-
1
-
-
0028823237
-
Nested polymerase chain reaction study of 53 cases with Turner's syndrome: Is cytogenetically undetected Y-mosaicism common?
-
1 Binder, G., A. Koch, E. Wajs, M. B. Ranke: Nested Polymerase Chain Reaction Study of 53 Cases with Turner's Syndrome: Is Cytogenetically Undetected Y-Mosaicism Common? J. Clin. Endocrinol. Metab. 80 (1995) 3532-3536
-
(1995)
J. Clin. Endocrinol. Metab.
, vol.80
, pp. 3532-3536
-
-
Binder, G.1
Koch, A.2
Wajs, E.3
Ranke, M.B.4
-
2
-
-
0027452163
-
True hermaphroditism in a 46,XY individual caused by a post-cygotic somatic point mutation in the male gonadal sex-determining locus (SRY): Molecular genetics and histological findings in a sporadic case
-
2 Braun, A., S. Kammerer, H. Cleve, U. Löhrs, H.-P. Schwarz, U. Kuhnle: True hermaphroditism in a 46,XY individual caused by a post-cygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case. Am. J. Hum. Genet. 52 (1993) 578-85
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 578-585
-
-
Braun, A.1
Kammerer, S.2
Cleve, H.3
Löhrs, U.4
Schwarz, H.-P.5
Kuhnle, U.6
-
3
-
-
0024355010
-
Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe
-
3 Cantrell, M. A., J. M. Bicknell, R. A. Pagon, D. C. Page, D. C. Walker, H. M. Saal, A. B. Zinn, C. M. Disteche: Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe. Hum. Genet. 83 (1989) 88-92
-
(1989)
Hum. Genet.
, vol.83
, pp. 88-92
-
-
Cantrell, M.A.1
Bicknell, J.M.2
Pagon, R.A.3
Page, D.C.4
Walker, D.C.5
Saal, H.M.6
Zinn, A.B.7
Disteche, C.M.8
-
4
-
-
0029101535
-
Detection of y mosaicism in patients with Turner's syndrome
-
4 Chu, C. E., J. M. Connor, M. D. C. Donaldson, C. J. H. Kelnar, P. J. Smail, S. A. Greene: Detection of Y mosaicism in patients with Turner's Syndrome. J. Med. Genet. 32 (1995) 578-580
-
(1995)
J. Med. Genet.
, vol.32
, pp. 578-580
-
-
Chu, C.E.1
Connor, J.M.2
Donaldson, M.D.C.3
Kelnar, C.J.H.4
Smail, P.J.5
Greene, S.A.6
-
5
-
-
0025967222
-
An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes
-
5 Cooper, C., J. A. Crolla, C. Laister, D. I. Johnson, P. Cooke: An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes. J. Med. Genet. 28 (1991) 6-9
-
(1991)
J. Med. Genet.
, vol.28
, pp. 6-9
-
-
Cooper, C.1
Crolla, J.A.2
Laister, C.3
Johnson, D.I.4
Cooke, P.5
-
6
-
-
0029034952
-
PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome
-
6 Coto, E., J. F. Toral, M. J. Menedez, I. Hernado, A. Plasencia, A. Benavides, C. Lopez-Larrea: PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner Syndrome. Am. J. Med. Genet. 57 (1995) 393-396
-
(1995)
Am. J. Med. Genet.
, vol.57
, pp. 393-396
-
-
Coto, E.1
Toral, J.F.2
Menedez, M.J.3
Hernado, I.4
Plasencia, A.5
Benavides, A.6
Lopez-Larrea, C.7
-
8
-
-
0029994366
-
Turner syndrome: A study of chromosomal mosaicism
-
8 Fernandez, R., J. Mendez, E. Pasaro: Turner syndrome: a study of chromosomal mosaicism. Hum. Genet. 98 (1996) 29-35
-
(1996)
Hum. Genet.
, vol.98
, pp. 29-35
-
-
Fernandez, R.1
Mendez, J.2
Pasaro, E.3
-
9
-
-
0030991438
-
Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X + mar karyo-type
-
9 Hashimoto, H., H. Muruyama, R. Koshida, N. Okuda, K. Murayama, T. Katsumi, K. Watanabe, T. Sato: Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X + mar karyo-type. Arch. of Dis. in Child. 76 (1997) 268-271
-
(1997)
Arch. of Dis. in Child.
, vol.76
, pp. 268-271
-
-
Hashimoto, H.1
Muruyama, H.2
Koshida, R.3
Okuda, N.4
Murayama, K.5
Katsumi, T.6
Watanabe, K.7
Sato, T.8
-
10
-
-
0026599792
-
Mutational analysis of SRY: Nonsense and missense mutations in XY sex reversal
-
10 Hawkins, J. R., A. Taylor, P. Berta, J. Levilliers, B. Van der Auwera, P. N. Goodfellow: Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum. Genet. 88 (1992) 471-474
-
(1992)
Hum. Genet.
, vol.88
, pp. 471-474
-
-
Hawkins, J.R.1
Taylor, A.2
Berta, P.3
Levilliers, J.4
Van Der Auwera, B.5
Goodfellow, P.N.6
-
11
-
-
0026531326
-
Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes?
-
11 Held, K. R., S. Kerber, E. Kaminsky, S. Singh, P. Goetz, E. Seemanova, H. W. Goedde: Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum. Genet. 88 (1992) 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
-
-
0017347991
-
Exclusion of chromosomal mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use
-
12 Hook, E. B.: Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am. J. Med. Genet. 29 (1977) 94-97
-
(1977)
Am. J. Med. Genet.
, vol.29
, pp. 94-97
-
-
Hook, E.B.1
-
13
-
-
0026608706
-
Survival of fetuses with 45,X: An instructive case and an hypothesis
-
13 Kelly, T. E., Y. E. Ferguson, W. Golden: Survival of Fetuses with 45,X: An Instructive Case and an Hypothesis. Am. J. Med. Genet. 42 (1992) 825-826
-
(1992)
Am. J. Med. Genet.
, vol.42
, pp. 825-826
-
-
Kelly, T.E.1
Ferguson, Y.E.2
Golden, W.3
-
14
-
-
0027196919
-
Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA
-
14 Kocova, M., S. F. Siegel, S. L. Wenger, P. A. Lee, M. Trucco: Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet 342 (1993) 140-143
-
(1993)
Lancet
, vol.342
, pp. 140-143
-
-
Kocova, M.1
Siegel, S.F.2
Wenger, S.L.3
Lee, P.A.4
Trucco, M.5
-
15
-
-
0021994698
-
The importance of surgical evaluation of patients with 'Turner-like' sex chromosomal abnormalities
-
15 Krasna, I. C. H., M. Lee, L. Sciorra, M. Salas, P. Smilow: The Importance of Surgical Evaluation of Patients with 'Turner-Like' Sex Chromosomal Abnormalities. J. Pediat. Surgery 20 (1985) 61-64
-
(1985)
J. Pediat. Surgery
, vol.20
, pp. 61-64
-
-
Krasna, I.C.H.1
Lee, M.2
Sciorra, L.3
Salas, M.4
Smilow, P.5
-
16
-
-
0024973417
-
Avoiding false positives with PCR
-
16 Kwok, S., R. Higuchi: Avoiding false positives with PCR. Nature 339 (1989) 237-238
-
(1989)
Nature
, vol.339
, pp. 237-238
-
-
Kwok, S.1
Higuchi, R.2
-
17
-
-
0029954852
-
Gonadoblastoma in patient with Turner's syndrome
-
17 Lo, K. W. K., S. K. Lam, T. H. Cheung, S. P. Wong, A. Chang, J. H. S. Chow: Gonadoblastoma in Patient with Turner's Syndrome. J. Obstet. Gynaecol. Res. Vol. 22 (1996) 35-41
-
(1996)
J. Obstet. Gynaecol. Res.
, vol.22
, pp. 35-41
-
-
Lo, K.W.K.1
Lam, S.K.2
Cheung, T.H.3
Wong, S.P.4
Chang, A.5
Chow, J.H.S.6
-
18
-
-
0002209083
-
Distribution of sex chromosome complements in 651 patients with Turner's syndrome
-
18 Magenis, R. E., W. R. Breg, K. A. Clark, E. B. Hook, C. G. Palmer, L. M. Pastor, R. L. Summit, D. Van Dyke: Distribution of sex chromosome complements in 651 patients with Turner's Syndrome. Am. J. Med. Genet. 32 (1980) 79A
-
(1980)
Am. J. Med. Genet.
, vol.32
-
-
Magenis, R.E.1
Breg, W.R.2
Clark, K.A.3
Hook, E.B.4
Palmer, C.G.5
Pastor, L.M.6
Summit, R.L.7
Van Dyke, D.8
-
19
-
-
0029135349
-
Enhanced direct amplification of Guthrie card DNA following selective elution of PCR inhibitors
-
19 Makowski, G. S., E. L. Davis, J. Aslanzadeh, S. M. Hopfer: Enhanced direct amplification of Guthrie card DNA following selective elution of PCR inhibitors. NAR 23 (1995) 3788-3789
-
(1995)
NAR
, vol.23
, pp. 3788-3789
-
-
Makowski, G.S.1
Davis, E.L.2
Aslanzadeh, J.3
Hopfer, S.M.4
-
20
-
-
0017257622
-
The age of occurrence of gonadal tumors in intersex patients with a Y chromosome
-
20 Manuel, M., K. P. Katayama, H. W. Jones: The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am. J. Obstet. Gynecol. 124 (1976) 293-300
-
(1976)
Am. J. Obstet. Gynecol.
, vol.124
, pp. 293-300
-
-
Manuel, M.1
Katayama, K.P.2
Jones, H.W.3
-
21
-
-
0026451154
-
Screening for Y-derived sex determining gene sry in patients with Turner syndrome
-
21 Medlej, R., J. M. Lobaccaro, P. Berta, C. Belon, B. Leheup. Y. E. Toublane, J. Weill, C. Chevalier, R. Dumas, C. Sultan: Screening for Y-derived sex determining gene SRY in patients with Turner syndrome. J. Clin. Endocrinol. Metab. 75 (1992) 1289-92
-
(1992)
J. Clin. Endocrinol. Metab.
, vol.75
, pp. 1289-1292
-
-
Medlej, R.1
Lobaccaro, J.M.2
Berta, P.3
Belon, C.4
Leheup, B.5
Toublane, Y.E.6
Weill, J.7
Chevalier, C.8
Dumas, R.9
Sultan, C.10
-
22
-
-
0029021639
-
Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
-
22 Ogata, T., N. Matsuo: Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum. Genet. 95 (1995) 607-629
-
(1995)
Hum. Genet.
, vol.95
, pp. 607-629
-
-
Ogata, T.1
Matsuo, N.2
-
23
-
-
0024744125
-
Y chromosome mosaicism in 45,X Turner syndrome
-
23 Ostrer, H., C. M. Clayton: Y chromosome mosaicism in 45,X Turner Syndrome. Am. J. Med. Genet. 34 (1989) 294-296
-
(1989)
Am. J. Med. Genet.
, vol.34
, pp. 294-296
-
-
Ostrer, H.1
Clayton, C.M.2
-
24
-
-
0023551765
-
Hypothesis: A Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads
-
24 Page, D. C.: Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101 suppl. (1987) 151-155
-
(1987)
Development
, vol.101
, Issue.SUPPL.
, pp. 151-155
-
-
Page, D.C.1
-
25
-
-
0028047265
-
Y chromosome sequences in Turner's syndrome and risk of gonadoblastoma or virilisation
-
25 Page, D. C.: Y chromosome sequences in Turner's syndrome and risk of gonadoblastoma or virilisation. Lancet 343 (1994) 240
-
(1994)
Lancet
, vol.343
, pp. 240
-
-
Page, D.C.1
-
26
-
-
0026659165
-
Minute Y chromosome-derived marker in a child with gonadoblastoma: Cytogenetic and DNA studies
-
26 Petrovic, V., S. Nasioulas, C. W. Chow, L. Voullaire, M. Schmidt, H. Dahl: Minute Y chromosome-derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. J. Med. Genet. 29 (1992) 542-46
-
(1992)
J. Med. Genet.
, vol.29
, pp. 542-546
-
-
Petrovic, V.1
Nasioulas, S.2
Chow, C.W.3
Voullaire, L.4
Schmidt, M.5
Dahl, H.6
-
27
-
-
0022446922
-
Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization
-
27 Pinkel, D., T. Straume, J. W. Gray: Cytogenetic analysis using quantitative, high sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA 83 (1986) 2934-2938
-
(1986)
Proc. Natl. Acad. Sci. USA
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Straume, T.2
Gray, J.W.3
-
28
-
-
0028807452
-
Gonadoblastoma: Molecular definition of the susceptibility region on the Y chromosome
-
28 Tsuchiya, K., R. Reijo, D. C. Page, C. M. Disteche: Gonadoblastoma: Molecular Definition of the Susceptibility Region on the Y Chromosome. Am. J. Hum. Genet. 57 (1995) 1400-1407
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1400-1407
-
-
Tsuchiya, K.1
Reijo, R.2
Page, D.C.3
Disteche, C.M.4
-
29
-
-
0023091256
-
Abnormal sexual differentiation and neoplasia
-
29 Verp, M. S., J. L. Simpson: Abnormal sexual differentiation and neoplasia. Cancer Genet. Cytogenet. 25 (1987) 191-218
-
(1987)
Cancer Genet. Cytogenet.
, vol.25
, pp. 191-218
-
-
Verp, M.S.1
Simpson, J.L.2
-
31
-
-
0026756965
-
The human Y chromosome: A 48-interval map based on naturally occuring deletions
-
31 Vollrath, D., S. Foote, A. Hilton, L. G. Brown, P. Beer-Romero, J. S. Bogan, D. C. Page: The human Y chromosome: a 48-interval map based on naturally occuring deletions. Science 258 (1992) 52-59
-
(1992)
Science
, vol.258
, pp. 52-59
-
-
Vollrath, D.1
Foote, S.2
Hilton, A.3
Brown, L.G.4
Beer-Romero, P.5
Bogan, J.S.6
Page, D.C.7
-
32
-
-
0027467547
-
An improved, nonisotopic method of screening cells from patients with abnormalities of sexual differentiation for Y-chromosomal DNA content
-
32 Witt M., K. Michalczak, A. Latos-Bielenska, J. Jaruzelska, I. Kuczora, M. Lopez: An improved, nonisotopic method of screening cells from patients with abnormalities of sexual differentiation for Y-chromosomal DNA content. J. Med. Genet. 30 (1993) 304-307
-
(1993)
J. Med. Genet.
, vol.30
, pp. 304-307
-
-
Witt, M.1
Michalczak, K.2
Latos-Bielenska, A.3
Jaruzelska, J.4
Kuczora, I.5
Lopez, M.6
-
33
-
-
85038202324
-
Screening of Turner subjects by PCR of occult y chromosomal DNA
-
33 Yarkowitz, J., E. K. Neely, K. Hajdu, N. E. Norton, R. G. Rosenfeld, N. S. Golbus: Screening of Turner subjects by PCR of occult Y chromosomal DNA. Am. J. Hum. Genet. 53 (1993) 1766A
-
(1993)
Am. J. Hum. Genet.
, vol.53
-
-
Yarkowitz, J.1
Neely, E.K.2
Hajdu, K.3
Norton, N.E.4
Rosenfeld, R.G.5
Golbus, N.S.6
-
34
-
-
0027475040
-
Turner syndrome: The case of the missing sex chromosome
-
34 Zinn, A. R., D. C. Page, E. M. C. Fisher: Turner Syndrome: the case of the missing sex chromosome. TIG 9 (1993) 90-93
-
(1993)
TIG
, vol.9
, pp. 90-93
-
-
Zinn, A.R.1
Page, D.C.2
Fisher, E.M.C.3
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