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Volumn 12, Issue 1, 1997, Pages 2-10

Hirschsprung's disease as a neurochristopathy

Author keywords

Hirschsprung's disease; Neurocristopathies; RET proto oncogene

Indexed keywords

ARTICLE; GENE MUTATION; HIRSCHSPRUNG DISEASE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; MOLECULAR GENETICS; PRIORITY JOURNAL;

EID: 8044243612     PISSN: 01790358     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01194793     Document Type: Article
Times cited : (20)

References (74)
  • 5
    • 0025037703 scopus 로고
    • Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene
    • Badner JA, Chakravarti A (1990) Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. Am J Med Genet 35: 100-104
    • (1990) Am J Med Genet , vol.35 , pp. 100-104
    • Badner, J.A.1    Chakravarti, A.2
  • 7
    • 0017900519 scopus 로고
    • Heterogeneity in Waardenburg's syndrome
    • Bard LA (1978) Heterogeneity in Waardenburg's syndrome. Arch Ophthalmol 96: 1193-1198
    • (1978) Arch Ophthalmol , vol.96 , pp. 1193-1198
    • Bard, L.A.1
  • 8
    • 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
  • 9
    • 0019749883 scopus 로고
    • Neurofibromatosis. The quintessential neurocristopathy: Pathogenetic concepts and relationships
    • Riccardi VM, Mulvihill JJ (eds) Raven Press. New York
    • Bolande RP (1981) Neurofibromatosis. The quintessential neurocristopathy: pathogenetic concepts and relationships. In: Riccardi VM, Mulvihill JJ (eds) Advances in neurology: neurofibromatosis (von Recklinghausen disease). Raven Press. New York, pp 67-75
    • (1981) Advances in Neurology: Neurofibromatosis (von Recklinghausen Disease) , pp. 67-75
    • Bolande, R.P.1
  • 11
    • 0028916234 scopus 로고
    • Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease
    • Borst MJ, VanCamp JM, Peacock ML, Decker RA (1995) Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. Surgery 117: 386-391
    • (1995) Surgery , vol.117 , pp. 386-391
    • Borst, M.J.1    VanCamp, J.M.2    Peacock, M.L.3    Decker, R.A.4
  • 12
    • 0018972045 scopus 로고
    • Ondine's curse and neurocristopathy
    • Bower RJ, Adkins JC (1980) Ondine's curse and neurocristopathy. Clin Pediatr 19: 665-668
    • (1980) Clin Pediatr , vol.19 , pp. 665-668
    • Bower, R.J.1    Adkins, J.C.2
  • 14
    • 0027171785 scopus 로고
    • Segregation of cell lineage in the neural crest
    • Bronner-Fraser M (1993) Segregation of cell lineage in the neural crest. Curr Opin Genet Dev 3: 641-647
    • (1993) Curr Opin Genet Dev , vol.3 , pp. 641-647
    • Bronner-Fraser, M.1
  • 16
    • 0023256890 scopus 로고
    • Exclusion of linkage loci on chromosome 19 with multiple endocrine neoplasia type 2
    • Carter C, Easton DF, Mathew CG (1987) Exclusion of linkage loci on chromosome 19 with multiple endocrine neoplasia type 2. Cytogenet Cell Genet 45: 33-37
    • (1987) Cytogenet Cell Genet , vol.45 , pp. 33-37
    • Carter, C.1    Easton, D.F.2    Mathew, C.G.3
  • 19
    • 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
  • 20
    • 0022648308 scopus 로고
    • Associated developmental abnormalities of the anterior end of the neural crest: Hirschsprung's disease - Waardenburg's syndrome
    • Currie ABM, Haddad M, Honeyman M, Boddy SAM (1986) Associated developmental abnormalities of the anterior end of the neural crest: Hirschsprung's disease - Waardenburg's syndrome. J Pediatr Surg 21: 240-250
    • (1986) J Pediatr Surg , vol.21 , pp. 240-250
    • Currie, A.B.M.1    Haddad, M.2    Honeyman, M.3    Boddy, S.A.M.4
  • 21
    • 0027070957 scopus 로고
    • Long-term follow-up of a large North American kindred with multiple endocrine neoplasia type 2A
    • Decker RA (1992) Long-term follow-up of a large North American kindred with multiple endocrine neoplasia type 2A. Surgery 112: 1066-1073
    • (1992) Surgery , vol.112 , pp. 1066-1073
    • Decker, R.A.1
  • 27
    • 0018392348 scopus 로고
    • Coexistent neuroblastoma and Hirschsprung's disease - Another manifestation of the neurocristopathy?
    • Gaisie G, Sang K, Young LW (1979) Coexistent neuroblastoma and Hirschsprung's disease - another manifestation of the neurocristopathy? Pediatr Radiol 8: 161-163
    • (1979) Pediatr Radiol , vol.8 , pp. 161-163
    • Gaisie, G.1    Sang, K.2    Young, L.W.3
  • 28
    • 0014002306 scopus 로고
    • Waardenburg's syndrome with fundus and other anomalies
    • Goldberg MF (1966) Waardenburg's syndrome with fundus and other anomalies. Arch Ophthalmol 76: 797-810
    • (1966) Arch Ophthalmol , vol.76 , pp. 797-810
    • Goldberg, M.F.1
  • 31
    • 0024535520 scopus 로고
    • Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs
    • Hamilton J, Bodurtha JN (1989) Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs. J Med Genet 26: 272-274
    • (1989) J Med Genet , vol.26 , pp. 272-274
    • Hamilton, J.1    Bodurtha, J.N.2
  • 34
    • 0028639196 scopus 로고
    • Targeted and natural (piebaldlethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
    • Hosoda K, Hammer RE, Richardson JA, Baynash AG, Cherung JC, Giaid A, Yanagisawa M (1994) Targeted and natural (piebaldlethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79: 1267-1276
    • (1994) Cell , vol.79 , pp. 1267-1276
    • Hosoda, K.1    Hammer, R.E.2    Richardson, J.A.3    Baynash, A.G.4    Cherung, J.C.5    Giaid, A.6    Yanagisawa, M.7
  • 35
    • 1042285999 scopus 로고
    • Congenital deafness, Hirschsprung's and Waardenburg's syndrome
    • Kelley RI, Zackai EH (1981) Congenital deafness, Hirschsprung's and Waardenburg's syndrome (abstract). Am J Hum Genet 33: 65 A
    • (1981) Am J Hum Genet , vol.33
    • Kelley, R.I.1    Zackai, E.H.2
  • 36
    • 0025271329 scopus 로고
    • Segmentation and the origin of regional diversity in the vertebrate central nervous system
    • Keynes R and Lunsden A (1990) Segmentation and the origin of regional diversity in the vertebrate central nervous system. Neuron 4: 1-9
    • (1990) Neuron , vol.4 , pp. 1-9
    • Keynes, R.1    Lunsden, A.2
  • 37
    • 8044237925 scopus 로고
    • Novel mutations of the endothelin-B receptor gene in sporadically occurring Hirschsprung's disease
    • Dublin, July 1995
    • Kusafuka T, Wang Y, Puri P (1995) Novel mutations of the endothelin-B receptor gene in sporadically occurring Hirschsprung's disease (abstract). Eighth International Symposium on Paediatric Surgical Research, Dublin, July 1995
    • (1995) Eighth International Symposium on Paediatric Surgical Research
    • Kusafuka, T.1    Wang, Y.2    Puri, P.3
  • 39
    • 0026354336 scopus 로고
    • Segmental origin and migration of neural crest cells in the hindbrain region of the chick embryo
    • Lumsden A, Sprawson N, Graham A (1991) Segmental origin and migration of neural crest cells in the hindbrain region of the chick embryo. Development 113: 1281-1291
    • (1991) Development , vol.113 , pp. 1281-1291
    • Lumsden, A.1    Sprawson, N.2    Graham, A.3
  • 43
    • 0028932954 scopus 로고
    • Immunohistochemical localization of ret protein in Hirschsprung's disease
    • Martucciello G, Favre A, Takahashi M, Jasonni V (1995) Immunohistochemical localization of ret protein in Hirschsprung's disease. J Pediatr Surg 30: 433-436
    • (1995) J Pediatr Surg , vol.30 , pp. 433-436
    • Martucciello, G.1    Favre, A.2    Takahashi, M.3    Jasonni, V.4
  • 45
    • 0023223756 scopus 로고
    • Waardenburg syndrome, Hirschsprung disease and Marcus Gunn ptosis
    • Meire F, Standaert L, De Laey JJ, Zeng LH (1987) Waardenburg syndrome, Hirschsprung disease 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
  • 46
    • 8044250046 scopus 로고
    • Antero-posterior differences within caudal hindbrain neural crest cell populations and the development of the enteric nervous system
    • (personal communication). Cleveland, October 1995
    • Meijers JHC, Mulder M (1995) Antero-posterior differences within caudal hindbrain neural crest cell populations and the development of the enteric nervous system (personal communication). Second International Meeting: Hirschsprung's disease and related neurocristopathies, Cleveland, October 1995
    • (1995) Second International Meeting: Hirschsprung's Disease and Related Neurocristopathies
    • Meijers, J.H.C.1    Mulder, M.2
  • 48
    • 0024418399 scopus 로고
    • Hirschsprung's disease and Ondine's curse: Further evidence for a distinct syndrome
    • Minutillo C, Pemberton PJ, Goldblatt J (1989) Hirschsprung's disease and Ondine's curse: further evidence for a distinct syndrome. Clin Genet 36: 200-203
    • (1989) Clin Genet , vol.36 , pp. 200-203
    • Minutillo, C.1    Pemberton, P.J.2    Goldblatt, J.3
  • 49
    • 0025131370 scopus 로고
    • Cerebral arteriovenous malformation, Ondine's curse and Hirschsprung's disease
    • Mukohopadhyay S, Wilkinson PW (1990) Cerebral arteriovenous malformation, Ondine's curse and Hirschsprung's disease. Dev Med Child Neurol 32: 1087-1089
    • (1990) Dev Med Child Neurol , vol.32 , pp. 1087-1089
    • Mukohopadhyay, S.1    Wilkinson, P.W.2
  • 53
    • 0023503150 scopus 로고
    • Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse)
    • O'Dell K, Staren SE, Bassuk A (1987) Total colonic aganglionosis (Zuelzer-Wilson syndrome) and congenital failure of automatic control of ventilation (Ondine's curse). J Pediatr Surg 22: 1019-1020
    • (1987) J Pediatr Surg , vol.22 , pp. 1019-1020
    • O'Dell, K.1    Staren, S.E.2    Bassuk, A.3
  • 54
    • 0018580605 scopus 로고
    • The association of Waardenburg syndrome and Hirschsprung megacolon
    • Omen GS, McKusick VA (1979) The association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet 3: 217-223
    • (1979) Am J Med Genet , vol.3 , pp. 217-223
    • Omen, G.S.1    McKusick, V.A.2
  • 57
    • 0027161250 scopus 로고
    • Ablation of various regions within the avian neural crest has differential effects on ganglion formation in the fore-, mid-, and hind gut
    • Peters-van der Sanden MJH, Kirby ML, Gittenberger-de Groot A, Tibboel D, Mulder MP, Meijers C (1993) Ablation of various regions within the avian neural crest has differential effects on ganglion formation in the fore-, mid-, and hind gut. Dev Dyn 196: 183-194
    • (1993) Dev Dyn , vol.196 , pp. 183-194
    • Peters-van Der Sanden, M.J.H.1    Kirby, M.L.2    Gittenberger-de Groot, A.3    Tibboel, D.4    Mulder, M.P.5    Meijers, C.6
  • 60
    • 8044254193 scopus 로고
    • Molecular genetic mapping of the dominant megacolon mutation (Dom) in the mouse
    • (personal communication). Cleveland, October 1995
    • Puliti A (1995) Molecular genetic mapping of the dominant megacolon mutation (Dom) in the mouse (personal communication). Second International Meeting: Hirschsprung's disease and related neurocristopathies, Cleveland, October 1995
    • (1995) Second International Meeting: Hirschsprung's Disease and Related Neurocristopathies
    • Puliti, A.1
  • 61
    • 0014056474 scopus 로고
    • Pigmentary disorders in association with congenital deafness
    • Reed WB, Stone VM, Boder E, Ziprowski L (1967) Pigmentary disorders in association with congenital deafness. Arch Dermatol 95: 176-186
    • (1967) Arch Dermatol , vol.95 , pp. 176-186
    • Reed, W.B.1    Stone, V.M.2    Boder, E.3    Ziprowski, L.4
  • 63
  • 65
    • 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
  • 66
    • 0000046769 scopus 로고
    • Case reports: Aganglionic megacolon, pheochromocytoma, megaloureter and neurofibroma: concurrence of several abnormalities
    • Shocket E, Teloh HA (1957) Case reports: aganglionic megacolon, pheochromocytoma, megaloureter and neurofibroma: concurrence of several abnormalities. Am J Dis Child 94: 185
    • (1957) Am J Dis Child , vol.94 , pp. 185
    • Shocket, E.1    Teloh, H.A.2
  • 68
    • 0019328607 scopus 로고
    • Total aganglionosis of the colon and Ondine's curse
    • letter to editor
    • Stern M, Erttmann R, Hellwege HH, Kuhn N (1980) Total aganglionosis of the colon and Ondine's curse (letter to editor). Lancet I: 877-878
    • (1980) Lancet , vol.1 , pp. 877-878
    • Stern, M.1    Erttmann, R.2    Hellwege, H.H.3    Kuhn, N.4
  • 69
    • 0026092489 scopus 로고
    • Identification of the RET proto-oncogene products in neuroblastoma and leukemia cells
    • Takahashi M, Buma Y, Taniguchi M (1991) Identification of the RET proto-oncogene products in neuroblastoma and leukemia cells. Oncogene 6: 297-301
    • (1991) Oncogene , vol.6 , pp. 297-301
    • Takahashi, M.1    Buma, Y.2    Taniguchi, M.3
  • 72


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.