-
1
-
-
0034457577
-
The effect of a null mutation in the follicle-stimulating hormone receptor gene on mouse reproduction
-
DOI 10.1210/en.141.5.1795
-
Abel MH, Wootton AN, Wilkins V, Huhtaniemi I, Knight PG, Charlton HM: The effect of a null mutation in the follicle-stimulating hormone receptor gene on mouse reproduction. Endocrinology 141: 1795-1803 (2000). (Pubitemid 32274410)
-
(2000)
Endocrinology
, vol.141
, Issue.5
, pp. 1795-1803
-
-
Abel, M.H.1
Wootton, A.N.2
Wilkins, V.3
Huhtaniemi, I.4
Knight, P.G.5
Charlton, H.M.6
-
2
-
-
0032990419
-
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans [1]
-
DOI 10.1038/9629
-
Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL: A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22: 125-126 (1999). (Pubitemid 29264799)
-
(1999)
Nature Genetics
, vol.22
, Issue.2
, pp. 125-126
-
-
Achermann, J.C.1
Ito, M.2
Ito, M.3
Hindmarsh, P.C.4
Jameson, J.L.5
-
3
-
-
0036277895
-
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner
-
DOI 10.1210/jc.87.4.1829
-
Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, et al: Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab 87: 1829-1833 (2002). (Pubitemid 34615276)
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, Issue.4
, pp. 1829-1833
-
-
Achermann, J.C.1
Ozisik, G.2
Ito, M.3
Orun, U.A.4
Harmanci, K.5
Gurakan, B.6
Larry Jameson, J.7
-
4
-
-
0029118115
-
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
-
Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, et al: Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82: 959-968 (1995).
-
(1995)
Cell
, vol.82
, pp. 959-968
-
-
Aittomäki, K.1
Lucena, J.L.2
Pakarinen, P.3
Sistonen, P.4
Tapanainen, J.5
-
5
-
-
0033516530
-
True hermaphroditism with partial duplication of chromosome 22 and without SRY
-
DOI 10.1002/(SICI)1096-8628(19990702)85:1<2::AID-AJMG2>3.0.CO;2-G
-
Aleck KA, Argueso L, Stone J, Hackel JG, Erickson RP: True hermaphroditism with partial duplication of chromosome 22 and without SRY Am J Med Genet 85: 2-4 (1999). (Pubitemid 29256797)
-
(1999)
American Journal of Medical Genetics
, vol.85
, Issue.1
, pp. 2-4
-
-
Aleck, K.A.1
Argueso, L.2
Stone, J.3
Hackel, J.G.4
Erickson, R.P.5
-
6
-
-
80054789767
-
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46,XY disorders of sex development (DSD) including hypospadias
-
Allali S, Muller JB, Brauner R, Lourenço D, Boudjenah R, et al: Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46,XY disorders of sex development (DSD) including hypospadias. PLoS One 6:e24117 (2011).
-
(2011)
PLoS One
, vol.6
-
-
Allali, S.1
Muller, J.B.2
Brauner, R.3
Lourenço, D.4
Boudjenah, R.5
-
7
-
-
3242714742
-
Impaired Leydig cell function in infertile men: A study of 357 idiopathic infertile men and 318 proven fertile controls
-
DOI 10.1210/jc.2003-031786
-
Andersson AM, Jørgensen N, Frydelund-Larsen L, Rajpert-De Meyts E, Skakkebaek NE: Impaired Leydig cell function in infertile men: A study of 357 idiopathic infertile men and 318 proven fertile controls. J Clin Endocrinol Metab 89: 3161-3167 (2004). (Pubitemid 38951879)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.7
, pp. 3161-3167
-
-
Andersson, A.-M.1
Jorgensen, N.2
Frydelund-Larsen, L.3
Rajpert-De Meyts, E.4
Skakkebaek, N.E.5
-
8
-
-
79955034448
-
Transcriptional regulation of bone formation
-
Baek WY, Kim JE: Transcriptional regulation of bone formation. Front Biosci (Schol Ed) 3: 126-135 (2011).
-
(2011)
Front Biosci (Schol Ed)
, vol.3
, pp. 126-135
-
-
Baek, W.Y.1
Kim, J.E.2
-
9
-
-
38349098647
-
Loss of Fgfr2 leads to partial XY sex reversal
-
Bagheri-Fam S, Sim H, Bernard P, Jayakody I, Taketo MM, et al: Loss of Fgfr2 leads to partial XY sex reversal. Dev Biol 314: 71-83 (2008).
-
(2008)
Dev Biol
, vol.314
, pp. 71-83
-
-
Bagheri-Fam, S.1
Sim, H.2
Bernard, P.3
Jayakody, I.4
Taketo, M.M.5
-
10
-
-
79956035605
-
Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome
-
Bagheri-Fam S, Argentaro A, Svingen T, Combes AN, Sinclair AH, et al: Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome. Hum Mol Genet 20: 2213-2224 (2011).
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2213-2224
-
-
Bagheri-Fam, S.1
Argentaro, A.2
Svingen, T.3
Combes, A.N.4
Sinclair, A.H.5
-
11
-
-
34547728253
-
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene
-
DOI 10.1210/jc.2007-0505
-
Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A: Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 92: 3305-3313 (2007). (Pubitemid 47236406)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.8
, pp. 3305-3313
-
-
Barbaro, M.1
Oscarson, M.2
Schoumans, J.3
Staaf, J.4
Ivarsson, S.A.5
Wedell, A.6
-
12
-
-
16944365351
-
Donor splice-site mutations in WT1 are responsible for Frasier syndrome
-
Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, et al: Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17: 467-470 (1997). (Pubitemid 27518399)
-
(1997)
Nature Genetics
, vol.17
, Issue.4
, pp. 467-470
-
-
Barbaux, S.1
Niaudet, P.2
Gubler, M.-C.3
Grunfeld, J.-P.4
Jaubert, F.5
Kuttenn, F.6
Fekete, C.N.7
Souleyreau-Therville, N.8
Thibaud, E.9
Fellous, M.10
McElreavey, K.11
-
13
-
-
64049103389
-
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism
-
Barsoum IB, Bingham NC, Parker KL, Jorgensen JS, Yao HH: Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. Dev Biol 329: 96-103 (2009).
-
(2009)
Dev Biol
, vol.329
, pp. 96-103
-
-
Barsoum, I.B.1
Bingham, N.C.2
Parker, K.L.3
Jorgensen, J.S.4
Yao, H.H.5
-
14
-
-
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 87: 505-512 (2010a).
-
(2010)
Am J Hum Genet
, vol.87
, pp. 505-512
-
-
Bashamboo, A.1
Ferraz-de-Souza, B.2
Lourenço, D.3
Lin, L.4
Sebire, N.J.5
-
15
-
-
84882321464
-
New technologies for the identification of novel genetic markers of disorders of sex development (DSD)
-
Bashamboo A, Ledig S, Wieacker P, Achermann JC, McElreavey K: New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Sex Dev 4: 213-224 (2010b).
-
(2010)
Sex Dev
, vol.4
, pp. 213-224
-
-
Bashamboo, A.1
Ledig, S.2
Wieacker, P.3
Achermann, J.C.4
McElreavey, K.5
-
16
-
-
61349104285
-
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
-
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, et al: Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 41: 359-364 (2009).
-
(2009)
Nat Genet
, vol.41
, pp. 359-364
-
-
Benko, S.1
Fantes, J.A.2
Amiel, J.3
Kleinjan, D.J.4
Thomas, S.5
-
17
-
-
84856009018
-
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
-
Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, et al: Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet 48: 825-830 (2011).
-
(2011)
J Med Genet
, vol.48
, pp. 825-830
-
-
Benko, S.1
Gordon, C.T.2
Mallet, D.3
Sreenivasan, R.4
Thauvin-Robinet, C.5
-
18
-
-
76749130545
-
Acquisition of SOX transcription factor specificity through proteinprotein interaction, modulation of Wnt signalling and post-translational modification
-
Bernard P, Harley VR: Acquisition of SOX transcription factor specificity through proteinprotein interaction, modulation of Wnt signalling and post-translational modification. Int J Biochem Cell Biol 42: 400-410 (2010).
-
(2010)
Int J Biochem Cell Biol
, vol.42
, pp. 400-410
-
-
Bernard, P.1
Harley, V.R.2
-
19
-
-
80053994579
-
ATRX in chromatin assembly and genome architecture during development and disease
-
Bérubé NG: ATRX in chromatin assembly and genome architecture during development and disease. Biochem Cell Biol 89: 435-444 (2011).
-
(2011)
Biochem Cell Biol
, vol.89
, pp. 435-444
-
-
Bérubé, N.G.1
-
21
-
-
0033623571
-
Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency
-
Biason-Lauber A, Schoenle EJ: Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. Am J Hum Genet 67: 1563-1568 (2000).
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1563-1568
-
-
Biason-Lauber, A.1
Schoenle, E.J.2
-
22
-
-
4143139955
-
A WNT4 mutation associated with Müllerian-Duct regression and virilization in a 46,XX woman
-
DOI 10.1056/NEJMoa040533
-
Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ: A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. N Engl J Med 351: 792-798 (2004). (Pubitemid 39095314)
-
(2004)
New England Journal of Medicine
, vol.351
, Issue.8
, pp. 792-798
-
-
Biason-Lauber, A.1
Konrad, D.2
Navratil, F.3
Schoenle, E.J.4
-
23
-
-
33845599605
-
WNT4 deficiency-a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: A case report
-
DOI 10.1093/humrep/del360
-
Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ: WNT4 deficiency Y a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: A case report. Hum Reprod 22: 224-229 (2007). (Pubitemid 44942690)
-
(2007)
Human Reproduction
, vol.22
, Issue.1
, pp. 224-229
-
-
Biason-Lauber, A.1
De Filippo, G.2
Konrad, D.3
Scarano, G.4
Nazzaro, A.5
Schoenle, E.J.6
-
24
-
-
65149088653
-
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene
-
Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ: Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet 84: 658-663 (2009).
-
(2009)
Am J Hum Genet
, vol.84
, pp. 658-663
-
-
Biason-Lauber, A.1
Konrad, D.2
Meyer, M.3
DeBeaufort, C.4
Schoenle, E.J.5
-
25
-
-
70349781856
-
Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination
-
Bogani D, Siggers P, Brixey R, Warr N, Beddow S, et al: Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination. PLoS Biol 7:e1000196 (2009).
-
(2009)
PLoS Biol
, vol.7
-
-
Bogani, D.1
Siggers, P.2
Brixey, R.3
Warr, N.4
Beddow, S.5
-
26
-
-
64149128250
-
The effect of human GATA4 gene mutations on the activity of target gonadal promoters
-
Bouchard MF, Taniguchi H, Viger RS: The effect of human GATA4 gene mutations on the activity of target gonadal promoters. J Mol Endocrinol 42: 149-160 (2009).
-
(2009)
J Mol Endocrinol
, vol.42
, pp. 149-160
-
-
Bouchard, M.F.1
Taniguchi, H.2
Viger, R.S.3
-
27
-
-
80053023062
-
Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort
-
Bouilly J, Bachelot A, Broutin I, Touraine P, Binart N: Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. Hum Mutat 32: 1108-1113 (2011).
-
(2011)
Hum Mutat
, vol.32
, pp. 1108-1113
-
-
Bouilly, J.1
Bachelot, A.2
Broutin, I.3
Touraine, P.4
Binart, N.5
-
28
-
-
35448952936
-
Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice
-
DOI 10.1073/pnas.0701677104
-
Bouma GJ, Washburn LL, Albrecht KH, Eicher EM: Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice. Proc Natl Acad Sci USA 104: 14994-14999 (2007). (Pubitemid 47619581)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.38
, pp. 14994-14999
-
-
Bouma, G.J.1
Washburn, L.L.2
Albrecht, K.H.3
Eicher, E.M.4
-
29
-
-
69449086706
-
A cell-autonomous role for WT1 in regulating Sry in vivo
-
Bradford ST, Wilhelm D, Bandiera R, Vidal V, Schedl A, Koopman P: A cell-autonomous role for WT1 in regulating Sry in vivo. Hum Mol Genet 18: 3429-3438 (2009).
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3429-3438
-
-
Bradford, S.T.1
Wilhelm, D.2
Bandiera, R.3
Vidal, V.4
Schedl, A.5
Koopman, P.6
-
30
-
-
14644392179
-
Maintenance of gene expression patterns
-
DOI 10.1002/dvdy.20298
-
Brock HW, Fisher CL: Maintenance of gene expression patterns. Dev Dyn 232: 633-655 (2005). (Pubitemid 40315285)
-
(2005)
Developmental Dynamics
, vol.232
, Issue.3
, pp. 633-655
-
-
Brock, H.W.1
Fisher, C.L.2
-
31
-
-
0031917404
-
A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function [1]
-
DOI 10.1086/301684
-
Brown S, Yu C, Lanzano P, Heller D, Thomas L, et al: A de novo mutation (Gln2Stop) at the 5 end of the SRY gene leads to sex reversal with partial ovarian function. Am J Hum Genet 1998 62: 189-192 (1998). (Pubitemid 28093848)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.1
, pp. 189-192
-
-
Brown, S.1
Yu, C.C.2
Lanzano, P.3
Heller, D.4
Thomas, L.5
Warburton, D.6
Kitajewski, J.7
Stadtmauer, L.8
-
32
-
-
0030065606
-
Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
-
DOI 10.1038/ng0196-94
-
Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, et al: Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 12: 94-96 (1996). (Pubitemid 26011327)
-
(1996)
Nature Genetics
, vol.12
, Issue.1
, pp. 94-96
-
-
Brunelli, S.1
Faiella, A.2
Capra, V.3
Nigro, V.4
Simeone, A.5
Cama, A.6
Boncinelli, E.7
-
33
-
-
80054983520
-
Altered position of cell bodies and fibers in the ventromedial region in SF-1 knockout mice
-
Büdefeld T, Tobet SA, Majdic G: Altered position of cell bodies and fibers in the ventromedial region in SF-1 knockout mice. Exp Neurol 232: 176-184 (2011).
-
(2011)
Exp Neurol
, vol.232
, pp. 176-184
-
-
Büdefeld, T.1
Tobet, S.A.2
Majdic, G.3
-
34
-
-
84859631522
-
The transcription factor FOXL2: At the crossroads of ovarian physiology and pathology
-
Caburet S, Georges A, L'hôte D, Todeschini AL, Benayoun BA, Veitia RA: The transcription factor FOXL2: At the crossroads of ovarian physiology and pathology. Mol Cell Endocrinol 356: 55-64 (2012).
-
(2012)
Mol Cell Endocrinol
, vol.356
, pp. 55-64
-
-
Caburet, S.1
Georges, A.2
L'hôte, D.3
Todeschini, A.L.4
Benayoun, B.A.5
Veitia, R.A.6
-
35
-
-
0029840844
-
A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal
-
Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, et al: A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal. Hum Mol Genet 5: 1625-1630 (1996). (Pubitemid 26328880)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.10
, pp. 1625-1630
-
-
Cameron, F.J.1
Hageman, R.M.2
Cooke-Yarborough, C.3
Kwok, C.4
Goodwin, L.L.5
Sillence, D.O.6
Sinclair, A.H.7
-
36
-
-
4544336208
-
Mutations in the Desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis
-
DOI 10.1210/jc.2004-0863
-
Canto P, Söderlund D, Reyes E, Méndez JP: Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. J Clin Endocrinol Metab 89: 4480-4483 (2004). (Pubitemid 39244458)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.9
, pp. 4480-4483
-
-
Canto, P.1
Soderlund, D.2
Reyes, E.3
Mendez, J.P.4
-
37
-
-
12344253867
-
Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins
-
DOI 10.1016/j.semcdb.2004.10.006, PII S1084952104001028, Protein Synthesis in Health and Disease
-
Cantor AB, Orkin SH: Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins. Semin Cell Dev Biol 16: 117-128 (2005). (Pubitemid 40126882)
-
(2005)
Seminars in Cell and Developmental Biology
, vol.16
, Issue.1
, pp. 117-128
-
-
Cantor, A.B.1
Orkin, S.H.2
-
38
-
-
79960990066
-
R-spondins function as ligands of the orphan receptors LGR4 and LGR5 to regulate Wnt/beta-catenin signaling
-
Carmon KS, Gong X, Lin Q, Thomas A, Liu Q: R-spondins function as ligands of the orphan receptors LGR4 and LGR5 to regulate Wnt/beta-catenin signaling. Proc Natl Acad Sci USA 108: 11452-11457 (2011).
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 11452-11457
-
-
Carmon, K.S.1
Gong, X.2
Lin, Q.3
Thomas, A.4
Liu, Q.5
-
39
-
-
55749098807
-
Genetics of ovarian differentiation: Rspo1, a major player
-
Chassot AA, Gregoire EP, Magliano M, Lavery R, Chaboissier MC: Genetics of ovarian differentiation: Rspo1, a major player. Sex Dev 2: 219-227 (2008).
-
(2008)
Sex Dev
, vol.2
, pp. 219-227
-
-
Chassot, A.A.1
Gregoire, E.P.2
Magliano, M.3
Lavery, R.4
Chaboissier, M.C.5
-
40
-
-
0035937405
-
Male-to-female sex reversal in mice lacking fibroblast growth factor 9
-
DOI 10.1016/S0092-8674(01)00284-7
-
Colvin JS, Green RP, Schmahl J, Capel B, Ornitz DM: Male-to- female sex reversal in mice lacking fibroblast growth factor 9. Cell 104: 875-889 (2001). (Pubitemid 32289280)
-
(2001)
Cell
, vol.104
, Issue.6
, pp. 875-889
-
-
Colvin, J.S.1
Green, R.P.2
Schmahl, J.3
Capel, B.4
Ornitz, D.M.5
-
41
-
-
79951727216
-
Genetic aspects of premature ovarian failure: A literature review
-
Cordts EB, Christofolini DM, Dos Santos AA, Bianco B, Barbosa CP: Genetic aspects of premature ovarian failure: A literature review. Arch Gynecol Obstet 283: 635-643 (2011).
-
(2011)
Arch Gynecol Obstet
, vol.283
, pp. 635-643
-
-
Cordts, E.B.1
Christofolini, D.M.2
Dos Santos, A.A.3
Bianco, B.4
Barbosa, C.P.5
-
42
-
-
1942505197
-
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency
-
DOI 10.1210/jc.2003-031240
-
Correa RV, Domenice S, Bingham NC, Billerbeck AE, Rainey WE, et al: A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. J Clin Endocrinol Metab 89: 1767-1772 (2004). (Pubitemid 38507932)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.4
, pp. 1767-1772
-
-
Correa, R.V.1
Domenice, S.2
Bingham, N.C.3
Billerbeck, A.E.C.4
Rainey, W.E.5
Parker, K.L.6
Mendonca, B.B.7
-
43
-
-
78650924037
-
A SOX9 duplication and familial 46,XX developmental testicular disorder
-
Cox JJ, Willatt L, Homfray T, Woods CG: A SOX9 duplication and familial 46,XX developmental testicular disorder. N Engl J Med 364: 91-93 (2011).
-
(2011)
N Engl J Med
, vol.364
, pp. 91-93
-
-
Cox, J.J.1
Willatt, L.2
Homfray, T.3
Woods, C.G.4
-
44
-
-
0035312839
-
Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors
-
DOI 10.1101/gad.875201
-
Crispino JD, Lodish MB, Thurberg BL, Litovsky SH, Collins T, et al: Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors. Genes Dev 15: 839-844 (2001). (Pubitemid 32295065)
-
(2001)
Genes and Development
, vol.15
, Issue.7
, pp. 839-844
-
-
Crispino, J.D.1
Lodish, M.B.2
Thurberg, B.L.3
Litovsky, S.H.4
Collins, T.5
Molkentin, J.D.6
Orkin, S.H.7
-
45
-
-
0035131812
-
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
-
DOI 10.1038/84781
-
Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, et al: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/ epicanthus inversus syndrome. Nat Genet 27: 159-166 (2001). (Pubitemid 32157442)
-
(2001)
Nature Genetics
, vol.27
, Issue.2
, pp. 159-166
-
-
Crisponi, L.1
Deiana, M.2
Loi, A.3
Chiappe, F.4
Uda, M.5
Amati, P.6
Bisceglia, L.7
Zelante, L.8
Nagaraja, R.9
Porcu, S.10
Serafina Ristaldi, M.11
Marzella, R.12
Rocchi, M.13
Nicolino, M.14
Lienhardt-Roussie, A.15
Nivelon, A.16
Verloes, A.17
Schlessinger, D.18
Gasparini, P.19
Bonneau, D.20
Cao, A.21
Pilia, G.22
more..
-
46
-
-
80052297562
-
Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods
-
Das DK, Sanghavi D, Gawde H, Idicula-Thomas S, Vasudevan L: Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods. Eur J Med Genet 54:e529-534 (2011).
-
(2011)
Eur J Med Genet
, vol.54
-
-
Das, D.K.1
Sanghavi, D.2
Gawde, H.3
Idicula-Thomas, S.4
Vasudevan, L.5
-
47
-
-
0028786336
-
Transcriptional regulation by MAP kinases
-
Davis RJ: Transcriptional regulation by MAP kinases. Mol Reprod Dev 42: 459-467 (1995).
-
(1995)
Mol Reprod Dev
, vol.42
, pp. 459-467
-
-
Davis, R.J.1
-
48
-
-
18344417900
-
FOXL2 mutation screening in a large panel of POF patients and XX males
-
De Baere E, Lemercier B, Christin-Maitre S, Durval D, Messiaen L, et al: FOXL2 mutation screening in a large panel of POF patients and XX males. J Med Genet 39:e43 (2002).
-
(2002)
J Med Genet
, vol.39
-
-
De Baere, E.1
Lemercier, B.2
Christin-Maitre, S.3
Durval, D.4
Messiaen, L.5
-
49
-
-
80053456512
-
Smith-Lemli-Opitz syndrome
-
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD: Smith-Lemli-Opitz syndrome. Expert Rev Mol Med 13:e24 (2011).
-
(2011)
Expert Rev Mol Med
, vol.13
-
-
DeBarber, A.E.1
Eroglu, Y.2
Merkens, L.S.3
Pappu, A.S.4
Steiner, R.D.5
-
50
-
-
80051926611
-
Lgr5 homologues associate with Wnt receptors and mediate R-spondin signalling
-
de Lau W, Barker N, Low TY, Koo BK, Li VS, et al: Lgr5 homologues associate with Wnt receptors and mediate R-spondin signalling. Nature 476: 293-297 (2011).
-
(2011)
Nature
, vol.476
, pp. 293-297
-
-
De Lau, W.1
Barker, N.2
Low, T.Y.3
Koo, B.K.4
Li, V.S.5
-
51
-
-
0032844181
-
Frasier syndrome: A cause of focal segmental glomerulosclerosis in a 46,XX female
-
Demmer L, Primack W, Loik V, Brown R, Therville N, McElreavey K: Frasier syndrome: A cause of focal segmental glomerulosclerosis in a 46,XX female. J Am Soc Nephrol 10: 2215-2218 (1999). (Pubitemid 29453500)
-
(1999)
Journal of the American Society of Nephrology
, vol.10
, Issue.10
, pp. 2215-2218
-
-
Demmer, L.1
Primack, W.2
Loik, V.3
Brown, R.4
Therville, N.5
Mcelreavey, K.6
-
52
-
-
0031796252
-
Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Mullerian hormone gene
-
De Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, et al: Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. Mol Cell Biol 18: 6653-6665 (1998). (Pubitemid 28500554)
-
(1998)
Molecular and Cellular Biology
, vol.18
, Issue.11
, pp. 6653-6665
-
-
De Santa Barbara, P.1
Bonneaud, N.2
Boizet, B.3
Desclozeaux, M.4
Moniot, B.5
Sudbeck, P.6
Scherer, G.7
Poulat, F.8
Berta, P.9
-
53
-
-
3042601976
-
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene
-
DOI 10.1086/422103
-
Di Pasquale E, Beck-Peccoz P, Persani L: Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 75: 106-111 (2004). (Pubitemid 38801906)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.1
, pp. 106-111
-
-
Di Pasquale, E.1
Beck-Peccoz, P.2
Persani, L.3
-
54
-
-
0014775569
-
A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease
-
Drash A, Sherman F, Hartmann WH, Blizzard RM: A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J Pediatr 76: 585-593 (1970).
-
(1970)
J Pediatr
, vol.76
, pp. 585-593
-
-
Drash, A.1
Sherman, F.2
Hartmann, W.H.3
Blizzard, R.M.4
-
55
-
-
0031786855
-
The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes
-
Dube JL, Wang P, Elvin J, Lyons KM, Celeste AJ, Matzuk MM: The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes. Mol Endocrinol 12: 1809-1817 (1998). (Pubitemid 28544177)
-
(1998)
Molecular Endocrinology
, vol.12
, Issue.12
, pp. 1809-1817
-
-
Dube, J.L.1
Wang, P.2
Elvin, J.3
Lyons, K.M.4
Celeste, A.J.5
Matzuk, M.M.6
-
56
-
-
38149101626
-
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development
-
Dumic M, Lin-Su K, Leibel NI, Ciglar S, Vinci G, et al: Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. J Clin Endocrinol Metab 93: 182-189 (2008).
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 182-189
-
-
Dumic, M.1
Lin-Su, K.2
Leibel, N.I.3
Ciglar, S.4
Vinci, G.5
-
57
-
-
33646829820
-
Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex
-
DOI 10.1074/jbc.M506506200
-
Enomoto R, Kinebuchi T, Sato M, Yagi H, Kurumizaka H, Yokoyama S: Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex. J Biol Chem 281: 5575-5581 (2006). (Pubitemid 43847654)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.9
, pp. 5575-5581
-
-
Enomoto, R.1
Kinebuchi, T.2
Sato, M.3
Yagi, H.4
Kurumizaka, H.5
Yokoyama, S.6
-
58
-
-
33847294697
-
Disruption of Friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis
-
DOI 10.1111/j.1399-0004.2007.00752.x
-
Finelli P, Pincelli AI, Russo S, Bonati MT, Recalcati MP, et al: Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8; 10) chromosomal translocation is associated with heart defects and gonadal dysgenesis. Clin Genet 71: 195-204 (2007). (Pubitemid 46322657)
-
(2007)
Clinical Genetics
, vol.71
, Issue.3
, pp. 195-204
-
-
Finelli, P.1
Pincelli, A.I.2
Russo, S.3
Bonati, M.T.4
Recalcati, M.P.5
Masciadri, M.6
Giardino, D.7
Cavagnini, F.8
Larizza, L.9
-
59
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
DOI 10.1038/372525a0
-
Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, et al: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY -related gene. Nature 372: 525-530 (1994). (Pubitemid 24368528)
-
(1994)
Nature
, vol.372
, Issue.6506
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
Kwok, C.4
Weller, P.A.5
Stevanovic, M.6
Weissenbach, J.7
Mansour, S.8
Young, I.D.9
Goodfellow, P.N.10
Brook, J.D.11
Schafer, A.J.12
-
60
-
-
0033917569
-
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner
-
DOI 10.1038/77033
-
Galloway SM, McNatty KP, Cambridge LM, Laitinen MP, Juengel JL, et al: Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nat Genet 25: 279-283 (2000). (Pubitemid 30437312)
-
(2000)
Nature Genetics
, vol.25
, Issue.3
, pp. 279-283
-
-
Galloway, S.M.1
McNatty, K.P.2
Cambridge, L.M.3
Laitinen, M.P.E.4
Juengel, J.L.5
Jokiranta, T.S.6
McLaren, R.J.7
Luiro, K.8
Dodds, K.G.9
Montgomery, G.W.10
Beattie, A.E.11
Davis, G.H.12
Ritvos, O.13
-
61
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
DOI 10.1038/nature01827
-
Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, et al: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424: 443-447 (2003). (Pubitemid 36917494)
-
(2003)
Nature
, vol.424
, Issue.6947
, pp. 443-447
-
-
Garg, V.1
Kathiriya, I.S.2
Barnes, R.3
Schluterman, M.K.4
King, I.N.5
Butler, C.A.6
Rothrock, C.R.7
Eapen, R.S.8
Hirayama-Yamada, K.9
Joo, K.10
Matsuoka, R.11
Cohen, J.C.12
Srivastava, D.13
-
62
-
-
78049340340
-
Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis
-
Georg I, Bagheri-Fam S, Knower KC, Wieacker P, Scherer G, Harley VR: Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis. Sex Dev 4: 321-325 (2010).
-
(2010)
Sex Dev
, vol.4
, pp. 321-325
-
-
Georg, I.1
Bagheri-Fam, S.2
Knower, K.C.3
Wieacker, P.4
Scherer, G.5
Harley, V.R.6
-
63
-
-
0025098654
-
Homozygous deletions in Wilms' tumours of a zinc-finger gene identified by chromosome jumping
-
Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA: Homozygous deletions in Wilms' tumours of a zinc-finger gene identified by chromosome jumping. Nature 343: 774-778 (1990).
-
(1990)
Nature
, vol.343
, pp. 774-778
-
-
Gessler, M.1
Poustka, A.2
Cavenee, W.3
Neve, R.L.4
Orkin, S.H.5
Bruns, G.A.6
-
64
-
-
0142168950
-
WT1 and DAX-1 regulate SF-1-mediated human P450arom gene expression in gonadal cells
-
DOI 10.1016/S0303-7207(03)00198-9
-
Gurates B, Amsterdam A, Tamura M, Yang S, Zhou J, et al: WT1 and DAX-1 regulate SF-1-mediated human P450arom gene expression in gonadal cells. Mol Cell Endocrinol 208: 61-75 (2003). (Pubitemid 37315839)
-
(2003)
Molecular and Cellular Endocrinology
, vol.208
, Issue.1-2
, pp. 61-75
-
-
Gurates, B.1
Amsterdam, A.2
Tamura, M.3
Yang, S.4
Zhou, J.5
Fang, Z.6
Amin, S.7
Sebastian, S.8
Bulun, S.E.9
-
65
-
-
0033120086
-
Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: Integration of hormone signaling in reproduction and stress
-
DOI 10.1016/S1097-2765(00)80480-3
-
Hammer GD, Krylova I, Zhang Y, Darimont BD, Simpson K, et al: Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: Integration of hormone signaling in reproduction and stress. Mol Cell 3: 521-526 (1999). (Pubitemid 29292609)
-
(1999)
Molecular Cell
, vol.3
, Issue.4
, pp. 521-526
-
-
Hammer, G.D.1
Krylova, I.2
Zhang, Y.3
Darimont, B.D.4
Simpson, K.5
Weigel, N.L.6
Ingraham, H.A.7
-
66
-
-
79960350461
-
A single nucleotide polymorphism in BMP15 is associated with high response to ovarian stimulation
-
Hanevik HI, Hilmarsen HT, Skjelbred CF, Tanbo T, Kahn JA: A single nucleotide polymorphism in BMP15 is associated with high response to ovarian stimulation. Reprod Biomed Online 23: 97-104 (2011).
-
(2011)
Reprod Biomed Online
, vol.23
, pp. 97-104
-
-
Hanevik, H.I.1
Hilmarsen, H.T.2
Skjelbred, C.F.3
Tanbo, T.4
Kahn, J.A.5
-
67
-
-
0033994199
-
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development
-
DOI 10.1016/S0925-4773(99)00307-X, PII S0925477399003020
-
Hanley NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, et al: SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mech Dev 2000 91: 403-407 (2000). (Pubitemid 30125948)
-
(2000)
Mechanisms of Development
, vol.91
, Issue.1-2
, pp. 403-407
-
-
Hanley, N.A.1
Hagan, D.M.2
Clement-Jones, M.3
Ball, S.G.4
Strachan, T.5
Salas-Cortes, L.6
McElreavey, K.7
Lindsay, S.8
Robson, S.9
Bullen, P.10
Ostrer, H.11
Wilson, D.I.12
-
68
-
-
61349091627
-
FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion
-
Harada M, Murakami H, Okawa A, Okimoto N, Hiraoka S, et al: FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion. Nat Genet 41: 289-298 (2009).
-
(2009)
Nat Genet
, vol.41
, pp. 289-298
-
-
Harada, M.1
Murakami, H.2
Okawa, A.3
Okimoto, N.4
Hiraoka, S.5
-
69
-
-
79952835078
-
Dmrt1 genes at the crossroads: A widespread and central class of sexual development factors in fish
-
Herpin A, Schartl M: Dmrt1 genes at the crossroads: A widespread and central class of sexual development factors in fish. FEBS J 278: 1010-1019 (2011).
-
(2011)
FEBS J
, vol.278
, pp. 1010-1019
-
-
Herpin, A.1
Schartl, M.2
-
70
-
-
78449232308
-
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier
-
Hinzpeter A, Aissat A, Sondo E, Costa C, Arous N, et al: Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier. PLoS Genet 6:e1001153 (2010).
-
(2010)
PLoS Genet
, vol.6
-
-
Hinzpeter, A.1
Aissat, A.2
Sondo, E.3
Costa, C.4
Arous, N.5
-
71
-
-
0027537016
-
Ad4BP regulating steroidogenic P-450 gene is a member of steroid hormone receptor superfamily
-
Honda S, Morohashi K, Nomura M, Takeya H, Kitajima M, Omura T: Ad4BP regulating steroidogenic P-450 gene is a member of steroid hormone receptor superfamily. J Biol Chem 268: 7494-7502 (1993). (Pubitemid 23105648)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.10
, pp. 7494-7502
-
-
Honda, S.-I.1
Morohashi, K.-I.2
Nomura, M.3
Takeya, H.4
Kitajima, M.5
Omura, T.6
-
72
-
-
0032725866
-
Autosomal XX sex reversal caused by duplication of SOX9
-
Huang B, Wang S, Ning Y, Lamb AN, Bartley J: Autosomal XX sex reversal caused by duplication of SOX9 Am J Med Genet 87: 349-353 (1999).
-
(1999)
Am J Med Genet
, vol.87
, pp. 349-353
-
-
Huang, B.1
Wang, S.2
Ning, Y.3
Lamb, A.N.4
Bartley, J.5
-
73
-
-
33745773870
-
Consensus statement on management of intersex disorders
-
DOI 10.1136/adc.2006.098319
-
Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group: Consensus statement on management of intersex disorders. Arch Dis Child 91: 554-563 (2006). (Pubitemid 44023350)
-
(2006)
Archives of Disease in Childhood
, vol.91
, Issue.7
, pp. 554-563
-
-
Hughes, I.A.1
Houk, C.2
Ahmed, S.F.3
Lee, P.A.4
-
74
-
-
79958282447
-
ATRX has a critical and conserved role in mammalian sexual differentiation
-
Huyhn K, Renfree MB, Graves JA, Pask AJ: ATRX has a critical and conserved role in mammalian sexual differentiation. BMC Dev Biol 11: 39 (2011).
-
(2011)
BMC Dev Biol
, vol.11
, pp. 39
-
-
Huyhn, K.1
Renfree, M.B.2
Graves, J.A.3
Pask, A.J.4
-
75
-
-
0034595382
-
Molecular cloning and characterization of a human homologue of TBPIP, a BRCA1 locus-related gene
-
DOI 10.1016/S0378-1119(00)00141-4, PII S0378111900001414
-
Ijichi H, Tanaka T, Nakamura T, Yagi H, Hakuba A, Sato M: Molecular cloning and characterization of a human homologue of TBPIP, a BRCA1 locus-related gene. Gene 248: 99-107 (2000). (Pubitemid 30259205)
-
(2000)
Gene
, vol.248
, Issue.1-2
, pp. 99-107
-
-
Ijichi, H.1
Tanaka, T.2
Nakamura, T.3
Yagi, H.4
Hakuba, A.5
Sato, M.6
-
76
-
-
79956308325
-
Mechanisms and functions of Hedgehog signalling across the metazoa
-
Ingham PW, Nakano Y, Seger C: Mechanisms and functions of Hedgehog signalling across the metazoa. Nat Rev Genet 12: 393-406 (2011).
-
(2011)
Nat Rev Genet
, vol.12
, pp. 393-406
-
-
Ingham, P.W.1
Nakano, Y.2
Seger, C.3
-
77
-
-
0027971944
-
The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis
-
Ingraham HA, Lala DS, Ikeda Y, Luo X, Shen WH, et al: The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis. Genes Dev 8: 2302-2312 (1994). (Pubitemid 24314292)
-
(1994)
Genes and Development
, vol.8
, Issue.19
, pp. 2302-2312
-
-
Ingraham, H.A.1
Lala, D.S.2
Ikeda, Y.3
Luo, X.4
Shen, W.-H.5
Nachtigal, M.W.6
Abbud, R.7
Nilson, J.H.8
Parker, K.L.9
-
78
-
-
0029919960
-
A novel mutation in the putative DNA helicase XH2 is responsible for male- to-female sex reversal associated with an atypical form of the ATR-X syndrome
-
Ion A, Telvi L, Chaussain JL, Galacteros F, Valayer J, et al: A novel mutation in the putative DNA helicase XH2 is responsible for maleto-female sex reversal associated with an atypical form of the ATR-X syndrome. Am J Hum Genet 58: 1185-1191 (1996). (Pubitemid 26153829)
-
(1996)
American Journal of Human Genetics
, vol.58
, Issue.6
, pp. 1185-1191
-
-
Ion, A.1
Telvi, L.2
Chaussain, J.L.3
Galacteros, F.4
Valayer, J.5
Fellous, M.6
McElreavey, K.7
-
79
-
-
4944263717
-
Molecular mechanisms of DAX1 action
-
DOI 10.1016/j.ymgme.2004.07.018, PII S1096719204001799, ASHG 2004 Meeting Toronto
-
Iyer AK, McCabe ER: Molecular mechanisms of DAX1 action. Mol Genet Metab 83: 60-73 (2004). (Pubitemid 39328074)
-
(2004)
Molecular Genetics and Metabolism
, vol.83
, Issue.1-2
, pp. 60-73
-
-
Iyer, A.K.1
McCabe, E.R.B.2
-
80
-
-
0041508536
-
Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad
-
DOI 10.1242/dev.00591
-
Jeays-Ward K, Hoyle C, Brennan J, Dandonneau M, Alldus G, et al: Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad. Development 130: 3663-3670 (2003). (Pubitemid 37039072)
-
(2003)
Development
, vol.130
, Issue.16
, pp. 3663-3670
-
-
Jeays-Ward, K.1
Hoyle, C.2
Brennan, J.3
Dandonneau, M.4
Alldus, G.5
Capel, B.6
Swain, A.7
-
81
-
-
3042755053
-
Cell-specific knockout of steriodogenic factor 1 reveals its essential roles in gonadal function
-
DOI 10.1210/me.2003-0404
-
Jeyasuria P, Ikeda Y, Jamin SP, Zhao L, De Rooij DG, et al: Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function. Mol Endocrinol 18: 1610-1619 (2004). (Pubitemid 38859570)
-
(2004)
Molecular Endocrinology
, vol.18
, Issue.7
, pp. 1610-1619
-
-
Jeyasuria, P.1
Ikeda, Y.2
Jamin, S.P.3
Zhao, L.4
De Rooij, D.G.5
Themmen, A.P.N.6
Behringer, R.R.7
Parker, K.L.8
-
82
-
-
0035002512
-
Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans
-
DOI 10.1086/320125
-
Jordan BK, Mohammed M, Ching ST, Délot E, Chen XN, et al: Up-regulation of WNT4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet 68: 1102-1109 (2001). (Pubitemid 32424409)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.5
, pp. 1102-1109
-
-
Jordan, B.K.1
Mohammed, M.2
Ching, S.T.3
Delot, E.4
Chen, X.-N.5
Dewing, P.6
Swain, A.7
Rao, P.N.8
Elejalde, B.R.9
Vilain, E.10
-
83
-
-
0032543560
-
Male-to-female sex reversal in M33 mutant mice
-
DOI 10.1038/31482
-
Katoh-Fukui Y, Tsuchiya R, Shiroishi T, Nakahara Y, Hashimoto N, et al: Male-to-female sex reversal in M33 mutant mice. Nature 393: 688-692 (1998). (Pubitemid 28289658)
-
(1998)
Nature
, vol.393
, Issue.6686
, pp. 688-692
-
-
Katoh-Fukul, Y.1
Tsuchiya, R.2
Shiroishi, T.3
Nakahara, Y.4
Hashimoto, N.5
Noguchi, K.6
Higashinakagawa, T.7
-
84
-
-
23944494628
-
Mouse Polycomb M33 is required for splenic vascular and adrenal gland formation through regulating Ad4BP/SF1 expression
-
DOI 10.1182/blood-2004-08-3367
-
Katoh-Fukui Y, Owaki A, Toyama Y, Kusaka M, Shinohara Y, et al: Mouse Polycomb M33 is required for splenic vascular and adrenal gland formation through regulating Ad4BP/SF1 expression. Blood 106: 1612-1620 (2005). (Pubitemid 41208573)
-
(2005)
Blood
, vol.106
, Issue.5
, pp. 1612-1620
-
-
Katoh-Fukui, Y.1
Owaki, A.2
Toyama, Y.3
Kusaka, M.4
Shinohara, Y.5
Maekawa, M.6
Toshimori, K.7
Morohashi, K.-I.8
-
85
-
-
79956353941
-
Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients
-
Kaur I, Hussain A, Naik MN, Murthy R, Honavar SG: Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. Br J Ophthalmol 95: 881-886 (2011).
-
(2011)
Br J Ophthalmol
, vol.95
, pp. 881-886
-
-
Kaur, I.1
Hussain, A.2
Naik, M.N.3
Murthy, R.4
Honavar, S.G.5
-
86
-
-
78951494316
-
A missense mutation of the Dhh gene is associated with male pseudohermaphroditic rats showing impaired Leydig cell development
-
Kawai Y, Noguchi J, Akiyama K, Takeno Y, Fujiwara Y, et al: A missense mutation of the Dhh gene is associated with male pseudohermaphroditic rats showing impaired Leydig cell development. Reproduction 141: 217-225 (2011).
-
(2011)
Reproduction
, vol.141
, pp. 217-225
-
-
Kawai, Y.1
Noguchi, J.2
Akiyama, K.3
Takeno, Y.4
Fujiwara, Y.5
-
87
-
-
0026800702
-
The cloning of the human follicle stimulating hormone receptor and its expression in cos-7 cho and y-1 cells
-
Kelton CA, Cheng SV, Nugent NP, Schweickhardt RL, Rosenthal JL, et al: The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells. Mol Cell Endocrinol 89: 141-151 (1992).
-
(1992)
Mol Cell Endocrinol
, vol.89
, pp. 141-151
-
-
Kelton, C.A.1
Cheng, S.V.2
Nugent, N.P.3
Schweickhardt, R.L.4
Rosenthal, J.L.5
-
88
-
-
0033767491
-
Expression of transcription factor GATA-4 during human testicular development and disease
-
Ketola I, Pentikäinen V, Vaskivuo T, Ilvesmäki V, Herva R, et al: Expression of transcription factor GATA-4 during human testicular development and disease. J Clin Endocrinol Metab 85: 3925-3931 (2000).
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 3925-3931
-
-
Ketola, I.1
Pentikäinen, V.2
Vaskivuo, T.3
Ilvesmäki, V.4
Herva, R.5
-
89
-
-
79960617185
-
Steroidogenic factor 1 directs programs regulating diet-induced thermogenesis and leptin action in the ventral medial hypothalamic nucleus
-
Kim KW, Zhao L, Donato J Jr, Kohno D, Xu Y, et al: Steroidogenic factor 1 directs programs regulating diet-induced thermogenesis and leptin action in the ventral medial hypothalamic nucleus. Proc Natl Acad Sci USA 108: 10673-10678 (2011).
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 10673-10678
-
-
Kim, K.W.1
Zhao, L.2
Donato Jr., J.3
Kohno, D.4
Xu, Y.5
-
90
-
-
33746907822
-
Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination
-
Kim Y, Kobayashi A, Sekido R, DiNapoli L, Brennan J, et al: Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination. PLoS Biol 4:e187 (2006).
-
(2006)
PLoS Biol
, vol.4
-
-
Kim, Y.1
Kobayashi, A.2
Sekido, R.3
DiNapoli, L.4
Brennan, J.5
-
91
-
-
36748999377
-
Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination
-
DOI 10.1073/pnas.0702581104
-
Kim Y, Bingham N, Sekido R, Parker KL, Lovell-Badge R, Capel B: Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination. Proc Natl Acad Sci USA 104: 16558-16563 (2007). (Pubitemid 350211057)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.42
, pp. 16558-16563
-
-
Kim, Y.1
Bingham, N.2
Sekido, R.3
Parker, K.L.4
Lovell-Badge, R.5
Capel, B.6
-
92
-
-
0027142992
-
The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: A topological mechanism of sequence specificity
-
DOI 10.1073/pnas.90.24.11990
-
King CY, Weiss MA: The SRY high-mobilitygroup box recognizes DNA by partial intercalation in the minor groove: A topological mechanism of sequence specificity. Proc Natl Acad Sci USA 90: 11990-11994 (1993). (Pubitemid 24008766)
-
(1993)
Proceedings of the National Academy of Sciences of the United States of America
, vol.90
, Issue.24
, pp. 11990-11994
-
-
King, C.-Y.1
Weiss, M.A.2
-
93
-
-
79952607849
-
Failure of SOX9 regulation in 46,XY disorders of sex development with SRY, SOX9 and SF1 mutations
-
Knower KC, Kelly S, Ludbrook LM, Bagheri-Fam S, Sim H, et al: Failure of SOX9 regulation in 46,XY disorders of sex development with SRY, SOX9 and SF1 mutations. PLoS One 6:e17751 (2011).
-
(2011)
PLoS One
, vol.6
-
-
Knower, K.C.1
Kelly, S.2
Ludbrook, L.M.3
Bagheri-Fam, S.4
Sim, H.5
-
94
-
-
0036132913
-
Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors
-
DOI 10.1128/MCB.22.1.357-369.2002
-
Ko L, Cardona GR, Henrion-Caude A, Chin WW: Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors. Mol Cell Biol 22: 357-369 (2002). (Pubitemid 33144281)
-
(2002)
Molecular and Cellular Biology
, vol.22
, Issue.1
, pp. 357-369
-
-
Ko, L.1
Cardona, G.R.2
Henrion-Caude, A.3
Chin, W.W.4
-
95
-
-
68349149348
-
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency
-
Köhler B, Lin L, Mazen I, Cetindag C, Biebermann H, et al: The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. Eur J Endocrinol 161: 237-242 (2009).
-
(2009)
Eur J Endocrinol
, vol.161
, pp. 237-242
-
-
Köhler, B.1
Lin, L.2
Mazen, I.3
Cetindag, C.4
Biebermann, H.5
-
96
-
-
79960082053
-
Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development
-
Köhler B, Biebermann H, Friedsam V, Gellermann J, Maier RF, et al: Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development. J Clin Endocrinol Metab 96:E1131-1136 (2011).
-
(2011)
J Clin Endocrinol Metab
, vol.96
-
-
Köhler, B.1
Biebermann, H.2
Friedsam, V.3
Gellermann, J.4
Maier, R.F.5
-
97
-
-
68149169945
-
Duplications of noncoding elements 5 of SOX9 are associated with brachydactyly-anonychia
-
Kurth I, Klopocki E, Stricker S, van Oosterwijk J, Vanek S, et al: Duplications of noncoding elements 5 of SOX9 are associated with brachydactyly-anonychia. Nat Genet 41: 862-863 (2009).
-
(2009)
Nat Genet
, vol.41
, pp. 862-863
-
-
Kurth, I.1
Klopocki, E.2
Stricker, S.3
Van Oosterwijk, J.4
Vanek, S.5
-
98
-
-
78649822186
-
Abnormal epithelial cell polarity and ectopic epidermal growth factor receptor (EGFR) expression induced in Emx2 KO embryonic gonads
-
Kusaka M, Katoh-Fukui Y, Ogawa H, Miyabayashi K, Baba T, et al: Abnormal epithelial cell polarity and ectopic epidermal growth factor receptor (EGFR) expression induced in Emx2 KO embryonic gonads. Endocrinology 151: 5893-5904 (2010).
-
(2010)
Endocrinology
, vol.151
, pp. 5893-5904
-
-
Kusaka, M.1
Katoh-Fukui, Y.2
Ogawa, H.3
Miyabayashi, K.4
Baba, T.5
-
99
-
-
79955957585
-
Impact of follicle stimulating hormone receptor variants in fertility
-
Lalioti MD: Impact of follicle stimulating hormone receptor variants in fertility. Curr Opin Obstet Gynecol 23: 158-167 (2011).
-
(2011)
Curr Opin Obstet Gynecol
, vol.23
, pp. 158-167
-
-
Lalioti, M.D.1
-
100
-
-
80052731734
-
Epistatic selection between coding and regulatory variation in human evolution and disease
-
Lappalainen T, Montgomery SB, Nica AC, Dermitzakis ET: Epistatic selection between coding and regulatory variation in human evolution and disease. Am J Hum Genet 89: 459-463 (2011).
-
(2011)
Am J Hum Genet
, vol.89
, pp. 459-463
-
-
Lappalainen, T.1
Montgomery, S.B.2
Nica, A.C.3
Dermitzakis, E.T.4
-
101
-
-
0036913192
-
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency
-
DOI 10.1086/344661
-
Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, et al: Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet 71: 1450-1455 (2002). (Pubitemid 36015898)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.6
, pp. 1450-1455
-
-
Laumonnier, F.1
Ronce, N.2
Hamel, B.C.J.3
Thomas, P.4
Lespinasse, J.5
Raynaud, M.6
Paringaux, C.7
Van Bokhoven, H.8
Kalscheuer, V.9
Fryns, J.-P.10
Chelly, J.11
Moraine, C.12
Briault, S.13
-
102
-
-
77958494782
-
ATR-X syndrome protein targets tandem repeats and influences allelespecific expression in a size-dependent manner
-
Law MJ, Lower KM, Voon HP, Hughes JR, Garrick D, et al: ATR-X syndrome protein targets tandem repeats and influences allelespecific expression in a size-dependent manner. Cell 143: 367-378 (2010).
-
(2010)
Cell
, vol.143
, pp. 367-378
-
-
Law, M.J.1
Lower, K.M.2
Voon, H.P.3
Hughes, J.R.4
Garrick, D.5
-
103
-
-
79961242786
-
Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development
-
Lee FY, Faivre EJ, Suzawa M, Lontok E, Ebert D, et al: Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development. Dev Cell 21: 315-327 (2011).
-
(2011)
Dev Cell
, vol.21
, pp. 315-327
-
-
Lee, F.Y.1
Faivre, E.J.2
Suzawa, M.3
Lontok, E.4
Ebert, D.5
-
104
-
-
13544259457
-
The DEAD-box protein DP103 (Ddx20 or Gemin-3) represses orphan nuclear receptor activity via SUMO modification
-
DOI 10.1128/MCB.25.5.1879-1890.2005
-
Lee MB, Lebedeva LA, Suzawa M, Wadekar SA, Desclozeaux M, Ingraham HA: The DEADbox protein DP103 (Ddx20 or Gemin-3) represses orphan nuclear receptor activity via SUMO modification. Mol Cell Biol 25: 1879-1890 (2005). (Pubitemid 40280151)
-
(2005)
Molecular and Cellular Biology
, vol.25
, Issue.5
, pp. 1879-1890
-
-
Lee, M.B.1
Lebedeva, L.A.2
Suzawa, M.3
Wadekar, S.A.4
Desclozeaux, M.5
Ingraham, H.A.6
-
105
-
-
33845528754
-
Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia
-
DOI 10.1111/j.1399-0004.2007.00736.x
-
Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, et al: Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet 71: 67-75 (2007). (Pubitemid 44921623)
-
(2007)
Clinical Genetics
, vol.71
, Issue.1
, pp. 67-75
-
-
Leipoldt, M.1
Erdel, M.2
Bien-Willner, G.A.3
Smyk, M.4
Theurl, M.5
Yatsenko, S.A.6
Lupski, J.R.7
Lane, A.H.8
Shanske, A.L.9
Stankiewicz, P.10
Scherer, G.11
-
106
-
-
55749088979
-
Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development
-
Lin L, Achermann JC: Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex Dev 2: 200-209 (2008).
-
(2008)
Sex Dev
, vol.2
, pp. 200-209
-
-
Lin, L.1
Achermann, J.C.2
-
107
-
-
62749102793
-
Mutations in NR5A1 associated with ovarian insufficiency
-
Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, et al: Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med 360: 1200-1210 (2009).
-
(2009)
N Engl J Med
, vol.360
, pp. 1200-1210
-
-
Lourenço, D.1
Brauner, R.2
Lin, L.3
De Perdigo, A.4
Weryha, G.5
-
108
-
-
79952123599
-
Loss-of-function mutation in GATA4 causes anomalies of human testicular development
-
Lourenço D, Brauner R, Rybczynska M, Nihoul- Fékété C, McElreavey K, Bashamboo A: Loss-of-function mutation in GATA4 causes anomalies of human testicular development. Proc Natl Acad Sci USA 108: 1597-1602 (2011).
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 1597-1602
-
-
Lourenço, D.1
Brauner, R.2
Rybczynska, M.3
Nihoul- Fékété, C.4
McElreavey, K.5
Bashamboo, A.6
-
109
-
-
0028303959
-
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
-
DOI 10.1016/0092-8674(94)90211-9
-
Luo X, Ikeda Y, Parker KL: A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77: 481-490 (1994). (Pubitemid 24153989)
-
(1994)
Cell
, vol.77
, Issue.4
, pp. 481-490
-
-
Luo, X.1
Ikeda, Y.2
Parker, K.L.3
-
110
-
-
38749129178
-
SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4
-
DOI 10.1016/j.ajhg.2007.08.005, PII S0002929707000067
-
Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, et al: SERKAL syndrome: An autosomal-recessive disorder caused by a loss-of-function mutation in WNT4 Am J Hum Genet 82: 39-47 (2008). (Pubitemid 351726078)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.1
, pp. 39-47
-
-
Mandel, H.1
Shemer, R.2
Borochowitz, Z.U.3
Okopnik, M.4
Knopf, C.5
Indelman, M.6
Drugan, A.7
Tiosano, D.8
Gershoni-Baruch, R.9
Choder, M.10
Sprecher, E.11
-
111
-
-
51449107118
-
Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development
-
Mardo V, Squibb EE, Braverman N, Hoover-Fong JE, Migeon C, et al: Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development. Am J Med Genet A 146A:2293-2297 (2008).
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2293-2297
-
-
Mardo, V.1
Squibb, E.E.2
Braverman, N.3
Hoover-Fong, J.E.4
Migeon, C.5
-
112
-
-
79961170806
-
DMRT1 prevents female reprogramming in the postnatal mammalian testis
-
Matson CK, Murphy MW, Sarver AL, Griswold MD, Bardwell VJ, Zarkower D: DMRT1 prevents female reprogramming in the postnatal mammalian testis. Nature 476: 101-104 (2011).
-
(2011)
Nature
, vol.476
, pp. 101-104
-
-
Matson, C.K.1
Murphy, M.W.2
Sarver, A.L.3
Griswold, M.D.4
Bardwell, V.J.5
Zarkower, D.6
-
114
-
-
0034855563
-
X-Y translocations and sex differentiation
-
DOI 10.1055/s-2001-15393
-
McElreavey K, Cortes LS: X-Y translocations and sex differentiation. Semin Reprod Med 19: 133-139 (2001). (Pubitemid 32847027)
-
(2001)
Seminars in Reproductive Medicine
, vol.19
, Issue.2
, pp. 133-139
-
-
McElreavey, K.1
Cortes, L.S.2
-
115
-
-
0026442281
-
XY sex reversal associated with a deletion 5 to the sry 'hmg box' in the testis-determining region
-
McElreavy K, Vilain E, Abbas N, Costa JM, Souleyreau N, et al: XY sex reversal associated with a deletion 5 to the SRY 'HMG box' in the testis-determining region. Proc Natl Acad Sci USA 89: 11016-11020 (1992).
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11016-11020
-
-
McElreavy, K.1
Vilain, E.2
Abbas, N.3
Costa, J.M.4
Souleyreau, N.5
-
116
-
-
0029743045
-
Loss of sequences 3 to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination
-
McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, et al: Loss of sequences 3 to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. Proc Natl Acad Sci USA 93: 8590-8594 (1996).
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 8590-8594
-
-
McElreavey, K.1
Vilain, E.2
Barbaux, S.3
Fuqua, J.S.4
Fechner, P.Y.5
-
117
-
-
43049108399
-
No major role for the EMX2 gene in schizencephaly
-
DOI 10.1002/ajmg.a.32264
-
Merello E, Swanson E, De Marco P, Akhter M, Striano P, et al: No major role for the EMX2 gene in schizencephaly. Am J Med Genet A 146A:1142-1150 (2008). (Pubitemid 351628600)
-
(2008)
American Journal of Medical Genetics, Part A
, vol.146
, Issue.9
, pp. 1142-1150
-
-
Merello, E.1
Swanson, E.2
De Marco, P.3
Akhter, M.4
Striano, P.5
Rossi, A.6
Cama, A.7
Leventer, R.J.8
Guerrini, R.9
Capra, V.10
Dobyns, W.B.11
-
118
-
-
0030997340
-
Defects of urogenital development in mice lacking Emx2
-
Miyamoto N, Yoshida M, Kuratani S, Matsuo I, Aizawa S: Defects of urogenital development in mice lacking Emx2 Development 124: 1653-1664 (1997). (Pubitemid 27248333)
-
(1997)
Development
, vol.124
, Issue.9
, pp. 1653-1664
-
-
Miyamoto, N.1
Yoshida, M.2
Kuratani, S.3
Matsuo, I.4
Aizawa, S.5
-
119
-
-
0030996908
-
Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis
-
Molkentin JD, Lin Q, Duncan SA, Olson EN: Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 11: 1061-1072 (1997). (Pubitemid 27199884)
-
(1997)
Genes and Development
, vol.11
, Issue.8
, pp. 1061-1072
-
-
Molkentin, J.D.1
Lin, Q.2
Duncan, S.A.3
Olson, E.N.4
-
120
-
-
0026640265
-
A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s.
-
Morohashi K, Honda S, Inomata Y, Handa H, Omura T: A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s. J Biol Chem 267: 17913-17919 (1992).
-
(1992)
J Biol Chem
, vol.267
, pp. 17913-17919
-
-
Morohashi, K.1
Honda, S.2
Inomata, Y.3
Handa, H.4
Omura, T.5
-
121
-
-
0033104840
-
Structural and functional abnormalities in the spleen of an mFtz-F1 gene-disrupted mouse
-
Morohashi K, Tsuboi-Asai H, Matsushita S, Suda M, Nakashima M, et al: Structural and functional abnormalities in the spleen of an mFtz-F1 gene-disrupted mouse. Blood 93: 1586-1594 (1999). (Pubitemid 29102486)
-
(1999)
Blood
, vol.93
, Issue.5
, pp. 1586-1594
-
-
Morohashi, K.-i.1
Tsuboi-Asai, H.2
Matsushita, S.3
Suda, M.4
Nakashima, M.5
Sasano, H.6
Hataba, Y.7
Li, C.-H.8
Fukata, J.9
Irie, J.10
Watanabe, T.11
Nagura, H.12
Li, E.13
-
122
-
-
33947196237
-
A novel polyalanine expansion in FOXL2: The first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction
-
DOI 10.1007/s00439-006-0276-0
-
Nallathambi J, Moumné L, De Baere E, Beysen D, Usha K, et al: A novel polyalanine expansion in FOXL2: The first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. Hum Genet 121: 107-112 (2007). (Pubitemid 46421147)
-
(2007)
Human Genetics
, vol.121
, Issue.1
, pp. 107-112
-
-
Nallathambi, J.1
Moumne, L.2
Baere, E.3
Beysen, D.4
Usha, K.5
Sundaresan, P.6
Veitia, R.A.7
-
123
-
-
59749096464
-
Clinical practice. Primary ovarian insufficiency
-
Nelson LM: Clinical practice. Primary ovarian insufficiency. N Engl J Med 360: 606-614 (2009).
-
(2009)
N Engl J Med
, vol.360
, pp. 606-614
-
-
Nelson, L.M.1
-
124
-
-
33748702059
-
WT1 and glomerular diseases
-
DOI 10.1007/s00467-006-0208-1
-
Niaudet P, Gubler MC: WT1 and glomerular diseases. Pediatr Nephrol 21: 1653-1660 (2006). (Pubitemid 44390829)
-
(2006)
Pediatric Nephrology
, vol.21
, Issue.11
, pp. 1653-1660
-
-
Niaudet, P.1
Gubler, M.-C.2
-
125
-
-
0028001264
-
Trisomy 22 and intersex
-
Nicholl RM, Grimsley L, Butler L, Palmer RW, Rees HC, et al: Trisomy 22 and intersex. Arch Dis Child Fetal Neonatal Ed 71:F57-F58 (1994). (Pubitemid 24238552)
-
(1994)
Archives of Disease in Childhood
, vol.71
, Issue.1 SUPPL.
-
-
Nicholl, R.M.1
Grimsley, L.2
Butler, L.3
Palmer, R.W.4
Rees, H.C.5
Savage, M.O.6
Costeloe, K.7
-
126
-
-
0033673024
-
Genetic evidence for a novel gene(s) involved in urogenital development on 10q26
-
Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, et al: Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int 58: 2281-2290 (2000).
-
(2000)
Kidney Int
, vol.58
, pp. 2281-2290
-
-
Ogata, T.1
Muroya, K.2
Sasagawa, I.3
Kosho, T.4
Wakui, K.5
-
127
-
-
0030710606
-
Ontogeny of follicle-stimulating hormone receptor gene expression in isolated human ovarian follicles
-
Oktay K, Briggs D, Gosden RG: Ontogeny of follicle-stimulating hormone receptor gene expression in isolated human ovarian follicles. J Clin Endocrinol Metab 82: 3748-3751 (1997). (Pubitemid 27509366)
-
(1997)
Journal of Clinical Endocrinology and Metabolism
, vol.82
, Issue.11
, pp. 3748-3751
-
-
Oktay, K.1
Briggs, D.2
Gosden, R.G.3
-
128
-
-
0034671540
-
Bone morphogenetic protein-15: Identification of target cells and biological functions
-
DOI 10.1074/jbc.M007428200
-
Otsuka F, Yao Z, Lee T, Yamamoto S, Erickson GF, Shimasaki S: Bone morphogenetic protein-15. Identification of target cells and biological functions. J Biol Chem 275: 39523-39528 (2000). (Pubitemid 32058979)
-
(2000)
Journal of Biological Chemistry
, vol.275
, Issue.50
, pp. 39523-39528
-
-
Otsuka, F.1
Yao, Z.2
Lee, T.-H.3
Yamamoto, S.4
Erickson, G.F.5
Shimasaki, S.6
-
129
-
-
0033808669
-
Deletions of 9p and the quest for a conserved mechanism of sex determination
-
Ottolenghi C, McElreavey K: Deletions of 9p and the quest for a conserved mechanism of sex determination. Mol Genet Metab 71: 397-404 (2000).
-
(2000)
Mol Genet Metab
, vol.71
, pp. 397-404
-
-
Ottolenghi, C.1
McElreavey, K.2
-
130
-
-
26444511733
-
Foxl2 is required for commitment to ovary differentiation
-
DOI 10.1093/hmg/ddi210
-
Ottolenghi C, Omari S, Garcia-Ortiz JE, Uda M, Crisponi L, et al: Foxl2 is required for commitment to ovary differentiation. Hum Mol Genet 14: 2053-2062 (2005). (Pubitemid 41418041)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.14
, pp. 2053-2062
-
-
Ottolenghi, C.1
Omari, S.2
Garcia-Ortiz, J.E.3
Uda, M.4
Crisponi, L.5
Forabosco, A.6
Pilia, G.7
Schlessinger, D.8
-
131
-
-
0035733723
-
A 11.7-kb deletion triggers intersexuality and polledness in goats
-
DOI 10.1038/ng769
-
Pailhoux E, Vigier B, Chaffaux S, Servel N, Taourit S, et al: A 11.7-kb deletion triggers intersexuality and polledness in goats. Nat Genet 29: 453-458 (2001). (Pubitemid 34326697)
-
(2001)
Nature Genetics
, vol.29
, Issue.4
, pp. 453-458
-
-
Pailhoux, E.1
Vigier, B.2
Chaffaux, S.3
Servel, N.4
Taourit, S.5
Furet, J.-P.6
Fellous, M.7
Grosclaude, F.8
Cribiu, E.P.9
Cotinot, C.10
Vaiman, D.11
-
132
-
-
77954839635
-
FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells
-
Park M, Shin E, Won M, Kim JH, Go H, et al: FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells. Mol Endocrinol 24: 1024-1036 (2010).
-
(2010)
Mol Endocrinol
, vol.24
, pp. 1024-1036
-
-
Park, M.1
Shin, E.2
Won, M.3
Kim, J.H.4
Go, H.5
-
133
-
-
34547132553
-
Distinct roles for Steroidogenic factor 1 and Desert hedgehog pathways in fetal and adult leydig cell development
-
DOI 10.1210/en.2006-1731
-
Park SY, Tong M, Jameson JL: Distinct roles for steroidogenic factor 1 and desert hedgehog pathways in fetal and adult Leydig cell development. Endocrinology 148: 3704-3710 (2007). (Pubitemid 47105872)
-
(2007)
Endocrinology
, vol.148
, Issue.8
, pp. 3704-3710
-
-
Park, S.Y.1
Tong, M.2
Jameson, J.L.3
-
134
-
-
33750489078
-
R-spondin1 is essential in sex determination, skin differentiation and malignancy
-
DOI 10.1038/ng1907, PII NG1907
-
Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, et al: R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet 38: 1304-1309 (2006). (Pubitemid 44646293)
-
(2006)
Nature Genetics
, vol.38
, Issue.11
, pp. 1304-1309
-
-
Parma, P.1
Radi, O.2
Vidal, V.3
Chaboissier, M.C.4
Dellambra, E.5
Valentini, S.6
Guerra, L.7
Schedl, A.8
Camerino, G.9
-
135
-
-
79952591117
-
The role of oocyte-secreted factors GDF9 and BMP15 in follicular development and oogenesis
-
Paulini F, Melo EO: The role of oocyte-secreted factors GDF9 and BMP15 in follicular development and oogenesis. Reprod Domest Anim 46: 354-361 (2011).
-
(2011)
Reprod Domest Anim
, vol.46
, pp. 354-361
-
-
Paulini, F.1
Melo, E.O.2
-
136
-
-
78649781937
-
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
-
Pearlman A, Loke J, Le Caignec C, White S, Chin L, et al: Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet 87: 898-904 (2010).
-
(2010)
Am J Hum Genet
, vol.87
, pp. 898-904
-
-
Pearlman, A.1
Loke, J.2
Le Caignec, C.3
White, S.4
Chin, L.5
-
137
-
-
0346783290
-
The Hop2 protein has a direct role in promoting interhomolog interactions during mouse meiosis
-
DOI 10.1016/S1534-5807(03)00369-1, PII S1534580703003691
-
Petukhova GV, Romanienko PJ, Camerini-Otero RD: The Hop2 protein has a direct role in promoting interhomolog interactions during mouse meiosis. Dev Cell 5: 927-936 (2003). (Pubitemid 37527692)
-
(2003)
Developmental Cell
, vol.5
, Issue.6
, pp. 927-936
-
-
Petukhova, G.V.1
Romanienko, P.J.2
Camerini-Otero, R.D.3
-
138
-
-
0033358653
-
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region
-
DOI 10.1086/302455
-
Pfeifer D, Kist R, Dewar K, Devon K, Lander ES, et al: Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: Evidence for an extended control region. Am J Hum Genet 65: 111-124 (1999). (Pubitemid 30470455)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.1
, pp. 111-124
-
-
Pfeifer, D.1
Kist, R.2
Dewar, K.3
Devon, K.4
Lander, E.S.5
Birren, B.6
Korniszewski, L.7
Back, E.8
Scherer, G.9
-
139
-
-
40449102287
-
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: A French collaborative study
-
DOI 10.1093/humrep/dem278
-
Philibert P, Zenaty D, Lin L, Soskin S, Audran F, et al: Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: A French collaborative study. Hum Reprod 22: 3255-3261 (2007). (Pubitemid 351696772)
-
(2007)
Human Reproduction
, vol.22
, Issue.12
, pp. 3255-3261
-
-
Philibert, P.1
Zenaty, D.2
Lin, L.3
Soskin, S.4
Audran, F.5
Leger, J.6
Achermann, J.C.7
Sultan, C.8
-
140
-
-
40849126622
-
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Müllerian duct abnormalities: A French collaborative study
-
DOI 10.1210/jc.2007-2023
-
Philibert P, Biason-Lauber A, Rouzier R, Pienkowski C, Paris F, et al: Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: A French collaborative study. J Clin Endocrinol Metab 93: 895-900 (2008). (Pubitemid 351398569)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.3
, pp. 895-900
-
-
Philibert, P.1
Biason-Lauber, A.2
Rouzier, R.3
Pienkowski, C.4
Paris, F.5
Konrad, D.6
Schoenle, E.7
Sultan, C.8
-
141
-
-
79959720658
-
Molecular analysis of WNT4 gene in four adolescent girls with müllerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)
-
Philibert P, Biason-Lauber A, Gueorguieva I, Stuckens C, Pienkowski C, et al: Molecular analysis of WNT4 gene in four adolescent girls with müllerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome). Fertil Steril 95: 2683-2686 (2011a).
-
(2011)
Fertil Steril
, vol.95
, pp. 2683-2686
-
-
Philibert, P.1
Biason-Lauber, A.2
Gueorguieva, I.3
Stuckens, C.4
Pienkowski, C.5
-
142
-
-
79952987603
-
Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father
-
e5-9
-
Philibert P, Polak M, Colmenares A, Lortat-Jacob S, Audran F, et al: Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father. Fertil Steril 95: 1788.e5-9 (2011b).
-
(2011)
Fertil Steril
, vol.95
, pp. 1788
-
-
Philibert, P.1
Polak, M.2
Colmenares, A.3
Lortat-Jacob, S.4
Audran, F.5
-
143
-
-
80054714796
-
Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: Frustrated induced fit in a bent protein-DNA complex
-
Phillips NB, Racca J, Chen YS, Singh R, Jacso-Radek A, et al: Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: Frustrated induced fit in a bent protein-DNA complex. J Biol Chem 286: 36787-36807 (2011).
-
(2011)
J Biol Chem
, vol.286
, pp. 36787-36807
-
-
Phillips, N.B.1
Racca, J.2
Chen, Y.S.3
Singh, R.4
Jacso-Radek, A.5
-
144
-
-
17344366171
-
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
-
DOI 10.1038/ng0298-171
-
Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, et al: SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18: 171-173 (1998). (Pubitemid 28082467)
-
(1998)
Nature Genetics
, vol.18
, Issue.2
, pp. 171-173
-
-
Pingault, V.1
Bondurand, N.2
Kuhlbrodt, K.3
Goerich, D.E.4
Prehu, M.-O.5
Pulitil, A.6
Herbarth, B.7
Hermans-Borgmeyer, I.8
Legius, E.9
Matthijs, G.10
Amiel, J.11
Lyonnet, S.12
Ceccherini, I.13
Romeo, G.14
Smith, J.C.15
Read, A.P.16
Wegner, M.17
Goossens, M.18
-
145
-
-
0034295096
-
Peripheral neuropathy with hypomyelination chronic intestinal pseudo-obstruction and deafness: A Developmental 'neural crest syndrome related to a SOX10 mutation
-
Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, et al: Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental 'neural crest syndrome' related to a SOX10 mutation. Ann Neurol 48: 671-676 (2000).
-
(2000)
Ann Neurol
, vol.48
, pp. 671-676
-
-
Pingault, V.1
Guiochon-Mantel, A.2
Bondurand, N.3
Faure, C.4
Lacroix, C.5
-
146
-
-
77949876407
-
Sox10 gain-of-function causes XX sex reversal in mice: Implications for human 22q-linked disorders of sex development
-
Polanco JC, Wilhelm D, Davidson TL, Knight D, Koopman P: Sox10 gain-of-function causes XX sex reversal in mice: Implications for human 22q-linked disorders of sex development. Hum Mol Genet 19: 506-516 (2010).
-
(2010)
Hum Mol Genet
, vol.19
, pp. 506-516
-
-
Polanco, J.C.1
Wilhelm, D.2
Davidson, T.L.3
Knight, D.4
Koopman, P.5
-
147
-
-
34548288054
-
NOBOX homeobox mutation causes premature ovarian failure
-
DOI 10.1086/519496
-
Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A: NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet 81: 576-581 (2007). (Pubitemid 47330215)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.3
, pp. 576-581
-
-
Qin, Y.1
Choi, Y.2
Zhao, H.3
Simpson, J.L.4
Chen, Z.-J.5
Rajkovic, A.6
-
148
-
-
63249095263
-
Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure
-
Qin Y, Shi Y, Zhao Y, Carson SA, Simpson JL, Chen ZJ: Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure. Fertil Steril 91 Suppl 4: 1507-1509 (2009).
-
(2009)
Fertil Steril
, vol.91
, Issue.SUPPL. 4
, pp. 1507-1509
-
-
Qin, Y.1
Shi, Y.2
Zhao, Y.3
Carson, S.A.4
Simpson, J.L.5
Chen, Z.J.6
-
149
-
-
33749561820
-
A novel human sex-determining gene linked to Xp11.21-11.23
-
DOI 10.1210/jc.2006-0950
-
Rajender S, Thangaraj K, Gupta NJ, Leelavathy N, Rani DS, et al: A novel human sex-determining gene linked to Xp11.21-11.23. J Clin Endocrinol Metab 91: 4028-4036 (2006). (Pubitemid 44536882)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.10
, pp. 4028-4036
-
-
Rajender, S.1
Thangaraj, K.2
Gupta, N.J.3
Leelavathy, N.4
Rani, D.S.5
Nambiar, R.G.6
Kalavathy, V.7
Santhiya, S.T.8
Rajangam, S.9
Gopinath, P.M.10
Chakravarty, B.11
Singh, L.12
-
150
-
-
4143068997
-
NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression
-
DOI 10.1126/science.1099755
-
Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM: NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science 305: 1157-1159 (2004). (Pubitemid 39100329)
-
(2004)
Science
, vol.305
, Issue.5687
, pp. 1157-1159
-
-
Rajkovic, A.1
Pangas, S.A.2
Ballow, D.3
Suzumori, N.4
Matzuk, M.M.5
-
151
-
-
0032509983
-
Evidence for evolutionary conservation of sex-determining genes
-
DOI 10.1038/35618
-
Raymond CS, Shamu CE, Shen MM, Seifert KJ, Hirsch B, et al: Evidence for evolutionary conservation of sex-determining genes. Nature 391: 691-695 (1998). (Pubitemid 28113214)
-
(1998)
Nature
, vol.391
, Issue.6668
, pp. 691-695
-
-
Raymond, C.S.1
Shamu, C.E.2
Shen, M.M.3
Seifert, K.J.4
Hirsch, B.5
Hodgkin, J.6
Zarkower, D.7
-
152
-
-
0034668046
-
Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation
-
Raymond CS, Murphy MW, O'Sullivan MG, Bardwell VJ, Zarkower D: Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation. Genes Dev 14: 2587-2595 (2000).
-
(2000)
Genes Dev
, vol.14
, pp. 2587-2595
-
-
Raymond, C.S.1
Murphy, M.W.2
O'Sullivan, M.G.3
Bardwell, V.J.4
Zarkower, D.5
-
153
-
-
68149166577
-
Symposium: Update on prediction and management of ohss. genetics of ovarian hyperstimulation syndrome
-
Rizk B: Symposium: Update on prediction and management of OHSS. Genetics of ovarian hyperstimulation syndrome. Reprod Biomed Online 19: 14-27 (2009).
-
(2009)
Reprod Biomed Online
, vol.19
, pp. 14-27
-
-
Rizk, B.1
-
154
-
-
77954832944
-
Minireview: Steroidogenic factor 1: Its roles in differentiation, development, and disease
-
Schimmer BP, White PC: Minireview: Steroidogenic factor 1: Its roles in differentiation, development, and disease. Mol Endocrinol 24: 1322-1337 (2010).
-
(2010)
Mol Endocrinol
, vol.24
, pp. 1322-1337
-
-
Schimmer, B.P.1
White, P.C.2
-
155
-
-
77749246509
-
Determination and stability of gonadal sex
-
Schlessinger D, Garcia-Ortiz JE, Forabosco A, Uda M, Crisponi L, Pelosi E: Determination and stability of gonadal sex. J Androl 31: 16-25 (2010).
-
(2010)
J Androl
, vol.31
, pp. 16-25
-
-
Schlessinger, D.1
Garcia-Ortiz, J.E.2
Forabosco, A.3
Uda, M.4
Crisponi, L.5
Pelosi, E.6
-
156
-
-
2442528519
-
46,XX Sex reversal with partial duplication of chromosome arm 22q
-
Seeherunvong T, Perera EM, Bao Y, Benke PJ, Benigno A, et al: 46,XX sex reversal with partial duplication of chromosome arm 22q. Am J Med Genet A 127A:149-151 (2004). (Pubitemid 38649956)
-
(2004)
American Journal of Medical Genetics
, vol.127 A
, Issue.2
, pp. 149-151
-
-
Seeherunvong, T.1
Perera, E.M.2
Bao, Y.3
Benke, P.J.4
Benigno, A.5
Donahue, R.P.6
Berkovitz, G.D.7
-
157
-
-
45149093155
-
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
-
DOI 10.1038/nature06944, PII NATURE06944
-
Sekido R, Lovell-Badge R: Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 453: 930-934 (2008). (Pubitemid 351832560)
-
(2008)
Nature
, vol.453
, Issue.7197
, pp. 930-934
-
-
Sekido, R.1
Lovell-Badge, R.2
-
158
-
-
58149333236
-
Sex determination and SRY: Down to a wink and a nudge?
-
Sekido R, Lovell-Badge R: Sex determination and SRY: Down to a wink and a nudge? Trends Genet 25: 19-29 (2009).
-
(2009)
Trends Genet
, vol.25
, pp. 19-29
-
-
Sekido, R.1
Lovell-Badge, R.2
-
159
-
-
0028308118
-
Nuclear receptor steroidogenic factor 1 regulates the mü llerian inhibiting substance gene: A link to the sex determination cascade
-
Shen WH, Moore CC, Ikeda Y, Parker KL, Ingraham HA: Nuclear receptor steroidogenic factor 1 regulates the mü llerian inhibiting substance gene: A link to the sex determination cascade. Cell 77: 651-661 (1994).
-
(1994)
Cell
, vol.77
, pp. 651-661
-
-
Shen, W.H.1
Moore, C.C.2
Ikeda, Y.3
Parker, K.L.4
Ingraham, H.A.5
-
160
-
-
70249086529
-
The avian Z-linked gene DMRT1 is required for male sex determination in the chicken
-
Smith CA, Roeszler KN, Ohnesorg T, Cummins DM, Farlie PG, et al: The avian Z-linked gene DMRT1 is required for male sex determination in the chicken. Nature 461: 267-271 (2009).
-
(2009)
Nature
, vol.461
, pp. 267-271
-
-
Smith, C.A.1
Roeszler, K.N.2
Ohnesorg, T.3
Cummins, D.M.4
Farlie, P.G.5
-
161
-
-
34447291845
-
Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1)
-
DOI 10.1007/s00439-007-0373-8
-
Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, et al: Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1) Hum Genet 122: 63-70 (2007). (Pubitemid 47040574)
-
(2007)
Human Genetics
, vol.122
, Issue.1
, pp. 63-70
-
-
Smyk, M.1
Berg, J.S.2
Pursley, A.3
Curtis, F.K.4
Fernandez, B.A.5
Bien-Willner, G.A.6
Lupski, J.R.7
Cheung, S.W.8
Stankiewicz, P.9
-
162
-
-
0030920230
-
Multiple steroidogenic factor 1 binding elements in the human steroidogenic acute regulatory protein gene 5'-flanking region are required for maximal promoter activity and cyclic AMP responsiveness
-
DOI 10.1021/bi9628984
-
Sugawara T, Kiriakidou M, McAllister JM, Kallen CB, Strauss JF 3rd: Multiple steroidogenic factor 1 binding elements in the human steroidogenic acute regulatory protein gene 5 -flanking region are required for maximal promoter activity and cyclic AMP responsiveness. Biochemistry 36: 7249-7255 (1997). (Pubitemid 27258141)
-
(1997)
Biochemistry
, vol.36
, Issue.23
, pp. 7249-7255
-
-
Sugawara, T.1
Kiriakidou, M.2
McAllister, J.M.3
Kallen, C.B.4
Strauss III, J.F.5
-
163
-
-
60749088933
-
Mayer-Rokitansky-Kuster-Hauser syndrome: Recent clinical and genetic findings
-
Sultan C, Biason-Lauber A, Philibert P: Mayer-Rokitansky-Kuster-Hauser syndrome: Recent clinical and genetic findings. Gynecol Endocrinol 25: 8-11 (2009).
-
(2009)
Gynecol Endocrinol
, vol.25
, pp. 8-11
-
-
Sultan, C.1
Biason-Lauber, A.2
Philibert, P.3
-
164
-
-
78650938438
-
Identification of SOX3 as an XX male sex reversal gene in mice and humans
-
Sutton E, Hughes J, White S, Sekido R, Tan J, et al: Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest 121: 328-341 (2011).
-
(2011)
J Clin Invest
, vol.121
, pp. 328-341
-
-
Sutton, E.1
Hughes, J.2
White, S.3
Sekido, R.4
Tan, J.5
-
165
-
-
0029154439
-
Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion
-
Tar A, Sólyom J, Györvári B, Ion A, Telvi L, et al: Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion. Hum Genet 96: 464-468 (1995).
-
(1995)
Hum Genet
, vol.96
, pp. 464-468
-
-
Tar, A.1
Sólyom, J.2
Györvári, B.3
Ion, A.4
Telvi, L.5
-
166
-
-
0036796863
-
Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2
-
Tevosian SG, Albrecht KH, Crispino JD, Fujiwara Y, Eicher EM, Orkin SH: Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2. Development 129: 4627-4634 (2002). (Pubitemid 35203743)
-
(2002)
Development
, vol.129
, Issue.19
, pp. 4627-4634
-
-
Tevosian, S.G.1
Albrecht, K.H.2
Crispino, J.D.3
Fujiwara, Y.4
Eicher, E.M.5
Orkin, S.H.6
-
167
-
-
0034726693
-
Brief clinical report: Acampomelic campomelic dysplasia with SOX9 mutation
-
DOI 10.1002/1096-8628(20000828)93:5<421::AID-AJMG14>3.0.CO;2-5
-
Thong MK, Scherer G, Kozlowski K, Haan E, Morris L: Acampomelic campomelic dysplasia with SOX9 mutation. Am J Med Genet 93: 421-425 (2000). (Pubitemid 30622190)
-
(2000)
American Journal of Medical Genetics
, vol.93
, Issue.5
, pp. 421-425
-
-
Thong, M.-K.1
Scherer, G.2
Kozlowski, K.3
Haan, E.4
Morris, L.5
-
168
-
-
38949110809
-
Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation
-
DOI 10.1002/humu.20665
-
Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, et al: Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. Hum Mutat 29:220-226 (2008). (Pubitemid 351240593)
-
(2008)
Human Mutation
, vol.29
, Issue.2
, pp. 220-226
-
-
Tomaselli, S.1
Megiorni, F.2
De Bernardo, C.3
Felici, A.4
Marrocco, G.5
Maggiulli, G.6
Grammatico, B.7
Remotti, D.8
Saccucci, P.9
Valentini, F.10
Mazzilli, M.C.11
Majore, S.12
Grammatico, P.13
-
169
-
-
42449158088
-
R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling
-
DOI 10.1093/hmg/ddn036
-
Tomizuka K, Horikoshi K, Kitada R, Sugawara Y, Iba Y, et al: R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling. Hum Mol Genet 17: 1278-1291 (2008). (Pubitemid 351566964)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.9
, pp. 1278-1291
-
-
Tomizuka, K.1
Horikoshi, K.2
Kitada, R.3
Sugawara, Y.4
Iba, Y.5
Kojima, A.6
Yoshitome, A.7
Yamawaki, K.8
Amagai, M.9
Inoue, A.10
Oshima, T.11
Kakitani, M.12
-
170
-
-
0033927518
-
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
-
DOI 10.1086/302895
-
Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, et al: Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet 66: 1496-1503 (2000). (Pubitemid 30463068)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.5
, pp. 1496-1503
-
-
Touraine, R.L.1
Attie-Bitach, T.2
Manceau, E.3
Korsch, E.4
Sarda, P.5
Pingault, V.6
Encha-Razavi, F.7
Pelet, A.8
Auge, J.9
Nivelon-Chevallier, A.10
Holschneider, A.M.11
Munnes, M.12
Doerfler, W.13
Goossens, M.14
Munnich, A.15
Vekemans, M.16
Lyonnet, S.17
-
171
-
-
0034824467
-
Modulation of endogenous GATA-4 activity reveals its dual contribution to Müllerian inhibiting substance gene transcription in sertoli cells
-
DOI 10.1210/me.15.9.1636
-
Tremblay JJ, Robert NM, Viger RS: Modulation of endogenous GATA-4 activity reveals its dual contribution to Müllerian inhibiting substance gene transcription in Sertoli cells. Mol Endocrinol 15: 1636-1650 (2001). (Pubitemid 32826415)
-
(2001)
Molecular Endocrinology
, vol.15
, Issue.9
, pp. 1636-1650
-
-
Tremblay, J.J.1
Robert, N.M.2
Viger, R.S.3
-
172
-
-
71149095052
-
Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation
-
Uhlenhaut NH, Jakob S, Anlag K, Eisenberger T, Sekido R, et al: Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation. Cell 139: 1130-1142 (2009).
-
(2009)
Cell
, vol.139
, pp. 1130-1142
-
-
Uhlenhaut, N.H.1
Jakob, S.2
Anlag, K.3
Eisenberger, T.4
Sekido, R.5
-
173
-
-
0033754159
-
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy
-
Umehara F, Tate G, Itoh K, Yamaguchi N, Douchi T, et al: A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Am J Hum Genet 67: 1302-1305 (2000).
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1302-1305
-
-
Umehara, F.1
Tate, G.2
Itoh, K.3
Yamaguchi, N.4
Douchi, T.5
-
174
-
-
0033521967
-
Female development in mammals is regulated by Wnt-4 signalling
-
Vainio S, Heikkilä M, Kispert A, Chin N, McMahon AP: Female development in mammals is regulated by Wnt-4 signalling. Nature 397: 405-409 (1999).
-
(1999)
Nature
, vol.397
, pp. 405-409
-
-
Vainio, S.1
Heikkilä, M.2
Kispert, A.3
Chin, N.4
McMahon, A.P.5
-
175
-
-
80955165995
-
XX males SRY negative: A confirmed cause of infertility
-
Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, et al: XX males SRY negative: A confirmed cause of infertility. J Med Genet 48: 710-712 (2011).
-
(2011)
J Med Genet
, vol.48
, pp. 710-712
-
-
Vetro, A.1
Ciccone, R.2
Giorda, R.3
Patricelli, M.G.4
Della Mina, E.5
-
176
-
-
18444375272
-
Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses [6]
-
Vialard F, Ottolenghi C, Gonzales M, Choiset A, Girard S, et al: Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses. J Med Genet 39: 514-518 (2002). (Pubitemid 34787747)
-
(2002)
Journal of Medical Genetics
, vol.39
, Issue.7
, pp. 514-518
-
-
Vialard, F.1
Ottolenghi, C.2
Gonzales, M.3
Choiset, A.4
Girard, S.5
Siffroi, J.P.6
McElreavey, K.7
Vibert-Guigue, C.8
Sebaoun, M.9
Joye, N.10
Portnoi, M.F.11
Jaubert, F.12
Fellous, M.13
-
177
-
-
41749120577
-
Role of the GATA family of transcription factors in endocrine development, function, and disease
-
DOI 10.1210/me.2007-0513
-
Viger RS, Guittot SM, Anttonen M, Wilson DB, Heikinheimo M: Role of the GATA family of transcription factors in endocrine development, function, and disease. Mol Endocrinol 22: 781-798 (2008). (Pubitemid 351485626)
-
(2008)
Molecular Endocrinology
, vol.22
, Issue.4
, pp. 781-798
-
-
Viger, R.S.1
Guittot, S.M.2
Anttonen, M.3
Wilson, D.B.4
Heikinheimo, M.5
-
178
-
-
0028589588
-
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY -related gene SOX9
-
Wagner T, Wirth J, Meyer J, Zabel B, Held M, et al: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY -related gene SOX9 Cell 79: 1111-1120 (1994).
-
(1994)
Cell
, vol.79
, pp. 1111-1120
-
-
Wagner, T.1
Wirth, J.2
Meyer, J.3
Zabel, B.4
Held, M.5
-
179
-
-
79151484625
-
Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects
-
Warman DM, Costanzo M, Marino R, Berensztein E, Galeano J, et al: Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects. Horm Res Paediatr 75: 70-77 (2011).
-
(2011)
Horm Res Paediatr
, vol.75
, pp. 70-77
-
-
Warman, D.M.1
Costanzo, M.2
Marino, R.3
Berensztein, E.4
Galeano, J.5
-
180
-
-
79955765357
-
Minor abnormalities of testis development in mice lacking the gene encoding the MAPK signalling component, MAP3K1
-
Warr N, Bogani D, Siggers P, Brixey R, Tateossian H, et al: Minor abnormalities of testis development in mice lacking the gene encoding the MAPK signalling component, MAP3K1. PLoS One 6:e19572 (2011).
-
(2011)
PLoS One
, vol.6
-
-
Warr, N.1
Bogani, D.2
Siggers, P.3
Brixey, R.4
Tateossian, H.5
-
181
-
-
68049097102
-
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
-
Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, et al: Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A 149A:1661-1677 (2009).
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 1661-1677
-
-
Wat, M.J.1
Shchelochkov, O.A.2
Holder, A.M.3
Breman, A.M.4
Dagli, A.5
-
182
-
-
34248150313
-
WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p
-
DOI 10.1159/000100032
-
Wieacker P, Volleth M: WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p. Sex Dev 1: 111-113 (2007). (Pubitemid 46714638)
-
(2007)
Sexual Development
, vol.1
, Issue.2
, pp. 111-113
-
-
Wieacker, P.1
Volleth, M.2
-
183
-
-
0037099299
-
The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1
-
DOI 10.1101/gad.220102
-
Wilhelm D, Englert C: The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1 Genes Dev 16: 1839-1851 (2002). (Pubitemid 34803899)
-
(2002)
Genes and Development
, vol.16
, Issue.14
, pp. 1839-1851
-
-
Wilhelm, D.1
Englert, C.2
-
184
-
-
0027305861
-
The orphan receptors NGFI-B and steroidogenic factor 1 establish monomer binding as a third paradigm of nuclear receptor-DNA interaction
-
Wilson TE, Fahrner TJ, Milbrandt J: The orphan receptors NGFI-B and steroidogenic factor 1 establish monomer binding as a third paradigm of nuclear receptor-DNA interaction. Mol Cell Biol 13: 5794-5804 (1993). (Pubitemid 23260680)
-
(1993)
Molecular and Cellular Biology
, vol.13
, Issue.9
, pp. 5794-5804
-
-
Wilson, T.E.1
Fahrner, T.J.2
Milbrandt, J.3
-
185
-
-
20244386714
-
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism
-
DOI 10.1086/430134
-
Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, et al: Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet 76: 833-849 (2005). (Pubitemid 40563104)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.5
, pp. 833-849
-
-
Woods, K.S.1
Cundall, M.2
Turton, J.3
Rizotti, K.4
Mehta, A.5
Palmer, R.6
Wong, J.7
Chong, W.K.8
Al-Zyoud, M.9
El-Ali, M.10
Otonkoski, T.11
Martinez-Barbera, J.-P.12
Thomas, P.Q.13
Robinson, I.C.14
Lovell-Badge, R.15
Woodward, K.J.16
Dattani, M.T.17
-
186
-
-
67649861367
-
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene
-
Wu XL, Gu MM, Huang L, Liu XS, Zhang HX, et al: Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. Am J Hum Genet 85: 53-63 (2009).
-
(2009)
Am J Hum Genet
, vol.85
, pp. 53-63
-
-
Wu, X.L.1
Gu, M.M.2
Huang, L.3
Liu, X.S.4
Zhang, H.X.5
-
187
-
-
63049123701
-
Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis
-
Xu B, Yang WH, Gerin I, Hu CD, Hammer GD, Koenig RJ: Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis. Mol Cell Biol 29: 1719-1734 (2009).
-
(2009)
Mol Cell Biol
, vol.29
, pp. 1719-1734
-
-
Xu, B.1
Yang, W.H.2
Gerin, I.3
Hu, C.D.4
Hammer, G.D.5
Koenig, R.J.6
-
188
-
-
77958610270
-
Synergistic activation of the Mc2r promoter by FOXL2 and NR5A1 in mice
-
Yang WH, Gutierrez NM, Wang L, Ellsworth BS, Wang CM: Synergistic activation of the Mc2r promoter by FOXL2 and NR5A1 in mice. Biol Reprod 83: 842-851 (2010).
-
(2010)
Biol Reprod
, vol.83
, pp. 842-851
-
-
Yang, W.H.1
Gutierrez, N.M.2
Wang, L.3
Ellsworth, B.S.4
Wang, C.M.5
-
189
-
-
0036606827
-
Desert Hedgehog/Patched 1 signaling specifies fetal Leydig cell fate in testis organogenesis
-
DOI 10.1101/gad.981202
-
Yao HH, Whoriskey W, Capel B: Desert Hedgehog/Patched 1 signaling specifies fetal Leydig cell fate in testis organogenesis. Genes Dev 16: 1433-1440 (2002). (Pubitemid 34615095)
-
(2002)
Genes and Development
, vol.16
, Issue.11
, pp. 1433-1440
-
-
Yao, H.H.-C.1
Whoriskey, W.2
Capel, B.3
-
190
-
-
80053921146
-
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription
-
Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, et al: XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet 89: 572-579 (2011).
-
(2011)
Am J Hum Genet
, vol.89
, pp. 572-579
-
-
Zangen, D.1
Kaufman, Y.2
Zeligson, S.3
Perlberg, S.4
Fridman, H.5
-
191
-
-
44649177751
-
Central nervous system-specific knockout of steroidogenic factor 1 results in increased anxiety-like behavior
-
DOI 10.1210/me.2008-0034
-
Zhao L, Kim KW, Ikeda Y, Anderson KK, Beck L, et al: Central nervous system-specific knockout of steroidogenic factor 1 results in increased anxiety-like behavior. Mol Endocrinol 22: 1403-1415 (2008). (Pubitemid 351787000)
-
(2008)
Molecular Endocrinology
, vol.22
, Issue.6
, pp. 1403-1415
-
-
Zhao, L.1
Ki, W.K.2
Ikeda, Y.3
Anderson, K.K.4
Beck, L.5
Chase, S.6
Tobet, S.A.7
Parker, K.L.8
-
192
-
-
20444443970
-
Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure
-
DOI 10.1016/j.fertnstert.2004.12.031, PII S0015028205003663
-
Zhao XX, Suzumori N, Yamaguchi M, Suzumori K: Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure. Fertil Steril 83: 1843-1844 (2005). (Pubitemid 40824825)
-
(2005)
Fertility and Sterility
, vol.83
, Issue.6
, pp. 1843-1844
-
-
Xiao, X.Z.1
Suzumori, N.2
Yamaguchi, M.3
Suzumori, K.4
|