. Fertil Steril 2008; 90:2009.e13-2009.e17.
-
(2008)
Fertil Steril
, vol.90
-
-
Höckner, M.1
Pinggera, G.M.2
Gunther, B.3
Sergi, C.4
Fauth, C.5
Erdel, M.6
Kotzot, D.7
-
43
-
-
0019442758
-
Rates of chromosome abnormalities at different maternal ages
-
Hook EB. Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol 1981;58:282-285.
-
(1981)
Obstet Gynecol
, vol.58
, pp. 282-285
-
-
Hook, E.B.1
-
44
-
-
0002418993
-
The frequency of chromosome abnormalities detected in consecutive newborn studies-differences between studies, results by sex and severity of phenotypic involvement
-
Porter IH, Hook EB (eds). New York: National Academy Press
-
Hook EB, Hamerton JL. The frequency of chromosome abnormalities detected in consecutive newborn studies-differences between studies, results by sex and severity of phenotypic involvement. In: Porter IH, Hook EB (eds). Population Cytogenetics. New York: National Academy Press, 1977, 63-79.
-
(1977)
Population Cytogenetics
, pp. 63-79
-
-
Hook, E.B.1
Hamerton, J.L.2
-
45
-
-
0035152359
-
Evidence of skewed X-chromosome inactivation in 47,XXY and 48 XXYY Klinefelter patients
-
Iitsuka Y, Bock A, Nguyen DD, Samango-Sprouse CA, Simpson JL, Bischoff FZ. Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients. Am J Med Genet 2001;98:25-31.
-
(2001)
Am J Med Genet
, vol.98
, pp. 25-31
-
-
Iitsuka, Y.1
Bock, A.2
Nguyen, D.D.3
Samango-Sprouse, C.A.4
Simpson, J.L.5
Bischoff, F.Z.6
-
46
-
-
33747686159
-
A case of human intersexuality having a possible XXY sex-determining mechanism
-
Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 1959;183:302-303.
-
(1959)
Nature
, vol.183
, pp. 302-303
-
-
Jacobs, P.A.1
Strong, J.A.2
-
47
-
-
0023682678
-
Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes
-
Jacobs PA, Hassold TJ, Whittington E, Butler G, Collyer S, Keston M, Lee M. Klinefelter's syndrome: An analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet 1988;52:93-109.
-
(1988)
Ann Hum Genet
, vol.52
, pp. 93-109
-
-
Jacobs, P.A.1
Hassold, T.J.2
Whittington, E.3
Butler, G.4
Collyer, S.5
Keston, M.6
Lee, M.7
-
48
-
-
67949089685
-
Evidence of Xist RNA-independent initiation of mouse imprinted X-chromosome inactivation
-
Kalantry S, Purushothaman S, Bowen RB, Starmer J, Magnuson T. Evidence of Xist RNA-independent initiation of mouse imprinted X-chromosome inactivation. Nature 2009;460:647-651.
-
(2009)
Nature
, vol.460
, pp. 647-651
-
-
Kalantry, S.1
Purushothaman, S.2
Bowen, R.B.3
Starmer, J.4
Magnuson, T.5
-
49
-
-
0242472011
-
Clinical and diagnostic features of patients with suspected Klinefelter syndrome
-
Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 2003;24:41-48.
-
(2003)
J Androl
, vol.24
, pp. 41-48
-
-
Kamischke, A.1
Baumgardt, A.2
Horst, J.3
Nieschlag, E.4
-
50
-
-
1842862796
-
Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes
-
Kanaka-Gantenbein C, Kitsiou S, Mavrou A, Stamoyannou L, Kolialexi A, Kekou K, Liakopoulou M, Chrousos G. Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: Offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes. Horm Res 2004;61:205-210.
-
(2004)
Horm Res
, vol.61
, pp. 205-210
-
-
Kanaka-Gantenbein, C.1
Kitsiou, S.2
Mavrou, A.3
Stamoyannou, L.4
Kolialexi, A.5
Kekou, K.6
Liakopoulou, M.7
Chrousos, G.8
-
51
-
-
85003166195
-
Syndrome characterized by gynecomastia, aspermatogenesis without Leydigism, increased excretion of follicle stimulating hormone
-
Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia, aspermatogenesis without Leydigism, increased excretion of follicle stimulating hormone. J Clin Endocrinol 1942;2:615-627.
-
(1942)
J Clin Endocrinol
, vol.2
, pp. 615-627
-
-
Klinefelter, H.F.1
Reifenstein, E.C.2
Albright, F.3
-
52
-
-
34548415848
-
Clinical comparison of successful and failed microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome
-
Koga M, Tsujimura A, Takeyama M, Kiuchi H, Takao T, Miyagawa Y, Takada S, Matsumiya K, Fujioka H, Okamoto Y et al. Clinical comparison of successful and failed microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome. Urology 2007;70:341-345.
-
(2007)
Urology
, vol.70
, pp. 341-345
-
-
Koga, M.1
Tsujimura, A.2
Takeyama, M.3
Kiuchi, H.4
Takao, T.5
Miyagawa, Y.6
Takada, S.7
Matsumiya, K.8
Fujioka, H.9
Okamoto, Y.10
-
53
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
55
-
-
20344371912
-
Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome
-
Lenz P, Luetjens CM, Kamischke A, Kuhnert B, Kennerknecht I, Nieschlag E. Mosaic status in lymphocytes of infertile men with or without Klinefelter syndrome. Hum Reprod 2005;20:1248-1255.
-
(2005)
Hum Reprod
, vol.20
, pp. 1248-1255
-
-
Lenz, P.1
Luetjens, C.M.2
Kamischke, A.3
Kuhnert, B.4
Kennerknecht, I.5
Nieschlag, E.6
-
56
-
-
57649237968
-
Impaired recognition memory in male mice with a supernumerary X chromosome
-
Lewejohann L, Damm OS, Luetjens CM, Hamalainen T, Simoni M, Nieschlag E, Gromoll J, Wistuba J. Impaired recognition memory in male mice with a supernumerary X chromosome. Physiol Behav 2009; 96:23-29.
-
(2009)
Physiol Behav
, vol.96
, pp. 23-29
-
-
Lewejohann, L.1
Damm, O.S.2
Luetjens, C.M.3
Hamalainen, T.4
Simoni, M.5
Nieschlag, E.6
Gromoll, J.7
Wistuba, J.8
-
58
-
-
0026705388
-
Reduced recombination and paternal age effect in Klinefelter syndrome
-
Lorda-Sanchez I, Binkert F, Maechler M, Robinson WP, Schinzel AA. Reduced recombination and paternal age effect in Klinefelter syndrome. Hum Genet 1992;89:524-530.
-
(1992)
Hum Genet
, vol.89
, pp. 524-530
-
-
Lorda-Sanchez, I.1
Binkert, F.2
Maechler, M.3
Robinson, W.P.4
Schinzel, A.A.5
-
59
-
-
0035046095
-
XXY male mice: an experimental model for Klinefelter syndrome
-
Lue Y, Rao PN, Sinha Hikim AP, Im M, Salameh WA, Yen PH, Wang C, Swerdloff RS. XXY male mice: An experimental model for Klinefelter syndrome. Endocrinology 2001;142:1461-1470.
-
(2001)
Endocrinology
, vol.142
, pp. 1461-1470
-
-
Lue, Y.1
Rao, P.N.2
Sinha Hikim, A.P.3
Im, M.4
Salameh, W.A.5
Yen, P.H.6
Wang, C.7
Swerdloff, R.S.8
-
60
-
-
0036069742
-
Sperm aneuploidy rates in younger and older men
-
Luetjens CM, Rolf C, Gassner P, Werny JE, Nieschlag E. Sperm aneuploidy rates in younger and older men. Hum Reprod 2002;17:1826-1832.
-
(2002)
Hum Reprod
, vol.17
, pp. 1826-1832
-
-
Luetjens, C.M.1
Rolf, C.2
Gassner, P.3
Werny, J.E.4
Nieschlag, E.5
-
61
-
-
7144223296
-
Gene action in the X-chromosome of the mouse (Mus musculus L )
-
Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961;190:372-373.
-
(1961)
Nature
, vol.190
, pp. 372-373
-
-
Lyon, M.F.1
-
62
-
-
0028030585
-
The origin of 47,XXY and 47 XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination
-
MacDonald M, Hassold T, Harvey J, Wang LH, Morton NE, Jacobs P. The origin of 47,XXY and 47,XXX aneuploidy: Heterogeneous mechanisms and role of aberrant recombination. Hum Mol Genet 1994; 3:1365-1371.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1365-1371
-
-
MacDonald, M.1
Hassold, T.2
Harvey, J.3
Wang, L.H.4
Morton, N.E.5
Jacobs, P.6
-
63
-
-
0035990110
-
. Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals
-
Marteau TM, Nippert I, Hall S, Limbert C, Reid M, Bobrow M, Cameron A, Cornel M, van Diem M, Eiben B et al. Outcomes of pregnancies diagnosed with Klinefelter syndrome: The possible influence of health professionals. Prenat Diagn 2002;22:562-566.
-
(2002)
Prenat Diagn
, vol.22
, pp. 562-566
-
-
Marteau, T.M.1
Nippert, I.2
Hall, S.3
Limbert, C.4
Reid, M.5
Bobrow, M.6
Cameron, A.7
Cornel, M.8
van Diem, M.9
Eiben, B.10
-
64
-
-
42449129317
-
Meiotic errors in human oogenesis and spermatogenesis
-
Martin RH. Meiotic errors in human oogenesis and spermatogenesis. Reprod Biomed Online 2008;16:523-531.
-
(2008)
Reprod Biomed Online
, vol.16
, pp. 523-531
-
-
Martin, R.H.1
-
65
-
-
0031796916
-
Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies
-
Meschede D, Louwen F, Nippert I, Holzgreve W, Miny P, Horst J. Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies. Am J Med Genet 1998;80:330-334.
-
(1998)
Am J Med Genet
, vol.80
, pp. 330-334
-
-
Meschede, D.1
Louwen, F.2
Nippert, I.3
Holzgreve, W.4
Miny, P.5
Horst, J.6
-
66
-
-
30444455444
-
Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome
-
Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK. Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome. Asian J Androl 2006;8:81-88.
-
(2006)
Asian J Androl
, vol.8
, pp. 81-88
-
-
Mitra, A.1
Dada, R.2
Kumar, R.3
Gupta, N.P.4
Kucheria, K.5
Gupta, S.K.6
-
67
-
-
38849194689
-
X inactivation counting and choice is a stochastic process: evidence for involvement of an X-linked activator
-
Monkhorst K, Jonkers I, Rentmeester E, Grosveld F, Gribnau J. X inactivation counting and choice is a stochastic process: Evidence for involvement of an X-linked activator. Cell 2008;132:410-421.
-
(2008)
Cell
, vol.132
, pp. 410-421
-
-
Monkhorst, K.1
Jonkers, I.2
Rentmeester, E.3
Grosveld, F.4
Gribnau, J.5
-
68
-
-
66049107193
-
The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties
-
Monkhorst K, de Hoon B, Jonkers I, Mulugeta Achame E, Monkhorst W, Hoogerbrugge J, Rentmeester E, Westerhoff HV, Grosveld F, Grootegoed JA et al. The probability to initiate X chromosome inactivation is determined by the X to autosomal ratio and X chromosome specific allelic properties. PLoS One 2009;4:e5616.
-
(2009)
PLoS One
, vol.4
-
-
Monkhorst, K.1
de Hoon, B.2
Jonkers, I.3
Mulugeta Achame, E.4
Monkhorst, W.5
Hoogerbrugge, J.6
Rentmeester, E.7
Westerhoff, H.V.8
Grosveld, F.9
Grootegoed, J.A.10
-
70
-
-
77950246786
-
CAG repeat number is not inversely associated with androgen receptor activity in vitro
-
Nenonen H, Bjork C, Skjaerpe PA, Giwercman A, Rylander L, Svartberg J, Giwercman YL. CAG repeat number is not inversely associated with androgen receptor activity in vitro. Mol Hum Reprod 2010;16:153-157.
-
(2010)
Mol Hum Reprod
, vol.16
, pp. 153-157
-
-
Nenonen, H.1
Bjork, C.2
Skjaerpe, P.A.3
Giwercman, A.4
Rylander, L.5
Svartberg, J.6
Giwercman, Y.L.7
-
72
-
-
0025542292
-
Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark
-
Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser 1990;26:209-223.
-
(1990)
Birth Defects Orig Artic Ser
, vol.26
, pp. 209-223
-
-
Nielsen, J.1
Wohlert, M.2
-
73
-
-
58949084776
-
Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage
-
Nishi MY, Correa RV, Costa EM, Billerbeck AE, Cruzes AL, Domenice S, Carvalho LR, Mendonca BB. Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage. Arq Bras Endocrinol Metabol 2008;52:1282-1287.
-
(2008)
Arq Bras Endocrinol Metabol
, vol.52
, pp. 1282-1287
-
-
Nishi, M.Y.1
Correa, R.V.2
Costa, E.M.3
Billerbeck, A.E.4
Cruzes, A.L.5
Domenice, S.6
Carvalho, L.R.7
Mendonca, B.B.8
-
74
-
-
35048853189
-
A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene
-
Ottesen AM, Garn ID, Aksglaede L, Juul A, Rajpert-De Meyts E. A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene. Mol Hum Reprod 2007;13:745-750.
-
(2007)
Mol Hum Reprod
, vol.13
, pp. 745-750
-
-
Ottesen, A.M.1
Garn, I.D.2
Aksglaede, L.3
Juul, A.4
Rajpert-De Meyts, E.5
-
75
-
-
0242625903
-
Molecular barr bodies: methylation-specific PCR of the human X-linked gene FMR-1 for diagnosis of Klinefelter syndrome
-
author reply 809
-
Pena SD, Sturzeneker R. Molecular barr bodies: Methylation-specific PCR of the human X-linked gene FMR-1 for diagnosis of Klinefelter syndrome. J Androl 2003;24:809, author reply 810.
-
(2003)
J Androl
, vol.24
, pp. 810
-
-
Pena, S.D.1
Sturzeneker, R.2
-
76
-
-
57749107521
-
Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications
-
Plaseski T, Noveski P, Trivodalieva S, Efremov GD, Plaseska-Karanfilska D. Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications. Genet Test 2008;12:595-605.
-
(2008)
Genet Test
, vol.12
, pp. 595-605
-
-
Plaseski, T.1
Noveski, P.2
Trivodalieva, S.3
Efremov, G.D.4
Plaseska-Karanfilska, D.5
-
77
-
-
73949144105
-
Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome
-
Poplinski A, Wieacker P, Kliesch S, Gromoll J. Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome. Eur J Endocrinol 2010;162:169-175.
-
(2010)
Eur J Endocrinol
, vol.162
, pp. 169-175
-
-
Poplinski, A.1
Wieacker, P.2
Kliesch, S.3
Gromoll, J.4
-
78
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54-63.
-
(1997)
Nat Genet
, vol.16
, pp. 54-63
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
Rump, A.4
Niesler, B.5
Mertz, A.6
Muroya, K.7
Binder, G.8
Kirsch, S.9
Winkelmann, M.10
-
79
-
-
0027437257
-
The pseudoautosomal regions of the human sex chromosomes
-
Rappold GA. The pseudoautosomal regions of the human sex chromosomes. Hum Genet 1993;92:315-324.
-
(1993)
Hum Genet
, vol.92
, pp. 315-324
-
-
Rappold, G.A.1
-
80
-
-
15244363491
-
The DNA sequence of the human X chromosome
-
Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP et al. The DNA sequence of the human X chromosome. Nature 2005;434:325-337.
-
(2005)
Nature
, vol.434
, pp. 325-337
-
-
Ross, M.T.1
Grafham, D.V.2
Coffey, A.J.3
Scherer, S.4
McLay, K.5
Muzny, D.6
Platzer, M.7
Howell, G.R.8
Burrows, C.9
Bird, C.P.10
-
81
-
-
33745778703
-
Methylation of two Homo sapiens-specific X-Y homologous genes in Klinefelter's syndrome (XXY)
-
Ross NL, Wadekar R, Lopes A, Dagnall A, Close J, Delisi LE, Crow TJ. Methylation of two Homo sapiens-specific X-Y homologous genes in Klinefelter's syndrome (XXY). Am J Med Genet B Neuropsychiatr Genet 2006;141B:544-548.
-
(2006)
Am J Med Genet B Neuropsychiatr Genet
, vol.141 B
, pp. 544-548
-
-
Ross, N.L.1
Wadekar, R.2
Lopes, A.3
Dagnall, A.4
Close, J.5
Delisi, L.E.6
Crow, T.J.7
-
82
-
-
40449140662
-
Cognitive and motor development during childhood in boys with Klinefelter syndrome
-
Ross JL, Roeltgen DP, Stefanatos G, Benecke R, Zeger MP, Kushner H, Ramos P, Elder FF, Zinn AR. Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet A 2008;146A:708-719.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 708-719
-
-
Ross, J.L.1
Roeltgen, D.P.2
Stefanatos, G.3
Benecke, R.4
Zeger, M.P.5
Kushner, H.6
Ramos, P.7
Elder, F.F.8
Zinn, A.R.9
-
83
-
-
0034843903
-
Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation
-
Samango-Sprouse C. Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): Effects of incomplete X inactivation. Semin Reprod Med 2001;19:193-202.
-
(2001)
Semin Reprod Med
, vol.19
, pp. 193-202
-
-
Samango-Sprouse, C.1
-
84
-
-
65849285253
-
Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes
-
Sawalha AH, Harley JB, Scofield RH. Autoimmunity and Klinefelter's syndrome: When men have two X chromosomes. J Autoimmun 2009;33:31-34.
-
(2009)
J Autoimmun
, vol.33
, pp. 31-34
-
-
Sawalha, A.H.1
Harley, J.B.2
Scofield, R.H.3
-
85
-
-
27744462460
-
Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome
-
Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab 2005;90:6263-6267.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 6263-6267
-
-
Schiff, J.D.1
Palermo, G.D.2
Veeck, L.L.3
Goldstein, M.4
Rosenwaks, Z.5
Schlegel, P.N.6
-
86
-
-
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, Coco R, Solari AJ. Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients. Hum Reprod 2009; 24:2353-2360.
-
(2009)
Hum Reprod
, vol.24
, pp. 2353-2360
-
-
Sciurano, R.B.1
Luna Hisano, C.V.2
Rahn, M.I.3
Brugo Olmedo, S.4
Rey Valzacchi, G.5
Coco, R.6
Solari, A.J.7
-
87
-
-
49449099801
-
Klinefelter's syndrome (47 XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome
-
Scofield RH, Bruner GR, Namjou B, Kimberly RP, Ramsey-Goldman R, Petri M, Reveille JD, Alarcon GS, Vila LM, Reid J et al. Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: Support for the notion of a gene-dose effect from the X chromosome. Arthritis Rheum 2008;58:2511-2517.
-
(2008)
Arthritis Rheum
, vol.58
, pp. 2511-2517
-
-
Scofield, R.H.1
Bruner, G.R.2
Namjou, B.3
Kimberly, R.P.4
Ramsey-Goldman, R.5
Petri, M.6
Reveille, J.D.7
Alarcon, G.S.8
Vila, L.M.9
Reid, J.10
-
88
-
-
56349118441
-
The X in sex: how autoimmune diseases revolve around sex chromosomes
-
Selmi C. The X in sex: How autoimmune diseases revolve around sex chromosomes. Best Pract Res Clin Rheumatol 2008;22:913-922.
-
(2008)
Best Pract Res Clin Rheumatol
, vol.22
, pp. 913-922
-
-
Selmi, C.1
-
89
-
-
0033762221
-
Age- and tissue-specific variation of X chromosome inactivation ratios in normal women
-
Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet 2000; 107:343-349.
-
(2000)
Hum Genet
, vol.107
, pp. 343-349
-
-
Sharp, A.1
Robinson, D.2
Jacobs, P.3
-
90
-
-
39749137055
-
Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience
-
Simoni M, Tüttelmann F, Gromoll J, Nieschlag E. Clinical consequences of microdeletions of the Y chromosome: The extended Münster experience. Reprod Biomed Online 2008;16:289-303.
-
(2008)
Reprod Biomed Online
, vol.16
, pp. 289-303
-
-
Simoni, M.1
Tüttelmann, F.2
Gromoll, J.3
Nieschlag, E.4
-
91
-
-
10744225919
-
Klinefelter syndrome: expanding the phenotype and identifying new research directions
-
Simpson JL, de la Cruz F, Swerdloff RS, Samango-Sprouse C, Skakkebaek NE, Graham JM Jr, Hassold T, Aylstock M, Meyer-Bahlburg HF, Willard HF et al. Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Genet Med 2003;5:460-468.
-
(2003)
Genet Med
, vol.5
, pp. 460-468
-
-
Simpson, J.L.1
de la Cruz, F.2
Swerdloff, R.S.3
Samango-Sprouse, C.4
Skakkebaek, N.E.5
Graham J.M., Jr.6
Hassold, T.7
Aylstock, M.8
Meyer-Bahlburg, H.F.9
Willard, H.F.10
-
92
-
-
70350435734
-
Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes
-
Simsek PO, Utine GE, Alikasifoglu A, Alanay Y, Boduroglu K, Kandemir N. Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes. Turk J Pediatr 2009;51:294-297.
-
(2009)
Turk J Pediatr
, vol.51
, pp. 294-297
-
-
Simsek, P.O.1
Utine, G.E.2
Alikasifoglu, A.3
Alanay, Y.4
Boduroglu, K.5
Kandemir, N.6
-
93
-
-
0042524435
-
PGD in 47,XXY Klinefelter's syndrome patients
-
Staessen C, Tournaye H, Van Assche E, Michiels A, Van Landuyt L, Devroey P, Liebaers I, Van Steirteghem A. PGD in 47,XXY Klinefelter's syndrome patients. Hum Reprod Update 2003;9:319-330.
-
(2003)
Hum Reprod Update
, vol.9
, pp. 319-330
-
-
Staessen, C.1
Tournaye, H.2
Van Assche, E.3
Michiels, A.4
Van Landuyt, L.5
Devroey, P.6
Liebaers, I.7
Van Steirteghem, A.8
-
94
-
-
33746905141
-
Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases
-
Stemkens D, Roza T, Verrij L, Swaab H, van Werkhoven MK, Alizadeh BZ, Sinke RJ, Giltay JC. Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases. Clin Genet 2006;70:43-48.
-
(2006)
Clin Genet
, vol.70
, pp. 43-48
-
-
Stemkens, D.1
Roza, T.2
Verrij, L.3
Swaab, H.4
van Werkhoven, M.K.5
Alizadeh, B.Z.6
Sinke, R.J.7
Giltay, J.C.8
-
95
-
-
33749561387
-
Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome
-
Stochholm K, Juul S, Juel K, Naeraa RW, Gravholt CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab 2006;91:3897-3902.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3897-3902
-
-
Stochholm, K.1
Juul, S.2
Juel, K.3
Naeraa, R.W.4
Gravholt, C.H.5
-
96
-
-
0035171510
-
X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications
-
Sudbrak R, Wieczorek G, Nuber UA, Mann W, Kirchner R, Erdogan F, Brown CJ, Wohrle D, Sterk P, Kalscheuer VM et al. X chromosome-specific cDNA arrays: Identification of genes that escape from X-inactivation and other applications. Hum Mol Genet 2001;10:77-83.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 77-83
-
-
Sudbrak, R.1
Wieczorek, G.2
Nuber, U.A.3
Mann, W.4
Kirchner, R.5
Erdogan, F.6
Brown, C.J.7
Wohrle, D.8
Sterk, P.9
Kalscheuer, V.M.10
-
97
-
-
0034889049
-
Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis
-
Suzuki Y, Sasagawa I, Tateno T, Ashida J, Nakada T, Muroya K, Ogata T. Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis. Hum Reprod 2001;16:1653-1656.
-
(2001)
Hum Reprod
, vol.16
, pp. 1653-1656
-
-
Suzuki, Y.1
Sasagawa, I.2
Tateno, T.3
Ashida, J.4
Nakada, T.5
Muroya, K.6
Ogata, T.7
-
98
-
-
28744448247
-
United Kingdom Clinical Cytogenetics Group Mortality in patients with Klinefelter syndrome in Britain: a cohort study
-
Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA, United Kingdom Clinical Cytogenetics Group. Mortality in patients with Klinefelter syndrome in Britain: A cohort study. J Clin Endocrinol Metab 2005;90:6516-6522.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 6516-6522
-
-
Swerdlow, A.J.1
Higgins, C.D.2
Schoemaker, M.J.3
Wright, A.F.4
Jacobs, P.A.5
-
99
-
-
54049113081
-
Hematopoiesis is not clonal in healthy elderly women
-
Swierczek SI, Agarwal N, Nussenzveig RH, Rothstein G, Wilson A, Artz A, Prchal JT. Hematopoiesis is not clonal in healthy elderly women. Blood 2008;112:3186-3193.
-
(2008)
Blood
, vol.112
, pp. 3186-3193
-
-
Swierczek, S.I.1
Agarwal, N.2
Nussenzveig, R.H.3
Rothstein, G.4
Wilson, A.5
Artz, A.6
Prchal, J.T.7
-
100
-
-
44849133641
-
A new look at XXYY syndrome: medical and psychological features
-
Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J et al. A new look at XXYY syndrome: Medical and psychological features. Am J Med Genet A 2008;146A:1509-1522.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1509-1522
-
-
Tartaglia, N.1
Davis, S.2
Hench, A.3
Nimishakavi, S.4
Beauregard, R.5
Reynolds, A.6
Fenton, L.7
Albrecht, L.8
Ross, J.9
Visootsak, J.10
-
101
-
-
0042023557
-
Aberrant recombination and the origin of Klinefelter syndrome
-
Thomas NS, Hassold TJ. Aberrant recombination and the origin of Klinefelter syndrome. Hum Reprod Update 2003;9:309-317.
-
(2003)
Hum Reprod Update
, vol.9
, pp. 309-317
-
-
Thomas, N.S.1
Hassold, T.J.2
-
102
-
-
84892281696
-
Classification of andrological disorders
-
Nieschlag E, Behre HM, Nieschlag S (eds). Springer: Heidelberg
-
Tüttelmann F, Nieschlag E. Classification of andrological disorders. In: Nieschlag E, Behre HM, Nieschlag S (eds). Andrology: Male Reproductive Health and Dysfunction. Springer: Heidelberg, 2009, 87-92.
-
(2009)
Andrology: Male Reproductive Health and Dysfunction
, pp. 87-92
-
-
Tüttelmann, F.1
Nieschlag, E.2
-
105
-
-
0030317035
-
Cytogenetics of infertile men
-
Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A, Liebaers I. Cytogenetics of infertile men. Hum Reprod 1996;11(Suppl. 4):1-24.
-
(1996)
Hum Reprod
, 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
-
106
-
-
34548677043
-
Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition
-
Vawter MP, Harvey PD, DeLisi LE. Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition. Am J Med Genet B Neuropsychiatr Genet 2007;144B:728-734.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144 B
, pp. 728-734
-
-
Vawter, M.P.1
Harvey, P.D.2
DeLisi, L.E.3
-
107
-
-
0035661671
-
Cytogenetic investigations of infertile men with low sperm counts: a 25-year experience
-
discussion 44-45
-
Vincent MC, Daudin M, De Mas P, Massat G, Mieusset R, Pontonnier F, Calvas P, Bujan L, Bourrouillout G. Cytogenetic investigations of infertile men with low sperm counts: A 25-year experience. J Androl 2002;23:18-22, discussion 44-45.
-
(2002)
J Androl
, vol.23
, pp. 18-22
-
-
Vincent, M.C.1
Daudin, M.2
De Mas, P.3
Massat, G.4
Mieusset, R.5
Pontonnier, F.6
Calvas, P.7
Bujan, L.8
Bourrouillout, G.9
-
108
-
-
0035214974
-
Klinefelter syndrome and its variants: an update and review for the primary pediatrician
-
Visootsak J, Aylstock M, Graham JM Jr. Klinefelter syndrome and its variants: An update and review for the primary pediatrician. Clin Pediatr (Phila) 2001;40:639-651.
-
(2001)
Clin Pediatr (Phila)
, vol.40
, pp. 639-651
-
-
Visootsak, J.1
Aylstock, M.2
Graham J.M., Jr.3
-
109
-
-
34548776061
-
Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients
-
Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab 2007;92:3458-3465.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3458-3465
-
-
Vorona, E.1
Zitzmann, M.2
Gromoll, J.3
Schüring, A.N.4
Nieschlag, E.5
-
110
-
-
44949190511
-
Testicular function in Klinefelter syndrome
-
Wikström AM, Dunkel L. Testicular function in Klinefelter syndrome. Horm Res 2008;69:317-326.
-
(2008)
Horm Res
, vol.69
, pp. 317-326
-
-
Wikström, A.M.1
Dunkel, L.2
-
111
-
-
33745201592
-
Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome
-
Wikström AM, Painter JN, Raivio T, Aittomaki K, Dunkel L. Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome. Clin Endocrinol (Oxf) 2006;65:92-97.
-
(2006)
Clin Endocrinol (Oxf)
, vol.65
, pp. 92-97
-
-
Wikström, A.M.1
Painter, J.N.2
Raivio, T.3
Aittomaki, K.4
Dunkel, L.5
-
112
-
-
34347403863
-
Replication profile of PCDH11X and PCDH11Y, a gene pair located in the non-pseudoautosomal homologous region Xq21.3/Yp11.2
-
Wilson ND, Ross LJ, Close J, Mott R, Crow TJ, Volpi EV. Replication profile of PCDH11X and PCDH11Y, a gene pair located in the non-pseudoautosomal homologous region Xq21.3/Yp11.2. Chromosome Res 2007;15:485-498.
-
(2007)
Chromosome Res
, vol.15
, pp. 485-498
-
-
Wilson, N.D.1
Ross, L.J.2
Close, J.3
Mott, R.4
Crow, T.J.5
Volpi, E.V.6
-
113
-
-
77953931323
-
Animal models for Klinefelter's syndrome and their relevance for the clinic
-
(in press)
-
Wistuba J. Animal models for Klinefelter's syndrome and their relevance for the clinic. Mol Hum Reprod 2010 (in press).
-
(2010)
Mol Hum Reprod
-
-
Wistuba, J.1
-
114
-
-
77953923415
-
Options for fertility preservation in prepubertal boys.
-
Epub ahead of Print January 4, 2010
-
Wyns C, Curaba M, Vanabelle B, Van Langendonckt A, Donnez J. Options for fertility preservation in prepubertal boys. Hum Reprod Update 2010; Epub ahead of Print January 4, 2010.
-
(2010)
Hum Reprod Update
-
-
Wyns, C.1
Curaba, M.2
Vanabelle, B.3
Van Langendonckt, A.4
Donnez, J.5
-
115
-
-
68249116518
-
TESE-ICSI in patients with non-mosaic Klinefelter syndrome: a comparative study
-
Yarali H, Polat M, Bozdag G, Gunel M, Alpas I, Esinler I, Dogan U, Tiras B. TESE-ICSI in patients with non-mosaic Klinefelter syndrome: A comparative study. Reprod Biomed Online 2009;18:756-760.
-
(2009)
Reprod Biomed Online
, vol.18
, pp. 756-760
-
-
Yarali, H.1
Polat, M.2
Bozdag, G.3
Gunel, M.4
Alpas, I.5
Esinler, I.6
Dogan, U.7
Tiras, B.8
-
116
-
-
41849084831
-
Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome
-
Zeger MP, Zinn AR, Lahlou N, Ramos P, Kowal K, Samango-Sprouse C, Ross JL. Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome. J Pediatr 2008;152:716-722.
-
(2008)
J Pediatr
, vol.152
, pp. 716-722
-
-
Zeger, M.P.1
Zinn, A.R.2
Lahlou, N.3
Ramos, P.4
Kowal, K.5
Samango-Sprouse, C.6
Ross, J.L.7
-
117
-
-
24344490751
-
Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome
-
Zinn AR, Ramos P, Elder FF, Kowal K, Samango-Sprouse C, Ross JL. Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. J Clin Endocrinol Metab 2005;90:5041-5046.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 5041-5046
-
-
Zinn, A.R.1
Ramos, P.2
Elder, F.F.3
Kowal, K.4
Samango-Sprouse, C.5
Ross, J.L.6
-
118
-
-
59849123606
-
The role of the CAG repeat androgen receptor polymorphism in andrology
-
Zitzmann M. The role of the CAG repeat androgen receptor polymorphism in andrology. Front Horm Res 2009;37:52-61.
-
(2009)
Front Horm Res
, vol.37
, pp. 52-61
-
-
Zitzmann, M.1
-
119
-
-
77953920640
-
Clinical and therapeutic aspects of KS: fertility
-
(in press)
-
Zitzmann M, Kliesch S. Clinical and therapeutic aspects of KS: Fertility. Mol Hum Reprod 2010 (in press).
-
(2010)
Mol Hum Reprod
-
-
Zitzmann, M.1
Kliesch, S.2
-
120
-
-
0037384830
-
The CAG repeat polymorphism within the androgen receptor gene and maleness
-
Zitzmann M, Nieschlag E. The CAG repeat polymorphism within the androgen receptor gene and maleness. Int J Androl 2003;26:76-83.
-
(2003)
Int J Androl
, vol.26
, pp. 76-83
-
-
Zitzmann, M.1
Nieschlag, E.2
-
121
-
-
10344248169
-
X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients
-
Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E. X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Clin Endocrinol Metab 2004;89:6208-6217.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 6208-6217
-
-
Zitzmann, M.1
Depenbusch, M.2
Gromoll, J.3
Nieschlag, E.4
|