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Volumn 71, Issue 5, 2007, Pages 392-399

An overview of isolated and syndromic oesophageal atresia

Author keywords

CHARGE syndrome; CHD7; N MYC; Oesophageal atresia; Review; VACTERL

Indexed keywords

CARBIMAZOLE; GENE PRODUCT; MITOCHONDRIAL DNA; MYC PROTEIN; PROTEIN CHD7; PROTEIN N MYC; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG;

EID: 34248348759     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00798.x     Document Type: Review
Times cited : (75)

References (66)
  • 1
    • 0037308660 scopus 로고    scopus 로고
    • Three-dimensional imaging clarifies the process of tracheoesophageal separation in the rat
    • Williams AK, Quan QB, Beasley SW. Three-dimensional imaging clarifies the process of tracheoesophageal separation in the rat. J Pediatr Surg 2003: 38: 173-177.
    • (2003) J Pediatr Surg , vol.38 , pp. 173-177
    • Williams, A.K.1    Quan, Q.B.2    Beasley, S.W.3
  • 2
    • 0034036351 scopus 로고    scopus 로고
    • Stages of normal tracheo-bronchial development in rat embryos: Resolution of a controversy
    • Qi BQ, Beasley SW. Stages of normal tracheo-bronchial development in rat embryos: Resolution of a controversy. Dev Growth Differ 2000: 42: 145-153.
    • (2000) Dev Growth Differ , vol.42 , pp. 145-153
    • Qi, B.Q.1    Beasley, S.W.2
  • 3
    • 0037317275 scopus 로고    scopus 로고
    • The embryology of the foregut
    • Kluth D, Fiegel H. The embryology of the foregut. Semin Pediatr Surg 2003: 12: 3-9.
    • (2003) Semin Pediatr Surg , vol.12 , pp. 3-9
    • Kluth, D.1    Fiegel, H.2
  • 5
    • 0000947898 scopus 로고    scopus 로고
    • Congenital anomalies of the esophagus
    • In: O'Neill, James A et al. eds. 5th edn. St Louis: Mosby
    • Harmon CM, Coran AG. Congenital anomalies of the esophagus. In: O'Neill, James A et al. eds. Pediatric surgery, 5th edn. St Louis: Mosby, 1998: 941-967.
    • (1998) Pediatric Surgery , pp. 941-967
    • Harmon, C.M.1    Coran, A.G.2
  • 6
    • 33747065208 scopus 로고    scopus 로고
    • Morphogenesis of the trachea and esophagus: Current players and new roles for noggin and Bmps
    • Que J, Choi M, Ziel JW et al. Morphogenesis of the trachea and esophagus: Current players and new roles for noggin and Bmps. Differentiation 2006: 74: 422-437.
    • (2006) Differentiation , vol.74 , pp. 422-437
    • Que, J.1    Choi, M.2    Ziel, J.W.3
  • 7
    • 0027653905 scopus 로고
    • An international collaborative study of the epidemiology of esophageal atresia or stenosis
    • Robert E, Mutchinick O, Mastroiacovo P et al. An international collaborative study of the epidemiology of esophageal atresia or stenosis. Reprod Toxicol 1993: 7: 405-421.
    • (1993) Reprod Toxicol , vol.7 , pp. 405-421
    • Robert, E.1    Mutchinick, O.2    Mastroiacovo, P.3
  • 8
    • 0027231636 scopus 로고
    • The epidemiology of tracheo-oesophageal fistula and oesophageal atresia in Europe EUROCAT Working Group
    • DePaepe A, Dolk H, Lechat MF. The epidemiology of tracheo-oesophageal fistula and oesophageal atresia in Europe EUROCAT Working Group. Arch Dis Child 1993: 68: 743-748.
    • (1993) Arch Dis Child , vol.68 , pp. 743-748
    • DePaepe, A.1    Dolk, H.2    Lechat, M.F.3
  • 9
    • 0029617715 scopus 로고
    • Population-based study of tracheoesophageal fistula and esophageal atresia
    • Torfs CP, Curry CJ, Bateson TF. Population-based study of tracheoesophageal fistula and esophageal atresia. Teratology 1995: 52: 220-232.
    • (1995) Teratology , vol.52 , pp. 220-232
    • Torfs, C.P.1    Curry, C.J.2    Bateson, T.F.3
  • 10
    • 33745906255 scopus 로고    scopus 로고
    • Oesophageal atresia, tracheo-oesophageal fistula and the VACTERL association: Review of genetics and epidemiology
    • Shaw-Smith CJ. Oesophageal atresia, tracheo-oesophageal fistula and the VACTERL association: Review of genetics and epidemiology. J Med Genet 2006: 43: 545-554.
    • (2006) J Med Genet , vol.43 , pp. 545-554
    • Shaw-Smith, C.J.1
  • 11
    • 0033516699 scopus 로고    scopus 로고
    • Oesophageal atresia, related malformations, and medical problems: A family study
    • Brown AK, Roddam AW, Spitz L, Ward SJ. Oesophageal atresia, related malformations, and medical problems: A family study. Am J Med Genet 1999: 85: 31-37.
    • (1999) Am J Med Genet , vol.85 , pp. 31-37
    • Brown, A.K.1    Roddam, A.W.2    Spitz, L.3    Ward, S.J.4
  • 12
    • 19444366179 scopus 로고    scopus 로고
    • Genetics players in esophageal atresia and tracheoesophageal fistula
    • Brunner HG, van Bokhoven H. Genetics players in esophageal atresia and tracheoesophageal fistula. Curr Opin Genet Dev 2005: 15: 314-347.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 314-347
    • Brunner, H.G.1    van Bokhoven, H.2
  • 13
    • 0018692028 scopus 로고
    • Offspring of patients with tracheo-oesophageal fistula
    • Warren J, Evans K, Carter CO. Offspring of patients with tracheo-oesophageal fistula. J Med Genet 1979: 16: 338-340.
    • (1979) J Med Genet , vol.16 , pp. 338-340
    • Warren, J.1    Evans, K.2    Carter, C.O.3
  • 14
    • 34248381326 scopus 로고    scopus 로고
    • (Murdock Institute, Australia). Syndromes 3077, 3114, 3126, 3686, 3073, 4742 and 3124 for mosaic trisomy 8, triploidy, dup 1q32-qter, dup 2q, dup 5q, dup 7p and dup 12q respectively
    • POSSUM (Picture of Standard Syndromes and Undiagnosed Malformations) Database version 5.7.1 (Murdock Institute, Australia). Syndromes 3077, 3114, 3126, 3686, 3073, 4742 and 3124 for mosaic trisomy 8, triploidy, dup 1q32-qter, dup 2q, dup 5q, dup 7p and dup 12q respectively, 2004.
    • (2004) POSSUM (Picture of Standard Syndromes and Undiagnosed Malformations) Database Version 5.7.1
  • 15
    • 0033828701 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia
    • Marsh AJ, Wellesley D, Burge D et al. Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia. J Med Genet 2000: 37: 701-704.
    • (2000) J Med Genet , vol.37 , pp. 701-704
    • Marsh, A.J.1    Wellesley, D.2    Burge, D.3
  • 16
    • 0032993107 scopus 로고    scopus 로고
    • Microdeletion 22q11 and oesophageal atresia
    • Digilio MC, Marino B, Bagolan P et al. Microdeletion 22q11 and oesophageal atresia. J Med Genet 1999: 36: 137-139.
    • (1999) J Med Genet , vol.36 , pp. 137-139
    • Digilio, M.C.1    Marino, B.2    Bagolan, P.3
  • 17
    • 0142248856 scopus 로고    scopus 로고
    • Esophageal atresia and tracheoesophageal fistula in a patient with Digeorge syndrome
    • Kilic SS, Gurpinar A, Yakut T et al. Esophageal atresia and tracheoesophageal fistula in a patient with Digeorge syndrome. J Pediatr Surg 2003: 38: E21-E23.
    • (2003) J Pediatr Surg , vol.38
    • Kilic, S.S.1    Gurpinar, A.2    Yakut, T.3
  • 18
    • 19444387390 scopus 로고    scopus 로고
    • Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
    • Giorda R, Cerritello A, Bonaglia MC et al. Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia. J Med Genet 2004: 41: e71.
    • (2004) J Med Genet , vol.41
    • Giorda, R.1    Cerritello, A.2    Bonaglia, M.C.3
  • 19
    • 0027428665 scopus 로고
    • Blastogenesis and the "primary field" in human development
    • Opitz JM. Blastogenesis and the "primary field" in human development. Birth Defects Orig Artic Ser 1993: 29: 3-37.
    • (1993) Birth Defects Orig Artic Ser , vol.29 , pp. 3-37
    • Opitz, J.M.1
  • 20
    • 0015541929 scopus 로고
    • The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects
    • Quan L, Smith DW The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects. J Pediatr 1973: 82: 104-107.
    • (1973) J Pediatr , vol.82 , pp. 104-107
    • Quan, L.1    Smith, D.W.2
  • 21
    • 0342936349 scopus 로고    scopus 로고
    • VATER non-random association of congenital malformations: Study based on data from four malformation registers
    • Kallen K, Mastroiacovo P, Castilla EE et al. VATER non-random association of congenital malformations: Study based on data from four malformation registers. Am J Med Genet 2001: 101: 26-32.
    • (2001) Am J Med Genet , vol.101 , pp. 26-32
    • Kallen, K.1    Mastroiacovo, P.2    Castilla, E.E.3
  • 22
    • 0041331636 scopus 로고    scopus 로고
    • Antenatal manifestations of mitochondrial respiratory chain deficiency
    • von Kleist-Retzow JC, Cormier-Daire V, Viot G et al. Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr 2003: 143: 208-212.
    • (2003) J Pediatr , vol.143 , pp. 208-212
    • von Kleist-Retzow, J.C.1    Cormier-Daire, V.2    Viot, G.3
  • 23
    • 32244436957 scopus 로고    scopus 로고
    • Another observation with VATER association and a complex IV respiratory chain deficiency
    • Thauvin-Robinet C, Faivre L, Huet F et al. Another observation with VATER association and a complex IV respiratory chain deficiency. Eur J Med Genet 2006: 49: 71-77.
    • (2006) Eur J Med Genet , vol.49 , pp. 71-77
    • Thauvin-Robinet, C.1    Faivre, L.2    Huet, F.3
  • 24
    • 12444301795 scopus 로고    scopus 로고
    • Association MURCS: A challenging diagnosis
    • Vergnes C, Cordier MP, Dubois R et al. Association MURCS: A challenging diagnosis. Arch Pediatr 2005: 12: 49-51.
    • (2005) Arch Pediatr , vol.12 , pp. 49-51
    • Vergnes, C.1    Cordier, M.P.2    Dubois, R.3
  • 25
    • 17644411051 scopus 로고    scopus 로고
    • Right esophageal lung in a preterm child with VACTERL association and Mayer-Rokitansky-Kuster-Hauser syndrome
    • Linke F, Kraemer W, Ansorge M et al. Right esophageal lung in a preterm child with VACTERL association and Mayer-Rokitansky-Kuster-Hauser syndrome. Pediatr Surg Int 2005: 21: 285-288.
    • (2005) Pediatr Surg Int , vol.21 , pp. 285-288
    • Linke, F.1    Kraemer, W.2    Ansorge, M.3
  • 26
    • 0141993865 scopus 로고    scopus 로고
    • Feingold syndrome: Clinical review and genetic mapping
    • Celli J, van Bokhoven H, Brunner HG. Feingold syndrome: Clinical review and genetic mapping. Am J Med Genet A 2003: 122: 294-300.
    • (2003) Am J Med Genet A , vol.122 , pp. 294-300
    • Celli, J.1    van Bokhoven, H.2    Brunner, H.G.3
  • 27
    • 20944433656 scopus 로고    scopus 로고
    • MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
    • van Bokhoven H, Celli J, van Reeuwijk et al. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 2005: 37: 465-467.
    • (2005) Nat Genet , vol.37 , pp. 465-467
    • van Bokhoven, H.1    Celli, J.2    van Reeuwijk3
  • 28
    • 32644454031 scopus 로고    scopus 로고
    • N-Myc functions in transcription and development
    • Hurlin PJ. N-Myc functions in transcription and development. Birth Defects Res C Embryo Today 2005: 75: 340-352.
    • (2005) Birth Defects Res C Embryo Today , vol.75 , pp. 340-352
    • Hurlin, P.J.1
  • 29
    • 33646162880 scopus 로고    scopus 로고
    • Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
    • Williamson KA, Hever AM, Rainger J et al. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet 2006: 15: 1413-1422.
    • (2006) Hum Mol Genet , vol.15 , pp. 1413-1422
    • Williamson, K.A.1    Hever, A.M.2    Rainger, J.3
  • 30
    • 0344953586 scopus 로고    scopus 로고
    • Mutations in SOX2 cause anophthalmia
    • Fantes J, Ragge NK, Lynch SA et al. Mutations in SOX2 cause anophthalmia. Nat Genet 2003: 33: 461-463.
    • (2003) Nat Genet , vol.33 , pp. 461-463
    • Fantes, J.1    Ragge, N.K.2    Lynch, S.A.3
  • 31
    • 0028233104 scopus 로고
    • Epidemiological analysis of outcomes of pregnancy in diabetic mothers: Identification of the most characteristic and most frequent congenital anomalies
    • Martinez-Frias ML. Epidemiological analysis of outcomes of pregnancy in diabetic mothers: Identification of the most characteristic and most frequent congenital anomalies. Am J Med Genet 1994: 51: 108-113.
    • (1994) Am J Med Genet , vol.51 , pp. 108-113
    • Martinez-Frias, M.L.1
  • 32
    • 0018092417 scopus 로고
    • The foetal alcohol syndrome
    • Clarren SK, Smith DW. The foetal alcohol syndrome. N Engl J Med 1978: 298: 1036-1067.
    • (1978) N Engl J Med , vol.298 , pp. 1036-1067
    • Clarren, S.K.1    Smith, D.W.2
  • 33
    • 0025851325 scopus 로고
    • Tracheoesophageal and anal atresia in prenatal children exposed to a high dose of alcohol
    • Martinez-Frias ML, Rodriguez-Pinilla E. Tracheoesophageal and anal atresia in prenatal children exposed to a high dose of alcohol. Am J Med Genet 1991: 40: 128.
    • (1991) Am J Med Genet , vol.40 , pp. 128
    • Martinez-Frias, M.L.1    Rodriguez-Pinilla, E.2
  • 34
    • 0036677570 scopus 로고    scopus 로고
    • Sonic hedgehog rescues cranial neural crest from cell death induced by ethanol exposure
    • Ahlgren SC, Thakur V, Bronner-Fraser M. Sonic hedgehog rescues cranial neural crest from cell death induced by ethanol exposure. Proc Natl Acad Sci U S A 2002: 99: 10476-10481.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 10476-10481
    • Ahlgren, S.C.1    Thakur, V.2    Bronner-Fraser, M.3
  • 35
    • 0023761040 scopus 로고
    • Teratogens and craniofacial malformations: Relationships to cell death
    • Sulik KK, Cook CS, Webster WS. Teratogens and craniofacial malformations: Relationships to cell death. Development 1988: 103: 213-232.
    • (1988) Development , vol.103 , pp. 213-232
    • Sulik, K.K.1    Cook, C.S.2    Webster, W.S.3
  • 36
    • 0021323426 scopus 로고
    • Maternal hyperphenylalaninemia fetal effects
    • Lipson A, Beuhler B, Bartley J et al. Maternal hyperphenylalaninemia fetal effects. J Pediatr 1984: 104: 216-220.
    • (1984) J Pediatr , vol.104 , pp. 216-220
    • Lipson, A.1    Beuhler, B.2    Bartley, J.3
  • 37
    • 33645128921 scopus 로고    scopus 로고
    • Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
    • Sanlaville D, Etchevers HC, Gonzales M et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 2006: 43: 211-317.
    • (2006) J Med Genet , vol.43 , pp. 211-317
    • Sanlaville, D.1    Etchevers, H.C.2    Gonzales, M.3
  • 38
    • 33645781251 scopus 로고    scopus 로고
    • CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene
    • Jongmans M, Admiraal R, van der Donk K et al. CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 2006: 43: 306-314.
    • (2006) J Med Genet , vol.43 , pp. 306-314
    • Jongmans, M.1    Admiraal, R.2    van der Donk, K.3
  • 39
    • 31544463054 scopus 로고    scopus 로고
    • Spectrum of CHD7 Mutations in 110 Individuals with CHARGE syndrome and genotype-phenotype correlation
    • Lalani SR, Safiullah AM, Fernbach SD et al. Spectrum of CHD7 Mutations in 110 Individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006: 78: 303-314.
    • (2006) Am J Hum Genet. , vol.78 , pp. 303-314
    • Lalani, S.R.1    Safiullah, A.M.2    Fernbach, S.D.3
  • 40
    • 4444239112 scopus 로고    scopus 로고
    • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
    • Vissers LE, van Ravenswaaij CM, Admiraal R et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004: 36: 955-957.
    • (2004) Nat Genet , vol.36 , pp. 955-957
    • Vissers, L.E.1    van Ravenswaaij, C.M.2    Admiraal, R.3
  • 41
    • 0031595103 scopus 로고    scopus 로고
    • Chromo-domain proteins: Linking chromatin structure to epigenetic regulation
    • Cavalli G, Paro R. Chromo-domain proteins: Linking chromatin structure to epigenetic regulation. Curr Opin Cell Biol 1998: 10: 354-360.
    • (1998) Curr Opin Cell Biol , vol.10 , pp. 354-360
    • Cavalli, G.1    Paro, R.2
  • 42
    • 0028881136 scopus 로고
    • Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
    • Robin NH, Feldman GJ, Aronson AL et al. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet 1995: 11: 459-461.
    • (1995) Nat Genet , vol.11 , pp. 459-461
    • Robin, N.H.1    Feldman, G.J.2    Aronson, A.L.3
  • 43
    • 0023522709 scopus 로고
    • G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome) -perspective in 1987 and bibliography
    • Opitz JM G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome) -perspective in 1987 and bibliography. Am J Med Genet 1987: 28(2): 275-85.
    • (1987) Am J Med Genet , vol.28 , Issue.2 , pp. 275-285
    • Opitz, J.M.1
  • 44
    • 0029148704 scopus 로고
    • Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion
    • McDonald-McGinn DM, Driscoll DA, Bason L et al. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 1995: 59: 103-113.
    • (1995) Am J Med Genet , vol.59 , pp. 103-113
    • McDonald-McGinn, D.M.1    Driscoll, D.A.2    Bason, L.3
  • 45
    • 0029925662 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome
    • Fryburg JS, Lin KY, Golden WL. Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genet 1996: 62: 274-275.
    • (1996) Am J Med Genet , vol.62 , pp. 274-275
    • Fryburg, J.S.1    Lin, K.Y.2    Golden, W.L.3
  • 46
    • 0345193776 scopus 로고    scopus 로고
    • Opitz GBBB syndrome and the 22q11.2 deletion
    • Lacassie Y, Arriaza MI. Opitz GBBB syndrome and the 22q11.2 deletion. Am J Med Genet 1996: 62: 318.
    • (1996) Am J Med Genet , vol.62 , pp. 318
    • Lacassie, Y.1    Arriaza, M.I.2
  • 49
    • 0032567995 scopus 로고    scopus 로고
    • VACTERL with hydrocephalus: Family with X-linked VACTERL-H
    • Lomas FE, Dahlstrom JE, Ford JH. VACTERL with hydrocephalus: Family with X-linked VACTERL-H. Am J Med Genet 1998: 76: 74-78.
    • (1998) Am J Med Genet , vol.76 , pp. 74-78
    • Lomas, F.E.1    Dahlstrom, J.E.2    Ford, J.H.3
  • 50
    • 23344449113 scopus 로고    scopus 로고
    • Should chromosome breakage studies be performed in patients with VACTERL association?
    • Faivre L, Portnoi MF, Pals G et al. Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A 2005: 137: 55-58.
    • (2005) Am J Med Genet A , vol.137 , pp. 55-58
    • Faivre, L.1    Portnoi, M.F.2    Pals, G.3
  • 51
    • 33749252180 scopus 로고    scopus 로고
    • Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome
    • Holden ST, Cox JJ, Kesterton I et al. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome. J Med Genet 2006: 43: 750-754.
    • (2006) J Med Genet , vol.43 , pp. 750-754
    • Holden, S.T.1    Cox, J.J.2    Kesterton, I.3
  • 52
    • 3142666855 scopus 로고    scopus 로고
    • Relation between oculoauriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)
    • Kallen K, Robert E, Castilla EE et al. Relation between oculoauriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). Am J Med Genet A 2004: 127: 26-34.
    • (2004) Am J Med Genet A , vol.127 , pp. 26-34
    • Kallen, K.1    Robert, E.2    Castilla, E.E.3
  • 53
    • 0029146483 scopus 로고
    • Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum
    • Sutphen R, Galan-Gomez E, Cortada X et al. Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum. Clin Genet 1995: 48: 66-71.
    • (1995) Clin Genet , vol.48 , pp. 66-71
    • Sutphen, R.1    Galan-Gomez, E.2    Cortada, X.3
  • 54
    • 32144453649 scopus 로고    scopus 로고
    • Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum
    • Fischer S, Ludecke HJ, Wieczorek D et al. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet 2006: 15: 581-587.
    • (2006) Hum Mol Genet , vol.15 , pp. 581-587
    • Fischer, S.1    Ludecke, H.J.2    Wieczorek, D.3
  • 55
    • 0028020019 scopus 로고
    • Bartsocas-Papas syndrome with internal anomalies: Evidence for a more generalized epithelial defect or new syndrome?
    • Hennekam RC, Huber J, Variend D. Bartsocas-Papas syndrome with internal anomalies: Evidence for a more generalized epithelial defect or new syndrome? Am J Med Genet 1994: 53: 102-107.
    • (1994) Am J Med Genet , vol.53 , pp. 102-107
    • Hennekam, R.C.1    Huber, J.2    Variend, D.3
  • 56
    • 0024515683 scopus 로고
    • Fryns syndrome: Report on 8 new cases
    • Ayme S, Julian C, Gambarelli D et al. Fryns syndrome: Report on 8 new cases. Clin Genet 1989: 35: 191-201.
    • (1989) Clin Genet , vol.35 , pp. 191-201
    • Ayme, S.1    Julian, C.2    Gambarelli, D.3
  • 57
    • 19444369056 scopus 로고    scopus 로고
    • DNA repair disorders causing malformations
    • Hales BF. DNA repair disorders causing malformations. Curr Opin Genet Dev 2005: 15: 234-240.
    • (2005) Curr Opin Genet Dev , vol.15 , pp. 234-240
    • Hales, B.F.1
  • 58
    • 0032897761 scopus 로고    scopus 로고
    • Visceral anomalies in prenatally adriamycin-exposed rat fetuses: A model for the VATER association
    • Merei J, Hasthorpe S, Farmer P et al. Visceral anomalies in prenatally adriamycin-exposed rat fetuses: A model for the VATER association. Pediatr Surg Int 1999: 15: 11-16.
    • (1999) Pediatr Surg Int , vol.15 , pp. 11-16
    • Merei, J.1    Hasthorpe, S.2    Farmer, P.3
  • 59
    • 17144437268 scopus 로고    scopus 로고
    • Genetic toxicities of human teratogens
    • Bishop JB, Witt KL, Sloane RA. Genetic toxicities of human teratogens. Mutat Res 1997: 396: 9-43.
    • (1997) Mutat Res , vol.396 , pp. 9-43
    • Bishop, J.B.1    Witt, K.L.2    Sloane, R.A.3
  • 60
    • 0031565928 scopus 로고    scopus 로고
    • Oxidative damage in chemical teratogenesis
    • Wells PG, Kim PM, Laposa RR et al. Oxidative damage in chemical teratogenesis. Mutat Res 1997: 396: 65-78.
    • (1997) Mutat Res , vol.396 , pp. 65-78
    • Wells, P.G.1    Kim, P.M.2    Laposa, R.R.3
  • 61
    • 0029777408 scopus 로고    scopus 로고
    • Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
    • Chiang C, Litingtung Y, Lee E et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 1996: 383: 407-413.
    • (1996) Nature , vol.383 , pp. 407-413
    • Chiang, C.1    Litingtung, Y.2    Lee, E.3
  • 62
    • 0031711075 scopus 로고    scopus 로고
    • Sonic hedgehog is essential to foregut development
    • Litingtung Y, Lei L, Westphal H, Chiang C. Sonic hedgehog is essential to foregut development. Nat Genet 1998: 20: 58-61.
    • (1998) Nat Genet , vol.20 , pp. 58-61
    • Litingtung, Y.1    Lei, L.2    Westphal, H.3    Chiang, C.4
  • 63
    • 0033916281 scopus 로고    scopus 로고
    • Hedgehog signals regulate multiple aspects of gastrointestinal development
    • Ramalho-Santos M, Melton DA, McMahon AP. Hedgehog signals regulate multiple aspects of gastrointestinal development. Development 2000: 127: 2763-2772.
    • (2000) Development , vol.127 , pp. 2763-2772
    • Ramalho-Santos, M.1    Melton, D.A.2    McMahon, A.P.3
  • 64
    • 0031683165 scopus 로고    scopus 로고
    • Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus
    • Motoyama J, Liu J, Mo R et al. Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat Genet 1998: 20: 54-57.
    • (1998) Nat Genet , vol.20 , pp. 54-57
    • Motoyama, J.1    Liu, J.2    Mo, R.3
  • 65
    • 0034945359 scopus 로고    scopus 로고
    • Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations
    • Mahlapuu M, Enerback S, Carlsson P. Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations. Development 2001: 128: 2397-2406.
    • (2001) Development , vol.128 , pp. 2397-2406
    • Mahlapuu, M.1    Enerback, S.2    Carlsson, P.3
  • 66
    • 0030578422 scopus 로고    scopus 로고
    • Targeted disruption of hoxc-4 causes esophageal defects and vertebral transformations
    • Boulet AM, Capecchi MR. Targeted disruption of hoxc-4 causes esophageal defects and vertebral transformations. Dev Biol 1996: 177: 232-249.
    • (1996) Dev Biol , vol.177 , pp. 232-249
    • Boulet, A.M.1    Capecchi, M.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.