-
1
-
-
0028845515
-
Genetics of XY sex reversal
-
Hawkins JR. Genetics of XY sex reversal. J Endocrinol 1995: 147: 183-187.
-
(1995)
J Endocrinol
, vol.147
, pp. 183-187
-
-
Hawkins, J.R.1
-
2
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
Foster JW, Dominguez-Steglich MA, Guiloi S, Kowk G, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brock JD, Schafer AJ. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994: 372: 525-530.
-
(1994)
Nature
, vol.372
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guiloi, S.3
Kowk, G.4
Weller, P.A.5
Stevanovic, M.6
Weissenbach, J.7
Mansour, S.8
Young, I.D.9
Goodfellow, P.N.10
Brock, J.D.11
Schafer, A.J.12
-
3
-
-
0027198809
-
Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of two cases and literature review
-
Wilkie AO, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM. Complete and partial XY sex reversal associated with terminal deletion of 10q: report of two cases and literature review. Am J Med Genet 1993: 46: 597-600.
-
(1993)
Am J Med Genet
, vol.46
, pp. 597-600
-
-
Wilkie, A.O.1
Campbell, F.M.2
Daubeney, P.3
Grant, D.B.4
Daniels, R.J.5
Mullarkey, M.6
Affara, N.A.7
Fitchett, M.8
Huson, S.M.9
-
4
-
-
17344374326
-
An autosomal X linked mutation results in true hermaphrodites and 46,XX males in the same family
-
Slaney SF, Chalmers IJ, Affara NA, Chitty SL. An autosomal X linked mutation results in true hermaphrodites and 46,XX males in the same family. J Med Genet 1998: 35: 17-22.
-
(1998)
J Med Genet
, vol.35
, pp. 17-22
-
-
Slaney, S.F.1
Chalmers, I.J.2
Affara, N.A.3
Chitty, S.L.4
-
5
-
-
15444339558
-
-
Cambridge: Center for Birth Defects Information Services, Inc. and Blackwell Scientific Publications
-
Buyse ML. Birth Defects Encyclopedia, vol. 1. Cambridge: Center for Birth Defects Information Services, Inc. and Blackwell Scientific Publications, 1990: 382-383.
-
(1990)
Birth Defects Encyclopedia
, vol.1
, pp. 382-383
-
-
Buyse, M.L.1
-
6
-
-
0028871377
-
Analysis of clinical variation seen in patients with 18q terminal deletions
-
Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J. Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 1995: 59: 476-483.
-
(1995)
Am J Med Genet
, vol.59
, pp. 476-483
-
-
Strathdee, G.1
Zackai, E.H.2
Shapiro, R.3
Kamholz, J.4
Overhauser, J.5
-
7
-
-
0031936661
-
WebWise: Guide to the Stanford human genome center and the whitehead/MIT genome center web sites
-
Pruitt KD. WebWise: Guide to the Stanford human genome center and the whitehead/MIT genome center web sites. Genome Res 1998: 8: 86-90.
-
(1998)
Genome Res
, vol.8
, pp. 86-90
-
-
Pruitt, K.D.1
-
8
-
-
15444343512
-
Are there specific genetic defects affecting the male reproductive tract? What are the underlying molecular mechanisms?
-
American Society of Andrology, eds. Lawrence, KS: Allen Press
-
Brown TR. Are there specific genetic defects affecting the male reproductive tract? What are the underlying molecular mechanisms? In: American Society of Andrology, eds. Handbook of Andrology. Lawrence, KS: Allen Press, 1995: 40-45.
-
(1995)
Handbook of Andrology
, pp. 40-45
-
-
Brown, T.R.1
-
9
-
-
15444360254
-
Physiology and pathophysiology of fetal sexual differentiation
-
Gluckman P, Heymann MA, eds. New York: Oxford University Press
-
Josso N. Physiology and pathophysiology of fetal sexual differentiation. In: Gluckman P, Heymann MA, eds. Pediatrics and Perinatology, 2nd edition. New York: Oxford University Press, 1996: 194-201.
-
(1996)
Pediatrics and Perinatology, 2nd Edition
, pp. 194-201
-
-
Josso, N.1
-
10
-
-
0026094584
-
Germline mutations in the Wilrns tumor suppressor gene are associated with abnormal urogenital development in the Denys-Drash syndrome
-
Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D. Germline mutations in the Wilrns tumor suppressor gene are associated with abnormal urogenital development in the Denys-Drash syndrome. Cell 1991: 67: 437-447.
-
(1991)
Cell
, vol.67
, pp. 437-447
-
-
Pelletier, J.1
Bruening, W.2
Kashtan, C.E.3
Mauer, S.M.4
Manivel, J.C.5
Striegel, J.E.6
Houghton, D.C.7
Junien, C.8
Habib, R.9
Fouser, L.10
Fine, R.N.11
Silverman, B.L.12
Haber, D.A.13
Housman, D.14
-
11
-
-
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, Zimmer J, Pasantes J, Bricarelli FD, Keutel J, Hustert E, Hustert E, Wolf U, Tommerup N, Schempp W, Scherer G. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994: 79: 1111-1120.
-
(1994)
Cell
, vol.79
, pp. 1111-1120
-
-
Wagner, T.1
Wirth, J.2
Meyer, J.3
Zabel, B.4
Held, M.5
Zimmer, J.6
Pasantes, J.7
Bricarelli, F.D.8
Keutel, J.9
Hustert, E.10
Hustert, E.11
Wolf, U.12
Tommerup, N.13
Schempp, W.14
Scherer, G.15
-
12
-
-
0031052399
-
Hypertelorism and hypospadias with a de novo apparently balanced translocation between 8q22.3-23 and 20p13
-
Tar A, Ion A, Solyom J, Gyorvary B, Stephenson C, Barbaux S, Nunes M, Fellous M, McElreavey K. Hypertelorism and hypospadias with a de novo apparently balanced translocation between 8q22.3-23 and 20p13. Am J Med Genet 1997: 68: 231-235.
-
(1997)
Am J Med Genet
, vol.68
, pp. 231-235
-
-
Tar, A.1
Ion, A.2
Solyom, J.3
Gyorvary, B.4
Stephenson, C.5
Barbaux, S.6
Nunes, M.7
Fellous, M.8
McElreavey, K.9
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