-
1
-
-
0023627044
-
Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes
-
Affara NA, Ferguson-Smith MA, Magenis RE, Tolmie JL, Boyd E, Cooke A, Jamieson D, Kwok K, Mitchell M, Snadden L (1987) Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res 15: 7325-7342
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7325-7342
-
-
Affara, N.A.1
Ferguson-Smith, M.A.2
Magenis, R.E.3
Tolmie, J.L.4
Boyd, E.5
Cooke, A.6
Jamieson, D.7
Kwok, K.8
Mitchell, M.9
Snadden, L.10
-
2
-
-
0024802646
-
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
-
Ballabio A, Bardoni B, Carrozzo R, Andna G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuffardi O, Guioli S. Camenno 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
Andna, G.4
Bick, D.5
Campbell, L.6
Hamel, B.7
Ferguson-Smith, M.A.8
Gimelli, G.9
Fraccaro, M.10
Maraschio, P.11
Zuffardi, O.12
Guioli, S.13
Camenno, G.14
-
3
-
-
0025961771
-
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
-
Brown CJ, Ballabio A, Rupert JL, Lafrenière RG, Grompe M, Tonlorenzi R. Willard HF (1991) A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349:38-14
-
(1991)
Nature
, vol.349
, pp. 38-114
-
-
Brown, C.J.1
Ballabio, A.2
Rupert, J.L.3
Lafrenière, R.G.4
Grompe, M.5
Tonlorenzi, R.6
Willard, H.F.7
-
4
-
-
76549210828
-
Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations
-
Ferguson-Smith MA (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
-
5
-
-
0028058986
-
Human haploinsufficiency - One for sorrow. two for joy
-
Fisher E, Scambler P (1994) Human haploinsufficiency - one for sorrow. two for joy. Nature Genet 7:5-7
-
(1994)
Nature Genet
, vol.7
, pp. 5-7
-
-
Fisher, E.1
Scambler, P.2
-
6
-
-
0025633118
-
Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for Turner syndrome
-
Fisher EMC, Beer-Romero P, Brown LG, Ridley A, McNeil JA, Bentley Lawrence J, Willard HF, Bieber FR, 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
-
7
-
-
0022423216
-
Various rat adult tissues express only one major mRNA species from the glyceraldehyde-3-phosphate-dehydrogenase multigenic family
-
Fort P, Piechacyzk M, El Sabrouty S, Dani C, Jeanteur P, Blanchard JM (1985) Various rat adult tissues express only one major mRNA species from the glyceraldehyde-3-phosphate-dehydrogenase multigenic family. Nucleic Acids Res 13:1431-1442
-
(1985)
Nucleic Acids Res
, vol.13
, pp. 1431-1442
-
-
Fort, P.1
Piechacyzk, M.2
El Sabrouty, S.3
Dani, C.4
Jeanteur, P.5
Blanchard, J.M.6
-
8
-
-
0028204150
-
Deletion of Xq and growth deficit: A review
-
Geerkens C, Just W, Vogel W (1994) Deletion of Xq and growth deficit: a review. Am J Med Genet 50:105-113
-
(1994)
Am J Med Genet
, vol.50
, pp. 105-113
-
-
Geerkens, C.1
Just, W.2
Vogel, W.3
-
9
-
-
0029026641
-
The X-chromosomal human biglycan gene BGN is subject to X inactivation but is transcribed like an X-Y homologous gene
-
Geerkens C, Vetter U, Just W, Fedarko NS, Fisher LW, Young MF, Termine J, Gehron Robey P, Wohrle D, Vogel W (1995) The X-chromosomal human biglycan gene BGN is subject to X inactivation but is transcribed like an X-Y homologous gene. Hum Genet 96:44-52
-
(1995)
Hum Genet
, vol.96
, pp. 44-52
-
-
Geerkens, C.1
Vetter, U.2
Just, W.3
Fedarko, N.S.4
Fisher, L.W.5
Young, M.F.6
Termine, J.7
Gehron Robey, P.8
Wohrle, D.9
Vogel, W.10
-
10
-
-
0026008743
-
Cytogenetic and molecular characterization of a small ring chromosome in complex karyotype of a girl with Turner syndrome
-
Guttenbach M, Köhler J. Schmid M (1991) Cytogenetic and molecular characterization of a small ring chromosome in complex karyotype of a girl with Turner syndrome. Hum Genet 87:680-684
-
(1991)
Hum Genet
, vol.87
, pp. 680-684
-
-
Guttenbach, M.1
Köhler, J.2
Schmid, M.3
-
11
-
-
0026531326
-
Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes?
-
Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, Goedde HW (1992) Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 88:288-294
-
(1992)
Hum Genet
, vol.88
, pp. 288-294
-
-
Held, K.R.1
Kerber, S.2
Kaminsky, E.3
Singh, S.4
Goetz, P.5
Seemanova, E.6
Goedde, H.W.7
-
12
-
-
3042984015
-
Have all Turner's mosaicism? State of the art: About investigation in clinical practice
-
Gothenburg, 18-21 May 1995. Excerpta Medica, International Congress Senes 1089, Elsevier, Amsterdam (in press)
-
Held KR, Becker B, Kaminsky E, Kerber S, Löhler J, Goetz P, Seemanova E (1995) Have all Turner's mosaicism? State of the art: about investigation in clinical practice In: 4th International Symposium on Turner Syndrome. Gothenburg, 18-21 May 1995. Excerpta Medica, International Congress Senes 1089, Elsevier, Amsterdam (in press)
-
(1995)
4th International Symposium on Turner Syndrome
-
-
Held, K.R.1
Becker, B.2
Kaminsky, E.3
Kerber, S.4
Löhler, J.5
Goetz, P.6
Seemanova, E.7
-
13
-
-
0026077129
-
Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth
-
Henke A, Wapenaar M, Ommen G-J van, Maraschio P, Camerino G, Rappold G (1991) Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. Am J Hum Genet 49:811-819
-
(1991)
Am J Hum Genet
, vol.49
, pp. 811-819
-
-
Henke, A.1
Wapenaar, M.2
Van Ommen, G.-J.3
Maraschio, P.4
Camerino, G.5
Rappold, G.6
-
14
-
-
0017347991
-
Exclusion of chromosomal mosaicism: Tables of 90%, 95%, and 99% confidence limits and comments on use
-
Hook EB (1977) Exclusion of chromosomal mosaicism: tables of 90%, 95%, and 99% confidence limits and comments on use. Am J Hum Genet 29:94-97
-
(1977)
Am J Hum Genet
, vol.29
, pp. 94-97
-
-
Hook, E.B.1
-
15
-
-
0020634258
-
The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural abnormalities or mosaicism
-
Hook EB, Warburton D (1983) The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural abnormalities or mosaicism. Hum Genet 64:24-27
-
(1983)
Hum Genet
, vol.64
, pp. 24-27
-
-
Hook, E.B.1
Warburton, D.2
-
16
-
-
0026503102
-
Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome
-
Just W, Geerkens G, Held KR, Vogel W (1992) Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome. Hum Genet 89:240-242
-
(1992)
Hum Genet
, vol.89
, pp. 240-242
-
-
Just, W.1
Geerkens, G.2
Held, K.R.3
Vogel, W.4
-
17
-
-
0040262106
-
Structural abnormalities of the human X chromosome and their clinical features
-
Sandberg AA (ed) Liss, New York
-
Kaffe S, Hsu LYF, Hirschhorn K (1983) Structural abnormalities of the human X chromosome and their clinical features. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part B: X chromosome anomalies and their clinical manifestations. Liss, New York, pp 341-358
-
(1983)
Cytogenetics of the Mammalian X Chromosome, Part B: X Chromosome Anomalies and Their Clinical Manifestations
, pp. 341-358
-
-
Kaffe, S.1
Hsu, L.Y.F.2
Hirschhorn, K.3
-
18
-
-
0024566993
-
Exchange of terminal portions of X- And Y-chromosomal short arms in human XY females
-
Levilliers J, Quack B, Weissenbach J. Petit C (1989) Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females. Proc Natl Acad Sci USA 86:2296-2300
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2296-2300
-
-
Levilliers, J.1
Quack, B.2
Weissenbach, J.3
Petit, C.4
-
19
-
-
0242382840
-
Physical and anatomical abnormalities in Turner syndrome
-
Rosenfeld RG. Grumbach MM (eds) Dekker, New York
-
Lippe BM (1988) Physical and anatomical abnormalities in Turner syndrome: In: Rosenfeld RG. Grumbach MM (eds) Turner syndrome. Dekker, New York, pp 183-196
-
(1988)
Turner Syndrome
, pp. 183-196
-
-
Lippe, B.M.1
-
21
-
-
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, 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
-
23
-
-
0028245152
-
Expression level of Rps4 mRNA in 39,X mice and 40,XX mice
-
Omoe K, Endo A (1994) Expression level of Rps4 mRNA in 39,X mice and 40,XX mice. Cytogenet Cell Genet 67:52-54
-
(1994)
Cytogenet Cell Genet
, vol.67
, pp. 52-54
-
-
Omoe, K.1
Endo, A.2
-
24
-
-
0025283641
-
Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female
-
Page DC, Fisher EMC, McGillivray B. Brown LG (1990) Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Nature 346:279-281
-
(1990)
Nature
, vol.346
, pp. 279-281
-
-
Page, D.C.1
Fisher, E.M.C.2
McGillivray, B.3
Brown, L.G.4
-
25
-
-
0021075608
-
Turner syndrome: Spontaneous growth in 150 cases and review of the literature
-
Ranke MB, Pflüger H, Rosendahl W, Stubbe P, Enders H, Bierich JR, Majewski F (1983) Turner syndrome: spontaneous growth in 150 cases and review of the literature. Eur J Pediatr 141:81-88
-
(1983)
Eur J Pediatr
, vol.141
, pp. 81-88
-
-
Ranke, M.B.1
Pflüger, H.2
Rosendahl, W.3
Stubbe, P.4
Enders, H.5
Bierich, J.R.6
Majewski, F.7
-
27
-
-
0025315275
-
The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: A hypothesis
-
Therman E, Susman B (1990) The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 85:175-183
-
(1990)
Hum Genet
, vol.85
, pp. 175-183
-
-
Therman, E.1
Susman, B.2
-
28
-
-
0022423245
-
Isolation and characterization of rat and human glyceraldehyde-3-phosphate-dehydrogenase cDNAs: Genomic complexity and molecular evolution of the gene
-
Tso JY, Kao T-H, Reece KS, Wu R (1985) Isolation and characterization of rat and human glyceraldehyde-3-phosphate-dehydrogenase cDNAs: genomic complexity and molecular evolution of the gene. Nucleic Acids Res 13:2485-2501
-
(1985)
Nucleic Acids Res
, vol.13
, pp. 2485-2501
-
-
Tso, J.Y.1
Kao, T.-H.2
Reece, K.S.3
Wu, R.4
-
29
-
-
0027161001
-
Functional equivalence of human X- And Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome
-
Watanabe M, Zinn AR, Page DC, Nishimoto T (1993) Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome. Nature Genet 4:268-271
-
(1993)
Nature Genet
, vol.4
, pp. 268-271
-
-
Watanabe, M.1
Zinn, A.R.2
Page, D.C.3
Nishimoto, T.4
-
30
-
-
0027375457
-
A 45,X male with an X;Y translocation: Implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata
-
Weil D, Portnoi M-F, Levilliers J, Wang I, Mathieu M, Taillemite J-L, Meier M, Boudailliez B, Petit C (1993) A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. Hum Mol Genet 2:1853-1856
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1853-1856
-
-
Weil, D.1
Portnoi, M.-F.2
Levilliers, J.3
Wang, I.4
Mathieu, M.5
Taillemite, J.-L.6
Meier, M.7
Boudailliez, B.8
Petit, C.9
-
31
-
-
0026342521
-
Inactivation of the Rps4 gene on the mouse X chromosome
-
Zinn AR, Bressler SL, Beer-Romero P, Adler DA, Chapman VM, Page DC, Disteche CM (1991) Inactivation of the Rps4 gene on the mouse X chromosome. Genomics 11:1097-1101
-
(1991)
Genomics
, vol.11
, pp. 1097-1101
-
-
Zinn, A.R.1
Bressler, S.L.2
Beer-Romero, P.3
Adler, D.A.4
Chapman, V.M.5
Page, D.C.6
Disteche, C.M.7
-
32
-
-
0027475040
-
Turner syndrome: The case of the missing sex chromosome
-
Zinn A, Page DC, Fisher EMC (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.1
Page, D.C.2
Fisher, E.M.C.3
-
33
-
-
0028231417
-
Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes
-
Zinn AR, Alagappan RK, Brown LG, Wool I, Page DC (1994) Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes. Mol Cell Biol 14:2485-2492
-
(1994)
Mol Cell Biol
, vol.14
, pp. 2485-2492
-
-
Zinn, A.R.1
Alagappan, R.K.2
Brown, L.G.3
Wool, I.4
Page, D.C.5
-
34
-
-
0020036794
-
The role of Yp in sex determination: New evidence from X/Y translocations
-
Zuffardi O, Maraschio P, Lo Curto F, Müller U, Giarola A, Perotti L (1982) The role of Yp in sex determination: new evidence from X/Y translocations. Am J Med Genet 12:175-184
-
(1982)
Am J Med Genet
, vol.12
, pp. 175-184
-
-
Zuffardi, O.1
Maraschio, P.2
Lo Curto, F.3
Müller, U.4
Giarola, A.5
Perotti, L.6
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