-
1
-
-
0032990419
-
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
-
Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL. 1999. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125-126.
-
(1999)
Nat Genet
, vol.22
, pp. 125-126
-
-
Achermann, J.C.1
Ito, M.2
Ito, M.3
Hindmarsh, P.C.4
Jameson, J.L.5
-
3
-
-
33646224634
-
-
Allera A, Herbst MA, Griffin JE, Wilson JD, Schwelkert HU, McPhaul MJ. 1996
-
Allera A, Herbst MA, Griffin JE, Wilson JD, Schwelkert HU, McPhaul MJ. 1996.
-
-
-
-
4
-
-
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, Zuffardi O, Camcrino G. 1994. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501.
-
(1994)
Nat 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
Zuffardi, O.11
Camcrino, G.12
-
5
-
-
0014207617
-
Male pseudohermaphroditism and pure gonadal dysgenesis in sisters
-
Barr ML, Carr DH, Plunkett ER, Soltan HC, Wiens RG. 1967. Male pseudohermaphroditism and pure gonadal dysgenesis in sisters. Am J Obstet Gynecol 99:1047-1055.
-
(1967)
Am J Obstet Gynecol
, vol.99
, pp. 1047-1055
-
-
Barr, M.L.1
Carr, D.H.2
Plunkett, E.R.3
Soltan, H.C.4
Wiens, R.G.5
-
6
-
-
0027316087
-
Deletion 9p and sex reversal
-
Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D. 1993. Deletion 9p and sex reversal. J Med Genet 30:518-520.
-
(1993)
J Med Genet
, vol.30
, pp. 518-520
-
-
Bennett, C.P.1
Docherty, Z.2
Robb, S.A.3
Ramani, P.4
Hawkins, J.R.5
Grant, D.6
-
7
-
-
0001513001
-
Gonadal histology in patients with male pseudohermaphroditism and atypical gonadal dysgenesis: Relation to theories of sex differentiation
-
Bergada C, Cleveland WW, Jones HW Jr, Wilkins L. 1962. Gonadal histology in patients with male pseudohermaphroditism and atypical gonadal dysgenesis: Relation to theories of sex differentiation. Acta Endocrinol (Copenh) 40:493-520.
-
(1962)
Acta Endocrinol (Copenh)
, vol.40
, pp. 493-520
-
-
Bergada, C.1
Cleveland, W.W.2
Jones H.W., Jr.3
Wilkins, L.4
-
8
-
-
0018889219
-
Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries
-
Bernstein R, Koo GC, Wachtel SS. 1980. Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries. Science 207:768-769.
-
(1980)
Science
, vol.207
, pp. 768-769
-
-
Bernstein, R.1
Koo, G.C.2
Wachtel, S.S.3
-
9
-
-
0025099787
-
Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
-
Call KM, Glaser T, Ito CY, Buckler AJ, Pelletier J, Haber DA, Rose EA, Kral A, Yeger H, Lewis WH, Jones C, Housman DE. 1990. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 60:509-520.
-
(1990)
Cell
, vol.60
, pp. 509-520
-
-
Call, K.M.1
Glaser, T.2
Ito, C.Y.3
Buckler, A.J.4
Pelletier, J.5
Haber, D.A.6
Rose, E.A.7
Kral, A.8
Yeger, H.9
Lewis, W.H.10
Jones, C.11
Housman, D.E.12
-
10
-
-
0018569779
-
A gene for hypospadias in a child with presumed tetrasomy 18p
-
Cote GB, Petmezaki S, Bastakis N. 1979. A gene for hypospadias in a child with presumed tetrasomy 18p. Am J Med Genet 4:141-146.
-
(1979)
Am J Med Genet
, vol.4
, pp. 141-146
-
-
Cote, G.B.1
Petmezaki, S.2
Bastakis, N.3
-
11
-
-
0029360747
-
A family of rapidly evolving genes from the sex reversal critical region in Xp21
-
Dabovic B, Zanaria E, Bardoni B, Lisa A, Bordignon C, Russo V, Matessi C, Traversari C, Camerino G. 1995. A family of rapidly evolving genes from the sex reversal critical region in Xp21. Mamm Genome 6:571-580.
-
(1995)
Mamm Genome
, vol.6
, pp. 571-580
-
-
Dabovic, B.1
Zanaria, E.2
Bardoni, B.3
Lisa, A.4
Bordignon, C.5
Russo, V.6
Matessi, C.7
Traversari, C.8
Camerino, G.9
-
12
-
-
0014930274
-
Familial syndrome of streak gonads and normal male karyotype in five phenotypic females
-
Espiner EA, Veale AM, Sands VE, Fitzgerald PH. 1970. Familial syndrome of streak gonads and normal male karyotype in five phenotypic females. N Engl J Med 283:6-11.
-
(1970)
N Engl J Med
, vol.283
, pp. 6-11
-
-
Espiner, E.A.1
Veale, A.M.2
Sands, V.E.3
Fitzgerald, P.H.4
-
13
-
-
0027243610
-
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis
-
Fechner PY, Marcantonio SM, Ogata T, Rosales TO, Smith KD, Goodfellow PN, Migeon CJ, Berkovitz GD. 1993. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. J Clin Endocrinol Metab 76:1248-1253.
-
(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
-
14
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
Foster JW, Dominguez-Steglich MA, Guioli S, Kowk G, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer AJ. 1994. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530.
-
(1994)
Nature
, vol.372
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, 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
Brook, J.D.11
Schafer, A.J.12
-
15
-
-
0018262106
-
Genetically determined sex-reversal in 46,XY humans
-
German J, Simpson JL, Chaganti RS, Summitt RL, Reid LB, Merkatz IR. 1978. Genetically determined sex-reversal in 46,XY humans. Science 202:53-56.
-
(1978)
Science
, vol.202
, pp. 53-56
-
-
German, J.1
Simpson, J.L.2
Chaganti, R.S.3
Summitt, R.L.4
Reid, L.B.5
Merkatz, I.R.6
-
16
-
-
0032844814
-
Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination
-
Hanley NA, Ball SG, Clement-Jones M, Hagan DM, Strachan T, Lindsay S, Robson S, Ostrer H, Parker KL, Wilson DI. 1999. Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination. Mech Dev 87:175-180.
-
(1999)
Mech Dev
, vol.87
, pp. 175-180
-
-
Hanley, N.A.1
Ball, S.G.2
Clement-Jones, M.3
Hagan, D.M.4
Strachan, T.5
Lindsay, S.6
Robson, S.7
Ostrer, H.8
Parker, K.L.9
Wilson, D.I.10
-
17
-
-
0033994199
-
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development
-
Hanley NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, Salas-Cortes L, McElreavey K, Lindsay S, Robson S, Bullen P, Ostrer H, Wilson DI. 2000. SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mech Dev 91:403-407.
-
(2000)
Mech Dev
, vol.91
, 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
-
18
-
-
0020615253
-
The campomelic syndrome: Review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al. in 1971
-
Houston CS, Opitz JM, Spranger JW, Macpherson RI, Reed MH, Gilbert EF, Herrmann J, Schinzel A. 1983. The campomelic syndrome: Review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al. in 1971. Am J Med Genet 15:3-28.
-
(1983)
Am J Med Genet
, vol.15
, pp. 3-28
-
-
Houston, C.S.1
Opitz, J.M.2
Spranger, J.W.3
Macpherson, R.I.4
Reed, M.H.5
Gilbert, E.F.6
Herrmann, J.7
Schinzel, A.8
-
19
-
-
0018853209
-
Embryonic testicular regression syndrome: Variable phenotypic expression in siblings
-
Josso N, Briard ML. 1980. Embryonic testicular regression syndrome: Variable phenotypic expression in siblings. J Pedriatr 97:200-204.
-
(1980)
J Pedriatr
, vol.97
, pp. 200-204
-
-
Josso, N.1
Briard, M.L.2
-
20
-
-
0029155687
-
Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: A new autosomal recessive syndrome
-
Kennerknecht I, von Saurma P, Brenner R, Just W, Barbi G, Sorgo W, Heinze E, Wolf AS, Schneider V, Gunther K, Teller WM, Vogel W. 1995. Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: A new autosomal recessive syndrome. Am J Med Genet 59:62-67.
-
(1995)
Am J Med Genet
, vol.59
, pp. 62-67
-
-
Kennerknecht, I.1
Von Saurma, P.2
Brenner, R.3
Just, W.4
Barbi, G.5
Sorgo, W.6
Heinze, E.7
Wolf, A.S.8
Schneider, V.9
Gunther, K.10
Teller, W.M.11
Vogel, W.12
-
21
-
-
0017238889
-
Hypospadias in successive generations - Possible dominant gene inheritance
-
Lowry RB, Kliman MR. 1976. Hypospadias in successive generations - Possible dominant gene inheritance. Clin Genet 9:285-288.
-
(1976)
Clin Genet
, vol.9
, pp. 285-288
-
-
Lowry, R.B.1
Kliman, M.R.2
-
22
-
-
0020554808
-
The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: Clinical and genetic studies
-
Mann JR, Corkery JJ, Fisher HJ, Cameron AH, Mayerova A, Wolf U, Kennaugh AA, Woolley V. 1983. The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: Clinical and genetic studies. J Med Genet 20:264-270.
-
(1983)
J Med Genet
, vol.20
, pp. 264-270
-
-
Mann, J.R.1
Corkery, J.J.2
Fisher, H.J.3
Cameron, A.H.4
Mayerova, A.5
Wolf, U.6
Kennaugh, A.A.7
Woolley, V.8
-
23
-
-
0028041111
-
Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene
-
Mendonca BB, Barbosa AS, Arnhold IJ, McElreavey K, Fellous M, Moreira-Filho CA. 1994. Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene. Am J Med Genet 52:39-43.
-
(1994)
Am J Med Genet
, vol.52
, pp. 39-43
-
-
Mendonca, B.B.1
Barbosa, A.S.2
Arnhold, I.J.3
McElreavey, K.4
Fellous, M.5
Moreira-Filho, C.A.6
-
24
-
-
8044219672
-
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: Lack of genotype/phenotype correlations
-
Meyer J, Sudbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, Eggermont E, Friedrich U, Haas OA, Kobelt A, Leroy JG, Van Maldergem L, Michel E, Mitulla B, Pfeiffer RA, Schinzel A, Schmidt H, Scherer G. 1997. Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: Lack of genotype/phenotype correlations. Hum Mol Genet 6:91-98.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 91-98
-
-
Meyer, J.1
Sudbeck, P.2
Held, M.3
Wagner, T.4
Schmitz, M.L.5
Bricarelli, F.D.6
Eggermont, E.7
Friedrich, U.8
Haas, O.A.9
Kobelt, A.10
Leroy, J.G.11
Van Maldergem, L.12
Michel, E.13
Mitulla, B.14
Pfeiffer, R.A.15
Schinzel, A.16
Schmidt, H.17
Scherer, G.18
-
25
-
-
0035009941
-
Hypospadias and the androgen receptor gene: Mutation screening and CAG repeat length analysis
-
Muroya K, Sasagawa I, Suzuki Y, Nakada T, Ishii T, Ogata T. 2001. Hypospadias and the androgen receptor gene: Mutation screening and CAG repeat length analysis. Mol Hum Reprod 7:409-413.
-
(2001)
Mol Hum Reprod
, vol.7
, pp. 409-413
-
-
Muroya, K.1
Sasagawa, I.2
Suzuki, Y.3
Nakada, T.4
Ishii, T.5
Ogata, T.6
-
26
-
-
0024679205
-
Syndrome de regression testiculaire familial
-
Naffah J. 1989. Syndrome de regression testiculaire familial. Bull Acad Natl Med 173:709-714.
-
(1989)
Bull Acad Natl Med
, vol.173
, pp. 709-714
-
-
Naffah, J.1
-
27
-
-
0012118587
-
Dysgénésie gonadique avec chromatine XY
-
Netter A, Netter-Lambert A, Lumbroso P, Delzant G, Trevoux R, de Grouchy J, Lamy M. 1960. Dysgénésie gonadique avec chromatine XY. Ann Endocrinol (Paris) 21:257-265.
-
(1960)
Ann Endocrinol (Paris)
, vol.21
, pp. 257-265
-
-
Netter, A.1
Netter-Lambert, A.2
Lumbroso, P.3
Delzant, G.4
Trevoux, R.5
De Grouchy, J.6
Lamy, M.7
-
28
-
-
0028999664
-
Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis
-
Nordenskjold A, Fricke G, Anvret M. 1995. Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. Hum Genet 96:102-104.
-
(1995)
Hum Genet
, vol.96
, pp. 102-104
-
-
Nordenskjold, A.1
Fricke, G.2
Anvret, M.3
-
29
-
-
33646218112
-
A gene for human testis determination maps to chromosome 5
-
Ostrer H, Jawaheer D, Juo SH, Petit C, Damle A, Dowbak S, Gregersen P, McElreavey K. 2001. A gene for human testis determination maps to chromosome 5. Am J Hum Genet 69(Suppl):A188.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL.
-
-
Ostrer, H.1
Jawaheer, D.2
Juo, S.H.3
Petit, C.4
Damle, A.5
Dowbak, S.6
Gregersen, P.7
McElreavey, K.8
-
30
-
-
0026094584
-
Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in 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. 1991. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 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
-
31
-
-
0018971214
-
XY gonadal dysgenesis in three siblings
-
Phansey SA, Satterfield R, Jorgenson RJ, Salinas CF, Yoder FE, Mathur RS, Williamson HO. 1980. XY gonadal dysgenesis in three siblings. Am J Obstet Gynecol 138:133-138.
-
(1980)
Am J Obstet Gynecol
, vol.138
, pp. 133-138
-
-
Phansey, S.A.1
Satterfield, R.2
Jorgenson, R.J.3
Salinas, C.F.4
Yoder, F.E.5
Mathur, R.S.6
Williamson, H.O.7
-
32
-
-
0033192819
-
5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias
-
Silver RI, Russell DW. 1999. 5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias. J Urol 162:1142-1145.
-
(1999)
J Urol
, vol.162
, pp. 1142-1145
-
-
Silver, R.I.1
Russell, D.W.2
-
33
-
-
0025364886
-
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif
-
Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. 1990. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244.
-
(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.M.8
Lovell-Badge, R.9
Goodfellow, P.N.10
-
34
-
-
0032783178
-
Two cases with interstitial deletions of chromosome 2 and sex reversalin one
-
Slavotinek A, Schwarz C, Getty JF, Stecko O, Goodman F, Kingston H. 1999. Two cases with interstitial deletions of chromosome 2 and sex reversalin one. Am J Med Genet 86:75-81.
-
(1999)
Am J Med Genet
, vol.86
, pp. 75-81
-
-
Slavotinek, A.1
Schwarz, C.2
Getty, J.F.3
Stecko, O.4
Goodman, F.5
Kingston, H.6
-
36
-
-
33646225463
-
-
Sutherland RW, Wiener JS, Hicks JP, Marcelli M, Gonzales ET Jr, Roth DR, Lamb DJ. 1996
-
Sutherland RW, Wiener JS, Hicks JP, Marcelli M, Gonzales ET Jr, Roth DR, Lamb DJ. 1996.
-
-
-
-
37
-
-
0031569887
-
Deletions of distal 9p associated with 46,XY male to female sex reversal: Definition of the breakpoints at 9p23.3-p24.1
-
Veitia R, Nunes M, Brauner R, Doco-Fenzy M, Joanny-Flinois O, Jaubert F, Lortat-Jacob S, Fellous M, McElreavey K. 1997. Deletions of distal 9p associated with 46,XY male to female sex reversal: Definition of the breakpoints at 9p23.3-p24.1. Genomics 41:271-274.
-
(1997)
Genomics
, vol.41
, pp. 271-274
-
-
Veitia, R.1
Nunes, M.2
Brauner, R.3
Doco-Fenzy, M.4
Joanny-Flinois, O.5
Jaubert, F.6
Lortat-Jacob, S.7
Fellous, M.8
McElreavey, K.9
-
38
-
-
0027198809
-
Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review
-
Wilkie AO, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM. 1993. Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review. Am J Med Genet 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
|