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Volumn 155, Issue 5, 2011, Pages 1123-1128

From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN ZIC3; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

EID: 79955031510     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33859     Document Type: Article
Times cited : (51)

References (28)
  • 2
    • 0020523606 scopus 로고
    • Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family
    • Arnold GL, Bixler D, Girod D. 1983. Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. Am J Med Genet 16:35-42.
    • (1983) Am J Med Genet , vol.16 , pp. 35-42
    • Arnold, G.L.1    Bixler, D.2    Girod, D.3
  • 3
    • 0027454207 scopus 로고
    • Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1
    • Casey B, Devoto M, Jones KL, Ballabio A. 1993. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet 5:403-407.
    • (1993) Nat Genet , vol.5 , pp. 403-407
    • Casey, B.1    Devoto, M.2    Jones, K.L.3    Ballabio, A.4
  • 4
    • 34248334109 scopus 로고    scopus 로고
    • Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain
    • Chhin B, Hatayama M, Bozon D, Ogawa M, Schon P, Tohmonda T, Sassolas F, Aruga J, Valard AG, Chen SC, Bouvagnet P. 2007. Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. Hum Mutat 28:563-570.
    • (2007) Hum Mutat , vol.28 , pp. 563-570
    • Chhin, B.1    Hatayama, M.2    Bozon, D.3    Ogawa, M.4    Schon, P.5    Tohmonda, T.6    Sassolas, F.7    Aruga, J.8    Valard, A.G.9    Chen, S.C.10    Bouvagnet, P.11
  • 5
    • 0031012093 scopus 로고    scopus 로고
    • VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene
    • Cox PM, Gibson RA, Morgan N, Brueton LA. 1997. VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene. Am J Med Genet 68:86-90.
    • (1997) Am J Med Genet , vol.68 , pp. 86-90
    • Cox, P.M.1    Gibson, R.A.2    Morgan, N.3    Brueton, L.A.4
  • 6
    • 0023404015 scopus 로고
    • Familial situs inversus and congenital heart defects
    • Czeizel A. 1987. Familial situs inversus and congenital heart defects. Am J Med Genet 27:227-228.
    • (1987) Am J Med Genet , vol.27 , pp. 227-228
    • Czeizel, A.1
  • 7
    • 0024464012 scopus 로고
    • VACTERL with hydrocephalus: Further delineation of the syndrome(s)
    • Evan JA, Strane LC, Kaplan P, Hunter AGW. 1989. VACTERL with hydrocephalus: Further delineation of the syndrome(s). Am J Med Genet 34:177-182.
    • (1989) Am J Med Genet , vol.34 , pp. 177-182
    • Evan, J.A.1    Strane, L.C.2    Kaplan, P.3    Hunter, A.G.W.4
  • 10
    • 0029996324 scopus 로고    scopus 로고
    • VACTERL with hydrocephalus and brachial arch defects: Prenatal, clinical, and autopsy findings in tow brothers
    • Froster UG, Wallner SJ, Reusche E, Schwinger E, Rehder H. 1996. VACTERL with hydrocephalus and brachial arch defects: Prenatal, clinical, and autopsy findings in tow brothers. Am J Med Genet 62:169-172.
    • (1996) Am J Med Genet , vol.62 , pp. 169-172
    • Froster, U.G.1    Wallner, S.J.2    Reusche, E.3    Schwinger, E.4    Rehder, H.5
  • 13
    • 33749252180 scopus 로고    scopus 로고
    • Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
    • Holden ST, Cox JJ, Kesterton I, Thomas NS, Carr C, Woods CG. 2006. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. J Med Genet 43:750-754.
    • (2006) J Med Genet , vol.43 , pp. 750-754
    • Holden, S.T.1    Cox, J.J.2    Kesterton, I.3    Thomas, N.S.4    Carr, C.5    Woods, C.G.6
  • 14
    • 0031993561 scopus 로고    scopus 로고
    • Genetics of human left-right axis malformations
    • Kosaki K, Casey B. 1998. Genetics of human left-right axis malformations. Semin Cell Dev Biol 9:89-99.
    • (1998) Semin Cell Dev Biol , vol.9 , pp. 89-99
    • Kosaki, K.1    Casey, B.2
  • 15
    • 0042351971 scopus 로고
    • Different clusters with the VATER association distinguished through cardiac defects: Possible effects of teratologic timing
    • Lubinsky M, Moeshler J. 1987. Different clusters with the VATER association distinguished through cardiac defects: Possible effects of teratologic timing. Dysmorphol Clin Genet 1:80-82.
    • (1987) Dysmorphol Clin Genet , vol.1 , pp. 80-82
    • Lubinsky, M.1    Moeshler, J.2
  • 16
    • 0023625914 scopus 로고
    • X-linked laterality sequence: Situs inversus, complex cardiac defects, splenic defects
    • Mathias RS, Lacro RV, Jones KL. 1987. X-linked laterality sequence: Situs inversus, complex cardiac defects, splenic defects. Am J Med Genet 28:111-116.
    • (1987) Am J Med Genet , vol.28 , pp. 111-116
    • Mathias, R.S.1    Lacro, R.V.2    Jones, K.L.3
  • 18
    • 0000818639 scopus 로고
    • Situs inversus and cardiac defects. A study of 111 cases of reversed asymmetry
    • Merklin RJ, Varano NR. 1995. Situs inversus and cardiac defects. A study of 111 cases of reversed asymmetry. J Thorac Cardiovasc Surg 45:334-342.
    • (1995) J Thorac Cardiovasc Surg , vol.45 , pp. 334-342
    • Merklin, R.J.1    Varano, N.R.2
  • 20
    • 19144363551 scopus 로고    scopus 로고
    • Defects in the determination of left-right asymmetry
    • Splitt MP, Burn J, Goodship J. 1996. Defects in the determination of left-right asymmetry. J Med Genet 33:498-503.
    • (1996) J Med Genet , vol.33 , pp. 498-503
    • Splitt, M.P.1    Burn, J.2    Goodship, J.3
  • 21
    • 0000635001 scopus 로고
    • VACTERL association with hydrocephalus-A new recessive syndrome
    • Sujansky E, Leonard B. 1983. VACTERL association with hydrocephalus-A new recessive syndrome. Am J Hum Genet (Abstract) 35:119A.
    • (1983) Am J Hum Genet (Abstract) , vol.35
    • Sujansky, E.1    Leonard, B.2
  • 24
    • 0027166367 scopus 로고
    • VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance
    • Wang H, Hunter AGW, Clifford B, McLaughlin M, Thompson D. 1993. VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance. Am J Med Genet 47:114-117.
    • (1993) Am J Med Genet , vol.47 , pp. 114-117
    • Wang, H.1    Hunter, A.G.W.2    Clifford, B.3    McLaughlin, M.4    Thompson, D.5
  • 25
    • 0347003520 scopus 로고    scopus 로고
    • Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects
    • Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. 2004. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 74:93-105.
    • (2004) Am J Hum Genet , vol.74 , pp. 93-105
    • Ware, S.M.1    Peng, J.2    Zhu, L.3    Fernbach, S.4    Colicos, S.5    Casey, B.6    Towbin, J.7    Belmont, J.W.8
  • 26
    • 33644931874 scopus 로고    scopus 로고
    • Zic3 is critical for early embryonic patterning during gastrulation
    • Warre SM, Harutyunyan KG, Belmont JW. 2006a. Zic3 is critical for early embryonic patterning during gastrulation. Dev Dyn 235:776-785.
    • (2006) Dev Dyn , vol.235 , pp. 776-785
    • Warre, S.M.1    Harutyunyan, K.G.2    Belmont, J.W.3
  • 27
    • 33646860607 scopus 로고    scopus 로고
    • Heart defects in X-linked Heterotaxy: Evidence for a genetic interaction of Zic3 with the Nodal signaling pathway
    • Warre SM, Harutyunyan KG, Belmont JW. 2006b. Heart defects in X-linked Heterotaxy: Evidence for a genetic interaction of Zic3 with the Nodal signaling pathway. Dev Dyn 235:1631-1637.
    • (2006) Dev Dyn , vol.235 , pp. 1631-1637
    • Warre, S.M.1    Harutyunyan, K.G.2    Belmont, J.W.3
  • 28
    • 0023231555 scopus 로고
    • Familial situs inversus and congenital heart defects
    • Zlotogora J, Schimmel MS, Glaser Y. 1987. Familial situs inversus and congenital heart defects. Am J Med Genet 26:181-184.
    • (1987) Am J Med Genet , vol.26 , pp. 181-184
    • Zlotogora, J.1    Schimmel, M.S.2    Glaser, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.