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Volumn , Issue , 2008, Pages 115-131

Congenital anomalies and genetic associations in hirschsprung's disease

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EID: 48549090599     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-33935-9_9     Document Type: Chapter
Times cited : (11)

References (199)
  • 1
    • 11844260059 scopus 로고    scopus 로고
    • Fryn's syndrome with Hirschsprung disease: Support for possible neural crest involvement
    • Alkuraya FS, Lin AE, Irons MB, Kimonis VE (2005) Fryn's syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A 132:226-230
    • (2005) Am J Med Genet A , vol.132 , pp. 226-230
    • Alkuraya, F.S.1    Lin, A.E.2    Irons, M.B.3    Kimonis, V.E.4
  • 2
    • 0034764984 scopus 로고    scopus 로고
    • Hirschsprung disease, associated syndromes, and genetics: A review
    • Amiel J, Lyonnet S (2001) Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38:729-739
    • (2001) J Med Genet , vol.38 , pp. 729-739
    • Amiel, J.1    Lyonnet, S.2
  • 3
    • 0027219581 scopus 로고
    • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
    • Angrist M, Kauffman E, Slaugenhaupt S, et al (1993) A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet 4:351-356
    • (1993) Nat Genet , vol.4 , pp. 351-356
    • Angrist, M.1    Kauffman, E.2    Slaugenhaupt, S.3
  • 4
    • 0030292383 scopus 로고    scopus 로고
    • Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
    • Angrist M, Bolk S, Halushka M, Lapchak P, Chakravarti A (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient, Nat Genet 14:341-344
    • (1996) Nat Genet , vol.14 , pp. 341-344
    • Angrist, M.1    Bolk, S.2    Halushka, M.3    Lapchak, P.4    Chakravarti, A.5
  • 5
    • 0030070810 scopus 로고    scopus 로고
    • Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from non-inbred populations
    • Auricchio A, Casari G, Stalano A, Ballabio A (1996) Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from non-inbred populations, Hum Mol Genet 5:351-354
    • (1996) Hum Mol Genet , vol.5 , pp. 351-354
    • Auricchio, A.1    Casari, G.2    Stalano, A.3    Ballabio, A.4
  • 7
    • 0032717943 scopus 로고    scopus 로고
    • Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease
    • Aurora P, Wallis CE (1999) Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. Clin Dysmorphol 8:259-263
    • (1999) Clin Dysmorphol , vol.8 , pp. 259-263
    • Aurora, P.1    Wallis, C.E.2
  • 11
    • 0022448783 scopus 로고
    • "Partial trisomy 21 and 11" due to a paternal 11:22 translocation associated with Hirschsprung's disease
    • Beedgen B, Nutzenadel W, Querfeld U, Weiss-Wichert P (1986) "Partial trisomy 21 and 11" due to a paternal 11:22 translocation associated with Hirschsprung's disease. Eur J Pediatr 145:229-232
    • (1986) Eur J Pediatr , vol.145 , pp. 229-232
    • Beedgen, B.1    Nutzenadel, W.2    Querfeld, U.3    Weiss-Wichert, P.4
  • 13
    • 0038352261 scopus 로고    scopus 로고
    • Coupling genomics and human genetics to delineate basic mechanisms of development
    • Biesecker LG (2002) Coupling genomics and human genetics to delineate basic mechanisms of development. Genet Med 4[6 Suppl]:39S-42S
    • (2002) Genet Med , vol.4 , Issue.6 SUPPL.
    • Biesecker, L.G.1
  • 14
    • 84981776731 scopus 로고
    • Family study of Hirschsprung's disease
    • Bodian M, Carter CO (1963) Family study of Hirschsprung's disease. Ann Hum Genet 26:261-271
    • (1963) Ann Hum Genet , vol.26 , pp. 261-271
    • Bodian, M.1    Carter, C.O.2
  • 15
    • 0016169528 scopus 로고
    • The neurocristopathies, a unifying concept of disease arising in neural crest maldevelopment
    • Bolande RP (1974) The neurocristopathies, a unifying concept of disease arising in neural crest maldevelopment. Hum Pathol 5:409-429
    • (1974) Hum Pathol , vol.5 , pp. 409-429
    • Bolande, R.P.1
  • 17
    • 18544365991 scopus 로고    scopus 로고
    • Segregation at three loci explains familial and population risk in Hirschsprung disease
    • Bolk-Gabriel S, Salomon R, Pelet A, et al (2002) Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 1:89-93
    • (2002) Nat Genet , vol.1 , pp. 89-93
    • Bolk-Gabriel, S.1    Salomon, R.2    Pelet, A.3
  • 18
    • 0036488058 scopus 로고    scopus 로고
    • RMRP gene sequence analysis confirms a cartilagehair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
    • Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A (2002) RMRP gene sequence analysis confirms a cartilagehair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 61:146-151
    • (2002) Clin Genet , vol.61 , pp. 146-151
    • Bonafe, L.1    Schmitt, K.2    Eich, G.3    Giedion, A.4    Superti-Furga, A.5
  • 20
    • 0025944896 scopus 로고
    • A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus
    • Bottani A, Xie YG, Binkert F, Schnizel A (1991) A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus. Hum Genet 87:748-750
    • (1991) Hum Genet , vol.87 , pp. 748-750
    • Bottani, A.1    Xie, Y.G.2    Binkert, F.3    Schnizel, A.4
  • 23
    • 0007710387 scopus 로고    scopus 로고
    • Disorders and congenital malformations associated with Hirschsprung's disease
    • Holschneider AM, Puri P (eds), 3rd edn. Harwood, Amsterdam
    • Brown RA, Cywes C (2000) Disorders and congenital malformations associated with Hirschsprung's disease. In: Holschneider AM, Puri P (eds) Hirschsprung's disease, 3rd edn. Harwood, Amsterdam, pp 137-145
    • (2000) Hirschsprung's Disease , pp. 137-145
    • Brown, R.A.1    Cywes, C.2
  • 25
    • 0025269530 scopus 로고
    • Management of Hirschsprung's disease in children with trisomy 21
    • Caniano DA, Teitelbaum DH, Qualman SJ (1990) Management of Hirschsprung's disease in children with trisomy 21. Am J Surg 159:402-404
    • (1990) Am J Surg , vol.159 , pp. 402-404
    • Caniano, D.A.1    Teitelbaum, D.H.2    Qualman, S.J.3
  • 26
    • 0036788576 scopus 로고    scopus 로고
    • Genome-wide association study as well as the study of mouse models help to identify the interaction between RET and EDNRB pathways in Hirschsprung disease
    • Carrasquillo MM, McCallion AS, Puffenberger EG, Kaschuk CS, No N, Chakravarti A (2002) Genome-wide association study as well as the study of mouse models help to identify the interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32:237-244
    • (2002) Nat Genet , vol.32 , pp. 237-244
    • Carrasquillo, M.M.1    McCallion, A.S.2    Puffenberger, E.G.3    Kaschuk, C.S.4    No, N.5    Chakravarti, A.6
  • 27
    • 0025674343 scopus 로고
    • Aganglionosis: Associated anomalies
    • Cass D (1990) Aganglionosis: associated anomalies. J Paediatr Child Health 26:351-354
    • (1990) J Paediatr Child Health , vol.26 , pp. 351-354
    • Cass, D.1
  • 28
    • 0027102791 scopus 로고
    • Association of Hirschsprung's disease and Mullerian inhibiting substance deficiency
    • Cass DT, Hutson J (1992) Association of Hirschsprung's disease and Mullerian inhibiting substance deficiency. J Pediatr Surg 27:1596-1599
    • (1992) J Pediatr Surg , vol.27 , pp. 1596-1599
    • Cass, D.T.1    Hutson, J.2
  • 29
    • 0027965639 scopus 로고
    • DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene
    • Ceccherini I, Hofstra RM, Luo Y, et al (1994) DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9:3025-3029
    • (1994) Oncogene , vol.9 , pp. 3025-3029
    • Ceccherini, I.1    Hofstra, R.M.2    Luo, Y.3
  • 30
    • 0030029691 scopus 로고    scopus 로고
    • Endothelin receptor-mediated signaling in Hirschsprung disease
    • Chakravarti A (1996) Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Mol Genet 5:303-307
    • (1996) Hum Mol Genet , vol.5 , pp. 303-307
    • Chakravarti, A.1
  • 31
    • 0141988843 scopus 로고    scopus 로고
    • Analysis of SOX10 mutations identified in Waardenburg- Hirschsprung patients: Differential effects on target gene regulation
    • Chan KK, Wong CK, Lui VC, Tam PK, Sham MH (2003) Analysis of SOX10 mutations identified in Waardenburg- Hirschsprung patients: differential effects on target gene regulation. J Cell Biochem 90:573-585
    • (2003) J Cell Biochem , vol.90 , pp. 573-585
    • Chan, K.K.1    Wong, C.K.2    Lui, V.C.3    Tam, P.K.4    Sham, M.H.5
  • 32
    • 12944331415 scopus 로고    scopus 로고
    • Imperforate anus, Hirschsprung's disease, and trisomy 21: A rare combination
    • Clarke SA, Van der Avoirt A (1999) Imperforate anus, Hirschsprung's disease, and trisomy 21: a rare combination. J Pediatr Surg 34:1874
    • (1999) J Pediatr Surg , vol.34 , pp. 1874
    • Clarke, S.A.1    Van Der Avoirt, A.2
  • 33
    • 0024423140 scopus 로고
    • Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome
    • Clausen N, Andersson P, Tommerup N (1989) Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome. Acta Paediatr Scand 78:736-741
    • (1989) Acta Paediatr Scand , vol.78 , pp. 736-741
    • Clausen, N.1    Andersson, P.2    Tommerup, N.3
  • 34
    • 0019922754 scopus 로고
    • Hirschsprung's disease in a kindred: A possible clue to the genetics of the disease
    • Cohen I, Gadd MA (1982) Hirschsprung's disease in a kindred: a possible clue to the genetics of the disease. J Pediatr Surg 17:632-634
    • (1982) J Pediatr Surg , vol.17 , pp. 632-634
    • Cohen, I.1    Gadd, M.A.2
  • 36
    • 14444271831 scopus 로고    scopus 로고
    • Congenital central hypoventilation syndrome and Hirschsprung's disease
    • Croaker GD, Shi E, Simpson E, Cartmill T, Cass DT (1998) Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child 78:316-322
    • (1998) Arch Dis Child , vol.78 , pp. 316-322
    • Croaker, G.D.1    Shi, E.2    Simpson, E.3    Cartmill, T.4    Cass, D.T.5
  • 39
    • 0019997678 scopus 로고
    • Hirschsprung's disease and malrotation of the mid-gut. An uncommon association
    • de Bruyn R, Hall CM, Spitz L (1982) Hirschsprung's disease and malrotation of the mid-gut. An uncommon association. Br J Radiol 55:554-557
    • (1982) Br J Radiol , vol.55 , pp. 554-557
    • De Bruyn, R.1    Hall, C.M.2    Spitz, L.3
  • 40
    • 7344244286 scopus 로고    scopus 로고
    • Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
    • Doray B, Salomon R, Amiel J, et al (1998) Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease, Hum Mol Genet 7:1449-1452
    • (1998) Hum Mol Genet , vol.7 , pp. 1449-1452
    • Doray, B.1    Salomon, R.2    Amiel, J.3
  • 41
    • 0027423913 scopus 로고
    • Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families
    • Dudin AA, Rambaud-Cousson A (1993) Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families. Am J Med Genet 47:1083-1085
    • (1993) Am J Med Genet , vol.47 , pp. 1083-1085
    • Dudin, A.A.1    Rambaud-Cousson, A.2
  • 42
    • 0027972513 scopus 로고
    • Mutations of the RET proto-oncogene in Hirschsprung's disease
    • Edery P, Lyonnet S, Mulligan L, et al (1994) Mutations of the RET proto-oncogene in Hirschsprung's disease, Nature 367:378-380
    • (1994) Nature , vol.367 , pp. 378-380
    • Edery, P.1    Lyonnet, S.2    Mulligan, L.3
  • 47
    • 3843095221 scopus 로고    scopus 로고
    • The neural crest: Basic biology and clinical relationships in the craniofacial and enteric nervous systems
    • Farlie PG, McKeown SJ, Newgreen DF (2005) The neural crest: basic biology and clinical relationships in the craniofacial and enteric nervous systems. Birth Defects Res C Embryo Today 72:173-189
    • (2005) Birth Defects Res C Embryo Today , vol.72 , pp. 173-189
    • Farlie, P.G.1    McKeown, S.J.2    Newgreen, D.F.3
  • 48
    • 0018872760 scopus 로고
    • Autosomal dominant aniridia: Probable linkage to acid phosphatase-1 locus on chromosome 2
    • Ferrell RE, Chakravarti A, Hittner HM, Riccardi VM (1980) Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2. Proc Natl Acad Sci U S A 77:1580-1582
    • (1980) Proc Natl Acad Sci U S A , vol.77 , pp. 1580-1582
    • Ferrell, R.E.1    Chakravarti, A.2    Hittner, H.M.3    Riccardi, V.M.4
  • 49
    • 0016703026 scopus 로고
    • Anomalies of the urinary tract in Hirschsprung's Disease
    • Festen C (1975) Anomalies of the urinary tract in Hirschsprung's Disease. Z Kinderchir 17:376-380
    • (1975) Z Kinderchir , vol.17 , pp. 376-380
    • Festen, C.1
  • 51
    • 0035171642 scopus 로고    scopus 로고
    • Nonfixation of an atretic colon predicts Hirschsprung's disease
    • Fishman SJ, Islam S, Buonomo C, Nurko S (2001) Nonfixation of an atretic colon predicts Hirschsprung's disease. J Pediatr Surg 36:202-204
    • (2001) J Pediatr Surg , vol.36 , pp. 202-204
    • Fishman, S.J.1    Islam, S.2    Buonomo, C.3    Nurko, S.4
  • 52
    • 0029953533 scopus 로고    scopus 로고
    • Hirschsprung's disease, imperforate anus, and Down's syndrome: A case report
    • Flageole H, Fecteau A, Laberge JM, Guttman FM (1996) Hirschsprung's disease, imperforate anus, and Down's syndrome: a case report. J Pediatr Surg 31:759-760
    • (1996) J Pediatr Surg , vol.31 , pp. 759-760
    • Flageole, H.1    Fecteau, A.2    Laberge, J.M.3    Guttman, F.M.4
  • 53
    • 0025279087 scopus 로고
    • Assignment of the locus for Waardenburg syndrome type 1 to human chromosome 2q37 and possible homology to the splotch mouse
    • Foy C, Newton V, Wellesley D, Harris R, Read AP (1990) Assignment of the locus for Waardenburg syndrome type 1 to human chromosome 2q37 and possible homology to the splotch mouse. Am J Hum Genet 46:1017-1023
    • (1990) Am J Hum Genet , vol.46 , pp. 1017-1023
    • Foy, C.1    Newton, V.2    Wellesley, D.3    Harris, R.4    Read, A.P.5
  • 54
    • 0031896469 scopus 로고    scopus 로고
    • Goldberg-Shprintzen syndrome: Report of a new family and review of the literature
    • Fryer AE (1998) Goldberg-Shprintzen syndrome: report of a new family and review of the literature. Clin Dysmorphol 7:97-101
    • (1998) Clin Dysmorphol , vol.7 , pp. 97-101
    • Fryer, A.E.1
  • 55
    • 0030951798 scopus 로고    scopus 로고
    • Leukocyte adhesion - Structure and function of human leukocyte beta2-integrins and their cellular ligands
    • Gahmberg CG, Tolvanen M, Kotovuori P (1997) Leukocyte adhesion - structure and function of human leukocyte beta2-integrins and their cellular ligands. Eur J Biochem 245:215-232
    • (1997) Eur J Biochem , vol.245 , pp. 215-232
    • Gahmberg, C.G.1    Tolvanen, M.2    Kotovuori, P.3
  • 56
    • 0022393182 scopus 로고
    • Hirschsprung disease: A genetic study
    • Garver K, Law J, Garver B (1985) Hirschsprung disease: a genetic study. Clin Genet 28:503-508
    • (1985) Clin Genet , vol.28 , pp. 503-508
    • Garver, K.1    Law, J.2    Garver, B.3
  • 58
    • 0021325488 scopus 로고
    • Ileal atresia and long segment Hirschsprung's disease in a neonate
    • Gauderer M, Rothstein FC, Izant R (1984) Ileal atresia and long segment Hirschsprung's disease in a neonate. J Pediatr Surg 19:15-17
    • (1984) J Pediatr Surg , vol.19 , pp. 15-17
    • Gauderer, M.1    Rothstein, F.C.2    Izant, R.3
  • 59
    • 0029940557 scopus 로고    scopus 로고
    • Gene-targeting studies of mammalian behavior: Is it the mutation or the background genotype?
    • Gerlai R (1996) Gene-targeting studies of mammalian behavior: is it the mutation or the background genotype? Trends Neurosci 19:177-181
    • (1996) Trends Neurosci , vol.19 , pp. 177-181
    • Gerlai, R.1
  • 61
    • 0021732114 scopus 로고
    • A epidemiological study of Hirschsprung's disease
    • Goldberg E (1984) A epidemiological study of Hirschsprung's disease. Int J Epidemiol 13:479-485
    • (1984) Int J Epidemiol , vol.13 , pp. 479-485
    • Goldberg, E.1
  • 63
    • 0013940697 scopus 로고
    • Hirschsprung's disease and mongolism
    • Graivier L, Sieber WK (1966) Hirschsprung's disease and mongolism. Surgery 60:458-461
    • (1966) Surgery , vol.60 , pp. 458-461
    • Graivier, L.1    Sieber, W.K.2
  • 64
    • 7244255979 scopus 로고    scopus 로고
    • Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21
    • Gregory-Evans CY, Vieira H, Dalton R, Adams GG, Salt A, Gregory-Evans K (2004) Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet A 131:86-90
    • (2004) Am J Med Genet A , vol.131 , pp. 86-90
    • Gregory-Evans, C.Y.1    Vieira, H.2    Dalton, R.3    Adams, G.G.4    Salt, A.5    Gregory-Evans, K.6
  • 65
    • 0028917454 scopus 로고
    • Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome
    • Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M (1995) Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet 56:322-326
    • (1995) Am J Med Genet , vol.56 , pp. 322-326
    • Gross, A.1    Kunze, J.2    Maier, R.F.3    Stoltenburg-Didinger, G.4    Grimmer, I.5    Obladen, M.6
  • 66
    • 0026693599 scopus 로고
    • Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome
    • Guion-Almeida ML, Richieri-Costa A (1992) Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. Am J Med Genet 43:929-931
    • (1992) Am J Med Genet , vol.43 , pp. 929-931
    • Guion-Almeida, M.L.1    Richieri-Costa, A.2
  • 68
    • 0027982382 scopus 로고
    • Neurocristopathy in mother (ganglioneuroblastoma) and daughter (aganglionosis): Incidental or causal?
    • Hamel CJ, Severijnen RS, De Vaan GA (1994) Neurocristopathy in mother (ganglioneuroblastoma) and daughter (aganglionosis): incidental or causal? Genet Couns 5:303-305
    • (1994) Genet Couns , vol.5 , pp. 303-305
    • Hamel, C.J.1    Severijnen, R.S.2    De Vaan, G.A.3
  • 69
    • 0141565568 scopus 로고    scopus 로고
    • Hirschsprung's disease and imperforate anus in Pallister-Hall syndrome: A new association
    • Haynes JH, Bagwell CE (2003) Hirschsprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. J Pediatr Surg 38:1411-1412
    • (2003) J Pediatr Surg , vol.38 , pp. 1411-1412
    • Haynes, J.H.1    Bagwell, C.E.2
  • 70
    • 0000102639 scopus 로고
    • Triple mosaicism of the sex chromosomes in Turner syndrome and Hirschsprung's disease
    • Hayward MD, Cameron AH (1962) Triple mosaicism of the sex chromosomes in Turner syndrome and Hirschsprung's disease. Lancet 2:623
    • (1962) Lancet , vol.2 , pp. 623
    • Hayward, M.D.1    Cameron, A.H.2
  • 72
    • 0033366516 scopus 로고    scopus 로고
    • A loss-offunction mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction
    • Hofstra R, Valdenaire O, Arch E, et al (1999), A loss-offunction mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet 64:304-308
    • (1999) Am J Hum Genet , vol.64 , pp. 304-308
    • Hofstra, R.1    Valdenaire, O.2    Arch, E.3
  • 73
    • 0001783844 scopus 로고    scopus 로고
    • Hirschsprung's disease
    • Ashcraft KW, Holcomb GW, Murphy J-P (eds), 4th edn. Elsevier Saunders, Philadelphia
    • Holschneider AM, Ure BM (2003) Hirschsprung's disease. In: Ashcraft KW, Holcomb GW, Murphy J-P (eds) Pediatric surgery, 4th edn. Elsevier Saunders, Philadelphia, pp 453-468
    • (2003) Pediatric Surgery , pp. 453-468
    • Holschneider, A.M.1    Ure, B.M.2
  • 74
    • 8344285149 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome
    • Hou JW (2004) Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. J Formos Med Assoc 103:629-632
    • (2004) J Formos Med Assoc , vol.103 , pp. 629-632
    • Hou, J.W.1
  • 75
    • 4243198354 scopus 로고    scopus 로고
    • Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development
    • Hou L, Pavan WJ, Shin MK, Arnheiter H (2004) Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development. Development 131:3239-3247
    • (2004) Development , vol.131 , pp. 3239-3247
    • Hou, L.1    Pavan, W.J.2    Shin, M.K.3    Arnheiter, H.4
  • 76
    • 0033086332 scopus 로고    scopus 로고
    • A new syndrome: Heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs
    • Huang T, Elias ER, Mulliken JB, Kirse DJ, Holmes LB (1999) A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. Genet Med 1:104-108
    • (1999) Genet Med , vol.1 , pp. 104-108
    • Huang, T.1    Elias, E.R.2    Mulliken, J.B.3    Kirse, D.J.4    Holmes, L.B.5
  • 77
    • 0023751644 scopus 로고
    • Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: A new syndrome of defective neuronal migration
    • Hurst JA, Markiewicz M, Kumar D, Brett EM (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. J Med Genet 25:494-497
    • (1988) J Med Genet , vol.25 , pp. 494-497
    • Hurst, J.A.1    Markiewicz, M.2    Kumar, D.3    Brett, E.M.4
  • 78
    • 0022800108 scopus 로고
    • Additional anomalies in Hirschsprung's disease: An analysis based on a nationwide survey in Japan
    • Ikeda K, Goto S (1986) Additional anomalies in Hirschsprung's disease: an analysis based on a nationwide survey in Japan. Z Kinderchir 41:279-281
    • (1986) Z Kinderchir , vol.41 , pp. 279-281
    • Ikeda, K.1    Goto, S.2
  • 81
    • 0023712184 scopus 로고
    • A lesson in intestinal atresia
    • Jackman S, Brereton RJ (1988) A lesson in intestinal atresia. J Pediatr Surg 23:852-853
    • (1988) J Pediatr Surg , vol.23 , pp. 852-853
    • Jackman, S.1    Brereton, R.J.2
  • 83
    • 0027249413 scopus 로고
    • Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello-Carey or new syndrome?
    • Jespers A, Buntinx I, Melis K, Vaerenberg M, Janssens G (1993) Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome? Am J Med Genet 47:299-302
    • (1993) Am J Med Genet , vol.47 , pp. 299-302
    • Jespers, A.1    Buntinx, I.2    Melis, K.3    Vaerenberg, M.4    Janssens, G.5
  • 84
    • 15844365303 scopus 로고    scopus 로고
    • GDNF-induced activation of the RET protein tyrosine kinase is mediated by GDNFRalpha, a novel receptor for GDNF
    • Jing S, Wen D, Yu Y, et al (1996), GDNF-induced activation of the RET protein tyrosine kinase is mediated by GDNFRalpha, a novel receptor for GDNF. Cell 85:1113-1124
    • (1996) Cell , vol.85 , pp. 1113-1124
    • Jing, S.1    Wen, D.2    Yu, Y.3
  • 85
    • 84913936143 scopus 로고
    • Disorders and congenital malformations associated with Hirschsprung's disease
    • Holschneider AM (ed), 1st edn. Hipokrates-Verlag, Stuttgart
    • Kaiser G, Bettex M (1982) Disorders and congenital malformations associated with Hirschsprung's disease. In: Holschneider AM (ed) Hirschsprung's disease, 1st edn. Hipokrates-Verlag, Stuttgart, pp 49-53
    • (1982) Hirschsprung's Disease , pp. 49-53
    • Kaiser, G.1    Bettex, M.2
  • 86
    • 20244379129 scopus 로고    scopus 로고
    • Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
    • Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, et al (2005) Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 76:794-803
    • (2005) Am J Hum Genet , vol.76 , pp. 794-803
    • Kelsell, D.P.1    Norgett, E.E.2    Unsworth, H.3    Teh, M.T.4    Cullup, T.5
  • 88
    • 0023628887 scopus 로고
    • Gastrointestinal manifestations of the Sipple syndrome in children
    • Khan AH, Desjardins JG, Gregoire H, Seidman E (1987) Gastrointestinal manifestations of the Sipple syndrome in children. J Pediatr Surg 22:719-723
    • (1987) J Pediatr Surg , vol.22 , pp. 719-723
    • Khan, A.H.1    Desjardins, J.G.2    Gregoire, H.3    Seidman, E.4
  • 90
    • 0027436721 scopus 로고
    • Hirschsprung's disease: Three decades' experience at a single institution
    • Klein MD, Philippart AI (1993) Hirschsprung's disease: three decades' experience at a single institution. J Pediatr Surg 28:1291-1293
    • (1993) J Pediatr Surg , vol.28 , pp. 1291-1293
    • Klein, M.D.1    Philippart, A.I.2
  • 91
    • 0026145861 scopus 로고
    • Hirschsprung's disease associated with intestinal malrotation in an adult and a review of literature (in Japanese)
    • Ko S, Fujii H, Yamamoto K, Sado S, Yamamoto M, Nakano H (1991) Hirschsprung's disease associated with intestinal malrotation in an adult and a review of literature (in Japanese). Nippon Geka Gakkai Zasshi 92:469-472
    • (1991) Nippon Geka Gakkai Zasshi , vol.92 , pp. 469-472
    • Ko, S.1    Fujii, H.2    Yamamoto, K.3    Sado, S.4    Yamamoto, M.5    Nakano, H.6
  • 92
    • 0028436314 scopus 로고
    • Peripheral T cell lymphoma (immunoblastic type, HTLV-1 negative) associated with aganglionosis of the intestine
    • Kondo H, Harigaya K, Kurosu K, Yumoto N, Mikata A (1994) Peripheral T cell lymphoma (immunoblastic type, HTLV-1 negative) associated with aganglionosis of the intestine. Rinsho Ketsueki 35:495-500
    • (1994) Rinsho Ketsueki , vol.35 , pp. 495-500
    • Kondo, H.1    Harigaya, K.2    Kurosu, K.3    Yumoto, N.4    Mikata, A.5
  • 93
    • 0024576097 scopus 로고
    • Interstitial deletion of distal 13q associated with Hirschsprung's disease
    • Lamont MA, Fitchett M, Dennis NR (1989) Interstitial deletion of distal 13q associated with Hirschsprung's disease. J Med Genet 26:100-104
    • (1989) J Med Genet , vol.26 , pp. 100-104
    • Lamont, M.A.1    Fitchett, M.2    Dennis, N.R.3
  • 94
    • 0023317230 scopus 로고
    • Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease (in Polish)
    • Lankosz-Lauterbach J, Sanak M (1987) Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease (in Polish). Pediatr Pol 62:249-252
    • (1987) Pediatr Pol , vol.62 , pp. 249-252
    • Lankosz-Lauterbach, J.1    Sanak, M.2
  • 96
    • 0016677913 scopus 로고
    • Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: A case for fetoscopy
    • Laurence KM, Prosser R, Rocker I, Pearson JF, Richard C (1975) Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy. J Med Genet 12:334-338
    • (1975) J Med Genet , vol.12 , pp. 334-338
    • Laurence, K.M.1    Prosser, R.2    Rocker, I.3    Pearson, J.F.4    Richard, C.5
  • 98
    • 0033391115 scopus 로고    scopus 로고
    • Congenital colonic hypoganglionosis in murine trisomy 16 - An animal model for Down's syndrome
    • Leffler A, Wedel T, Busch LC (1999) Congenital colonic hypoganglionosis in murine trisomy 16 - an animal model for Down's syndrome. Eur J Pediatr Surg 9:381-388
    • (1999) Eur J Pediatr Surg , vol.9 , pp. 381-388
    • Leffler, A.1    Wedel, T.2    Busch, L.C.3
  • 100
    • 15844427598 scopus 로고    scopus 로고
    • Xp22.3 microdeletion including VCX-A and VCXB1 genes in an X-linked ichthyosis family: No difference in deletion size for patients with and without mental retardation
    • Lesca G, Sinilnikova O, Theuil G, Blanc J, Edery P, Till M (2005) Xp22.3 microdeletion including VCX-A and VCXB1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. Clin Genet 67:367-368
    • (2005) Clin Genet , vol.67 , pp. 367-368
    • Lesca, G.1    Sinilnikova, O.2    Theuil, G.3    Blanc, J.4    Edery, P.5    Till, M.6
  • 101
    • 0042867016 scopus 로고
    • Abnormal arteries in Hirschsprung's disease
    • Lister J (1966) Abnormal arteries in Hirschsprung's disease. Arch Dis Child 41:149
    • (1966) Arch Dis Child , vol.41 , pp. 149
    • Lister, J.1
  • 102
    • 8444239596 scopus 로고
    • Hirschsprung's disease
    • Rickham PP, Lister J, Irving IM (eds). Butterworth, London
    • Lister J, Rickham PP (1978) Hirschsprung's disease. In: Rickham PP, Lister J, Irving IM (eds) Neonatal surgery. Butterworth, London, pp 441-448
    • (1978) Neonatal Surgery , pp. 441-448
    • Lister, J.1    Rickham, P.P.2
  • 103
    • 9044231726 scopus 로고
    • Hirschsprung's disease
    • Lister J, Irving IM (eds), 3rd edn. Butterworth, London
    • Lister J, Tam PK (1990) Hirschsprung's disease. In: Lister J, Irving IM (eds) Neonatal surgery, 3rd edn. Butterworth, London, pp 523-546
    • (1990) Neonatal Surgery , pp. 523-546
    • Lister, J.1    Tam, P.K.2
  • 104
    • 0033987082 scopus 로고    scopus 로고
    • Situs inversus and Hirschsprung disease: Two uncommon manifestations in Bardet-Biedl syndrome
    • Lorda-Sanchez I, Ayuso C, Ibanez A (2000) Situs inversus and Hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. Am J Med Genet 90:80-81
    • (2000) Am J Med Genet , vol.90 , pp. 80-81
    • Lorda-Sanchez, I.1    Ayuso, C.2    Ibanez, A.3
  • 106
    • 0028215714 scopus 로고
    • Phenotypic variability of del(2) (q22-q23): Report of a case with a review of the literature
    • Lurie IW, Supovitz KR, Rosenblum-Vos LS, Wulfsberg EA (1994) Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. Genet Couns 5:11-14
    • (1994) Genet Couns , vol.5 , pp. 11-14
    • Lurie, I.W.1    Supovitz, K.R.2    Rosenblum-Vos, L.S.3    Wulfsberg, E.A.4
  • 108
  • 109
    • 0021229233 scopus 로고
    • Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature
    • Mahboubi S, Templeton JM Jr. (1984) Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature. Pediatr Radiol 14:441-442
    • (1984) Pediatr Radiol , vol.14 , pp. 441-442
    • Mahboubi, S.1    Templeton Jr., J.M.2
  • 110
    • 9644277156 scopus 로고    scopus 로고
    • Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect
    • Maka M, Stolt CC, Wegner M (2005) Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect. Dev Biol 277:155-169
    • (2005) Dev Biol , vol.277 , pp. 155-169
    • Maka, M.1    Stolt, C.C.2    Wegner, M.3
  • 111
    • 0027467736 scopus 로고
    • Cartilage-hair hypoplasia - Clinical manifestations in 108 Finnish patients
    • Makitie O, Kaitila I (1993) Cartilage-hair hypoplasia - clinical manifestations in 108 Finnish patients. Eur J Pediatr 152:211-217
    • (1993) Eur J Pediatr , vol.152 , pp. 211-217
    • Makitie, O.1    Kaitila, I.2
  • 112
    • 0036829540 scopus 로고    scopus 로고
    • Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis
    • Makitie O, Heikkinen M, Kaitila I, Rintala R (2002) Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. J Pediatr Surg 37:1585-1588
    • (2002) J Pediatr Surg , vol.37 , pp. 1585-1588
    • Makitie, O.1    Heikkinen, M.2    Kaitila, I.3    Rintala, R.4
  • 114
    • 0027268522 scopus 로고
    • Congenital muscular dystrophy with neurological abnormalities: Association with Hirschsprung disease
    • Mandel H, Brik R, Ludatscher R, Braun J, Berant M (1993) Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease. Am J Med Genet 47:37-40
    • (1993) Am J Med Genet , vol.47 , pp. 37-40
    • Mandel, H.1    Brik, R.2    Ludatscher, R.3    Braun, J.4    Berant, M.5
  • 117
    • 0032006819 scopus 로고    scopus 로고
    • Molecular cloning, expression and tissue distribution of glial-cellline- derived neurotrophic factor family receptor alpha-3 (GFRalpha-3)
    • Masure S, Cik M, Pangalos MN, Bonaventure P, Verhasselt P, Lesage AS, Leysen JE, Gordon RD (1998) Molecular cloning, expression and tissue distribution of glial-cellline- derived neurotrophic factor family receptor alpha-3 (GFRalpha-3). Eur J Biochem 251:622-630
    • (1998) Eur J Biochem , vol.251 , pp. 622-630
    • Masure, S.1    Cik, M.2    Pangalos, M.N.3    Bonaventure, P.4    Verhasselt, P.5    Lesage, A.S.6    Leysen, J.E.7    Gordon, R.D.8
  • 118
    • 0032545203 scopus 로고    scopus 로고
    • Anencephaly-associated aganglionosis
    • Mathew A (1998) Anencephaly-associated aganglionosis. Am J Med Genet 80:518-520
    • (1998) Am J Med Genet , vol.80 , pp. 518-520
    • Mathew, A.1
  • 120
    • 8044250046 scopus 로고
    • Anteroposterior differences within caudal hindbrain neural crest cell populations and the development of the enteric nervous system
    • Presented at the, Cleveland, Ohio, October 1995
    • Meijers C, Mulder M (1995) Anteroposterior differences within caudal hindbrain neural crest cell populations and the development of the enteric nervous system. Presented at the Second International Meeting: Hirschsprung Disease and Related Neurocristopathies, Cleveland, Ohio, October 1995
    • (1995) Second International Meeting: Hirschsprung Disease and Related Neurocristopathies
    • Meijers, C.1    Mulder, M.2
  • 121
    • 0023223756 scopus 로고
    • Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis
    • Meire F, Standaert L, De Laey JJ, Zeng LH (1987), Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. Am J Med Genet 27:683-686
    • (1987) Am J Med Genet , vol.27 , pp. 683-686
    • Meire, F.1    Standaert, L.2    De Laey, J.J.3    Zeng, L.H.4
  • 123
    • 0022271594 scopus 로고
    • Meningomyelocele and Hirschprung disease: Theoretical and clinical significance
    • Merkler RG, Solish SB, Scherzer AL (1985) Meningomyelocele and Hirschprung disease: theoretical and clinical significance. Pediatrics 76:299-300
    • (1985) Pediatrics , vol.76 , pp. 299-300
    • Merkler, R.G.1    Solish, S.B.2    Scherzer, A.L.3
  • 125
    • 0024993967 scopus 로고
    • Hirschsprung's disease in mentally retarded patients: A bad prognostic combination
    • Molander M-L (1990) Hirschsprung's disease in mentally retarded patients: a bad prognostic combination. Pediatr Surg Int 5:339-340
    • (1990) Pediatr Surg Int , vol.5 , pp. 339-340
    • Molander, M.-L.1
  • 127
    • 0031927502 scopus 로고    scopus 로고
    • Hirschsprung's disease: Genetic and functional associations of Down's and Waardenburg's syndromes
    • Moore SW, Johnson GA (1998) Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg's syndromes. Semin Pediatr Surg 7:156-161
    • (1998) Semin Pediatr Surg , vol.7 , pp. 156-161
    • Moore, S.W.1    Johnson, G.A.2
  • 128
    • 33645387146 scopus 로고    scopus 로고
    • Combined associations of RET and EDNRB in sporadic Hirschsprung's disease: Evaluation of 2-locus genetic associations
    • Presented at the, Sestri Levante, Italy, April
    • Moore SW, Zaahl M (2004) Combined associations of RET and EDNRB in sporadic Hirschsprung's disease: evaluation of 2-locus genetic associations. Presented at the 4th International Meeting: Hirschsprung Disease and Related Neurocristopathies, Sestri Levante, Italy, April
    • (2004) 4th International Meeting: Hirschsprung Disease and Related Neurocristopathies
    • Moore, S.W.1    Zaahl, M.2
  • 131
    • 0031853185 scopus 로고    scopus 로고
    • Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
    • Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Ades LC, Chia NL, Wilson MJ (1998) Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 35:617-623
    • (1998) J Med Genet , vol.35 , pp. 617-623
    • Mowat, D.R.1    Croaker, G.D.2    Cass, D.T.3    Kerr, B.A.4    Chaitow, J.5    Ades, L.C.6    Chia, N.L.7    Wilson, M.J.8
  • 134
    • 0031565852 scopus 로고    scopus 로고
    • Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma
    • Ohnuma K, Imaizumi K, Masuno M, Nakamura M, Kuroki Y (1997) Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma. Am J Med Genet 73:230-232
    • (1997) Am J Med Genet , vol.73 , pp. 230-232
    • Ohnuma, K.1    Imaizumi, K.2    Masuno, M.3    Nakamura, M.4    Kuroki, Y.5
  • 135
    • 0030738352 scopus 로고    scopus 로고
    • Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM
    • Okamoto N, Wada Y, Goto M (1997) Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. J Med Genet 34:670-671
    • (1997) J Med Genet , vol.34 , pp. 670-671
    • Okamoto, N.1    Wada, Y.2    Goto, M.3
  • 136
    • 0018580605 scopus 로고
    • The association of Waardenburg syndrome and Hirschsprung's megacolon
    • Omenn GS, McKusick VA (1979), The association of Waardenburg syndrome and Hirschsprung's megacolon. Am J Med Genet 3:217-223
    • (1979) Am J Med Genet , vol.3 , pp. 217-223
    • Omenn, G.S.1    McKusick, V.A.2
  • 137
    • 0842323930 scopus 로고    scopus 로고
    • Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: A survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
    • Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V (2004) Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet 12:16-23
    • (2004) Eur J Hum Genet , vol.12 , pp. 16-23
    • Orrico, A.1    Galli, L.2    Cavaliere, M.L.3    Garavelli, L.4    Fryns, J.P.5    Crushell, E.6    Rinaldi, M.M.7    Medeira, A.8    Sorrentino, V.9
  • 139
    • 0014210694 scopus 로고
    • The genetics of Hirschsprung's disease
    • Passarge E (1967) The genetics of Hirschsprung's disease. N Engl J Med 276:138-143
    • (1967) N Engl J Med , vol.276 , pp. 138-143
    • Passarge, E.1
  • 140
    • 0036578787 scopus 로고    scopus 로고
    • Dissecting Hirschsprung disease
    • Passarge E (2002) Dissecting Hirschsprung disease. Nat Genet 1:11-12
    • (2002) Nat Genet , vol.1 , pp. 11-12
    • Passarge, E.1
  • 142
    • 0020961517 scopus 로고
    • Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome
    • Patterson K, Toomey KE, Chandra RS (1983) Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr 103:425-427
    • (1983) J Pediatr , vol.103 , pp. 425-427
    • Patterson, K.1    Toomey, K.E.2    Chandra, R.S.3
  • 144
    • 0031017089 scopus 로고    scopus 로고
    • Human homology and candidate genes for the dominant megacolon locus, a mouse model of Hirschsprung disease
    • Pingault V, Puliti A, Prehu M-O, Samadi A, Bondurand N, Goossens M (1997) Human homology and candidate genes for the dominant megacolon locus, a mouse model of Hirschsprung disease, Genomics 39:86-89
    • (1997) Genomics , vol.39 , pp. 86-89
    • Pingault, V.1    Puliti, A.2    Prehu, M.-O.3    Samadi, A.4    Bondurand, N.5    Goossens, M.6
  • 146
    • 0023036805 scopus 로고
    • Hirschsprung's disease in the newborn
    • Polley TZ, Coran AG (1986) Hirschsprung's disease in the newborn. Pediatr Surg Int 1:80-83
    • (1986) Pediatr Surg Int , vol.1 , pp. 80-83
    • Polley, T.Z.1    Coran, A.G.2
  • 147
    • 4344585271 scopus 로고    scopus 로고
    • Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18
    • Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR (2004) Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Ann Genet 47:297-303
    • (2004) Ann Genet , vol.47 , pp. 297-303
    • Prabhakara, K.1    Wyandt, H.E.2    Huang, X.L.3    Prasad, K.S.4    Ramadevi, A.R.5
  • 148
    • 0028069130 scopus 로고
    • Identityby- descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
    • Puffenberger E, Kauffman E, Bolk S, et al (1994) Identityby- descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet 3:1217-1225
    • (1994) Hum Mol Genet , vol.3 , pp. 1217-1225
    • Puffenberger, E.1    Kauffman, E.2    Bolk, S.3
  • 149
    • 0028358232 scopus 로고
    • The influence of trisomy 21 on outcome in children with Hirschsprung's disease
    • Quinn FM, Surana R, Puri P (1994) The influence of trisomy 21 on outcome in children with Hirschsprung's disease. J Pediatr Surg 29:781-783
    • (1994) J Pediatr Surg , vol.29 , pp. 781-783
    • Quinn, F.M.1    Surana, R.2    Puri, P.3
  • 150
    • 0037980044 scopus 로고    scopus 로고
    • Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former
    • Rakheja D, Wilson GN, Rogers BB (2003) Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. Pediatr Dev Pathol 6:270-277
    • (2003) Pediatr Dev Pathol , vol.6 , pp. 270-277
    • Rakheja, D.1    Wilson, G.N.2    Rogers, B.B.3
  • 151
    • 0033916281 scopus 로고    scopus 로고
    • Hedgehog signals regulate multiple aspects of gastrointestinal development
    • Ramalho-Santos M, Melton DA, McMahon AP (2000) Hedgehog signals regulate multiple aspects of gastrointestinal development. Development 127:2763-2772
    • (2000) Development , vol.127 , pp. 2763-2772
    • Ramalho-Santos, M.1    Melton, D.A.2    McMahon, A.P.3
  • 152
    • 0029682809 scopus 로고    scopus 로고
    • Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas
    • Raskind WH, Conrad EU, Matsushita M (1996) Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas. Genes Chromosomes Cancer 16:138-143
    • (1996) Genes Chromosomes Cancer , vol.16 , pp. 138-143
    • Raskind, W.H.1    Conrad, E.U.2    Matsushita, M.3
  • 153
    • 0031036378 scopus 로고    scopus 로고
    • Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): New X-linked syndrome?
    • Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA (1997) Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome? Am J Med Genet 68:386-390
    • (1997) Am J Med Genet , vol.68 , pp. 386-390
    • Reish, O.1    Gorlin, R.J.2    Hordinsky, M.3    Rest, E.B.4    Burke, B.5    Berry, S.A.6
  • 155
    • 0028087876 scopus 로고
    • Phenotypic diversity, allelic series and modifier genes
    • Romeo G, McKusick V (1994) Phenotypic diversity, allelic series and modifier genes. Nat Genet 7:451-453
    • (1994) Nat Genet , vol.7 , pp. 451-453
    • Romeo, G.1    McKusick, V.2
  • 156
    • 0028120882 scopus 로고
    • Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
    • Romeo G, Ronchetto P, Luo Y, et al (1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367:377-378
    • (1994) Nature , vol.367 , pp. 377-378
    • Romeo, G.1    Ronchetto, P.2    Luo, Y.3
  • 160
    • 0023834887 scopus 로고
    • Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: A new autosomal recessive syndrome
    • Santos H, Mateus J, Leal MJ (1988) Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. J Med Genet 25:204-205
    • (1988) J Med Genet , vol.25 , pp. 204-205
    • Santos, H.1    Mateus, J.2    Leal, M.J.3
  • 162
    • 0344530386 scopus 로고    scopus 로고
    • Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: Further ophthalmologic delineation of the renal-coloboma syndrome
    • Schimmenti LA, Manligas GS, Sieving PA (2003) Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet 24:191-202
    • (2003) Ophthalmic Genet , vol.24 , pp. 191-202
    • Schimmenti, L.A.1    Manligas, G.S.2    Sieving, P.A.3
  • 163
    • 0000046769 scopus 로고
    • Aganglionic megacolon, phaeochromocytoma, megaloureter and neurofibromatosis
    • Schocket E, Telok HA (1957) Aganglionic megacolon, phaeochromocytoma, megaloureter and neurofibromatosis. Am J Dis Child 94:185-191
    • (1957) Am J Dis Child , vol.94 , pp. 185-191
    • Schocket, E.1    Telok, H.A.2
  • 164
    • 0038010599 scopus 로고    scopus 로고
    • Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome
    • Schocket LS, Beaverson KL, Rollins I, Abramson D (2003) Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome. Arch Ophthalmol 121:916-917
    • (2003) Arch Ophthalmol , vol.121 , pp. 916-917
    • Schocket, L.S.1    Beaverson, K.L.2    Rollins, I.3    Abramson, D.4
  • 165
    • 0019406679 scopus 로고
    • White forelock, pigmentary disorder of irides and long segment Hirschsprung's disease: Possible variant of Waardenburg syndrome
    • Shah KN, Dalal SJ, Desai MP (1981) White forelock, pigmentary disorder of irides and long segment Hirschsprung's disease: possible variant of Waardenburg syndrome, J Pediatr 99:432-435
    • (1981) J Pediatr , vol.99 , pp. 432-435
    • Shah, K.N.1    Dalal, S.J.2    Desai, M.P.3
  • 166
    • 0037699808 scopus 로고    scopus 로고
    • Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease
    • Shahar E, Shinawi M (2003) Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease. Pediatr Neurol 28:385-391
    • (2003) Pediatr Neurol , vol.28 , pp. 385-391
    • Shahar, E.1    Shinawi, M.2
  • 167
    • 0344919875 scopus 로고
    • Hirschsprung's disease
    • Welch KJ, Randolph JG, Ravitch MM (eds). Year Book, Chicago
    • Sieber WK (1986) Hirschsprung's disease. In: Welch KJ, Randolph JG, Ravitch MM (eds) Pediatric surgery. Year Book, Chicago, pp 995-1020
    • (1986) Pediatric Surgery , pp. 995-1020
    • Sieber, W.K.1
  • 169
    • 0036254880 scopus 로고    scopus 로고
    • Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene
    • Slaugenhaupt SA (2002) Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene. Clin Auton Res 12 [Suppl 1]:I15-19
    • (2002) Clin Auton Res , vol.12 , Issue.SUPPL. 1
    • Slaugenhaupt, S.A.1
  • 170
    • 0034722869 scopus 로고    scopus 로고
    • Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review
    • Slavotinek AM, Biesecker LG (2000) Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review. Am J Med Genet 95:208-215
    • (2000) Am J Med Genet , vol.95 , pp. 208-215
    • Slavotinek, A.M.1    Biesecker, L.G.2
  • 172
    • 0021722228 scopus 로고
    • Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)
    • Sparkes RS, Sparkes MC, Kalina RE, Pagon RA, Salk DJ, Disteche CM (1984) Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). Hum Genet 68:258-259
    • (1984) Hum Genet , vol.68 , pp. 258-259
    • Sparkes, R.S.1    Sparkes, M.C.2    Kalina, R.E.3    Pagon, R.A.4    Salk, D.J.5    Disteche, C.M.6
  • 173
    • 0021970463 scopus 로고
    • Hirschsprung's disease in a large birth cohort
    • Spouge D, Baird PA (1985) Hirschsprung's disease in a large birth cohort. Teratology 32:171-177
    • (1985) Teratology , vol.32 , pp. 171-177
    • Spouge, D.1    Baird, P.A.2
  • 176
    • 8044222559 scopus 로고
    • Follow up of 200 patients treated for Hirschsprung's disease during a 10 year period
    • Swenson O (1957) Follow up of 200 patients treated for Hirschsprung's disease during a 10 year period. Ann Surg 146:706-714
    • (1957) Ann Surg , vol.146 , pp. 706-714
    • Swenson, O.1
  • 177
    • 0012905499 scopus 로고
    • Hirschsprung's disease
    • Raffensberger JG (ed), 5th edn. Appleton and Lange, New York
    • Swenson O, Raffensberger JG (1990) Hirschsprung's disease. In: Raffensberger JG (ed) Swenson's paediatric surgery, 5th edn. Appleton and Lange, New York, pp 555-578
    • (1990) Swenson's Paediatric Surgery , pp. 555-578
    • Swenson, O.1    Raffensberger, J.G.2
  • 178
    • 0021831732 scopus 로고
    • The association of imperforate anus and Hirschsprung's disease in siblings
    • Takada Y, Aoyama K, Goto T, Mori S (1985) The association of imperforate anus and Hirschsprung's disease in siblings. J Pediatr Surg 20:271-273
    • (1985) J Pediatr Surg , vol.20 , pp. 271-273
    • Takada, Y.1    Aoyama, K.2    Goto, T.3    Mori, S.4
  • 179
    • 0029026103 scopus 로고
    • The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall
    • Takahashi T, Nowakowski RS, Caviness VS Jr. (1995) The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall. J Neurosci 15:6046-6057
    • (1995) J Neurosci , vol.15 , pp. 6046-6057
    • Takahashi, T.1    Nowakowski, R.S.2    Caviness Jr., V.S.3
  • 180
    • 0034888891 scopus 로고    scopus 로고
    • Radial glia is a progenitor of neocortical neurons in the developing cerebral cortex
    • Tamamaki N, Nakamura K, Okamoto K, Kaneko T (2001) Radial glia is a progenitor of neocortical neurons in the developing cerebral cortex. Neurosci Res 41:51-60
    • (2001) Neurosci Res , vol.41 , pp. 51-60
    • Tamamaki, N.1    Nakamura, K.2    Okamoto, K.3    Kaneko, T.4
  • 181
    • 15844418441 scopus 로고    scopus 로고
    • Characterisation of a multicomponent receptor for GDNF
    • Treanor J, Goodman L, de Sauvage F, et al (1996) Characterisation of a multicomponent receptor for GDNF. Nature 382:80-83
    • (1996) Nature , vol.382 , pp. 80-83
    • Treanor, J.1    Goodman, L.2    De Sauvage, F.3
  • 184
    • 6044259210 scopus 로고    scopus 로고
    • Primary granule release from human neutrophils is potentiated by soluble fibrinogen through a mechanism depending on multiple intracellular signaling pathways
    • Tuluc F, Garcia A, Bredetean O, Meshki J, Kunapuli SP (2004) Primary granule release from human neutrophils is potentiated by soluble fibrinogen
    • (2004) Am J Physiol Cell Physiol , vol.287
    • Tuluc, F.1    Garcia, A.2    Bredetean, O.3    Meshki, J.4    Kunapuli, S.P.5
  • 185
    • 0347123258 scopus 로고    scopus 로고
    • Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
    • Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB (2004) Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet A 124:274-279
    • (2004) Am J Med Genet A , vol.124 , pp. 274-279
    • Venditti, C.P.1    Hunt, P.2    Donnenfeld, A.3    Zackai, E.4    Spinner, N.B.5
  • 190
    • 0023873321 scopus 로고
    • Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3:7)(p21:q22)
    • Webb GC, Keith CG, Campbell NT (1988) Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3:7)(p21:q22). J Med Genet 25:125-127
    • (1988) J Med Genet , vol.25 , pp. 125-127
    • Webb, G.C.1    Keith, C.G.2    Campbell, N.T.3
  • 191
    • 0032557728 scopus 로고    scopus 로고
    • Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13
    • Weigel BJ, Pierpont ME, Young TL, Mutchler SB, Neglia JP (1998) Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. Am J Med Genet 77:285-288
    • (1998) Am J Med Genet , vol.77 , pp. 285-288
    • Weigel, B.J.1    Pierpont, M.E.2    Young, T.L.3    Mutchler, S.B.4    Neglia, J.P.5
  • 192
    • 0017673097 scopus 로고
    • Hirschsprung's disease and congenital deafness
    • Weinberg AG, Currarino G, Besserman M (1977) Hirschsprung's disease and congenital deafness. Hum Genet 38:157-161
    • (1977) Hum Genet , vol.38 , pp. 157-161
    • Weinberg, A.G.1    Currarino, G.2    Besserman, M.3
  • 194
    • 0032570866 scopus 로고    scopus 로고
    • Signal transduction pathways activated by RET oncoproteins in PC12 pheochromocytoma cells
    • Xing S, Furminger TL, Tong Q, Jhiang SM (1998) Signal transduction pathways activated by RET oncoproteins in PC12 pheochromocytoma cells. J Biol Chem 273:4909-4914
    • (1998) J Biol Chem , vol.273 , pp. 4909-4914
    • Xing, S.1    Furminger, T.L.2    Tong, Q.3    Jhiang, S.M.4
  • 195
    • 0036740185 scopus 로고    scopus 로고
    • Shah-Waardenburg syndrome and Dandy-Walker malformation: An autopsy report
    • Yoder BJ, Prayson RA (2002) Shah-Waardenburg syndrome and Dandy-Walker malformation: an autopsy report. Clin Neuropathol 21:236-240
    • (2002) Clin Neuropathol , vol.21 , pp. 236-240
    • Yoder, B.J.1    Prayson, R.A.2
  • 196
    • 0025991379 scopus 로고
    • Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs
    • Yomo A, Taira T, Kondo I (1991) Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. Am J Med Genet 41:188-191
    • (1991) Am J Med Genet , vol.41 , pp. 188-191
    • Yomo, A.1    Taira, T.2    Kondo, I.3
  • 198
    • 0037291480 scopus 로고    scopus 로고
    • Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: Predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome
    • Zaahl MG, du Plessis L, Warnich L, Kotze MJ, Moore SW (2003) Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: Predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Mol Cell Probes 17:49-54
    • (2003) Mol Cell Probes , vol.17 , pp. 49-54
    • Zaahl, M.G.1    Du Plessis, L.2    Warnich, L.3    Kotze, M.J.4    Moore, S.W.5
  • 199
    • 0028174023 scopus 로고
    • Defects in the kidney and enteric system of mice lacking the tyrosine-kinase receptor ret
    • Schuchardt A, D'Agati, Larsson-Blomberg L, Constanini F, Pachnis V. Defects in the kidney and enteric system of mice lacking the tyrosine-kinase receptor ret. Nature 1994; 367:380-383.
    • (1994) Nature , vol.367 , pp. 380-383
    • Schuchardt, A.1    D'Agati2    Larsson-Blomberg, L.3    Constanini, F.4    Pachnis, V.5


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