-
2
-
-
0002209083
-
Distribution of sex chromosome complements in 651 patients with Turner's syndrome
-
Magenis R.E., Breg W.R., and Clark K.A. Distribution of sex chromosome complements in 651 patients with Turner's syndrome. Am J Hum Genet 32 (1980) 79A
-
(1980)
Am J Hum Genet
, vol.32
-
-
Magenis, R.E.1
Breg, W.R.2
Clark, K.A.3
-
3
-
-
0021075608
-
Turner syndrome: spontaneous growth in 150 cases and review of the literature
-
Ranke M.B., Pfluger H., Rosendahl W., Stubbe P., Enders H., Bierich J.R., et al. Turner syndrome: spontaneous growth in 150 cases and review of the literature. J Pediat 141 (1983) 81-88
-
(1983)
J Pediat
, vol.141
, pp. 81-88
-
-
Ranke, M.B.1
Pfluger, H.2
Rosendahl, W.3
Stubbe, P.4
Enders, H.5
Bierich, J.R.6
-
4
-
-
0023930140
-
Cytogenetic and molecular analysis of sex-chromosome monosomy
-
Hassold T., Benham F., and Leppert M. Cytogenetic and molecular analysis of sex-chromosome monosomy. Am J Hum Genet 42 (1988) 534-541
-
(1988)
Am J Hum Genet
, vol.42
, pp. 534-541
-
-
Hassold, T.1
Benham, F.2
Leppert, M.3
-
5
-
-
0031428584
-
Turner syndrome: a cytogenetic and molecular study
-
Jacobs P., Dalton P., James R., Mosse K., Power M., Robinson D., et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 61 (1997) 471-483
-
(1997)
Ann Hum Genet
, vol.61
, pp. 471-483
-
-
Jacobs, P.1
Dalton, P.2
James, R.3
Mosse, K.4
Power, M.5
Robinson, D.6
-
6
-
-
0032817336
-
High frequency of tissue-specific mosaicism in Turner syndrome patients
-
Nazarenko S.A., Timoshevsky V.A., and Sukhanova N.N. High frequency of tissue-specific mosaicism in Turner syndrome patients. Clin Genet 56 (1999) 59-65
-
(1999)
Clin Genet
, vol.56
, pp. 59-65
-
-
Nazarenko, S.A.1
Timoshevsky, V.A.2
Sukhanova, N.N.3
-
7
-
-
0032917555
-
Screening of patients with Turner syndrome for "hidden" Y-mosaicism
-
Vlasak I., Plöchl E., Kronberger G., Bergendi E., Rittinger O., Hagemann M., et al. Screening of patients with Turner syndrome for "hidden" Y-mosaicism. Klin Padiatr 211 (1999) 30-34
-
(1999)
Klin Padiatr
, vol.211
, pp. 30-34
-
-
Vlasak, I.1
Plöchl, E.2
Kronberger, G.3
Bergendi, E.4
Rittinger, O.5
Hagemann, M.6
-
8
-
-
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., et al. 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
-
9
-
-
0026451154
-
Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome
-
Medlej R., Lobaccaro J.M., Berta P., Belon C., Leheup B., Toublanc J.E., et al. Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab 75 (1992) 1289-1292
-
(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
Toublanc, J.E.6
-
10
-
-
0029021639
-
Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features
-
Ogata T., and Matsuo N. 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
-
11
-
-
19244381800
-
Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome
-
Patsalis P.C., Hadjimarcou M.I., Velissariou V., Kitsiou-Tzeli S., Zera C., Syrrou M., et al. Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome. Clin Genet 51 (1997) 184-190
-
(1997)
Clin Genet
, vol.51
, pp. 184-190
-
-
Patsalis, P.C.1
Hadjimarcou, M.I.2
Velissariou, V.3
Kitsiou-Tzeli, S.4
Zera, C.5
Syrrou, M.6
-
12
-
-
0032934043
-
A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome
-
Robinson D.O., Dalton P., Jacobs P.A., Mosse K., Power M.M., Skuse D.H., et al. A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet 36 (1999) 279-284
-
(1999)
J Med Genet
, vol.36
, pp. 279-284
-
-
Robinson, D.O.1
Dalton, P.2
Jacobs, P.A.3
Mosse, K.4
Power, M.M.5
Skuse, D.H.6
-
13
-
-
0035184239
-
PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype
-
Cervantes A., Guevara-Yáñez R., López M., Monroy N., Aguinaga M., Valdez H., et al. PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype. Clin Genet 60 (2001) 385-392
-
(2001)
Clin Genet
, vol.60
, pp. 385-392
-
-
Cervantes, A.1
Guevara-Yáñez, R.2
López, M.3
Monroy, N.4
Aguinaga, M.5
Valdez, H.6
-
14
-
-
0028823237
-
Nested polymerase chain reaction study of 53 cases with Turner syndrome: is cytogenetically undetected Y mosaicism common?
-
Binder G., Koch A., Wajs E., and Ranke M.B. Nested polymerase chain reaction study of 53 cases with Turner 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
-
15
-
-
0026575275
-
Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes
-
Lindgren V., Chen C.P., Bryke C.R., Lichter P., Page D.C., and Yang-Feng T.L. Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes. Hum Genet 88 (1992) 393-398
-
(1992)
Hum Genet
, vol.88
, pp. 393-398
-
-
Lindgren, V.1
Chen, C.P.2
Bryke, C.R.3
Lichter, P.4
Page, D.C.5
Yang-Feng, T.L.6
-
16
-
-
0026794388
-
The majority of the marker chromosomes in Japanese patients with stigmata of Turner syndrome are derived from Y chromosomes
-
Nagafuchi S., Tamura T., Nakahori Y., Takano K., Nishi Y., Iwatani N., et al. The majority of the marker chromosomes in Japanese patients with stigmata of Turner syndrome are derived from Y chromosomes. Hum Genet 89 (1992) 590-592
-
(1992)
Hum Genet
, vol.89
, pp. 590-592
-
-
Nagafuchi, S.1
Tamura, T.2
Nakahori, Y.3
Takano, K.4
Nishi, Y.5
Iwatani, N.6
-
17
-
-
33750309135
-
Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma
-
Bianco B., Lipay M.V., Melaragno M.I., Guedes A.D., and Verreschi I.T.N. Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma. J Pediatr Endocrinol Metab 19 (2006) 1113-1117
-
(2006)
J Pediatr Endocrinol Metab
, vol.19
, pp. 1113-1117
-
-
Bianco, B.1
Lipay, M.V.2
Melaragno, M.I.3
Guedes, A.D.4
Verreschi, I.T.N.5
-
18
-
-
0023091256
-
Abnormal sexual differentiation and neoplasia
-
Verp M.S., and Simpson J.L. 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
-
19
-
-
0028807452
-
Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome
-
Tsuchiya K., Reijo R., Page D.C., and Disteche C.M. 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
-
20
-
-
0036467258
-
Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method
-
Nishi M.Y., Domenice S., Medeiros M.A., Mendonca B.B., and Billerbeck A.E. Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method. Am J Med Genet 107 (2002) 299-305
-
(2002)
Am J Med Genet
, vol.107
, pp. 299-305
-
-
Nishi, M.Y.1
Domenice, S.2
Medeiros, M.A.3
Mendonca, B.B.4
Billerbeck, A.E.5
-
22
-
-
0014807623
-
Gonadoblastoma. A review of 74 cases
-
Scully R.E. Gonadoblastoma. A review of 74 cases. Cancer 25 (1970) 1340-1356
-
(1970)
Cancer
, vol.25
, pp. 1340-1356
-
-
Scully, R.E.1
-
23
-
-
0017347991
-
Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use
-
Hook E.B. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 1 (1977) 94-97
-
(1977)
Am J Hum Genet
, vol.1
, pp. 94-97
-
-
Hook, E.B.1
-
24
-
-
0026080111
-
A rapid non-enzymatic method for preparation of HMW DNA from blood for RFLP studies
-
Lahiri D.K., and Numberger Jr. J.I. A rapid non-enzymatic method for preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19 (1991) 5444
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 5444
-
-
Lahiri, D.K.1
Numberger Jr., J.I.2
-
26
-
-
0028806762
-
A simple technique for isolation of DNA suitable for PCR amplification from cytogenetic preparations
-
Nunes M.V., Melo M.B., Costa F.F., and Garcia M.V. A simple technique for isolation of DNA suitable for PCR amplification from cytogenetic preparations. Braz J Genet 18 (1995) 489-490
-
(1995)
Braz J Genet
, vol.18
, pp. 489-490
-
-
Nunes, M.V.1
Melo, M.B.2
Costa, F.F.3
Garcia, M.V.4
-
27
-
-
0033036454
-
Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism
-
Mendes J.R., Strufaldi M.W., Delcelo R., Moisés R.C., Vieira J.G., Kasamatsu T.S., et al. Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism. Clin Endocrinol 50 (1999) 19-26
-
(1999)
Clin Endocrinol
, vol.50
, pp. 19-26
-
-
Mendes, J.R.1
Strufaldi, M.W.2
Delcelo, R.3
Moisés, R.C.4
Vieira, J.G.5
Kasamatsu, T.S.6
-
29
-
-
0032485202
-
Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome
-
López M., Canto P., Aguinaga M., Torres L., Cervantes A., Alfaro G., et al. Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. Am J Med Genet 76 (1998) 120-124
-
(1998)
Am J Med Genet
, vol.76
, pp. 120-124
-
-
López, M.1
Canto, P.2
Aguinaga, M.3
Torres, L.4
Cervantes, A.5
Alfaro, G.6
-
30
-
-
0029034952
-
PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome
-
Coto E., Toral J.F., Menéndez M.J., Hernando I., Plasencia A., Benavides A., et al. 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
Menéndez, M.J.3
Hernando, I.4
Plasencia, A.5
Benavides, A.6
-
31
-
-
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., and Trucco M. 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
-
32
-
-
12944283271
-
Ullrich-Turner syndrome: relevance of searching for Y chromosome fragments
-
Damiani D., Guedes D.R., Fellous M., Barbaux S., McElreavey K., Kalil J., et al. Ullrich-Turner syndrome: relevance of searching for Y chromosome fragments. J Pediatr Endocrinol Metab 12 (1999) 827-831
-
(1999)
J Pediatr Endocrinol Metab
, vol.12
, pp. 827-831
-
-
Damiani, D.1
Guedes, D.R.2
Fellous, M.3
Barbaux, S.4
McElreavey, K.5
Kalil, J.6
-
33
-
-
0034795551
-
Mutation of the double cortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis
-
547-1
-
Kato M., Kanai M., Soma O., Takusa Y., Kimura T., Numakura C., et al. Mutation of the double cortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis. Ann Neurol 50 (2001) 547-1
-
(2001)
Ann Neurol
, vol.50
-
-
Kato, M.1
Kanai, M.2
Soma, O.3
Takusa, Y.4
Kimura, T.5
Numakura, C.6
-
34
-
-
0034650916
-
Hypersecretion of ovarian androgens may be gonadotrophin dependent many years after menopause
-
Lindgren R., Gunnarsson C., Jakobsson A., and Hammar M. Hypersecretion of ovarian androgens may be gonadotrophin dependent many years after menopause. Maturitas 34 (2000) 43-46
-
(2000)
Maturitas
, vol.34
, pp. 43-46
-
-
Lindgren, R.1
Gunnarsson, C.2
Jakobsson, A.3
Hammar, M.4
-
35
-
-
0036224170
-
Postmenopausal hyperthecosis: functional dysregulation of androgenesis in climacteric ovary
-
Krug E., and Berga S.L. Postmenopausal hyperthecosis: functional dysregulation of androgenesis in climacteric ovary. Obstet Gynecol 99 (2002) 893-897
-
(2002)
Obstet Gynecol
, vol.99
, pp. 893-897
-
-
Krug, E.1
Berga, S.L.2
|