-
1
-
-
0027957103
-
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
-
Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M, et al.: A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genet 7:497-501 (1994).
-
(1994)
Nature Genet
, vol.7
, pp. 497-501
-
-
Bardoni, B.1
Zanaria, E.2
Guioli, S.3
Floridia, G.4
Worley, K.C.5
Tonini, G.6
Ferrante, E.7
Chiumello, G.8
McCabe, E.R.9
Fraccaro, M.10
-
2
-
-
17344369363
-
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: Evidence for conserved function in oogenesis and implications for human sterility
-
Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D: A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J hum Genet 62:533-541 (1998).
-
(1998)
Am J Hum Genet
, vol.62
, pp. 533-541
-
-
Bione, S.1
Sala, C.2
Manzini, C.3
Arrigo, G.4
Zuffardi, O.5
Banfi, S.6
Borsani, G.7
Jonveaux, P.8
Philippe, C.9
Zuccotti, M.10
Ballabio, A.11
Toniolo, D.12
-
3
-
-
0034035992
-
Expression of growth and differentiation factor-9 in the ovaries of fetal sheep homozygous or heterozygous for the Inverdale prolificacy gene (FecX(I))
-
Bodensteiner KJ, McNatty KP, Clay CM, Moeller CL, Sawyer HR: Expression of growth and differentiation factor-9 in the ovaries of fetal sheep homozygous or heterozygous for the Inverdale prolificacy gene (FecX(I)). Biol Reprod 62:1479-1485 (2000).
-
(2000)
Biol Reprod
, vol.62
, pp. 1479-1485
-
-
Bodensteiner, K.J.1
McNatty, K.P.2
Clay, C.M.3
Moeller, C.L.4
Sawyer, H.R.5
-
4
-
-
0022764358
-
Reproduction in Javanese sheep: Evidence for a gene with large effect on ovulation rate and litter size
-
Bradford GE, Quirke JF, Sitorus P, Inounu I, Tiesnamurti B, Bell FL, Fletcher IC, Torell DT: Reproduction in Javanese sheep: evidence for a gene with large effect on ovulation rate and litter size. J anim Sci 63:418-431 (1986).
-
(1986)
J Anim Sci
, vol.63
, pp. 418-431
-
-
Bradford, G.E.1
Quirke, J.F.2
Sitorus, P.3
Inounu, I.4
Tiesnamurti, B.5
Bell, F.L.6
Fletcher, I.C.7
Torell, D.T.8
-
5
-
-
0031194261
-
Spx1, a novel X-linked homeobox gene expressed during spermatogenesis
-
Branford WW, Zhao GQ, Valerius MT, Weinstein M, Birkenmeier EH, Rowe LB, Potter SS: Spx1, a novel X-linked homeobox gene expressed during spermatogenesis. Mech Dev 65:87-98 (1997).
-
(1997)
Mech Dev
, vol.65
, pp. 87-98
-
-
Branford, W.W.1
Zhao, G.Q.2
Valerius, M.T.3
Weinstein, M.4
Birkenmeier, E.H.5
Rowe, L.B.6
Potter, S.S.7
-
6
-
-
0021906689
-
Does X-Y pairing during male meiosis protect the paired region on the X chromosome from subsequent X-inactivation?
-
Burgoyne PS, Mc Laren A: Does X-Y pairing during male meiosis protect the paired region on the X chromosome from subsequent X-inactivation? Hum Genet 70:82-83 (1985).
-
(1985)
Hum Genet
, vol.70
, pp. 82-83
-
-
Burgoyne, P.S.1
Mc Laren, A.2
-
7
-
-
0036550063
-
Sex with two SOX on: SRY and SOX9 in testis development
-
Clarkson MJ, Harley VR: Sex with two SOX on: SRY and SOX9 in testis development. Trends Endocrinol Metab 13:106-111 (2002).
-
(2002)
Trends Endocrinol Metab
, vol.13
, pp. 106-111
-
-
Clarkson, M.J.1
Harley, V.R.2
-
8
-
-
0035131812
-
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
-
Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nature Genet 27: 159-166 (2001).
-
(2001)
Nature Genet
, vol.27
, 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
Ristaldi, M.S.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..
-
9
-
-
0033200373
-
BMP signalling in early Xenopus development
-
Dale L, Jones CM: BMP signalling in early Xenopus development. BioEssays 21:751-760 (1999).
-
(1999)
BioEssays
, vol.21
, pp. 751-760
-
-
Dale, L.1
Jones, C.M.2
-
10
-
-
0035174564
-
Evidence that an imprinted gene on the X chromosome increases ovulation rate in sheep
-
Davis GH, Dodds KG, Wheeler R, Jay NP: Evidence that an imprinted gene on the X chromosome increases ovulation rate in sheep. Biol Reprod 64:216-221 (2001).
-
(2001)
Biol Reprod
, vol.64
, pp. 216-221
-
-
Davis, G.H.1
Dodds, K.G.2
Wheeler, R.3
Jay, N.P.4
-
11
-
-
0025903923
-
Evidence for the presence of a major gene influencing ovulation rate on the X chromosome of sheep
-
Davis GH, McEwan JC, Fennessy PF, Dodds KG, Farquhar PA: Evidence for the presence of a major gene influencing ovulation rate on the X chromosome of sheep. Biol Reprod 44:620-624 (1991).
-
(1991)
Biol Reprod
, vol.44
, pp. 620-624
-
-
Davis, G.H.1
McEwan, J.C.2
Fennessy, P.F.3
Dodds, K.G.4
Farquhar, P.A.5
-
12
-
-
0034065580
-
Mapping of the POF1 locus and identification of putative genes for premature ovarian failure
-
Davison RM, Fox M, Conway GS: Mapping of the POF1 locus and identification of putative genes for premature ovarian failure. Mol hum Reprod 6:314-318 (2000).
-
(2000)
Mol Hum Reprod
, vol.6
, pp. 314-318
-
-
Davison, R.M.1
Fox, M.2
Conway, G.S.3
-
13
-
-
0031781361
-
A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure
-
Davison RM, Quilter CR, Webb J, Murray A, Fisher AM, Valentine A, Serhal P, Conway GS: A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. Hum Reprod 13:3039-3041 (1998).
-
(1998)
Hum Reprod
, vol.13
, pp. 3039-3041
-
-
Davison, R.M.1
Quilter, C.R.2
Webb, J.3
Murray, A.4
Fisher, A.M.5
Valentine, A.6
Serhal, P.7
Conway, G.S.8
-
14
-
-
0029861824
-
Growth differentiation factor-9 is required during early ovarian folliculogenesis
-
Dong J, Albertini DF, Nishimori K, Kumar TR, Lu N, Matzuk MM: Growth differentiation factor-9 is required during early ovarian folliculogenesis. Nature 383:531-535 (1996).
-
(1996)
Nature
, vol.383
, pp. 531-535
-
-
Dong, J.1
Albertini, D.F.2
Nishimori, K.3
Kumar, T.R.4
Lu, N.5
Matzuk, M.M.6
-
15
-
-
0033917569
-
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner
-
Galloway SM, McNatty KP, Cambridge LM, Laitinen MP, Juengel JL, Jokiranta TS, McLaren RJ, Luiro K, Dodds KG, Montgomery GW, Beattie AE, Davis GH, Ritvos O: Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nature Genet 25:279-283 (2000).
-
(2000)
Nature Genet
, vol.25
, pp. 279-283
-
-
Galloway, S.M.1
McNatty, K.P.2
Cambridge, L.M.3
Laitinen, M.P.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
-
16
-
-
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 87:161-165 (2002).
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 161-165
-
-
Hickey, T.1
Chandy, A.2
Norman, R.J.3
-
17
-
-
0029816727
-
Ott, a mouse X-linked multigene family expressed specifically during meiosis
-
Kerr SM, Taggart MH, Lee M, Cooke HJ: Ott, a mouse X-linked multigene family expressed specifically during meiosis. Hum molec Genet 5:1139-1148 (1996).
-
(1996)
Hum Molec Genet
, vol.5
, pp. 1139-1148
-
-
Kerr, S.M.1
Taggart, M.H.2
Lee, M.3
Cooke, H.J.4
-
18
-
-
0033011523
-
Sry and Sox9: Mammalian testis-determining genes
-
Koopman P: Sry and Sox9: mammalian testis-determining genes. Cell molec Life Sci 55:839-856 (1999).
-
(1999)
Cell Molec Life Sci
, vol.55
, pp. 839-856
-
-
Koopman, P.1
-
19
-
-
0023250423
-
Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome
-
Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC: Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med 317:125-131 (1987).
-
(1987)
N Engl J Med
, vol.317
, pp. 125-131
-
-
Krauss, C.M.1
Turksoy, R.N.2
Atkins, L.3
McLaughlin, C.4
Brown, L.G.5
Page, D.C.6
-
20
-
-
0031032805
-
An Egalitarian-BicaudalD complex is essential for oocyte specification and axis determination in Drosophila
-
Mach JM, Lehmann R: An Egalitarian-BicaudalD complex is essential for oocyte specification and axis determination in Drosophila. Genes Dev 11:423-435 (1997).
-
(1997)
Genes Dev
, vol.11
, pp. 423-435
-
-
Mach, J.M.1
Lehmann, R.2
-
21
-
-
0027466437
-
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development
-
McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M: A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc natl Acad Sci, USA 90:3368-3372 (1993).
-
(1993)
Proc Natl Acad Sci, USA
, vol.90
, pp. 3368-3372
-
-
McElreavey, K.1
Vilain, E.2
Abbas, N.3
Herskowitz, I.4
Fellous, M.5
-
22
-
-
0027198581
-
The ovine Booroola fecundity gene (FecB) is linked to markers from a region of human chromosome 4q
-
Montgomery GW, Crawford AM, Penty JM, Dodds KG, Ede AJ, Henry HM, Pierson CA, Lord EA, Galloway SM, Schmack AE, et al.: The ovine Booroola fecundity gene (FecB) is linked to markers from a region of human chromosome 4q [see comments]. Nature Genet 4:410-414 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 410-414
-
-
Montgomery, G.W.1
Crawford, A.M.2
Penty, J.M.3
Dodds, K.G.4
Ede, A.J.5
Henry, H.M.6
Pierson, C.A.7
Lord, E.A.8
Galloway, S.M.9
Schmack, A.E.10
-
23
-
-
0035942223
-
Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Booroola Merino ewes
-
Mulsant P, Lecerf F, Fabre S, Schibler L, Monget P, Lanneluc I, Pisselet C, Riquet J, Monniaux D, Callebaut I, Cribiu E, Thimonier J, Teyssier J, Bodin L, Cognie Y, Chitour N, Elsen JM: Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Booroola Merino ewes. Proc natl Acad Sci, USA 98:5104-5109 (2001).
-
(2001)
Proc Natl Acad Sci, USA
, vol.98
, pp. 5104-5109
-
-
Mulsant, P.1
Lecerf, F.2
Fabre, S.3
Schibler, L.4
Monget, P.5
Lanneluc, I.6
Pisselet, C.7
Riquet, J.8
Monniaux, D.9
Callebaut, I.10
Cribiu, E.11
Thimonier, J.12
Teyssier, J.13
Bodin, L.14
Cognie, Y.15
Chitour, N.16
Elsen, J.M.17
-
24
-
-
0035878326
-
X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes
-
Mumm S, Herrera L, Waeltz PW, Scardovi A, Nagaraja R, Esposito T, Schlessinger D, Rocchi M, Forabosco A: X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes. Genomics 76:30-36 (2001).
-
(2001)
Genomics
, vol.76
, pp. 30-36
-
-
Mumm, S.1
Herrera, L.2
Waeltz, P.W.3
Scardovi, A.4
Nagaraja, R.5
Esposito, T.6
Schlessinger, D.7
Rocchi, M.8
Forabosco, A.9
-
26
-
-
0035733723
-
A 11.7-kb deletion triggers intersexuality and polledness in goats
-
Pailhoux E, Vigier B, Chaffaux S, Servel N, Taourit S, Furet JP, Fellous M, Grosclaude F, Cribiu EP, Cotinot C, Vaiman D: A 11.7-kb deletion triggers intersexuality and polledness in goats. Nature Genet 29:453-458 (2001).
-
(2001)
Nature Genet
, vol.29
, 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
-
27
-
-
0031851092
-
Comparative cytogenetic mapping reveals chromosome rearrangements between the X chromosomes of two closely related mammalian species (cattle and goats)
-
Piumi F, Schibler L, Vaiman D, Oustry A, Cribiu EP: Comparative cytogenetic mapping reveals chromosome rearrangements between the X chromosomes of two closely related mammalian species (cattle and goats). Cytogenet Cell Genet 81:36-41 (1998).
-
(1998)
Cytogenet Cell Genet
, vol.81
, pp. 36-41
-
-
Piumi, F.1
Schibler, L.2
Vaiman, D.3
Oustry, A.4
Cribiu, E.P.5
-
28
-
-
0028087750
-
Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature
-
Powell CM, Taggart RT, Drumheller TC, Wangsa D, Qian C, Nelson LM, White BJ: Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature. Am J med Genet 52:19-26 (1994).
-
(1994)
Am J Med Genet
, vol.52
, pp. 19-26
-
-
Powell, C.M.1
Taggart, R.T.2
Drumheller, T.C.3
Wangsa, D.4
Qian, C.5
Nelson, L.M.6
White, B.J.7
-
29
-
-
0033934014
-
Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene
-
Prueitt RL, Ross JL, Zinn AR: Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene. Cytogenet Cell Genet 89:44-50 (2000).
-
(2000)
Cytogenet Cell Genet
, vol.89
, pp. 44-50
-
-
Prueitt, R.L.1
Ross, J.L.2
Zinn, A.R.3
-
30
-
-
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, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet 16:54-63 (1997).
-
(1997)
Nature 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
Nordsiek, G.11
Heinrich, U.12
Breuning, M.H.13
Ranke, M.B.14
Rosenthal, A.15
Ogata, T.16
Rappold, G.A.17
-
31
-
-
0026667359
-
Sexually antagonistic genes: Experimental evidence
-
Rice WR: Sexually antagonistic genes: experimental evidence. Science 256:1436-1439 (1992).
-
(1992)
Science
, vol.256
, pp. 1436-1439
-
-
Rice, W.R.1
-
32
-
-
0032546009
-
Dax1 antagonizes Sry action in mammalian sex determination
-
Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R: Dax1 antagonizes Sry action in mammalian sex determination. Nature 391:761-767 (1998).
-
(1998)
Nature
, vol.391
, pp. 761-767
-
-
Swain, A.1
Narvaez, V.2
Burgoyne, P.3
Camerino, G.4
Lovell-Badge, R.5
-
33
-
-
0027440971
-
Deletion (X)(q26.1→q28) in a proband and her mother: Molecular characterization and phenotypic-karyotypic deductions
-
Tharapel AT, Anderson KP, Simpson JL, Martens PR, Wilroy Jr RS, Llerena Jr JC, Schwartz CE: Deletion (X)(q26.1→q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. Am J hum Genet 52:463-471 (1993).
-
(1993)
Am J Hum Genet
, vol.52
, pp. 463-471
-
-
Tharapel, A.T.1
Anderson, K.P.2
Simpson, J.L.3
Martens, P.R.4
Wilroy Jr., R.S.5
Llerena Jr., J.C.6
Schwartz, C.E.7
-
34
-
-
0034333215
-
Mammalian intersexes: Deciphering the sex determination cascade
-
Vaiman D, Pailhoux E: Mammalian intersexes: deciphering the sex determination cascade. Trends Genet 16:488-494 (2000).
-
(2000)
Trends Genet
, vol.16
, pp. 488-494
-
-
Vaiman, D.1
Pailhoux, E.2
-
35
-
-
0033521967
-
Female development in mammals is regulated by Wnt-4 signalling
-
Vainio S, Heikkila 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
Heikkila, M.2
Kispert, A.3
Chin, N.4
McMahon, A.P.5
-
36
-
-
0035071815
-
An abundance of X-linked genes expressed in spermatogonia
-
Wang PJ, McCarrey JR, Yang F, Page DC: An abundance of X-linked genes expressed in spermatogonia. Nature Genet 27:422-426 (2001).
-
(2001)
Nature Genet
, vol.27
, pp. 422-426
-
-
Wang, P.J.1
McCarrey, J.R.2
Yang, F.3
Page, D.C.4
-
37
-
-
0031796372
-
Role of Ahch in gonadal development and gametogenesis
-
Yu RN, Ito M, Saunders TL, Camper SA, Jameson JL: Role of Ahch in gonadal development and gametogenesis. Nature Genet 20:353-357 (1998).
-
(1998)
Nature Genet
, vol.20
, pp. 353-357
-
-
Yu, R.N.1
Ito, M.2
Saunders, T.L.3
Camper, S.A.4
Jameson, J.L.5
-
38
-
-
0028558750
-
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
-
Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER, et al.: An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372:635-641 (1994).
-
(1994)
Nature
, vol.372
, pp. 635-641
-
-
Zanaria, E.1
Muscatelli, F.2
Bardoni, B.3
Strom, T.M.4
Guioli, S.5
Guo, W.6
Lalli, E.7
Moser, C.8
Walker, A.P.9
McCabe, E.R.10
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