-
1
-
-
0000519945
-
Malformation syndrome in man associated with triploidy (69 chromosomes)
-
Böök JA, Santesson B 1960 Malformation syndrome in man associated with triploidy (69 chromosomes) Lancet I:858-859
-
(1960)
Lancet
, vol.1
, pp. 858-859
-
-
Böök, J.A.1
Santesson, B.2
-
2
-
-
0027313046
-
Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy
-
Muller U, Weber J, Berry P, Kupke KG 1993 Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidy. J Med Genet 30:597-600
-
(1993)
J Med Genet
, vol.30
, pp. 597-600
-
-
Muller, U.1
Weber, J.2
Berry, P.3
Kupke, K.G.4
-
3
-
-
0036872382
-
Diploid/triploid mosaicism in dimorphic patients
-
Van de Laar I, Rabelink G, Hochstenbach R, Tuerlings J, Hoogeboom J, Giltay J 2002 Diploid/triploid mosaicism in dimorphic patients. Clin Genet 62:376-382
-
(2002)
Clin Genet
, vol.62
, pp. 376-382
-
-
Van de Laar, I.1
Rabelink, G.2
Hochstenbach, R.3
Tuerlings, J.4
Hoogeboom, J.5
Giltay, J.6
-
4
-
-
0025859036
-
Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia
-
Wulfsberg EA, Wassel WC, Polo CA 1991 Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia. Clin Genet 39:370-375
-
(1991)
Clin Genet
, vol.39
, pp. 370-375
-
-
Wulfsberg, E.A.1
Wassel, W.C.2
Polo, C.A.3
-
5
-
-
0028075119
-
Diploid/triploid mosaicism: Further delineation of the phenotype
-
Carakushansky G, Teich E, Ribeiro MG, Horowitz DD, Pellegrini S 1994 Diploid/triploid mosaicism: further delineation of the phenotype. Am J Med Genet 52:399-401
-
(1994)
Am J Med Genet
, vol.52
, pp. 399-401
-
-
Carakushansky, G.1
Teich, E.2
Ribeiro, M.G.3
Horowitz, D.D.4
Pellegrini, S.5
-
6
-
-
0027372309
-
46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty
-
Jarvela IE, Salo MK, Santavuori P, Salonen RK 1993 46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty. J Med Genet 30:966-967
-
(1993)
J Med Genet
, vol.30
, pp. 966-967
-
-
Jarvela, I.E.1
Salo, M.K.2
Santavuori, P.3
Salonen, R.K.4
-
8
-
-
0042131727
-
Failure of prenatal diagnosis of diploid-triploid mosaicism after amniocentesis
-
Flori E, Doray B, Rudolf G, Favre R, Girard-Lemaire F, Schluth C, Zix-Kieffer I, Flori J, Loriot M, Schhmitt E, Rumpler Y, Flori E 2003 Failure of prenatal diagnosis of diploid-triploid mosaicism after amniocentesis. Clin Genet 63:328-331
-
(2003)
Clin Genet
, vol.63
, pp. 328-331
-
-
Flori, E.1
Doray, B.2
Rudolf, G.3
Favre, R.4
Girard-Lemaire, F.5
Schluth, C.6
Zix-Kieffer, I.7
Flori, J.8
Loriot, M.9
Schhmitt, E.10
Rumpler, Y.11
Flori, E.12
-
9
-
-
0041765651
-
Three different origins for apparent triploid/diploid mosaicism
-
Daniel A, Wu Z, Darmanian A, Collins F, Jackson J 2003 Three different origins for apparent triploid/diploid mosaicism. Prenat Diagn 23:529-534
-
(2003)
Prenat Diagn
, vol.23
, pp. 529-534
-
-
Daniel, A.1
Wu, Z.2
Darmanian, A.3
Collins, F.4
Jackson, J.5
-
10
-
-
0016716288
-
A diploid-triploid human mosaic with cytogenetic evidence of double fertilization
-
Dewald G, Alvarez MN, Clouthier MD, Kelalis PP, Gordon H 1975 A diploid-triploid human mosaic with cytogenetic evidence of double fertilization. Clin Genet 8:149-160
-
(1975)
Clin Genet
, vol.8
, pp. 149-160
-
-
Dewald, G.1
Alvarez, M.N.2
Clouthier, M.D.3
Kelalis, P.P.4
Gordon, H.5
-
11
-
-
0014187397
-
Chimçre 46 XX/69XXY
-
Lejune J, Salmon C, Berger R, Rethore MO, Rossier A, Job JC 1967 Chimçre 46 XX/69XXY. Ann Genet 10:188-192
-
(1967)
Ann Genet
, vol.10
, pp. 188-192
-
-
Lejune, J.1
Salmon, C.2
Berger, R.3
Rethore, M.O.4
Rossier, A.5
Job, J.C.6
-
12
-
-
1642545556
-
Triploid/diploid mosaicism (69XXY/46XX) presenting as severe early onset preeclampsia with a live birth: Placental and cytogenetic features
-
Vatish M, Sebire NJ, Allgood C, McKeown C, Rees HC, Keay SD 2004 Triploid/diploid mosaicism (69XXY/46XX) presenting as severe early onset preeclampsia with a live birth: placental and cytogenetic features. Eur J Obstet Gynecol Reprod Biol 112:233-235
-
(2004)
Eur J Obstet Gynecol Reprod Biol
, vol.112
, pp. 233-235
-
-
Vatish, M.1
Sebire, N.J.2
Allgood, C.3
McKeown, C.4
Rees, H.C.5
Keay, S.D.6
-
13
-
-
0022522911
-
Use of Y chromosome specific probes to detect low level sex chromosome mosaicism
-
Tantravahi U, Bianchi DW, Haley C, Destrempes MM, Ricker AT, Korf BR, Latt SA 1986 Use of Y chromosome specific probes to detect low level sex chromosome mosaicism. Clin Genet 29:445-448
-
(1986)
Clin Genet
, vol.29
, pp. 445-448
-
-
Tantravahi, U.1
Bianchi, D.W.2
Haley, C.3
Destrempes, M.M.4
Ricker, A.T.5
Korf, B.R.6
Latt, S.A.7
-
14
-
-
3242876114
-
An unusual case of hermaphroditism-a 46,XX/69,XXY chimera
-
Wright NP, Wales JK 2004 An unusual case of hermaphroditism-a 46,XX/69,XXY chimera. J Pediatr Endocrinol Metab 17:905-908
-
(2004)
J Pediatr Endocrinol Metab
, vol.17
, pp. 905-908
-
-
Wright, N.P.1
Wales, J.K.2
-
15
-
-
18544411690
-
Triploidy in the child. I. Study of phenotype. An observation of triploidy with mosaicism 46, XX/69, XXY.]
-
David M, Chambon A, Laurent C, Plauchu H, Lindner D, Rouchon A, de Peretti E, Genoud J, Jeune M 1975 [Triploidy in the child. I. Study of phenotype. An observation of triploidy with mosaicism 46, XX/69, XXY.] Pediatrie 30:281-298
-
(1975)
Pediatrie
, vol.30
, pp. 281-298
-
-
David, M.1
Chambon, A.2
Laurent, C.3
Plauchu, H.4
Lindner, D.5
Rouchon, A.6
de Peretti, E.7
Genoud, J.8
Jeune, M.9
-
16
-
-
0014890591
-
Triploid- diploid in the lymphocytes of a liveborn child with multiple malformations
-
Van den Berge H, Verresen H 1970 Triploid- diploid in the lymphocytes of a liveborn child with multiple malformations. Hum Genet II:18-21
-
(1970)
Hum Genet
, vol.2
, pp. 18-21
-
-
Van den Berge, H.1
Verresen, H.2
-
17
-
-
0019226855
-
Triploid- diploid mosaicism in a deeply mentally retarded adult
-
Fryns JP, Vinken L, Geutjens J, Marien J, Deroover J, VanDen Berghe H 1980 Triploid- diploid mosaicism in a deeply mentally retarded adult. Ann Genet 23:232-234
-
(1980)
Ann Genet
, vol.23
, pp. 232-234
-
-
Fryns, J.P.1
Vinken, L.2
Geutjens, J.3
Marien, J.4
Deroover, J.5
VanDen Berghe, H.6
-
18
-
-
0034702291
-
Ovarian function after transplantation of frozen, banked autologous ovarian tissue
-
Oktay K, Karlikaya G 2000 Ovarian function after transplantation of frozen, banked autologous ovarian tissue. N Engl J Med 342:1919
-
(2000)
N Engl J Med
, vol.342
, pp. 1919
-
-
Oktay, K.1
Karlikaya, G.2
-
19
-
-
0025346057
-
XY female mice resulting from a heritable mutation in the murine primary testis determining gene
-
Lovell-Badge R, Robertson E 1990 XY female mice resulting from a heritable mutation in the murine primary testis determining gene. Development 109:635-646
-
(1990)
Development
, vol.109
, pp. 635-646
-
-
Lovell-Badge, R.1
Robertson, E.2
-
20
-
-
0025877323
-
-
Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R 1991 Male development of chromosomally female transgenic mice for Sry. Nature 351:117-121
-
Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R 1991 Male development of chromosomally female transgenic mice for Sry. Nature 351:117-121
-
-
-
-
21
-
-
11144329603
-
Signaling at the crossroads of gonad development
-
Ross AJ, Capel B 2005 Signaling at the crossroads of gonad development. Trends Endocrinol Metab 16:19-25
-
(2005)
Trends Endocrinol Metab
, vol.16
, pp. 19-25
-
-
Ross, A.J.1
Capel, B.2
-
22
-
-
0036460676
-
Novel mutations affecting SRY DNA-binding activity: The HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes
-
Assumpcao JG, Benedetti CE, Maciel-Guerra AT, Guerra Jr G, Baptista MT, Scolfaro MR, de Mello MP 2002 Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes. J Mol Med 80:782-790
-
(2002)
J Mol Med
, vol.80
, pp. 782-790
-
-
Assumpcao, J.G.1
Benedetti, C.E.2
Maciel-Guerra, A.T.3
Guerra Jr, G.4
Baptista, M.T.5
Scolfaro, M.R.6
de Mello, M.P.7
-
23
-
-
17844370241
-
Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome
-
Shahid M, Dhillon VS, Aslam M, Husain SA 2005 Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome. J Clin Endocrinol Metab 90:2429-2435
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 2429-2435
-
-
Shahid, M.1
Dhillon, V.S.2
Aslam, M.3
Husain, S.A.4
-
24
-
-
0030948046
-
Mutations in SRY and SOX9: Testis-determining gene
-
Cameron FJ, Sinclair AH 1997 Mutations in SRY and SOX9: testis-determining gene. Hum Mutat 9:388-395
-
(1997)
Hum Mutat
, vol.9
, pp. 388-395
-
-
Cameron, F.J.1
Sinclair, A.H.2
-
25
-
-
0020048860
-
Mus poschiavinus Y chromosome in the C57BL/6J murine genome causes sex reversal
-
Eicher EM, Washburn LL, Whitney JB, Morrow 3rd KE 1982 Mus poschiavinus Y chromosome in the C57BL/6J murine genome causes sex reversal. Science 217:535-537
-
(1982)
Science
, vol.217
, pp. 535-537
-
-
Eicher, E.M.1
Washburn, L.L.2
Whitney, J.B.3
Morrow 3rd, K.E.4
-
26
-
-
0030664450
-
DNA sequence analysis of Sry alleles (subgenus Mus) implicates misregulation as the cause of C57BL/6J-Y(POS) sex reversal and defines the SRY functional unit
-
Albrecht KA, Eicher EM 1997 DNA sequence analysis of Sry alleles (subgenus Mus) implicates misregulation as the cause of C57BL/6J-Y(POS) sex reversal and defines the SRY functional unit. Genetics 147:1267-1277
-
(1997)
Genetics
, vol.147
, pp. 1267-1277
-
-
Albrecht, K.A.1
Eicher, E.M.2
-
27
-
-
0029795232
-
Sex-determining genes on mouse autosomes identified by linkage analysis of C57BL/6J-YPOS sex reversal
-
Eicher EM, Washburn LL, Schork NJ, Lee BK, Shown EP, Xu X, Gredge RD, Pringle MJ, Page DC 1996 Sex-determining genes on mouse autosomes identified by linkage analysis of C57BL/6J-YPOS sex reversal. Nat Genet 14:206-209
-
(1996)
Nat Genet
, vol.14
, pp. 206-209
-
-
Eicher, E.M.1
Washburn, L.L.2
Schork, N.J.3
Lee, B.K.4
Shown, E.P.5
Xu, X.6
Gredge, R.D.7
Pringle, M.J.8
Page, D.C.9
-
28
-
-
0043268895
-
DAX-1, an unusual orphan receptor at the crossroad of steroidogenic function and sexual differentiation
-
Lalli E, Sassone-Corsi P 2003 DAX-1, an unusual orphan receptor at the crossroad of steroidogenic function and sexual differentiation. Mol Endocrinol 8:1445-1453
-
(2003)
Mol Endocrinol
, vol.8
, pp. 1445-1453
-
-
Lalli, E.1
Sassone-Corsi, P.2
-
29
-
-
0026573908
-
Full 69,XXY triploidy and sex-reversal: A further example of true hermaphrodism associated with multiple malformations
-
Petit P, Moerman P, Fryns JP 1992 Full 69,XXY triploidy and sex-reversal: a further example of true hermaphrodism associated with multiple malformations. Clin Genet 41:175-177
-
(1992)
Clin Genet
, vol.41
, pp. 175-177
-
-
Petit, P.1
Moerman, P.2
Fryns, J.P.3
-
30
-
-
0037794023
-
Fertilization abnormalities following human in vitro fertilization and intracytoplasmic sperm injection
-
Feng H, Herhlag A 2003 Fertilization abnormalities following human in vitro fertilization and intracytoplasmic sperm injection. Microsc Res Tech 61:358-361
-
(2003)
Microsc Res Tech
, vol.61
, pp. 358-361
-
-
Feng, H.1
Herhlag, A.2
|