-
1
-
-
0028823237
-
Nested polymerase chain reaction study of 53 cases with Turner's syndrome: Is cytogenetically undetected Y mosaicism common?
-
BINDER, G., KOCH, A., WAJS, E. & RANKE, B. (1995). Nested polymerase chain reaction study of 53 cases with Turner's syndrome: Is cytogenetically undetected Y mosaicism common? J. Clin. Endocrinl. Metab. 80, 3532-3536.
-
(1995)
J. Clin. Endocrinl. Metab.
, vol.80
, pp. 3532-3536
-
-
Binder, G.1
Koch, A.2
Wajs, E.3
Ranke, B.4
-
2
-
-
0007516677
-
Sex chromosome abnormalities
-
(eds A. E. H. Emery & D. L. Rimeoin), Edinburgh: Churchill Livingstone
-
CHAPELLE, A. DE LA (1983). Sex chromosome abnormalities. In Principles and practice of medical genetics (eds A. E. H. Emery & D. L. Rimeoin), pp. 193-215. Edinburgh: Churchill Livingstone.
-
(1983)
Principles and Practice of Medical Genetics
, pp. 193-215
-
-
De La Chapelle, A.1
-
3
-
-
0141864029
-
Sex chromosome abnormalities
-
(eds A. E. H. Emery & D. L. Rimeoin), Edinburgh: Churchill Livingstone
-
CHAPELLE, A. DE LA (1990). Sex chromosome abnormalities. In Principles and practice of medical genetics (eds A. E. H. Emery & D. L. Rimeoin), pp. 273-299. Edinburgh: Churchill Livingstone.
-
(1990)
Principles and Practice of Medical Genetics
, pp. 273-299
-
-
De La Chapelle, A.1
-
4
-
-
0029101535
-
Detection of Y mosaicism in patients with Turner's syndrome
-
CHU, C. E. & CONNOR, J. M. (1995). Detection of Y mosaicism in patients with Turner's syndrome. J. Med. Genet. 32, 578-580.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 578-580
-
-
Chu, C.E.1
Connor, J.M.2
-
5
-
-
0024442771
-
Molecular genetics of Turner's syndrome
-
CONNOR, J. M. & LOUGHLIN, S. A. R. (1989). Molecular genetics of Turner's syndrome. Acta Paed. Scand. 356, 77-80.
-
(1989)
Acta Paed. Scand.
, vol.356
, pp. 77-80
-
-
Connor, J.M.1
Loughlin, S.A.R.2
-
6
-
-
0029034952
-
PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome
-
COTO, E., TORAL, J. F., MENENDEZ, M. J., HERNANDO, I., PLASENCIA, A., BENAVIDES, A. & LOPEZ-LARREA, C. (1995). PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome. Am. J. Med. Genet. 57, 393-396.
-
(1995)
Am. J. Med. Genet.
, vol.57
, pp. 393-396
-
-
Coto, E.1
Toral, J.F.2
Menendez, M.J.3
Hernando, I.4
Plasencia, A.5
Benavides, A.6
Lopez-Larrea, C.7
-
7
-
-
0026659166
-
Molecular diagnosis of Turner's syndrome
-
GIQUEL, C., CABROL, S., SCHNEID, F. & LE BOUC, Y. (1992). Molecular diagnosis of Turner's syndrome. J. Med. Genet. 29, 547-51.
-
(1992)
J. Med. Genet.
, vol.29
, pp. 547-551
-
-
Giquel, C.1
Cabrol, S.2
Schneid, F.3
Le Bouc, Y.4
-
8
-
-
0022395534
-
Determination of the parental origin of sex-chromosome monosomy using restriction fragment length polymorphisms
-
HASSOLD, T., KUMLIN, K., TAKAESU, N. & LEPPERT, M. (1985). Determination of the parental origin of sex-chromosome monosomy using restriction fragment length polymorphisms. Am. J. Hum. Genet. 37, 965-972.
-
(1985)
Am. J. Hum. Genet.
, vol.37
, pp. 965-972
-
-
Hassold, T.1
Kumlin, K.2
Takaesu, N.3
Leppert, M.4
-
9
-
-
0023930140
-
Cytogenetic and molecular analysis of sex-chromosome monosomy
-
HASSOLD, T., BENHAM, F. & LEPPERT, M. (1988). Cytogenetic and molecular analysis of sex-chromosome monosomy. Am. J. Hum. Genet. 42, 965-972.
-
(1988)
Am. J. Hum. Genet.
, vol.42
, pp. 965-972
-
-
Hassold, T.1
Benham, F.2
Leppert, M.3
-
10
-
-
0026531326
-
Mosaicism in 45,X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes?
-
HELD, K. R., KERBER, S., KAMINSKY, E., SINGH, S., GOETZ, P., SEEMANOVA, E. & GOEDDE H. W. (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
-
11
-
-
0017347991
-
Exclusion of chromosomal mosaicism: Tables of 90%, 95%, and 99% confidence limits and comments on use
-
HOOK, E. B. (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
-
12
-
-
0020634258
-
The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism
-
HOOK, E. B. & WARBURTON, D. (1983). The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum. Genet. 64, 24-27.
-
(1983)
Hum. Genet.
, vol.64
, pp. 24-27
-
-
Hook, E.B.1
Warburton, D.2
-
13
-
-
0025258480
-
A human XY female with a frameshift mutation in SRY, a candidate testis determining gene
-
JAGER, R. J., ANVRET, M., HALL, K. & SCHERER, G. (1990). A human XY female with a frameshift mutation in SRY, a candidate testis determining gene. Nature 348, 452-454.
-
(1990)
Nature
, vol.348
, pp. 452-454
-
-
Jager, R.J.1
Anvret, M.2
Hall, K.3
Scherer, G.4
-
14
-
-
0027196919
-
Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA
-
KOCOVA, M., SIEGEL, S. F., WENGER, S. L., LEE, P. A. & TRUCCO, M. (1993). Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet 342, 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
-
-
0026080111
-
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
-
LAHIRI, D. K. & NURNBERGER, J. I. Jr. (1991). A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl. Acid Res. 19, 5444.
-
(1991)
Nucl. Acid Res.
, vol.19
, pp. 5444
-
-
Lahiri, D.K.1
Nurnberger J.I., Jr.2
-
16
-
-
0002209083
-
Distribution of sex chromosome complement in 651 patients with Turner's syndrome
-
MAGENIS, R. E., BREG, W. R., CLARK, K. A., HOOK, E. B., PALMER, C. G., PASZTOR, L. M., SUMMITT, R. L. & VANDYKE, D. (1980). Distribution of sex chromosome complement in 651 patients with Turner's syndrome. Am. J. Hum. Genet. 32, 79.
-
(1980)
Am. J. Hum. Genet.
, vol.32
, pp. 79
-
-
Magenis, R.E.1
Breg, W.R.2
Clark, K.A.3
Hook, E.B.4
Palmer, C.G.5
Pasztor, L.M.6
Summitt, R.L.7
Vandyke, D.8
-
17
-
-
0026451154
-
Screening for the Y-derived sex determining gene SRY in 40 patients with Turner syndrome
-
MEDLEIJ, R., LOBACARRDO, J. M., BERTA, P., BELON, C., LEHEUP, B., TOUBLANC, J. E., WEILL, J., CHEVALIER, C., DUMAS, R. & SULTAN, C. (1992). Screening for the Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J. Clin. Endocrinol. Metab. 75, 1289-1292.
-
(1992)
J. Clin. Endocrinol. Metab.
, vol.75
, pp. 1289-1292
-
-
Medleij, R.1
Lobacarrdo, J.M.2
Berta, P.3
Belon, C.4
Leheup, B.5
Toublanc, J.E.6
Weill, J.7
Chevalier, C.8
Dumas, R.9
Sultan, C.10
-
18
-
-
0345539535
-
Detection of Y-chromosome sequences by PCR in patients with Turner syndrome
-
MENDES, J., LOUZADA, M. W., MOYSES, R., ANDRADE, J. & VERRESCHI, I. T. N. (1996). Detection of Y-chromosome sequences by PCR in patients with Turner syndrome. In The Tenth International Congress of Endocrinology.
-
(1996)
The Tenth International Congress of Endocrinology
-
-
Mendes, J.1
Louzada, M.W.2
Moyses, R.3
Andrade, J.4
Verreschi, I.T.N.5
-
19
-
-
0024744125
-
Y chromosome mosaicism in 45,X Turner syndrome
-
OSTRER, H. & CLAYTON, C. M. (1989). Y chromosome mosaicism in 45,X Turner syndrome. Am. J. Med. Genet. 34, 294-296.
-
(1989)
Am. J. Med. Genet.
, vol.34
, pp. 294-296
-
-
Ostrer, H.1
Clayton, C.M.2
-
20
-
-
0023551765
-
Hypothesis: A Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads
-
PAGE, D. C. (1987). Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101, 151-155.
-
(1987)
Development
, vol.101
, pp. 151-155
-
-
Page, D.C.1
-
21
-
-
0022446922
-
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization
-
PINKEL, D., STRAUME, T. & GRAY, J. W. (1986). Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA. 83, 2934-2938.
-
(1986)
Proc. Natl. Acad. Sci. USA
, vol.83
, pp. 2934-2938
-
-
Pinkel, D.1
Straume, T.2
Gray, J.W.3
-
22
-
-
0015246254
-
A rapid banding technique for human chromosomes
-
SEABRIGHT, M. (1971). A rapid banding technique for human chromosomes. Lancet II, 971-972.
-
(1971)
Lancet
, vol.2
, pp. 971-972
-
-
Seabright, M.1
-
23
-
-
0028807452
-
Gonadoblastoma: Molecular definition of the susceptibility region on the Y chromosome
-
TSUCHIYA, K., REIJO, R., PAGE, D. C. & DISTECHE, C. M. (1995). Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am. J. Hum. Genet. 57, 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
-
24
-
-
0022530702
-
A deletion map of the human Y chromosome based on DNA hybridization
-
VERGNAUD, G., PAGE, D. C., SIMMLER, M. C., BROWN, L., ROUYE, F., NOEL, B., BOTSTEIN, D., CHAPELLE, A. DE LA & WEISSENBACH, J. (1986). A deletion map of the human Y chromosome based on DNA hybridization. Am. Hum. Genet. 38, 109-124.
-
(1986)
Am. Hum. Genet.
, vol.38
, pp. 109-124
-
-
Vergnaud, G.1
Page, D.C.2
Simmler, M.C.3
Brown, L.4
Rouye, F.5
Noel, B.6
Botstein, D.7
De La Chapelle, A.8
Weissenbach, J.9
-
25
-
-
0023091256
-
Abnormal sexual differentiation and neoplasia
-
VERP, M. S. & SIMPSON, J. L. (1987). Abnormal sexual differentiation and neoplasia. Cancer Genet. Cytogenetics 25, 191-218.
-
(1987)
Cancer Genet. Cytogenetics
, vol.25
, pp. 191-218
-
-
Verp, M.S.1
Simpson, J.L.2
-
26
-
-
0026756965
-
The human Y chromosome: A 43-interval map based on naturally occurring deletions
-
VOLLRATH, D., FOOTE, S., HILTON, A., BROWN, L. G., BEER-ROMERO, P., BOGAN, J. S. & PAGE, D. C. (1992). The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 258, 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
-
27
-
-
0022401559
-
Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome
-
WOLF, J., DARLING, S. M., ERICKSON, R. P., CRAIG, I. W., BUCKLE, V. J., RIGBY, P. W. J., WILLARD, H. F. & GOODFELLOW, P. N. (1985). Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J. Mol. Biol. 182, 477-485.
-
(1985)
J. Mol. Biol.
, vol.182
, pp. 477-485
-
-
Wolf, J.1
Darling, S.M.2
Erickson, R.P.3
Craig, I.W.4
Buckle, V.J.5
Rigby, P.W.J.6
Willard, H.F.7
Goodfellow, P.N.8
-
28
-
-
0027475040
-
Turner syndrome: The case of the missing sex chromosome
-
ZINN, A. R., PAGE, D. C. & FISHER, 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, M.C.3
|