-
1
-
-
0032990419
-
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
-
Achermann J.C., Ito M., Hindmarsh P.C., Jameson J.L. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat. Genet. 22:1999;125-126
-
(1999)
Nat. Genet.
, vol.22
, pp. 125-126
-
-
Achermann, J.C.1
Ito, M.2
Hindmarsh, P.C.3
Jameson, J.L.4
-
2
-
-
0024576834
-
Familial 46,XY pure gonadal dysgenesis and gonadoblastoma/dysgeminoma: Case report
-
F.D. Berg, R. Kursi, M.J. Hinrichsen, J. Zander, Familial 46, XY pure gonadal dysgenesis and gonadoblastoma/dysgeminoma: case report, Gynecol. Oncol. 32.
-
Gynecol. Oncol.
, vol.32
-
-
Berg, F.D.1
Kursi, R.2
Hinrichsen, M.J.3
Zander, J.4
-
3
-
-
0026335160
-
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: Its relevance to the understanding of sex differentiation
-
Berkovitz G.D., Fechner P.Y., Zacur H.W., et al. Clinical and pathologic spectrum of 46, XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine (Baltimore). 70:1991;375-383
-
(1991)
Medicine (Baltimore)
, vol.70
, pp. 375-383
-
-
Berkovitz, G.D.1
Fechner, P.Y.2
Zacur, H.W.3
-
4
-
-
0027243610
-
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis
-
Fechner P.Y., Marcantonio S.M., Ogata T., Rosales T.O., Smith K.D., Goodfellow P.N., Migeon C.J., Berkovitz G.D. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46, XY partial gonadal dysgenesis. J. Clin. Endocrinol. Metab. 76:1993;1248-1253
-
(1993)
J. Clin. Endocrinol. Metab.
, vol.76
, pp. 1248-1253
-
-
Fechner, P.Y.1
Marcantonio, S.M.2
Ogata, T.3
Rosales, T.O.4
Smith, K.D.5
Goodfellow, P.N.6
Migeon, C.J.7
Berkovitz, G.D.8
-
5
-
-
0032231448
-
A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779
-
Flejter W.L., Fergestad J., Gorski J., Varvill T., Chandrasekharappa S. A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779. Am. J. Hum. Genet. 63:1998;794-802
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 794-802
-
-
Flejter, W.L.1
Fergestad, J.2
Gorski, J.3
Varvill, T.4
Chandrasekharappa, S.5
-
6
-
-
0034613966
-
Localization of SRY by Primed in situ Labeling in XX and XY sex reversal
-
Kadandale J.S., Wachtel S.S., Tunca Y., Wilroy R.S., Martens P.R., Tharapel A.T. Localization of SRY by Primed in situ Labeling in XX and XY sex reversal. Am. J. Med. Genet. 95:2000;71-74
-
(2000)
Am. J. Med. Genet.
, vol.95
, pp. 71-74
-
-
Kadandale, J.S.1
Wachtel, S.S.2
Tunca, Y.3
Wilroy, R.S.4
Martens, P.R.5
Tharapel, A.T.6
-
7
-
-
0033011523
-
SRY and SOX9: Mammalian testis-determining genes
-
Koopman P. SRY and SOX9: mammalian testis-determining genes. Cell. Mol. Life Sci. 55:1999;839-856
-
(1999)
Cell. Mol. Life Sci.
, vol.55
, pp. 839-856
-
-
Koopman, P.1
-
8
-
-
0036648395
-
XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene
-
Moriero C., Calvari V., Rosanda C., Porta S., Gambini C., Panarello C. XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene. Cancer Genet. Cytogenet. 136:2002;58-61
-
(2002)
Cancer Genet. Cytogenet.
, vol.136
, pp. 58-61
-
-
Moriero, C.1
Calvari, V.2
Rosanda, C.3
Porta, S.4
Gambini, C.5
Panarello, C.6
-
9
-
-
0019974331
-
Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis
-
Robboy S.J., Miller T., Donahoe P.K., Jahre C., Welch W.R., Haseltine F.P., et al. Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis. Hum. Pathol. 13:1982;700-716
-
(1982)
Hum. Pathol.
, vol.13
, pp. 700-716
-
-
Robboy, S.J.1
Miller, T.2
Donahoe, P.K.3
Jahre, C.4
Welch, W.R.5
Haseltine, F.P.6
-
10
-
-
0014807623
-
Gonadoblastoma: A review of 74 cases
-
Scully R.E. Gonadoblastoma: a review of 74 cases. Cancer. 25:1970;1340-1356
-
(1970)
Cancer
, vol.25
, pp. 1340-1356
-
-
Scully, R.E.1
-
11
-
-
0036321725
-
Successful pregnancy in a patient with a 46,XY karyotype
-
Selvaraj K., Ganesh V., Selvaraj P. Successful pregnancy in a patient with a 46, XY karyotype. Fertil. Steril. 78:2002;419-420
-
(2002)
Fertil. Steril.
, vol.78
, pp. 419-420
-
-
Selvaraj, K.1
Ganesh, V.2
Selvaraj, P.3
-
12
-
-
0025364886
-
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
-
Sinclair A.H., Berta P., Palmer M.S., Hawkins J.R., Griffiths B.L., Smith M.J., Foster J.W., Frischauf A., Lovell-Badge R., Goodfellow P.N. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 346:1990;240-244
-
(1990)
Nature
, vol.346
, pp. 240-244
-
-
Sinclair, A.H.1
Berta, P.2
Palmer, M.S.3
Hawkins, J.R.4
Griffiths, B.L.5
Smith, M.J.6
Foster, J.W.7
Frischauf, A.8
Lovell-Badge, R.9
Goodfellow, P.N.10
-
13
-
-
0037967242
-
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
-
Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L., Brown L.G., Repping S., Pyntikova T., Ali J., Bieri T., Chinwalla A., Delehaunty A., Delehaunty K., Du H., Fewell G., Fulton L., Fulton R., Graves T., Hou S.F., Latrielle P., Leonard S., Mardis E., Maupin R., McPherson J., Miner T., Nash W., Nguyen C., Ozersky P., Pepin K., Rock S., Rohlfing T., Scott K., Schultz B., Strong C., Tin-Wollam A., Yang S.P., Waterston R.H., Wilson R.K., Rozen S., Page D.C. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 423:2003;825-837
-
(2003)
Nature
, vol.423
, pp. 825-837
-
-
Skaletsky, H.1
Kuroda-Kawaguchi, T.2
Minx, P.J.3
Cordum, H.S.4
Hillier, L.5
Brown, L.G.6
Repping, S.7
Pyntikova, T.8
Ali, J.9
Bieri, T.10
Chinwalla, A.11
Delehaunty, A.12
Delehaunty, K.13
Du, H.14
Fewell, G.15
Fulton, L.16
Fulton, R.17
Graves, T.18
Hou, S.F.19
Latrielle, P.20
Leonard, S.21
Mardis, E.22
Maupin, R.23
McPherson, J.24
Miner, T.25
Nash, W.26
Nguyen, C.27
Ozersky, P.28
Pepin, K.29
Rock, S.30
Rohlfing, T.31
Scott, K.32
Schultz, B.33
Strong, C.34
Tin-Wollam, A.35
Yang, S.P.36
Waterston, R.H.37
Wilson, R.K.38
Rozen, S.39
Page, D.C.40
more..
-
14
-
-
0033798363
-
Androgen insensitivity syndrome (AIS): Emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its conformation by androgen receptor gene mutation analysis
-
Slijper F.M.E., Frets P.G., Boehmer A.L.M., et al. Androgen insensitivity syndrome (AIS): emotional reactions of parents and adult patients to the clinical diagnosis of AIS and its conformation by androgen receptor gene mutation analysis. Horm. Res. 52:2000;9-15
-
(2000)
Horm. Res.
, vol.52
, pp. 9-15
-
-
Slijper, F.M.E.1
Frets, P.G.2
Boehmer, A.L.M.3
-
15
-
-
0027324549
-
Assignment of an autosomal sex reversal locus (SRA1) and camptomelic dysplasia (CMPD1) to 17q24.3-q25.1
-
Tommerup N., Schempp W., Meinecke P., Pedersen S., Bolund L., Brandt C., et al. Assignment of an autosomal sex reversal locus (SRA1) and camptomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat. Genet. 4:1993;170-174
-
(1993)
Nat. Genet.
, vol.4
, pp. 170-174
-
-
Tommerup, N.1
Schempp, W.2
Meinecke, P.3
Pedersen, S.4
Bolund, L.5
Brandt, C.6
-
16
-
-
0035987001
-
Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation
-
Uehara S., Hashiyada M., Sato K., Nata M., Funato T., Okamura K. Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation. J. Hum. Genet. 47:2002;279-284
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 279-284
-
-
Uehara, S.1
Hashiyada, M.2
Sato, K.3
Nata, M.4
Funato, T.5
Okamura, K.6
-
17
-
-
0021916970
-
46,XY gonadal dysgenesis: Is oncogenesis related to H-Y phenotype or breast development
-
Warner B.A., Monsaert R.P., Stumpf P.G., Kulin H.E., Wachtel S.S. 46, XY gonadal dysgenesis: is oncogenesis related to H-Y phenotype or breast development. Hum. Genet. 69:1985;79-85
-
(1985)
Hum. Genet.
, vol.69
, pp. 79-85
-
-
Warner, B.A.1
Monsaert, R.P.2
Stumpf, P.G.3
Kulin, H.E.4
Wachtel, S.S.5
|