-
1
-
-
19944384276
-
Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty
-
Aretz S, Raff R, Woelfle J, Zerres K, Esser M, Propping P, Eggermann T. 2005. Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty. Am J Med Genet Part A 135A:336-338.
-
(2005)
Am J Med Genet
, vol.135 A
, Issue.PART A
, pp. 336-338
-
-
Aretz, S.1
Raff, R.2
Woelfle, J.3
Zerres, K.4
Esser, M.5
Propping, P.6
Eggermann, T.7
-
2
-
-
0028351214
-
SRVX, a sex reversing locus in Xp21.2 → p22.11
-
Arn P, Chen H, Tuck-Muller CM, Mankinen C, Wachtel G, Li S, Shen CC, Wachtel SS. 1994. SRVX, a sex reversing locus in Xp21.2 → p22.11. Hum Genet 93:389-393.
-
(1994)
Hum Genet
, vol.93
, pp. 389-393
-
-
Arn, P.1
Chen, H.2
Tuck-Muller, C.M.3
Mankinen, C.4
Wachtel, G.5
Li, S.6
Shen, C.C.7
Wachtel, S.S.8
-
3
-
-
0028832817
-
Partial disomy of Xp and the presence of SRY in a phenotypic female
-
Bajalica S, Blennow E, Tsezou A, Galla-Voumvouraki A, Alevizaki M, Sinaniotis C, Kitsiou-Tzeli S. 1995. Partial disomy of Xp and the presence of SRY in a phenotypic female. J Med Genet 32:987-990.
-
(1995)
J Med Genet
, vol.32
, pp. 987-990
-
-
Bajalica, S.1
Blennow, E.2
Tsezou, A.3
Galla-Voumvouraki, A.4
Alevizaki, M.5
Sinaniotis, C.6
Kitsiou-Tzeli, S.7
-
4
-
-
34547728253
-
-
Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell Isolated. 2007. 46, XY gonadal dysgenesis in two sisters cause by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 92:3305-3313.
-
Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell Isolated. 2007. 46, XY gonadal dysgenesis in two sisters cause by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 92:3305-3313.
-
-
-
-
5
-
-
0028960403
-
Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers
-
Bardoni B, Schmitt-Ney M, Thiele H, Kaltwasser P, Cisternino M, Scherer G. 1994. Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am J Hum Genet 56:862-869.
-
(1994)
Am J Hum Genet
, vol.56
, pp. 862-869
-
-
Bardoni, B.1
Schmitt-Ney, M.2
Thiele, H.3
Kaltwasser, P.4
Cisternino, M.5
Scherer, G.6
-
6
-
-
13344270384
-
Xp-duplications with and without sex reversal
-
Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Júnior JC, Vogel W, Just W. 1996. Xp-duplications with and without sex reversal. Hum Genet 97:79-86.
-
(1996)
Hum Genet
, vol.97
, pp. 79-86
-
-
Baumstark, A.1
Barbi, G.2
Djalali, M.3
Geerkens, C.4
Mitulla, B.5
Mattfeldt, T.6
de Almeida, J.C.7
Vargas, F.R.8
Llerena Júnior, J.C.9
Vogel, W.10
Just, W.11
-
7
-
-
0026007719
-
Localization of the X inactivation centre on the human X chromosome in Xq13
-
Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF. 1991. Localization of the X inactivation centre on the human X chromosome in Xq13. Nature 349:82-84.
-
(1991)
Nature
, vol.349
, pp. 82-84
-
-
Brown, C.J.1
Lafreniere, R.G.2
Powers, V.E.3
Sebastio, G.4
Ballabio, A.5
Pettigrew, A.L.6
Ledbetter, D.H.7
Levy, E.8
Craig, I.W.9
Willard, H.F.10
-
8
-
-
55549141398
-
Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation
-
Gustashaw KM, Zurcher V, Dickerman LH, Stallard R, Willard HF. 1994. Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation. Am J Med Genet 33:216-220.
-
(1994)
Am J Med Genet
, vol.33
, pp. 216-220
-
-
Gustashaw, K.M.1
Zurcher, V.2
Dickerman, L.H.3
Stallard, R.4
Willard, H.F.5
-
9
-
-
0030035863
-
Sex reversal in a child with duplication of sex reversing locus on the short arm of the X chromosome (Xp)
-
Ito T, Kaino Y, Hirai H, Kida K, Nakahori Y, Nakagome Y. 1996. Sex reversal in a child with duplication of sex reversing locus on the short arm of the X chromosome (Xp). J Pediatr Endocrinol Metab 9:429-433.
-
(1996)
J Pediatr Endocrinol Metab
, vol.9
, pp. 429-433
-
-
Ito, T.1
Kaino, Y.2
Hirai, H.3
Kida, K.4
Nakahori, Y.5
Nakagome, Y.6
-
10
-
-
0036461367
-
Partial Xp duplication in a girl with dysmorphic features: The change in replication pattern of late-replicating dupX chromosome
-
Kokalj Vokac N, Seme Ciglenecki P, Erjavec A, Zagradisnik B, Zagorac A. 2002. Partial Xp duplication in a girl with dysmorphic features: The change in replication pattern of late-replicating dupX chromosome. Clin Genet 61:54-61.
-
(2002)
Clin Genet
, vol.61
, pp. 54-61
-
-
Kokalj Vokac, N.1
Seme Ciglenecki, P.2
Erjavec, A.3
Zagradisnik, B.4
Zagorac, A.5
-
11
-
-
18044394627
-
Functional disomy of Xp: Prenatal findings and postnatal outcome
-
Kolomietz E, Godbole K, Winsor EJ, Stockley T, Seaward G, Chitayat D. 2005. Functional disomy of Xp: Prenatal findings and postnatal outcome. Am J Med Genet Part A 134A:393-398.
-
(2005)
Am J Med Genet
, vol.134 A
, Issue.PART A
, pp. 393-398
-
-
Kolomietz, E.1
Godbole, K.2
Winsor, E.J.3
Stockley, T.4
Seaward, G.5
Chitayat, D.6
-
12
-
-
0032769462
-
Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature
-
Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T. 1999. Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature. Am J Med Genet 86:44-50.
-
(1999)
Am J Med Genet
, vol.86
, pp. 44-50
-
-
Matsuo, M.1
Muroya, K.2
Kosaki, K.3
Ishii, T.4
Fukushima, Y.5
Anzo, M.6
Ogata, T.7
-
13
-
-
0033847952
-
Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation
-
Portnoï MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite JL. 2000. Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation. Clin Genet 58:116-122.
-
(2000)
Clin Genet
, vol.58
, pp. 116-122
-
-
Portnoï, M.F.1
Bouayed-Abdelmoula, N.2
Mirc, M.3
Zemni, R.4
Castaing, H.5
Stephann, J.6
Ardalan, A.7
Vialard, F.8
Nouchy, M.9
Daoud, P.10
Chelly, J.11
Taillemite, J.L.12
-
14
-
-
3042761423
-
Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3)
-
Sanlaville D, Vialard F, Thépot F, Vue-Droy L, Ardalan A, Nizard P, Corré A, Devauchelle B, Martin-Denavit T, Nouchy M, Malan V, Taillemite JL, Portnoï MF. 2004. Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3). Am J Med Genet Part A 128A:325-330.
-
(2004)
Am J Med Genet
, vol.128 A
, Issue.PART A
, pp. 325-330
-
-
Sanlaville, D.1
Vialard, F.2
Thépot, F.3
Vue-Droy, L.4
Ardalan, A.5
Nizard, P.6
Corré, A.7
Devauchelle, B.8
Martin-Denavit, T.9
Nouchy, M.10
Malan, V.11
Taillemite, J.L.12
Portnoï, M.F.13
-
15
-
-
4344699068
-
Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype
-
Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N. 2004. Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype. Am J Med Genet Part A 130A:88-91.
-
(2004)
Am J Med Genet
, vol.130 A
, Issue.PART A
, pp. 88-91
-
-
Stevenson, D.A.1
Brothman, A.R.2
Chen, Z.3
Bayrak-Toydemir, P.4
Longo, N.5
-
16
-
-
0029912474
-
Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
-
Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G. 1996. Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet 12:404-409.
-
(1996)
Nat Genet
, vol.12
, pp. 404-409
-
-
Swain, A.1
Zanaria, E.2
Hacker, A.3
Lovell-Badge, R.4
Camerino, G.5
-
17
-
-
0032546009
-
Dax1 antagonizes Sry action in mammalian sex determination
-
Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R. 1998. Dax1 antagonizes Sry action in mammalian sex determination. Nature 391:761-767.
-
(1998)
Nature
, vol.391
, pp. 761-767
-
-
Swain, A.1
Narvaez, V.2
Burgoyne, P.3
Camerino, G.4
Lovell-Badge, R.5
-
18
-
-
0027957103
-
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
-
Zanaria E, Bardoni B, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M. 1994. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501.
-
(1994)
Nat Genet
, vol.7
, pp. 497-501
-
-
Zanaria, E.1
Bardoni, B.2
Guioli, S.3
Floridia, G.4
Worley, K.C.5
Tonini, G.6
Ferrante, E.7
Chiumello, G.8
McCabe, E.R.9
Fraccaro, M.10
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