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Volumn 52, Issue 2, 2012, Pages 106-110

Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

Author keywords

Balanced translocation; Blastogenesis; Breakpoint; Disruption; Sirenomelia

Indexed keywords

GEMEPROST;

EID: 84861664646     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/j.1741-4520.2011.00326.x     Document Type: Article
Times cited : (16)

References (26)
  • 1
    • 0035862977 scopus 로고    scopus 로고
    • The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures
    • Abu-Abed S, Dollé P, Metzger D, Beckett B, Chambon P, Petkovich M. 2001. The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures. Genes Dev 15:226-240.
    • (2001) Genes Dev , vol.15 , pp. 226-240
    • Abu-Abed, S.1    Dollé, P.2    Metzger, D.3    Beckett, B.4    Chambon, P.5    Petkovich, M.6
  • 5
    • 37249055007 scopus 로고    scopus 로고
    • Five cases of caudal regression with an aberrant abdominal umbilical artery: further support for a caudal regression-sirenomelia spectrum
    • Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP. 2007. Five cases of caudal regression with an aberrant abdominal umbilical artery: further support for a caudal regression-sirenomelia spectrum. Am J Med Genet Part A 143A:3175-3184.
    • (2007) Am J Med Genet Part A , vol.143 , pp. 3175-3184
    • Duesterhoeft, S.M.1    Ernst, L.M.2    Siebert, J.R.3    Kapur, R.P.4
  • 6
    • 0041554305 scopus 로고
    • Sirens, aprosopi and intestinal abnormalities in the house mouse
    • Gluecksohn-Schoenheimer S, Dunn LC. 1945. Sirens, aprosopi and intestinal abnormalities in the house mouse. Anat Rec 92:201-213.
    • (1945) Anat Rec , vol.92 , pp. 201-213
    • Gluecksohn-Schoenheimer, S.1    Dunn, L.C.2
  • 7
    • 0027474269 scopus 로고
    • Uniparental disomy for chromosome 16 in humans
    • Kalousek D, Langlois S, Barrett I etal. 1993. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 52:8-16.
    • (1993) Am J Hum Genet , vol.52 , pp. 8-16
    • Kalousek, D.1    Langlois, S.2    Barrett, I.3
  • 8
    • 0004184523 scopus 로고
    • On sirenoform monsters, with a consideration of the causation and the predominance of the male sex among them
    • Kampmeier OF. 1927. On sirenoform monsters, with a consideration of the causation and the predominance of the male sex among them. Anat Rec 34:365-369.
    • (1927) Anat Rec , vol.34 , pp. 365-369
    • Kampmeier, O.F.1
  • 9
    • 0042324175 scopus 로고    scopus 로고
    • Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia
    • Kjaer KW, Keeling JW, Opitz JM etal. 2003. Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia. Am J Med Genet 120A:503-508.
    • (2003) Am J Med Genet , vol.120 , pp. 503-508
    • Kjaer, K.W.1    Keeling, J.W.2    Opitz, J.M.3
  • 10
    • 2342535716 scopus 로고    scopus 로고
    • Zing finger 81 (ZNF81) mutations associated with X-linked mental retardation
    • Kleefstra T, Yntema HG, Oudakker AR etal. 2004. Zing finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet 41:394-399.
    • (2004) J Med Genet , vol.41 , pp. 394-399
    • Kleefstra, T.1    Yntema, H.G.2    Oudakker, A.R.3
  • 13
    • 0031895609 scopus 로고    scopus 로고
    • Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association
    • Onyeije CI, Shere DM, Handwerker S, Shah L. 1998. Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association. Am J Perinat 15:193-197.
    • (1998) Am J Perinat , vol.15 , pp. 193-197
    • Onyeije, C.I.1    Shere, D.M.2    Handwerker, S.3    Shah, L.4
  • 15
    • 0020408967 scopus 로고
    • Craniofacial, caudal, and visceral anomalies associated with mutant sirenomelic mice
    • Orr BY, Long SY, Steffek AJ. 1982. Craniofacial, caudal, and visceral anomalies associated with mutant sirenomelic mice. Teratology 26:311-317.
    • (1982) Teratology , vol.26 , pp. 311-317
    • Orr, B.Y.1    Long, S.Y.2    Steffek, A.J.3
  • 16
    • 0032034141 scopus 로고    scopus 로고
    • Retinoic acid-induced caudal regression syndrome in the mouse fetus
    • Padmanabhan R. 1998. Retinoic acid-induced caudal regression syndrome in the mouse fetus. Reprod Toxicol 12:139-151.
    • (1998) Reprod Toxicol , vol.12 , pp. 139-151
    • Padmanabhan, R.1
  • 17
    • 0035862976 scopus 로고    scopus 로고
    • The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterior-posterior axis within the mouse embryo
    • Sakai Y, Meno C, Fujii H etal. 2001. The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterior-posterior axis within the mouse embryo. Genes Dev 15:213-225.
    • (2001) Genes Dev , vol.15 , pp. 213-225
    • Sakai, Y.1    Meno, C.2    Fujii, H.3
  • 18
    • 0037785313 scopus 로고    scopus 로고
    • Sirenomelia, the mermaid syndrome - detection in the first trimester
    • Schiesser M, Holzgreve W, Lapaire O etal. 2003. Sirenomelia, the mermaid syndrome - detection in the first trimester. Prenat Diagn 23:493-495.
    • (2003) Prenat Diagn , vol.23 , pp. 493-495
    • Schiesser, M.1    Holzgreve, W.2    Lapaire, O.3
  • 19
    • 0015909017 scopus 로고
    • Developmental aspects of sirenomelia in the mouse
    • Schreiner CA, Hoornbeek FK. 1973. Developmental aspects of sirenomelia in the mouse. J Morphol 141:345-357.
    • (1973) J Morphol , vol.141 , pp. 345-357
    • Schreiner, C.A.1    Hoornbeek, F.K.2
  • 21
    • 0022450564 scopus 로고
    • Vascular steal: The pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues
    • Stevenson RE, Jones KL, Phelan MC etal. 1986. Vascular steal: The pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. Pediatrics 78:451-457.
    • (1986) Pediatrics , vol.78 , pp. 451-457
    • Stevenson, R.E.1    Jones, K.L.2    Phelan, M.C.3
  • 22
    • 0023075701 scopus 로고
    • Sirenomelia. A morphological study of 33 cases and review of the literature
    • Stocker J, Heifetz S. 1987. Sirenomelia. A morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol 10:7-50.
    • (1987) Perspect Pediatr Pathol , vol.10 , pp. 7-50
    • Stocker, J.1    Heifetz, S.2
  • 24
    • 0027941823 scopus 로고
    • Human maternal uniparental disomy for chromosome 16 and fetal development
    • Vaughan J, Ali Z, Bower S, Bennett P, Chard T, Moore G. 1994. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 14:751-756.
    • (1994) Prenat Diagn , vol.14 , pp. 751-756
    • Vaughan, J.1    Ali, Z.2    Bower, S.3    Bennett, P.4    Chard, T.5    Moore, G.6
  • 25
    • 0029952770 scopus 로고    scopus 로고
    • Pathogenesis of caudal dysgenesis/sirenomelia induced by ochratoxin A in chick embryos
    • Wei X, Sulik KK. 1996. Pathogenesis of caudal dysgenesis/sirenomelia induced by ochratoxin A in chick embryos. Teratology 53:378-391.
    • (1996) Teratology , vol.53 , pp. 378-391
    • Wei, X.1    Sulik, K.K.2
  • 26
    • 21044444466 scopus 로고    scopus 로고
    • Sirenomelia in Bmp7 and Tsg compound mutant mice: requirement for Bmp signaling in the development of vertebral posterior mesoderm
    • Zakin L, Reversade B, Kuroda H, Lyons KM, De Robertis EM. 2005. Sirenomelia in Bmp7 and Tsg compound mutant mice: requirement for Bmp signaling in the development of vertebral posterior mesoderm. Development 132:2489-2499.
    • (2005) Development , vol.132 , pp. 2489-2499
    • Zakin, L.1    Reversade, B.2    Kuroda, H.3    Lyons, K.M.4    De Robertis, E.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.