메뉴 건너뛰기




Volumn 51, Issue 5, 1997, Pages 331-337

Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies

Author keywords

Caudal dysplasia; Female pseudohermaphroditism; PAX2; Sex differentiation; X inactivation

Indexed keywords

ANDROGEN RECEPTOR; TESTOSTERONE;

EID: 0031008923     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02483.x     Document Type: Article
Times cited : (14)

References (30)
  • 1
    • 0026678490 scopus 로고
    • Methylation of HpaII and HpaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HpaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992: 51: 1229-1239.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zoghbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 2
    • 0030043923 scopus 로고    scopus 로고
    • X-Chromosome inactivation is mostly random in placental tissues of female monozygotic twins and triplets
    • Bamforth F, Machin G, Innes M. X-Chromosome inactivation is mostly random in placental tissues of female monozygotic twins and triplets. Am J Med Genet 1996: 61: 209-215.
    • (1996) Am J Med Genet , vol.61 , pp. 209-215
    • Bamforth, F.1    Machin, G.2    Innes, M.3
  • 3
    • 0025324635 scopus 로고
    • Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status
    • Boyd Y, Fraser NJ. Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): correlation with X-inactivation status. Genomics 1990: 7: 182-187.
    • (1990) Genomics , vol.7 , pp. 182-187
    • Boyd, Y.1    Fraser, N.J.2
  • 4
    • 0010742668 scopus 로고
    • Nuclear sex and genital malformation in 48 cases of renal agenesis, with special reference to non-specific female pseudohermaphroditism
    • Carpentier PJ, Potter EL. Nuclear sex and genital malformation in 48 cases of renal agenesis, with special reference to non-specific female pseudohermaphroditism. Am J Obstet Gynecol 1959: 78: 235-258.
    • (1959) Am J Obstet Gynecol , vol.78 , pp. 235-258
    • Carpentier, P.J.1    Potter, E.L.2
  • 5
    • 0028298216 scopus 로고
    • A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom)
    • Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metabol 1994: 78: 1287-1292.
    • (1994) J Clin Endocrinol Metabol , vol.78 , pp. 1287-1292
    • Conte, F.A.1    Grumbach, M.M.2    Ito, Y.3    Fisher, C.R.4    Simpson, E.R.5
  • 7
    • 0025348556 scopus 로고
    • Use of a probe for the putative sex determining gene, Zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis
    • Erickson RP, Verga V, Dasouki M. Use of a probe for the putative sex determining gene, Zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis. Am J Med Genet 1990: 36: 232-236.
    • (1990) Am J Med Genet , vol.36 , pp. 232-236
    • Erickson, R.P.1    Verga, V.2    Dasouki, M.3
  • 9
    • 0030042952 scopus 로고    scopus 로고
    • X-inactivation patterns in monozygotic and dizygotic female twins
    • Goodship J, Carter J, Burn J. X-inactivation patterns in monozygotic and dizygotic female twins. Am J Med Genet 1996: 61: 205-208.
    • (1996) Am J Med Genet , vol.61 , pp. 205-208
    • Goodship, J.1    Carter, J.2    Burn, J.3
  • 10
    • 0026782515 scopus 로고
    • X chromosome inactivation patterns in haematopoietic cells of female carriers of X-linked severe combined immunodeficiency determined by methylation analysis at the hypervariable DXS255 locus
    • Hendriks RW, Kraakman MEM, Schuurman RKB. X chromosome inactivation patterns in haematopoietic cells of female carriers of X-linked severe combined immunodeficiency determined by methylation analysis at the hypervariable DXS255 locus. Clin Genet 1992: 42: 114-121.
    • (1992) Clin Genet , vol.42 , pp. 114-121
    • Hendriks, R.W.1    Kraakman, M.E.M.2    Schuurman, R.K.B.3
  • 11
    • 0020955184 scopus 로고
    • Prune belly syndrome and female pseudoherrnaphroditism
    • Hokamp HG, Muller KM. Prune belly syndrome and female pseudoherrnaphroditism. Pathol Res Pract 1983: 177: 76-83.
    • (1983) Pathol Res Pract , vol.177 , pp. 76-83
    • Hokamp, H.G.1    Muller, K.M.2
  • 13
    • 0018934204 scopus 로고
    • Female pseudohermaphroditism and associated anomalies
    • Lubinsky MS. Female pseudohermaphroditism and associated anomalies. Am J Med Genet 1980: 6: 123-136.
    • (1980) Am J Med Genet , vol.6 , pp. 123-136
    • Lubinsky, M.S.1
  • 15
    • 0029877186 scopus 로고    scopus 로고
    • Report of the first international workshop in human chromosome 10 mapping 1995
    • Moschonas NK, Spurr NK, Mao J. Report of the first international workshop in human chromosome 10 mapping 1995. Cytogenet Cell Genet 1996: 72: 99-112
    • (1996) Cytogenet Cell Genet , vol.72 , pp. 99-112
    • Moschonas, N.K.1    Spurr, N.K.2    Mao, J.3
  • 16
    • 0027428665 scopus 로고
    • Blastogenesis and the "primary field" in human development
    • Optiz J. Blastogenesis and the "primary field" in human development. Birth Defects: Original Article Series 1993: 29: 3-37.
    • (1993) Birth Defects: Original Article Series , vol.29 , pp. 3-37
    • Optiz, J.1
  • 17
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989: 5: 874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 18
    • 0029125760 scopus 로고
    • Penoscrotal transposition and associated anomalies: Report of five new cases and review of the literature
    • Parida SK, Hall BD, Barton L, Fujimoto A. Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. Am J Med Genet 1995: 59: 69-75.
    • (1995) Am J Med Genet , vol.59 , pp. 69-75
    • Parida, S.K.1    Hall, B.D.2    Barton, L.3    Fujimoto, A.4
  • 19
    • 1842373018 scopus 로고
    • Female pseudohermaphroditism: A description of two unusual cases
    • Perloff WH, Conger KB, Ley L. Female pseudohermaphroditism: a description of two unusual cases. J Clin Endocrinol 1953: 13: 783-790.
    • (1953) J Clin Endocrinol , vol.13 , pp. 783-790
    • Perloff, W.H.1    Conger, K.B.2    Ley, L.3
  • 20
    • 0027152170 scopus 로고
    • Aberrant expression of Pax2 in Danforth's short tail (Sd) mice
    • Phelps DE, Dressler GR. Aberrant expression of Pax2 in Danforth's short tail (Sd) mice. Dev Biol 1993: 157: 251-258.
    • (1993) Dev Biol , vol.157 , pp. 251-258
    • Phelps, D.E.1    Dressler, G.R.2
  • 21
    • 0026022895 scopus 로고
    • Prune belly syndrome in females: A triad of abdominal muscular deficiency and anomalies of the urinary and genital systems
    • Reinberg Y, Shapiro E, Manivel JC, Manley CB, Pettinato G, Gonzalez R. Prune belly syndrome in females: a triad of abdominal muscular deficiency and anomalies of the urinary and genital systems. J Pediatr 1991: 118: 395-398.
    • (1991) J Pediatr , vol.118 , pp. 395-398
    • Reinberg, Y.1    Shapiro, E.2    Manivel, J.C.3    Manley, C.B.4    Pettinato, G.5    Gonzalez, R.6
  • 22
    • 0021400830 scopus 로고
    • Agenesis of the cloacal membrane: A possible teratogenic anomaly
    • Robinson Jr HB, Tross K. Agenesis of the cloacal membrane: a possible teratogenic anomaly. Perspect Pediatr Pathol 1984: 8: 79-96.
    • (1984) Perspect Pediatr Pathol , vol.8 , pp. 79-96
    • Robinson Jr., H.B.1    Tross, K.2
  • 23
    • 0027429223 scopus 로고
    • Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development
    • Rothenpieier UW, Dressier GR. Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development. Development 1993: 119: 711-720.
    • (1993) Development , vol.119 , pp. 711-720
    • Rothenpieier, U.W.1    Dressier, G.R.2
  • 28
    • 0028203729 scopus 로고
    • Female pseudohermaphroditism with multiple caudal anomalies: Absence of Y-specific DNA sequences as pathogenetic factors
    • Seaver LH, Grimes J, Erickson RP. Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors. Am J Med Genet 1994: 51: 16-21.
    • (1994) Am J Med Genet , vol.51 , pp. 16-21
    • Seaver, L.H.1    Grimes, J.2    Erickson, R.P.3
  • 29
    • 0027986937 scopus 로고
    • X inactivation patterns in female monozygotic twins and their families
    • Watkiss E, Webb T, Rysiecki G, Girdler N, Hewett E, Bundey. X inactivation patterns in female monozygotic twins and their families. J Med Genet 1994: 31: 754-757.
    • (1994) J Med Genet , vol.31 , pp. 754-757
    • Watkiss, E.1    Webb, T.2    Rysiecki, G.3    Girdler, N.4    Hewett, E.5    Bundey6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.