-
1
-
-
0028833176
-
Molecular etiology of factor VIII deficiency in hempohilia A
-
Antonarakis, S. K., Kazazian, H. H., and Tuddenham, E. G. D. (1995). Molecular etiology of factor VIII deficiency in hempohilia A. Hum. Mutat. 5, 1-22.
-
(1995)
Hum. Mutat.
, vol.5
, pp. 1-22
-
-
Antonarakis, S.K.1
Kazazian, H.H.2
Tuddenham, E.G.D.3
-
2
-
-
0028264422
-
A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human
-
Agulnik, A. I., Mitchell, M. J., Mattei, M. G., Borsani, G., Avner, P. A., Lerner, J. L., and Bishop, C. E. (1994). A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. Hum. Mol. Genet. 3, 879-84.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 879-884
-
-
Agulnik, A.I.1
Mitchell, M.J.2
Mattei, M.G.3
Borsani, G.4
Avner, P.A.5
Lerner, J.L.6
Bishop, C.E.7
-
3
-
-
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, K. C., Tonini, G., Ferrante, E., Chiumello, G., McCabe, E. R. B., Fraccaro, M., Zuffardi, O., and Camerino, 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.B.9
Fraccaro, M.10
Zuffardi, O.11
Camerino, G.12
-
4
-
-
0026327049
-
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome)
-
Behzadian, M., Tho, S., and McDonough, P. (1991). The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). Am. J. Obstet. Gynecol. 165, 1887-90.
-
(1991)
Am. J. Obstet. Gynecol.
, vol.165
, pp. 1887-1890
-
-
Behzadian, M.1
Tho, S.2
McDonough, P.3
-
5
-
-
0025250731
-
Genetic evidence equating SRY and the testis-determining factor
-
Berta, P., Hawkins, J. R., Sinclair, A. H., Taylor, A., Griffiths, B. L., Goodfellow, P. N., and Fellous, M. (1990). Genetic evidence equating SRY and the testis-determining factor. Nature 348, 448-51.
-
(1990)
Nature
, vol.348
, pp. 448-451
-
-
Berta, P.1
Hawkins, J.R.2
Sinclair, A.H.3
Taylor, A.4
Griffiths, B.L.5
Goodfellow, P.N.6
Fellous, M.7
-
6
-
-
0029113091
-
Wilms' tumor, a paradigm for insights into development and cancer
-
Bruening, W., Winnett, E., and Pelletier, J. (1995). Wilms' tumor, a paradigm for insights into development and cancer. Cancer Invest. 13, 431-43.
-
(1995)
Cancer Invest.
, vol.13
, pp. 431-443
-
-
Bruening, W.1
Winnett, E.2
Pelletier, J.3
-
7
-
-
0022651680
-
Spermatogenic failure in male mice lacking H-Y antigen
-
Burgoyne, P. S., Levy, E. R., and McLaren, A. (1986). Spermatogenic failure in male mice lacking H-Y antigen. Nature 320, 170-2.
-
(1986)
Nature
, vol.320
, pp. 170-172
-
-
Burgoyne, P.S.1
Levy, E.R.2
McLaren, A.3
-
8
-
-
0029840844
-
A novel germ line mutation in SOX-9 causes familial campomelic dysplasia and sex reversal
-
Cameron, V. J., Hageman, R. M., Cooke-Yarborough, C., Kwok, C., Goodwin, L. L., Sillence, D. O., and Sinclair, A. H. (1996). A novel germ line mutation in SOX-9 causes familial campomelic dysplasia and sex reversal. Hum. Mol. Genet. 5, 1625-30.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1625-1630
-
-
Cameron, V.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
-
9
-
-
0022411975
-
Information on the Y chromosome and sex determination from mutants and other variants of sexual development
-
Cattanach, B. M. (1984). Information on the Y chromosome and sex determination from mutants and other variants of sexual development. Arch. Anat. Microsc. Morphol. Exp. 74, 25-32.
-
(1984)
Arch. Anat. Microsc. Morphol. Exp.
, vol.74
, pp. 25-32
-
-
Cattanach, B.M.1
-
10
-
-
0027178898
-
Preimplantation prevention of X-linked disease: Reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences
-
Chong, S. S., Kristjansson, K., Cota, J., Handyside, A. H., and Hughes, M. R. (1993). Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. Hum. Mol. Genet. 2, 1187-91.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1187-1191
-
-
Chong, S.S.1
Kristjansson, K.2
Cota, J.3
Handyside, A.H.4
Hughes, M.R.5
-
11
-
-
0025046415
-
The continuing search for the mammalian sex-determining gene
-
Cooke, H. (1990) The continuing search for the mammalian sex-determining gene. Trends Genet. 6, 273-5.
-
(1990)
Trends Genet.
, vol.6
, pp. 273-275
-
-
Cooke, H.1
-
12
-
-
0029923501
-
A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads
-
Cooke, H. J., Lee, M., Kerr, S., and Ruggiu, M. (1996). A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads. Hum. Mol. Genet. 5, 513-6.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 513-516
-
-
Cooke, H.J.1
Lee, M.2
Kerr, S.3
Ruggiu, M.4
-
13
-
-
0027226089
-
Detection of aneuploidy and chromosomal mosaicism in human embryo during pre-implantation sex determination by fluorescent in situ hybridization (FISH)
-
Delhanty, J. D., Griffin, D. K., Handyside, A. H., Harper, J., Atkinson, G. H., Pieters, M. H., and Winston R. M. (1993). Detection of aneuploidy and chromosomal mosaicism in human embryo during pre-implantation sex determination by fluorescent in situ hybridization (FISH). Hum. Mol. Genet. 2, 1183-5.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1183-1185
-
-
Delhanty, J.D.1
Griffin, D.K.2
Handyside, A.H.3
Harper, J.4
Atkinson, G.H.5
Pieters, M.H.6
Winston, R.M.7
-
14
-
-
0029900958
-
Meiotic cell cycle requirement for a fly homologue of human Deleted in azoospermia
-
Eberhart, C. G., Maines, J. Z., and Wasserman, S. A. (1996). Meiotic cell cycle requirement for a fly homologue of human Deleted in azoospermia. Nature 381, 783-5.
-
(1996)
Nature
, vol.381
, pp. 783-785
-
-
Eberhart, C.G.1
Maines, J.Z.2
Wasserman, S.A.3
-
15
-
-
0014930274
-
Familial syndrome of streak gonads and normal male karyotype in five phenotypic females
-
Espiner, E. A., Veale, A. M., Sands, V. E., and Fitzgerald, P. H. (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
-
16
-
-
0027243610
-
Report of kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis
-
Fechner, P., Marcantonio, S., Ogata, T., Rosales, T., Smith, K., Goodfellow, P., Migeon, C. J., and Berkovitz, G. D. (1993). Report of kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. J. Clin. Endocrinol. Metab. 76, 1248-53.
-
(1993)
J. Clin. Endocrinol. Metab.
, vol.76
, pp. 1248-1253
-
-
Fechner, P.1
Marcantonio, S.2
Ogata, T.3
Rosales, T.4
Smith, K.5
Goodfellow, P.6
Migeon, C.J.7
Berkovitz, G.D.8
-
17
-
-
0029061813
-
Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells
-
Findlay, I., Urquhart, A., Quirke, P., Sullivan, K., Rutherford, A. J., and Lilford, R. J. (1995). Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells. Hum. Reprod. 10, 1005-13.
-
(1995)
Hum. Reprod.
, vol.10
, pp. 1005-1013
-
-
Findlay, I.1
Urquhart, A.2
Quirke, P.3
Sullivan, K.4
Rutherford, A.J.5
Lilford, R.J.6
-
18
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
Foster, J. W., Dominguez-Steglich, M. A., Guioli, S., Kwok, C., Weller, P. A., Stevanovic, M., Weissenbach, J., Mansour, S., Young, I. D., Goodfellow, P. N., Brook, J. D., and Schafer, A. J. (1994). Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372, 525.
-
(1994)
Nature
, vol.372
, pp. 525
-
-
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
-
19
-
-
0027089750
-
Identification of a second pseudoautosomal region near the Xq and Yq telomeres
-
Freije, D., Helms, C., Watson, M. S., and Donis-Keller, H. (1992). Identification of a second pseudoautosomal region near the Xq and Yq telomeres. Science. 258, 1784-7.
-
(1992)
Science
, vol.258
, pp. 1784-1787
-
-
Freije, D.1
Helms, C.2
Watson, M.S.3
Donis-Keller, H.4
-
20
-
-
0011783623
-
One for a boy, two for a girl?
-
The Genetics Review Group. (1995). One for a boy, two for a girl? Curr. Biol. 5, 37.
-
(1995)
Curr. Biol.
, vol.5
, pp. 37
-
-
-
22
-
-
0023754181
-
Somatic mosaicism: Observations related to clinical genetics
-
Hall, J. G. (1988). Somatic mosaicism: Observations related to clinical genetics. Am. J. Hum. Genet. 43, 355-63.
-
(1988)
Am. J. Hum. Genet.
, vol.43
, pp. 355-363
-
-
Hall, J.G.1
-
23
-
-
0025307919
-
Biopsy of stage human embryos and diagnosis of single gene defects by DNA amplification
-
Handyside, A. H., Kontogianni, E. H., Hardy, K., and Winston, R. (1990). Biopsy of stage human embryos and diagnosis of single gene defects by DNA amplification. Nature 344, 768-70.
-
(1990)
Nature
, vol.344
, pp. 768-770
-
-
Handyside, A.H.1
Kontogianni, E.H.2
Hardy, K.3
Winston, R.4
-
24
-
-
0027936497
-
Sex determination
-
Hawkins, J. R. (1994). Sex determination. Hum. Mol. Genet. 3, 1463-7.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1463-1467
-
-
Hawkins, J.R.1
-
25
-
-
0343581228
-
Paternal somatic and germ line mosaicism for a sex determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal
-
Hines, R. S., Tho, S. P. T., Zhang, Y. Y., Plouffe, L., Hansen, K. A., Khan, I., and McDonough, P. G. (1997). Paternal somatic and germ line mosaicism for a sex determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal. Fertil. Steril. 67, 675-9.
-
(1997)
Fertil. Steril.
, vol.67
, pp. 675-679
-
-
Hines, R.S.1
Tho, S.P.T.2
Zhang, Y.Y.3
Plouffe, L.4
Hansen, K.A.5
Khan, I.6
McDonough, P.G.7
-
26
-
-
0029416826
-
An STS based Map of the human genome
-
Hudson, T. J., Stein, L. D., Gerety, S. S., Ma, J., Castle, A. B., Silva, J., Slonim, D. K., Baptista, R., Kruglyak, L., Xu, S.-H., Hu, X., Colbert, A. M. E., Rosenberg, C., Reeve-Daly, M. P., Rozen, S., Hui, L., Wu, X., Vestergaard, C., Wilson, K. M., Bae, J. S., Maitra, S., Ganiatsas, S., Evans, C. A., DeAngelis, M. M., Ingalls, K. A., Nahf, R. W., Horton, L. T. Jr, Anderson, M. O., Collymore, A. J., Ye, W., Kouyoumijan, V., Zemsteva, I. S., Tam, J., Devine, R., Courtney, D. F., Renaud, M. T., Nguyen, H., O'Connor, T. J., Fizames, C., Fauré, S., Gyapay, G., Dib, C., Morissette, J., Orlin, J. B., Birren, B. W., Goodman, N., Weissenbach, J., Hawkins, T. L., Foote, S., Page, D. C., and Lander, E. S. (1995). An STS based Map of the human genome. Science 270, 1945-54.
-
(1995)
Science
, vol.270
, pp. 1945-1954
-
-
Hudson, T.J.1
Stein, L.D.2
Gerety, S.S.3
Ma, J.4
Castle, A.B.5
Silva, J.6
Slonim, D.K.7
Baptista, R.8
Kruglyak, L.9
Xu, S.-H.10
Hu, X.11
Colbert, A.M.E.12
Rosenberg, C.13
Reeve-Daly, M.P.14
Rozen, S.15
Hui, L.16
Wu, X.17
Vestergaard, C.18
Wilson, K.M.19
Bae, J.S.20
Maitra, S.21
Ganiatsas, S.22
Evans, A.C.23
DeAngelis, M.M.24
Ingalls, K.A.25
Nahf, R.W.26
Horton L.T., Jr.27
Anderson, M.O.28
Collymore, A.J.29
Ye, W.30
Kouyoumijan, V.31
Zemsteva, I.S.32
Tam, J.33
Devine, R.34
Courtney, D.F.35
Renaud, M.T.36
Nguyen, H.37
O'Connor, T.J.38
Fizames, C.39
Fauré, S.40
Gyapay, G.41
Dib, C.42
Morissette, J.43
Orlin, J.B.44
Birren, B.W.45
Goodman, N.46
Weissenbach, J.47
Hawkins, T.L.48
Foote, S.49
Page, C.D.50
Lander, E.S.51
more..
-
27
-
-
0028276035
-
Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases
-
Ikeda, Y., Shen, W-H., Ingraham, H. A., and Parker, K. L. (1994). Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases. Mol. Endocrinol. 8, 654-62.
-
(1994)
Mol. Endocrinol.
, vol.8
, pp. 654-662
-
-
Ikeda, Y.1
Shen, W.-H.2
Ingraham, H.A.3
Parker, K.L.4
-
28
-
-
0027050688
-
A familial mutation in the testis-determining gene SRY shared by both sexes
-
Jager, R., Harley, V., Pfeiffer, R., Goodfellow, P., and Schere, G. (1992). A familial mutation in the testis-determining gene SRY shared by both sexes.Hum. Genet. 90, 350-5.
-
(1992)
Hum. Genet.
, vol.90
, pp. 350-355
-
-
Jager, R.1
Harley, V.2
Pfeiffer, R.3
Goodfellow, P.4
Schere, G.5
-
29
-
-
10344260798
-
Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males
-
Jobling, M. A., Samara, V., Pandya, A., Fretwell, N., Bernasconi, B., Mitchell, R. J., Geresaikhan, T., Dashnyam, B., Sajantial, A., Salao, P. J., Nakahori, Y., Disteche, C. M., Thangara, K., Singh, L., Crawford, M. H., and Tyler-Smith, C. (1996). Recurrent duplication and deletion polymorphisms on the long arm of the Y chromosome in normal males. Hum. Mol. Genet. 5, 1767-75.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1767-1775
-
-
Jobling, M.A.1
Samara, V.2
Pandya, A.3
Fretwell, N.4
Bernasconi, B.5
Mitchell, R.J.6
Geresaikhan, T.7
Dashnyam, B.8
Sajantial, A.9
Salao, P.J.10
Nakahori, Y.11
Disteche, C.M.12
Thangara, K.13
Singh, L.14
Crawford, M.H.15
Tyler-Smith, C.16
-
30
-
-
0024806048
-
Molecular scanning of the Yq11 (interval 6) in men with Sertoli-cell-only syndrome
-
Johnson, M. D., Tho, S. P. T., Behzadian, A., and McDonough, P. G. (1989). Molecular scanning of the Yq11 (interval 6) in men with Sertoli-cell-only syndrome. Am. J. Obstet. Gynecol. 161, 1732-7.
-
(1989)
Am. J. Obstet. Gynecol.
, vol.161
, pp. 1732-1737
-
-
Johnson, M.D.1
Tho, S.P.T.2
Behzadian, A.3
McDonough, P.G.4
-
31
-
-
0028859541
-
Bax-deficient mice with lymphoid hyperplasia and male germ cell death
-
Knudson, M. C., Tung, K. S. K., Tourtellote, W. G., Brown, G. A. J., and Korsmeyer, S. J. (1995). Bax-deficient mice with lymphoid hyperplasia and male germ cell death. Science 270, 96-8.
-
(1995)
Science
, vol.270
, pp. 96-98
-
-
Knudson, M.C.1
Tung, K.S.K.2
Tourtellote, W.G.3
Brown, G.A.J.4
Korsmeyer, S.J.5
-
32
-
-
0025877323
-
Male development of chromosomally female mice transgenic for Sry
-
Koopman, P., Gubbay, J., Vivian, N., Goodfellow, P., and Lovell-Badge, R. (1991). Male development of chromosomally female mice transgenic for Sry. Nature 351, 117.
-
(1991)
Nature
, vol.351
, pp. 117
-
-
Koopman, P.1
Gubbay, J.2
Vivian, N.3
Goodfellow, P.4
Lovell-Badge, R.5
-
33
-
-
1842353216
-
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
-
Kunkel, L. M., Smith, K. D., Boyer, S. H., Borgaonkar, D. S., Wachtel, S. S., Miller, O. J., Breg, W. R., Jones, H. W. Jr., and Rary, J. M. (1977). Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc. Natl. Acad. Sci. USA 74, 1245-9.
-
(1977)
Proc. Natl. Acad. Sci. USA
, vol.74
, pp. 1245-1249
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
Borgaonkar, D.S.4
Wachtel, S.S.5
Miller, O.J.6
Breg, W.R.7
Jones H.W., Jr.8
Rary, J.M.9
-
34
-
-
0028091740
-
Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq-karyotype
-
Lahn, B. T., Ma, N., Breg, W. R., Stratton, R., Surti, U. and Page, D. C. (1994). Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq-karyotype Nat. Gen. 8, 243-50.
-
(1994)
Nat. Gen.
, vol.8
, pp. 243-250
-
-
Lahn, B.T.1
Ma, N.2
Breg, W.R.3
Stratton, R.4
Surti, U.5
Page, D.C.6
-
35
-
-
0030725069
-
Functional coherence of the Y chromosome
-
Lahn, B. T., and Page, D. C. (1997). Functional coherence of the Y chromosome. Science. 278, 675-80.
-
(1997)
Science.
, vol.278
, pp. 675-680
-
-
Lahn, B.T.1
Page, D.C.2
-
36
-
-
0027520025
-
Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
-
Lakich, D., Zazazian, H. H. Jr., Antonarakis, S. E., and Gitschier, J. (1993). Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat. Genet. 5, 236-8.
-
(1993)
Nat. Genet.
, vol.5
, pp. 236-238
-
-
Lakich, D.1
Zazazian H.H., Jr.2
Antonarakis, S.E.3
Gitschier, J.4
-
37
-
-
0027935583
-
Animal models that mimic human male reproductive defects
-
Lamb, D. J., and Niederberger, C. S. (1994). Animal models that mimic human male reproductive defects. Urol. Clin. N. Amer. 21, 377-87.
-
(1994)
Urol. Clin. N. Amer.
, vol.21
, pp. 377-387
-
-
Lamb, D.J.1
Niederberger, C.S.2
-
38
-
-
0028303959
-
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
-
Luo, X., Ikeda, Y., and Parker, K. L. (1994). A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77, 481-90.
-
(1994)
Cell
, vol.77
, pp. 481-490
-
-
Luo, X.1
Ikeda, Y.2
Parker, K.L.3
-
39
-
-
0026621796
-
α-Inhibin is a tumor-suppressor gene with gonadal specificity in mice
-
Matzuk, M. M., Finegold, M. J., Su, J-G. J., Hsueh, A. J. W., and Bradley, A. (1992). α-Inhibin is a tumor-suppressor gene with gonadal specificity in mice. Nature 360, 313-19.
-
(1992)
Nature
, vol.360
, pp. 313-319
-
-
Matzuk, M.M.1
Finegold, M.J.2
Su, J.-G.J.3
Hsueh, A.J.W.4
Bradley, A.5
-
40
-
-
0022636738
-
Use of two different deoxyribonucleic acid probes to detect Y chromosome deoxyribonucleic acid in subjects with normal and altered Y chromosomes
-
McDonough, P. G., Tho, S. P., Trill, J. J., Byrd, J. R., Reindollar, R. H., and Tischfield, J. A. (1986) Use of two different deoxyribonucleic acid probes to detect Y chromosome deoxyribonucleic acid in subjects with normal and altered Y chromosomes. Am. J. Obstet. Gynecol. 154, 737-48.
-
(1986)
Am. J. Obstet. Gynecol.
, vol.154
, pp. 737-748
-
-
McDonough, P.G.1
Tho, S.P.2
Trill, J.J.3
Byrd, J.R.4
Reindollar, R.H.5
Tischfield, J.A.6
-
41
-
-
0026689283
-
Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: Point-mutation in SRY causing sex-reversion in a 46,XY female
-
Müller, J., Schwartz, M., and Skakkebaek, N. (1992). Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. J. Clin. Endocrinol. Metab. 75, 331-3.
-
(1992)
J. Clin. Endocrinol. Metab.
, vol.75
, pp. 331-333
-
-
Müller, J.1
Schwartz, M.2
Skakkebaek, N.3
-
42
-
-
0028598360
-
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism
-
Muscatelli, F., Strom, T. M., Walker, A. P., Zanarie, E., Recan, D., Meindi, A., Schwarz, H. P., Kaplan, J. C., Camerino, G., Meltinger, T., and Monaco, A. P. (1994). Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Nature 372, 672-6.
-
(1994)
Nature
, vol.372
, pp. 672-676
-
-
Muscatelli, F.1
Strom, T.M.2
Walker, A.P.3
Zanarie, E.4
Recan, D.5
Meindi, A.6
Schwarz, H.P.7
Kaplan, J.C.8
Camerino, G.9
Meltinger, T.10
Monaco, A.P.11
-
43
-
-
9244243681
-
Substantial prevalence of microdeletions of the Y-chromsome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy
-
Najmabadi, H., Huang, V., Yen, P., Subbarao, M. N., Bhasin, D., Banaag, L., Naseeruddin, S., de Kretser, D. M., Baker, H. W. G., McLachlan, R. K., Loveland, K. A., and Bhasin, S. (1996). Substantial prevalence of microdeletions of the Y-chromsome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J. Clin. Endocrinol. Metab. 81, 1347-52.
-
(1996)
J. Clin. Endocrinol. Metab.
, vol.81
, pp. 1347-1352
-
-
Najmabadi, H.1
Huang, V.2
Yen, P.3
Subbarao, M.N.4
Bhasin, D.5
Banaag, L.6
Naseeruddin, S.7
De Kretser, D.M.8
Baker, H.W.G.9
McLachlan, R.K.10
Loveland, K.A.11
Bhasin, S.12
-
44
-
-
0030690161
-
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita
-
Nakae, J., Abe, S., Tajima, T., Shinohara, N., Murashita, M., Igarashi, Y., Kusuda, S., Suzuki, J., and Fujieda, K. (1997). Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. J. Clin. Endocrinol. Metab. 82, 3835-41.
-
(1997)
J. Clin. Endocrinol. Metab.
, vol.82
, pp. 3835-3841
-
-
Nakae, J.1
Abe, S.2
Tajima, T.3
Shinohara, N.4
Murashita, M.5
Igarashi, Y.6
Kusuda, S.7
Suzuki, J.8
Fujieda, K.9
-
45
-
-
0027340359
-
Analysis of factor VIII mRNA defects in every one of 28 haemophilia a patients
-
Naylor, J. A., Green P. M., Rizza C. R., and Giannelli, F. (1993). Analysis of factor VIII mRNA defects in every one of 28 haemophilia A patients. Hum. Mol. Genet. 2, 11-17.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 11-17
-
-
Naylor, J.A.1
Green, P.M.2
Rizza, C.R.3
Giannelli, F.4
-
46
-
-
0023663890
-
The sex determining region of the human Y chromoome encodes a finger protein
-
Page, D. C., Mosher, R., Simpson, E. M., Fisher, E. M. C., Mardon, G., Pollack, J., McGillivray, B., de la Chapelle, A., and Brown L G. (1987). The sex determining region of the human Y chromoome encodes a finger protein. Cell 51, 1091-110.
-
(1987)
Cell
, vol.51
, pp. 1091-1110
-
-
Page, D.C.1
Mosher, R.2
Simpson, E.M.3
Fisher, E.M.C.4
Mardon, G.5
Pollack, J.6
McGillivray, B.7
De La Chapelle, A.8
Brown, L.G.9
-
47
-
-
0021153792
-
Transmission distortion and mosaicism in an unusual transgenic mouse pedigree
-
Palmiter, R., Wilkie, T., Chen, H. Y., and Brinster, R. (1984). Transmission distortion and mosaicism in an unusual transgenic mouse pedigree. Cell 36, 869-77.
-
(1984)
Cell
, vol.36
, pp. 869-877
-
-
Palmiter, R.1
Wilkie, T.2
Chen, H.Y.3
Brinster, R.4
-
48
-
-
0030218934
-
The roles of the nuclear receptor steroidogenic factor 1 in endocrine differentiation and development
-
Parker, K. L., and Schimmer, B. P. (1996). The roles of the nuclear receptor steroidogenic factor 1 in endocrine differentiation and development. Trends in Endocrinology and Metabolism 7, 203-7.
-
(1996)
Trends in Endocrinology and Metabolism
, vol.7
, pp. 203-207
-
-
Parker, K.L.1
Schimmer, B.P.2
-
49
-
-
0029937739
-
A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis
-
Ramon Bilbao, J., Loridan, L., and Castano, L. (1996). A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis. Hum. Genet. 97, 537-9.
-
(1996)
Hum. Genet.
, vol.97
, pp. 537-539
-
-
Ramon Bilbao, J.1
Loridan, L.2
Castano, L.3
-
50
-
-
0029871858
-
Severe oligospermia from deletions of the azoospermia factor sene on Y chromosome
-
Reijo, R., Alaqappan, R. K., Patrizio, P., and Page, D. C. (1996). Severe oligospermia from deletions of the azoospermia factor sene on Y chromosome. Lancet 347, 1290-3.
-
(1996)
Lancet
, vol.347
, pp. 1290-1293
-
-
Reijo, R.1
Alaqappan, R.K.2
Patrizio, P.3
Page, D.C.4
-
51
-
-
0029088061
-
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
-
Reijo, R., Lee, T.-Y., Salo, P., Alagappan, R., Brown, L. G., Rosenberg, M., Steve, R., Jaffe, T., Straus, D., Hovatta, O., de la Chappelle, A., Silber, S., and Page, D. C. (1995). Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat. Genet. 10, 383-93.
-
(1995)
Nat. Genet.
, vol.10
, pp. 383-393
-
-
Reijo, R.1
Lee, T.-Y.2
Salo, P.3
Alagappan, R.4
Brown, L.G.5
Rosenberg, M.6
Steve, R.7
Jaffe, T.8
Straus, D.9
Hovatta, O.10
De La Chappelle, A.11
Silber, S.12
Page, D.C.13
-
52
-
-
0030885623
-
The mouse DAZLa gene encodes a cytoplasmic protein essential for gametogenesis
-
Ruggiu, M., Speed, R., Taggart, M., McKay, S. J., Kilanowski, F., Saunders, P. H., Dorin, J., and Cooke, H. J. (1997). The mouse DAZLA gene encodes a cytoplasmic protein essential for gametogenesis. Nature 389, 73-7.
-
(1997)
Nature
, vol.389
, pp. 73-77
-
-
Ruggiu, M.1
Speed, R.2
Taggart, M.3
McKay, S.J.4
Kilanowski, F.5
Saunders, P.H.6
Dorin, J.7
Cooke, H.J.8
-
53
-
-
0030292382
-
The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned
-
Saxena, R., Brown, L. G., Hawkins, T., Alagappan, R. K., Skaletsky, H., Reeve, M. P., Reijo, R., Rozen, S., Dinulos, M. B., Disteche, C. M., and Page, D. C. (1996). The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat. Genet. 14, 292-9.
-
(1996)
Nat. Genet.
, vol.14
, pp. 292-299
-
-
Saxena, R.1
Brown, L.G.2
Hawkins, T.3
Alagappan, R.K.4
Skaletsky, H.5
Reeve, M.P.6
Reijo, R.7
Rozen, S.8
Dinulos, M.B.9
Disteche, C.M.10
Page, D.C.11
-
54
-
-
0029176442
-
Sex determination and its pathology in man
-
Eds J. G. Scandalios and T. R. G. Wrigh. Academic Press: San Diego
-
Schafer, A. J. (1995). Sex determination and its pathology in man. In 'Advances in Genetics'. (Eds J. G. Scandalios and T. R. G. Wrigh.) Vol. 33, pp. 275-329. (Academic Press: San Diego).
-
(1995)
Advances in Genetics
, vol.33
, pp. 275-329
-
-
Schafer, A.J.1
-
55
-
-
0024592501
-
Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man
-
Scherer, G., Schempp, W., Baccichetti, C., Lenzini, E., Bricarelli, F., Carbone, L., and Wolf, U. (1989). Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man. Hum. Genet. 81, 291-4.
-
(1989)
Hum. Genet.
, vol.81
, pp. 291-294
-
-
Scherer, G.1
Schempp, W.2
Baccichetti, C.3
Lenzini, E.4
Bricarelli, F.5
Carbone, L.6
Wolf, U.7
-
56
-
-
0028960403
-
Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers
-
Schmitt-Ney, M., Hannelore, T., Kaltwaber, P., Bardoni, B., Cisternino, M., and Scherer, G. (1995). Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am. J. Hum. Genet. 56, 862-9.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 862-869
-
-
Schmitt-Ney, M.1
Hannelore, T.2
Kaltwaber, P.3
Bardoni, B.4
Cisternino, M.5
Scherer, G.6
-
57
-
-
0029096075
-
Identification of a male-specific transplantation antigen, H-Y
-
Scott, D. M., Ehrmann, I. E., Ellis, P. S., Bishop, C. E., Agulnik, A. I., Simpson, E., and Mitchell, M. J. (1995). Identification of a male-specific transplantation antigen, H-Y. Nature 376, 695-8.
-
(1995)
Nature
, vol.376
, pp. 695-698
-
-
Scott, D.M.1
Ehrmann, I.E.2
Ellis, P.S.3
Bishop, C.E.4
Agulnik, A.I.5
Simpson, E.6
Mitchell, M.J.7
-
58
-
-
0031569890
-
Gene sequence, localization, and evolutionary conservation of DAZLA, candidate male sterility gene
-
Seboun, E., Barbaux, S., Bourgeron, T., Nishi, S., Algonik, A., Egashira, M., Nikkawa, N., Bishop, C., Fellous, M., McElreavey, K., and Kasahara, M. (1997). Gene sequence, localization, and evolutionary conservation of DAZLA, candidate male sterility gene. Genomics 41, 227-35.
-
(1997)
Genomics
, vol.41
, pp. 227-235
-
-
Seboun, E.1
Barbaux, S.2
Bourgeron, T.3
Nishi, S.4
Algonik, A.5
Egashira, M.6
Nikkawa, N.7
Bishop, C.8
Fellous, M.9
McElreavey, K.10
Kasahara, M.11
-
59
-
-
0028308118
-
Nuclear receptor steroidogenic factor 1 regulates the Müllerian inhibiting substance gene: A link to the sex determination cascade
-
Shen, W-H., Moore, C. C. D., Ikeda, Y., Parker, K. L., and Ingraham, H. A. (1994). Nuclear receptor steroidogenic factor 1 regulates the Müllerian inhibiting substance gene: a link to the sex determination cascade. Cell 77, 651-61.
-
(1994)
Cell
, vol.77
, pp. 651-661
-
-
Shen, W.-H.1
Moore, C.C.D.2
Ikeda, Y.3
Parker, K.L.4
Ingraham, H.A.5
-
60
-
-
0023277752
-
Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome
-
Simpson, E., Chandler, P., Goulmy, E., Disteche, C. M., Ferguson-Smith, M. A., and Page, D. C. (1987). Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome. Nature 326, 876-8.
-
(1987)
Nature
, vol.326
, pp. 876-878
-
-
Simpson, E.1
Chandler, P.2
Goulmy, E.3
Disteche, C.M.4
Ferguson-Smith, M.A.5
Page, D.C.6
-
61
-
-
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, J. J., Foster, J. W., Frischauf, A-M., Lovell-Badge, R., and Goodfellow, P. N. (1990). A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346, 240-5.
-
(1990)
Nature
, vol.346
, pp. 240-245
-
-
Sinclair, A.H.1
Berta, P.2
Palmer, M.S.3
Hawkins, J.R.4
Griffiths, B.L.5
Smith, J.J.6
Foster, J.W.7
Frischauf, A.-M.8
Lovell-Badge, R.9
Goodfellow, P.N.10
-
62
-
-
0024548970
-
Sex chromosome pairing patterns in male mice of novel Sxr genotypes
-
Tease, C., and Cattanach, B. M. (1989). Sex chromosome pairing patterns in male mice of novel Sxr genotypes. Chromosoma 97, 390-5.
-
(1989)
Chromosoma
, vol.97
, pp. 390-395
-
-
Tease, C.1
Cattanach, B.M.2
-
63
-
-
0024246334
-
Use of human alpha-satellite deoxyribonucleic acid to detect Y-specific centromeric sequences
-
Tho, S. P., Behzadian, A., Byrd, J. R., and McDonough, P. G. (1988). Use of human alpha-satellite deoxyribonucleic acid to detect Y-specific centromeric sequences. Am. J. Obstet. Gynecol. 159, 1553-7.
-
(1988)
Am. J. Obstet. Gynecol.
, vol.159
, pp. 1553-1557
-
-
Tho, S.P.1
Behzadian, A.2
Byrd, J.R.3
McDonough, P.G.4
-
64
-
-
0026030872
-
Detection and amplification of Y sequences
-
Ed. P. G. McDonough. Thieme Medical Publishers: New York
-
Tho, S. P. T., and Behzadian, A. (1991). Detection and amplification of Y sequences. In 'Seminars in Reproductive Endocrinology'. (Ed. P. G. McDonough.) pp. 46-55. (Thieme Medical Publishers: New York.)
-
(1991)
Seminars in Reproductive Endocrinology
, pp. 46-55
-
-
Tho, S.P.T.1
Behzadian, A.2
-
65
-
-
0026727304
-
Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locus in most subjects with gonadal dysgenesis caused by Y aneuploidy
-
Tho, S. P. T., Layman, L. C., Lanclos, K. D., Plouffe L. Jr, Byrd, J. R., and McDonough, P. G. (1992). Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locus in most subjects with gonadal dysgenesis caused by Y aneuploidy. Am. J. Obstet. Gynecol. 167, 1794-802.
-
(1992)
Am. J. Obstet. Gynecol.
, vol.167
, pp. 1794-1802
-
-
Tho, S.P.T.1
Layman, L.C.2
Lanclos, K.D.3
Plouffe L., Jr.4
Byrd, J.R.5
McDonough, P.G.6
-
66
-
-
0028807452
-
Gonadoblastoma: Molecular definition of the susceptibility region of the Y chromosome
-
Tsuchiya, K., Reijo, R., Page, D., and Disteche C. M. (1995). Gonadoblastoma: molecular definition of the susceptibility region of the Y chromosome. Am. J. Hum. Genet. 57, 1400-7.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1400-1407
-
-
Tsuchiya, K.1
Reijo, R.2
Page, D.3
Disteche, C.M.4
-
67
-
-
0023644911
-
Structure of the major block of alphoid satellite DNA on the human Y chromosome
-
Tyler-Smith, C., and Brown, W. R. (1987). Structure of the major block of alphoid satellite DNA on the human Y chromosome. J. Mol. Biol. 195, 457-70.
-
(1987)
J. Mol. Biol.
, vol.195
, pp. 457-470
-
-
Tyler-Smith, C.1
Brown, W.R.2
-
68
-
-
0026726199
-
Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene
-
Vogt, P., Chandley, A. C., Hargreave, T. B., Keil, R., Ma, K., and Sharkey, A. (1992). Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum. Genet. 89, 491-6.
-
(1992)
Hum. Genet.
, vol.89
, pp. 491-496
-
-
Vogt, P.1
Chandley, A.C.2
Hargreave, T.B.3
Keil, R.4
Ma, K.5
Sharkey, A.6
-
69
-
-
0007272350
-
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
-
Vogt, P. H., Edelmann, A., Kirsch, S., Henegariu, O., Hirschmann, P., Kiesewetter, F., Kohn, F. M., Schill, W. B., Farah, S., Ramos, C., Hartmann, M., Hartschuh, W., Meschede, D., Behre, H. M., Castel, A., Nieschlag, E., Weidner, W., Grone, H.-.J., Jung, A., Engel, W., and Haidl, G. (1996). Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5, 933-43.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 933-943
-
-
Vogt, P.H.1
Edelmann, A.2
Kirsch, S.3
Henegariu, O.4
Hirschmann, P.5
Kiesewetter, F.6
Kohn, F.M.7
Schill, W.B.8
Farah, S.9
Ramos, C.10
Hartmann, M.11
Hartschuh, W.12
Meschede, D.13
Behre, H.M.14
Castel, A.15
Nieschlag, E.16
Weidner, W.17
Grone, H.-J.18
Jung, A.19
Engel, W.20
Haidl, G.21
more..
-
70
-
-
0028589588
-
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-reglated gene SOX9
-
Wagner, T., Wirth, J., Meyer, J., Zabel, B., Held, M., Zimmer, J., Pasantes, J., Bricarelli, F. D., Keutel, J., Hustert, E., Wolk, U., Tommerup, N., Schempp, W., and Scherer, G. (1994). Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-reglated gene SOX9. Cell 79, 1111-20.
-
(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
Wolk, U.11
Tommerup, N.12
Schempp, W.13
Scherer, G.14
-
71
-
-
0029092140
-
Human H-Y: A male specific histocompatibility antigen derived from the SMCY protein
-
Wang, W., Meadows, L. R., den Haan, J. M. M., Sherman, N. E., Chen, Y., Blokland, E., Shabanowitz, J., Agulnik, A. I., Hendrickson, R. C., Bishop, C. E., Hunt, D. F., Goulmy, E., and Engelhard, V. H. (1995). Human H-Y: a male specific histocompatibility antigen derived from the SMCY protein. Science 269, 1588-90.
-
(1995)
Science
, vol.269
, pp. 1588-1590
-
-
Wang, W.1
Meadows, L.R.2
Den Haan, J.M.M.3
Sherman, N.E.4
Chen, Y.5
Blokland, E.6
Shabanowitz, J.7
Agulnik, A.I.8
Hendrickson, R.C.9
Bishop, C.E.10
Hunt, D.F.11
Goulmy, E.12
Engelhard, V.H.13
-
72
-
-
0024411761
-
A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction
-
Witt, M., and Erickson, R. P. (1989). A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction. Hum. Genet. 82, 271-4.
-
(1989)
Hum. Genet.
, vol.82
, pp. 271-274
-
-
Witt, M.1
Erickson, R.P.2
-
73
-
-
0029147276
-
The molecular genetics of human sex determination
-
Wolf, U. (1995). The molecular genetics of human sex determination. J. Mol. Med. 73, 325-31.
-
(1995)
J. Mol. Med.
, vol.73
, pp. 325-331
-
-
Wolf, U.1
-
74
-
-
0022401559
-
Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome
-
Wolfe, J., Darling, S. M., Erickson, R. P., Craig, L. W., Buckle, V. J., Rigby, P. W. J., Willard, H. F., and Goodfellow, P. N. (1985). Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J. Mol. Biol. 182, 477-85.
-
(1985)
J. Mol. Biol.
, vol.182
, pp. 477-485
-
-
Wolfe, J.1
Darling, S.M.2
Erickson, R.P.3
Craig, L.W.4
Buckle, V.J.5
Rigby, P.W.J.6
Willard, H.F.7
Goodfellow, P.N.8
-
75
-
-
0029842285
-
The human autosomal gene DAZLA: Testis specificity and a candidate for male infertility
-
Yen, P. H., Chai, N. N., and Salido, E. C. (1996). The human autosomal gene DAZLA: testis specificity and a candidate for male infertility. Hum. Mol. Genet. 5, 2013-7.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 2013-2017
-
-
Yen, P.H.1
Chai, N.N.2
Salido, E.C.3
|