-
2
-
-
49749223893
-
A sex- Chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)
-
Ford, C.E., Jones, K.W., Polani, P.E., deAlmeida, J.C., and Briggs, J.H. (1959) A sex- chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet i, 711-713.
-
(1959)
Lancet
, vol.1
, pp. 711-713
-
-
Ford, C.E.1
Jones, K.W.2
Polani, P.E.3
DeAlmeida, J.C.4
Briggs, J.H.5
-
3
-
-
76549210828
-
Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations
-
Ferguson-Smith, M.A. (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2, 142-155.
-
(1965)
J. Med. Genet.
, vol.2
, pp. 142-155
-
-
Ferguson-Smith, M.A.1
-
4
-
-
0027475040
-
Turner syndrome: The case of the missing sex chromosome
-
Zinn, A.R., Page, D.C., and Fisher, E.M.C. (1993) Turner syndrome: the case of the missing sex chromosome. Trends Genet. 9, 90-93.
-
(1993)
Trends Genet.
, vol.9
, pp. 90-93
-
-
Zinn, A.R.1
Page, D.C.2
Fisher, E.M.C.3
-
5
-
-
0025633118
-
Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome
-
Fisher, E.M.C., Beer-Romero, P., Brown, L.G., Ridley, A., McNeil, J.A., Bentley Lawrence, J., Willard, H.F., Bieber, F.R., and Page, D. (1990) Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. Cell 63, 1205-1218.
-
(1990)
Cell
, vol.63
, pp. 1205-1218
-
-
Fisher, E.M.C.1
Beer-Romero, P.2
Brown, L.G.3
Ridley, A.4
McNeil, J.A.5
Bentley Lawrence, J.6
Willard, H.F.7
Bieber, F.R.8
Page, D.9
-
6
-
-
0030048226
-
Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X
-
Geerkens, C., Just, W., Held, K.R., and Vogel, W. (1996) Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X. Hum. Genet. 97, 39-44.
-
(1996)
Hum. Genet.
, vol.97
, pp. 39-44
-
-
Geerkens, C.1
Just, W.2
Held, K.R.3
Vogel, W.4
-
7
-
-
0028833226
-
Escape from X inactivation in human and mouse
-
Disteche, C.M. (1995) Escape from X inactivation in human and mouse. Trends Genet. 11, 17-22.
-
(1995)
Trends Genet.
, vol.11
, pp. 17-22
-
-
Disteche, C.M.1
-
8
-
-
0027437257
-
The pseudoautosomal regions of the human sex chromosomes
-
Rappold, G.A. (1993) The pseudoautosomal regions of the human sex chromosomes. Hum. Genet. 92, 315-324.
-
(1993)
Hum. Genet.
, vol.92
, pp. 315-324
-
-
Rappold, G.A.1
-
9
-
-
0026651696
-
Short stature in a girl with a terminal Xp deletion distal to DXYS15: Localisation of a growth gene(s) in the pseudoautosomal region
-
Ogata, T., Goodfellow, P., Petit, C., Aya, M., and Matsuo, N. (1992) Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. J. Med. Genet. 29, 455-459.
-
(1992)
J. Med. Genet.
, vol.29
, pp. 455-459
-
-
Ogata, T.1
Goodfellow, P.2
Petit, C.3
Aya, M.4
Matsuo, N.5
-
10
-
-
0029126650
-
Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: Further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s)
-
Ogata, T, Yoshizawa, A., Muroya, K., Matsuo, N., Fukushima, Y., Rappold, G., and Yokoya, S. (1995) Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). J. Med. Genet. 32, 831-834.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 831-834
-
-
Ogata, T.1
Yoshizawa, A.2
Muroya, K.3
Matsuo, N.4
Fukushima, Y.5
Rappold, G.6
Yokoya, S.7
-
11
-
-
0024802646
-
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
-
Ballabio, A., Bardoni, B., Carrozzo, R., Andria, G., Bick, D., Campbell, L., Hamel, B., Ferguson-Smith, M.A., Ginelli, G., Fraccano, M., Maraschio, P., Zuffardi, O., Guioli, S., and Cameroni, G. (1989). Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc. Natl. Acad. Sci. USA 86, 10001-10005.
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 10001-10005
-
-
Ballabio, A.1
Bardoni, B.2
Carrozzo, R.3
Andria, G.4
Bick, D.5
Campbell, L.6
Hamel, B.7
Ferguson-Smith, M.A.8
Ginelli, G.9
Fraccano, M.10
Maraschio, P.11
Zuffardi, O.12
Guioli, S.13
Cameroni, G.14
-
12
-
-
0028352313
-
Isolation of genes from complex sources of mammalian genomic DNA using exon amplification
-
Church, D.M., Stotler, C.J., Rutter, J.L., Murrell, J.R., Troffater, J.A., and Buckler, A.J. (1994) Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet. 6, 98-105.
-
(1994)
Nature Genet.
, vol.6
, pp. 98-105
-
-
Church, D.M.1
Stotler, C.J.2
Rutter, J.L.3
Murrell, J.R.4
Troffater, J.A.5
Buckler, A.J.6
-
13
-
-
0002758687
-
Marathon cDNA amplification: A new method for cloning full-length cDNAs
-
Chenchik, A., Moqadam, F., and Siebert, P. (1995) Marathon cDNA amplification: a new method for cloning full-length cDNAs. CLONTECHniques X, 5-8.
-
(1995)
CLONTECHniques
, vol.10
, pp. 5-8
-
-
Chenchik, A.1
Moqadam, F.2
Siebert, P.3
-
14
-
-
0027408247
-
Identification of a ten-amino acid proline-rich SH3 binding site
-
Ruibao, R., Mayer, B.J., Cicchetti, P., and Baltimore, D. (1993) Identification of a ten-amino acid proline-rich SH3 binding site. Science 259, 1157-1161.
-
(1993)
Science
, vol.259
, pp. 1157-1161
-
-
Ruibao, R.1
Mayer, B.J.2
Cicchetti, P.3
Baltimore, D.4
-
15
-
-
0027362241
-
The GTPase dynamin binds to and is activated by a subset of SH3 domains
-
Gout, I., Dhand, R., Hiles, I.D., Fry, M.J., Panayotou, G., Das, P., Truong, O., Totty, N.F., Hsuan, J., Booker, G.W., Campbell, I.D. and Waterfield, M.D. (1993) The GTPase dynamin binds to and is activated by a subset of SH3 domains. Cell 75, 25-36.
-
(1993)
Cell
, vol.75
, pp. 25-36
-
-
Gout, I.1
Dhand, R.2
Hiles, I.D.3
Fry, M.J.4
Panayotou, G.5
Das, P.6
Truong, O.7
Totty, N.F.8
Hsuan, J.9
Booker, G.W.10
Campbell, I.D.11
Waterfield, M.D.12
-
16
-
-
0028862024
-
Characterization of a YAC contig spanning the pseudoautosomal region
-
Reid, K., Mertz, A., Nagajara, R.,Trusgnich, M., Riley, J.H., Anand, R., Lehrach, H., Page, D.C., Ellison, J. W., and Rappold, G. (1995) Characterization of a YAC contig spanning the pseudoautosomal region. Genomics 29, 787-792.
-
(1995)
Genomics
, vol.29
, pp. 787-792
-
-
Reid, K.1
Mertz, A.2
Nagajara, R.3
Trusgnich, M.4
Riley, J.H.5
Anand, R.6
Lehrach, H.7
Page, D.C.8
Ellison, J.W.9
Rappold, G.10
-
17
-
-
84990622726
-
Bone marrow osteogenic stem cells: In vitro cultivation and transplantation in diffusion chambers
-
Friedenstein, A.J., Chailakhayan, R.K., and Gerasimov, U.V. (1987) Bone marrow osteogenic stem cells: in vitro cultivation and transplantation in diffusion chambers. Cell Tissue Kinet. 20, 263-272.
-
(1987)
Cell Tissue Kinet.
, vol.20
, pp. 263-272
-
-
Friedenstein, A.J.1
Chailakhayan, R.K.2
Gerasimov, U.V.3
-
19
-
-
0029744104
-
Cloning and characterization of four murine homeobox genes
-
Rovescalli, A.C. Asoh, S., and Nirenberg, M. (1996) Cloning and characterization of four murine homeobox genes. Proc. Natl. Acad. Sci. USA 93, 10691-10696.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 10691-10696
-
-
Rovescalli, A.C.1
Asoh, S.2
Nirenberg, M.3
-
20
-
-
0029678404
-
Rapid evolution of human pseudoautosomal genes and their mouse homologs
-
Ellison, J.W., Li, X., Francke, U., and Shapiro, L.J. (1996) Rapid evolution of human pseudoautosomal genes and their mouse homologs. Mamm. Genome 7, 25-30.
-
(1996)
Mamm. Genome
, vol.7
, pp. 25-30
-
-
Ellison, J.W.1
Li, X.2
Francke, U.3
Shapiro, L.J.4
-
21
-
-
0028960271
-
The murine interleukin-3 receptor a subunit gene: Chromosomal localization, genomic structure, and promoter function
-
Miyajima, I., Levitt, L., Hara, T., Bedell, M.A., Copeland, N.G., Jenkins, N.A., and Miyajima, A. (1995) The murine interleukin-3 receptor a subunit gene: chromosomal localization, genomic structure, and promoter function. Blood 85, 1246-1253.
-
(1995)
Blood
, vol.85
, pp. 1246-1253
-
-
Miyajima, I.1
Levitt, L.2
Hara, T.3
Bedell, M.A.4
Copeland, N.G.5
Jenkins, N.A.6
Miyajima, A.7
-
22
-
-
0026907357
-
The human pseudoautosomal GM-CSF receptor alpha subunit gene is autosomal in mouse
-
Disteche, C.M., Brannon, C.I., Larsen, A., Adler, D., Schorderet, D.F., Gearing, D., Copeland, N.G., Jenkins, N.A., and Park, L.S. (1992) The human pseudoautosomal GM-CSF receptor alpha subunit gene is autosomal in mouse. Nature Genet. 1, 333-336.
-
(1992)
Nature Genet.
, vol.1
, pp. 333-336
-
-
Disteche, C.M.1
Brannon, C.I.2
Larsen, A.3
Adler, D.4
Schorderet, D.F.5
Gearing, D.6
Copeland, N.G.7
Jenkins, N.A.8
Park, L.S.9
-
23
-
-
0028430196
-
Maps from two interspecific backcross DNA panels available as a community genetic mapping resource
-
Rowe, L.B., Nadeau, J.H., Turner, R., Frankel, W.N., Letts, V.A., Eppig, J.T., Ko, M.S.H., Thurston, S.J., and Birkenmeier, E.H. (1994) Maps from two interspecific backcross DNA panels available as a community genetic mapping resource. Mamm. Genome 5, 252-274.
-
(1994)
Mamm. Genome
, vol.5
, pp. 252-274
-
-
Rowe, L.B.1
Nadeau, J.H.2
Turner, R.3
Frankel, W.N.4
Letts, V.A.5
Eppig, J.T.6
Ko, M.S.H.7
Thurston, S.J.8
Birkenmeier, E.H.9
-
24
-
-
0021180649
-
Inherited chondrodysplasia punctala due to a deletion of the terminal short arm of the X chromosome
-
Curry, C.J., Magenis, R.E., Brown, M., Lanman, J.T. Jr., Tsai, J., O'Lague, P., Goodfellow, P., Mohandas, T., Bergner, E.A., and Shapiro, L.J. (1984) Inherited chondrodysplasia punctala due to a deletion of the terminal short arm of the X chromosome. N. Engl. J. Med. 311, 1010-1015.
-
(1984)
N. Engl. J. Med.
, vol.311
, pp. 1010-1015
-
-
Curry, C.J.1
Magenis, R.E.2
Brown, M.3
Lanman Jr., J.T.4
Tsai, J.5
O'Lague, P.6
Goodfellow, P.7
Mohandas, T.8
Bergner, E.A.9
Shapiro, L.J.10
-
25
-
-
0014816479
-
X-chromosome inactivation and the Xg locus
-
Fialkow, P.J. (1970) X-chromosome inactivation and the Xg locus. Am. J. Hum. Genet. 22, 460-463.
-
(1970)
Am. J. Hum. Genet.
, vol.22
, pp. 460-463
-
-
Fialkow, P.J.1
-
26
-
-
0021163135
-
The cell surface antigen locus, MIC2X, escapes X-inactivation
-
Goodfellow, P., Pym, B., Mohandas, T., and Shapiro, L.J. (1984) The cell surface antigen locus, MIC2X, escapes X-inactivation. Am. J. Hum. Genet. 36, 777-782.
-
(1984)
Am. J. Hum. Genet.
, vol.36
, pp. 777-782
-
-
Goodfellow, P.1
Pym, B.2
Mohandas, T.3
Shapiro, L.J.4
-
27
-
-
0026640843
-
Directed isolation of human genes that escape X inactivation
-
Ellison, J., Passage, M., Yu, L.-C., Yen, P., and Shapiro, L. (1992) Directed isolation of human genes that escape X inactivation. Somat. Cell Mol. Genet. 18, 259-268.
-
(1992)
Somat. Cell Mol. Genet.
, vol.18
, pp. 259-268
-
-
Ellison, J.1
Passage, M.2
Yu, L.-C.3
Yen, P.4
Shapiro, L.5
-
28
-
-
0027509067
-
A human pseudoautosomal gene, ADP/ATP translocase, escapes X inactivation whereas a homologue on Xq is subject to X inactivation
-
Schillel, K., Weiss, B., Wohrle, D., and Rappold, G. (1993) A human pseudoautosomal gene, ADP/ATP translocase, escapes X inactivation whereas a homologue on Xq is subject to X inactivation. Nature Genet. 3, 82-87.
-
(1993)
Nature Genet.
, vol.3
, pp. 82-87
-
-
Schillel, K.1
Weiss, B.2
Wohrle, D.3
Rappold, G.4
-
29
-
-
0028084338
-
Myc-Max-Mad: A transcription factor network contolling cell cycle progression, differentiation and death
-
Amati, B., and Land, H. (1994) Myc-Max-Mad: a transcription factor network contolling cell cycle progression, differentiation and death. Curr. Opin. Genet. Dev. 4, 102-108.
-
(1994)
Curr. Opin. Genet. Dev.
, vol.4
, pp. 102-108
-
-
Amati, B.1
Land, H.2
-
30
-
-
0026786276
-
Deadpan, an essential pan-neural gene encoding an HLH protein, acts as a denominator in Drosophila sex determination
-
Younger-Shepherd, S., Vaessin, H., Bier, E., Jan, L.Y., and Jan, Y.H. (1992) deadpan, an essential pan-neural gene encoding an HLH protein, acts as a denominator in Drosophila sex determination. Cell 70, 911-922.
-
(1992)
Cell
, vol.70
, pp. 911-922
-
-
Younger-Shepherd, S.1
Vaessin, H.2
Bier, E.3
Jan, L.Y.4
Jan, Y.H.5
-
31
-
-
0028895055
-
Mouse Otx2 functions in the formation and patterning of rostral head
-
Matsuo, I., Kuratani, S., Kimura, C., Takeda, N., and Aizawa, S. (1995) Mouse Otx2 functions in the formation and patterning of rostral head. Genes Dev. 9, 2646-2658.
-
(1995)
Genes Dev.
, vol.9
, pp. 2646-2658
-
-
Matsuo, I.1
Kuratani, S.2
Kimura, C.3
Takeda, N.4
Aizawa, S.5
-
33
-
-
0027302189
-
A paternally imprinted X chromosome retards the development of the early mouse embryo
-
Thornhill, A.R., and Burgoyne, P.S. (1993) A paternally imprinted X chromosome retards the development of the early mouse embryo. Development 118, 171-174.
-
(1993)
Development
, vol.118
, pp. 171-174
-
-
Thornhill, A.R.1
Burgoyne, P.S.2
-
34
-
-
10244220999
-
Growth requirements of bone marrow stromal fibroblast colony formation in vitro
-
Kuznetsov, S.A. and Gehron Robey, P. (1996) Growth requirements of bone marrow stromal fibroblast colony formation in vitro. Calcif Tissue Int. 59, 265-270.
-
(1996)
Calcif Tissue Int.
, vol.59
, pp. 265-270
-
-
Kuznetsov, S.A.1
Gehron Robey, P.2
-
35
-
-
0026509591
-
Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene
-
Carrozzo, R. , Ellison, J., Yen, P., Taillon-Miller, P., Brownstein, B.H., Ballabio, A., and Shapiro, L.J. (1992). Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene. Genomics 12, 7-12.
-
(1992)
Genomics
, vol.12
, pp. 7-12
-
-
Carrozzo, R.1
Ellison, J.2
Yen, P.3
Taillon-Miller, P.4
Brownstein, B.H.5
Ballabio, A.6
Shapiro, L.J.7
-
36
-
-
0027014298
-
Structure and expression of the human pseudoautosomal gene XE7
-
Ellison, J., Ramos, C., Yen, P., and Shapiro, L. (1992) Structure and expression of the human pseudoautosomal gene XE7. Hum. Mol. Genet. 1, 691-696.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 691-696
-
-
Ellison, J.1
Ramos, C.2
Yen, P.3
Shapiro, L.4
-
37
-
-
0025291645
-
X chromosome inactivation of the human TIMP gene
-
Brown, C.J., Flenniken, A.M., Williams, B.R.G., and Willard, H.F. (1990) X chromosome inactivation of the human TIMP gene. Nucleic Acids Res. 18, 4191-4195.
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 4191-4195
-
-
Brown, C.J.1
Flenniken, A.M.2
Williams, B.R.G.3
Willard, H.F.4
|