메뉴 건너뛰기




Volumn 27, Issue 4, 2011, Pages 347-352

Hirschsprung's disease and the brain

Author keywords

Central nervous system; Enteric nervous system; Genetic; Hirschsprung's disease; HSCR; Syndromes

Indexed keywords

ARTICLE; BRAIN DAMAGE; BRAIN DEVELOPMENT; CHROMOSOME 21; CHROMOSOME 9; DOWN SYNDROME; EAR DISEASE; ELECTROENCEPHALOGRAPHY; GASTROESOPHAGEAL REFLUX; GENETIC ASSOCIATION; HIRSCHSPRUNG DISEASE; HUMAN; HYPOVENTILATION; MENTAL DEFICIENCY; MICROCEPHALY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

EID: 79954434890     PISSN: 01790358     EISSN: 14379813     Source Type: Journal    
DOI: 10.1007/s00383-010-2807-y     Document Type: Article
Times cited : (12)

References (76)
  • 1
    • 48549090599 scopus 로고    scopus 로고
    • Congenital anomalies and genetic associations: In Hirschsprung's disease
    • Holschneider AM, Puri P (eds), chap 9, 3rd edn. Springer, Berlin
    • Moore SW (2008) Congenital anomalies and genetic associations: in Hirschsprung's disease. In: Holschneider AM, Puri P (eds) Hirschsprung's disease and allied disorders, chap 9, 3rd edn. Springer, Berlin, pp 115-131
    • (2008) Hirschsprung's Disease and Allied Disorders , pp. 115-131
    • Moore, S.W.1
  • 2
    • 0034764984 scopus 로고    scopus 로고
    • Hirschsprung disease, associated syndromes, and genetics: A review
    • J Amiel S Lyonnet 2001 Hirschsprung disease, associated syndromes, genetics: a review J Med Genet 38 729 739 11694544 10.1136/jmg.38.11.729 1:CAS:528:DC%2BD3MXptVKqsLw%3D (Pubitemid 33032927)
    • (2001) Journal of Medical Genetics , vol.38 , Issue.11 , pp. 729-739
    • Amiel, J.1    Lyonnet, S.2
  • 3
    • 33645380163 scopus 로고    scopus 로고
    • The contribution of associated congenital anomalies in understanding Hirschsprung's disease
    • 16518596 10.1007/s00383-006-1655-2 1:STN:280:DC%2BD287nvVCktw%3D%3D
    • SW Moore 2006 The contribution of associated congenital anomalies in understanding Hirschsprung's disease Pediatr Surg Int 22 305 315 16518596 10.1007/s00383-006-1655-2 1:STN:280:DC%2BD287nvVCktw%3D%3D
    • (2006) Pediatr Surg Int , vol.22 , pp. 305-315
    • Moore, S.W.1
  • 5
    • 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
    • DR Mowat GD Croaker DT Cass BA Kerr J Chaitow LC Ades NL Chia MJ Wilson 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 9719364 10.1136/jmg.35.8.617 1:STN:280:DyaK1czotlyluw%3D%3D (Pubitemid 28371969)
    • (1998) Journal of Medical Genetics , vol.35 , Issue.8 , pp. 617-623
    • Mowat, D.R.1    Croaker, G.D.H.2    Cass, D.T.3    Kerr, B.A.4    Chaitow, J.5    Ades, L.C.6    Chia, N.L.7    Wilson, M.J.8
  • 6
    • 14444271831 scopus 로고    scopus 로고
    • Congenital central hypoventilation syndrome and Hirschprung's disease
    • GD Croaker E Shi E Simpson T Cartmill DT Cass 1998 Congenital central hypoventilation syndrome and Hirschsprung's disease Arch Dis Child 78 316 322 9623393 10.1136/adc.78.4.316 1:STN:280:DyaK1c3os1GqtA%3D%3D (Pubitemid 28180551)
    • (1998) Archives of Disease in Childhood , vol.78 , Issue.4 , pp. 316-322
    • Croaker, G.D.H.1    Shi, E.2    Simpson, E.3    Cartmill, T.4    Cass, D.T.5
  • 7
    • 0032077040 scopus 로고    scopus 로고
    • Hemimegalencephaly and Hirschsprung's disease: A unique association
    • DOI 10.1016/S0887-8994(97)00228-2, PII S0887899497002282
    • D Turkdogan-Sozuer MM Ozek V Sehiralti O Kurtkaya A Sav 1998 Hemimegalencephaly and Hirschsprung's disease: a unique association Pediatr Neurol 18 452 455 9650691 10.1016/S0887-8994(97)00228-2 1:STN:280: DyaK1czht1Oisw%3D%3D (Pubitemid 28308718)
    • (1998) Pediatric Neurology , vol.18 , Issue.5 , pp. 452-455
    • Turkdogan-Sozuer, D.1    Ozek, M.M.2    Sehiralti, V.3    Kurtkaya, O.4    Sav, A.5
  • 9
    • 0037699808 scopus 로고    scopus 로고
    • Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease
    • DOI 10.1016/S0887-8994(03)00010-9
    • E Shahar M Shinawi 2003 Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease Pediatr Neurol 28 385 391 12878302 10.1016/S0887-8994(03)00010-9 (Pubitemid 36876140)
    • (2003) Pediatric Neurology , vol.28 , Issue.5 , pp. 385-391
    • Shahar, E.1    Shinawi, M.2
  • 11
    • 0032545203 scopus 로고    scopus 로고
    • Anencephaly-associated aganglionosis
    • DOI 10.1002/(SICI)1096-8628(19981228)80:5<518::AID-AJMG16>3.0.CO;2- M
    • A Mathew 1998 Anencephaly-associated aganglionosis Am J Med Genet 80 518 520 9880220 10.1002/(SICI)1096-8628(19981228)80:5<518::AID-AJMG16>3.0. CO;2-M 1:STN:280:DyaK1M%2FpsVyhuw%3D%3D (Pubitemid 29002022)
    • (1998) American Journal of Medical Genetics , vol.80 , Issue.5 , pp. 518-520
    • Mathew, A.1
  • 13
    • 18544365991 scopus 로고    scopus 로고
    • Segregation at three loci explains familial and population risk in Hirschsprung disease
    • 10.1038/nrd721
    • S Bolk-Gabriel R Salomon A Pelet, et al. 2002 Segregation at three loci explains familial and population risk in Hirschsprung disease Nat Genet 1 89 93 10.1038/nrd721
    • (2002) Nat Genet , vol.1 , pp. 89-93
    • Bolk-Gabriel, S.1    Salomon, R.2    Pelet, A.3
  • 14
    • 0017673097 scopus 로고
    • Hirschsprung's disease and congenital deafness: Familial association
    • DOI 10.1007/BF00527397
    • AG Weinberg G Currarino M Besserman 1977 Hirschsprung's disease and congenital deafness Hum Genet 38 157 161 908562 10.1007/BF00527397 1:STN:280:DyaE1c%2FgsVOltQ%3D%3D (Pubitemid 8180203)
    • (1977) Human Genetics , vol.38 , Issue.2 , pp. 157-161
    • Weinberg, A.G.1    Currarino, G.2    Besserman, A.M.3
  • 15
    • 0018580605 scopus 로고
    • The association of Waardenburg syndrome and Hirschsprung megacolon
    • GS Omenn VA McKusick 1979 The association of Waardenburgh syndrome and Hirschsprung's megacolon Am J Med Genet 3 217 223 484594 10.1002/ajmg.1320030302 1:STN:280:DyaL3c%2FhslKjsg%3D%3D (Pubitemid 10132404)
    • (1979) American Journal of Medical Genetics , vol.3 , Issue.3 , pp. 217-223
    • Omenn, G.S.1    McKusick, V.A.2
  • 16
    • 0019406679 scopus 로고
    • White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome
    • DOI 10.1016/S0022-3476(81)80339-3
    • KN Shah SJ Dalal MP Desai 1981 White forelock, pigmentary disorder of irides and long segment Hirschsprung's disease: possible variant of Waardenburg syndrome J Pediatr 99 432 435 7264803 10.1016/S0022-3476(81)80339-3 1:STN:280:DyaL3M3ms1Gqsw%3D%3D (Pubitemid 11029946)
    • (1981) Journal of Pediatrics , vol.99 , Issue.3 , pp. 432-435
    • Shah, K.N.1    Dalal, S.J.2    Desai, M.P.3
  • 17
    • 0034888891 scopus 로고    scopus 로고
    • Radial glia is a progenitor of neocortical neurons in the developing cerebral cortex
    • DOI 10.1016/S0168-0102(01)00259-0, PII S0168010201002590
    • N Tamamaki K Nakamura K Okamoto T Kaneko 2001 Radial glia is a progenitor of neocortical neurons in the developing cerebral cortex Neurosci Res 41 51 60 11535293 10.1016/S0168-0102(01)00259-0 1:STN:280:DC%2BD3MvptlGltQ%3D%3D (Pubitemid 32776636)
    • (2001) Neuroscience Research , vol.41 , Issue.1 , pp. 51-60
    • Tamamaki, N.1    Nakamura, K.2    Okamoto, K.3    Kaneko, T.4
  • 18
    • 77957018570 scopus 로고    scopus 로고
    • Developmental determinants of the independence and complexity of the enteric nervous system
    • 20633936 10.1016/j.tins.2010.06.002 1:CAS:528:DC%2BC3cXht1Wju7rF
    • MD Gershon 2010 Developmental determinants of the independence and complexity of the enteric nervous system Trends Neurosci 33 446 456 20633936 10.1016/j.tins.2010.06.002 1:CAS:528:DC%2BC3cXht1Wju7rF
    • (2010) Trends Neurosci , vol.33 , pp. 446-456
    • Gershon, M.D.1
  • 19
    • 2942625882 scopus 로고    scopus 로고
    • Dynamics of neural crest-derived cell migration in the embryonic mouse gut
    • DOI 10.1016/j.ydbio.2004.03.015, PII S0012160604002027
    • HM Young AJ Bergner RB Anderson H Enomoto J Milbrandt DF Newgreen PM Whitington 2004 Dynamics of neural crest-derived cell migration in the embryonic mouse gut Dev Biol 270 455 473 15183726 10.1016/j.ydbio.2004.03.015 1:CAS:528:DC%2BD2cXkslWmtbY%3D (Pubitemid 38748565)
    • (2004) Developmental Biology , vol.270 , Issue.2 , pp. 455-473
    • Young, H.M.1    Bergner, A.J.2    Anderson, R.B.3    Enomoto, H.4    Milbrandt, J.5    Newgreen, D.F.6    Whitington, P.M.7
  • 20
    • 0029026103 scopus 로고
    • The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall
    • 7666188 1:CAS:528:DyaK2MXnvFChtLg%3D
    • T Takahashi RS Nowakowski VS Caviness Jr 1995 The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall J Neurosci 15 6046 6057 7666188 1:CAS:528:DyaK2MXnvFChtLg%3D
    • (1995) J Neurosci , vol.15 , pp. 6046-6057
    • Takahashi, T.1    Nowakowski, R.S.2    Caviness Jr., V.S.3
  • 21
    • 3042541621 scopus 로고    scopus 로고
    • Guidance cues involved in the development of the peripheral autonomic nervous system
    • DOI 10.1016/j.autneu.2004.02.008, PII S1566070204000761
    • HM Young RB Anderson CR Anderson 2004 Guidance cues involved in the development of the peripheral autonomic nervous system Auton Neurosci 112 1 14 15233925 10.1016/j.autneu.2004.02.008 1:CAS:528:DC%2BD2cXlsVWhu78%3D (Pubitemid 38845064)
    • (2004) Autonomic Neuroscience: Basic and Clinical , vol.112 , Issue.1-2 , pp. 1-14
    • Young, H.M.1    Anderson, R.B.2    Anderson, C.R.3
  • 22
    • 48549104366 scopus 로고    scopus 로고
    • Down syndrome and the enteric nervous system
    • 18633623 10.1007/s00383-008-2188-7 1:STN:280:DC%2BD1cvos1Gnuw%3D%3D
    • SW Moore 2008 Down syndrome and the enteric nervous system Pediatr Surg Int 24 873 883 18633623 10.1007/s00383-008-2188-7 1:STN:280: DC%2BD1cvos1Gnuw%3D%3D
    • (2008) Pediatr Surg Int , vol.24 , pp. 873-883
    • Moore, S.W.1
  • 24
    • 0014210694 scopus 로고
    • The genetics of Hirschsprung's disease
    • 4224912 10.1056/NEJM196701192760303 1:STN:280:DyaF2s%2Fotlyrsg%3D%3D
    • E Passarge 1967 The genetics of Hirschsprung's disease N Engl J Med 276 138 143 4224912 10.1056/NEJM196701192760303 1:STN:280:DyaF2s%2Fotlyrsg%3D%3D
    • (1967) N Engl J Med , vol.276 , pp. 138-143
    • Passarge, E.1
  • 25
    • 0022393182 scopus 로고
    • Hirschsprung disease: A genetic study
    • K Garver J Law B Garver 1985 Hirschsprung disease: a genetic study Clin Genet 28 503 508 2934185 10.1111/j.1399-0004.1985.tb00417.x 1:STN:280: DyaL28%2FotVWmtg%3D%3D (Pubitemid 16208660)
    • (1985) Clinical Genetics , vol.28 , Issue.6 , pp. 503-508
    • Garver, K.L.1    Law, J.C.2    Garver, B.3
  • 26
    • 0022800108 scopus 로고
    • Additional anomalies in Hirschsprung's disease: An analysis based on a nationwide survey in Japan
    • 2947399 1:STN:280:DyaL2s%2Fnt1Smtw%3D%3D
    • K Ikeda S Goto 1986 Additional anomalies in Hirschsprung's disease: an analysis based on a nationwide survey in Japan Z Kinderchir 41 279 281 2947399 1:STN:280:DyaL2s%2Fnt1Smtw%3D%3D
    • (1986) Z Kinderchir , vol.41 , pp. 279-281
    • Ikeda, K.1    Goto, S.2
  • 27
    • 0021970463 scopus 로고
    • Hirschsprung disease in a large birth cohort
    • DOI 10.1002/tera.1420320204
    • D Spouge PA Baird 1985 Hirschsprung's disease in a large birth cohort Teratology 32 171 177 4049274 10.1002/tera.1420320204 1:STN:280: DyaL28%2FhvFGktg%3D%3D (Pubitemid 15234510)
    • (1985) Teratology , vol.32 , Issue.2 , pp. 171-177
    • Spouge, D.1    Baird, P.A.2
  • 28
    • 0025268652 scopus 로고
    • A genetic study of Hirschsprung disease
    • 2309705 1:STN:280:DyaK3c7nvVSqsA%3D%3D
    • JA Badner WK Sieber KL Garver A Chakravarti 1990 A genetic study of Hirschsprung disease Am J Hum Genet 46 568 580 2309705 1:STN:280: DyaK3c7nvVSqsA%3D%3D
    • (1990) Am J Hum Genet , vol.46 , pp. 568-580
    • Badner, J.A.1    Sieber, W.K.2    Garver, K.L.3    Chakravarti, A.4
  • 29
    • 0021732114 scopus 로고
    • An epidemiological study of Hirschsprung's disease
    • EL Goldberg 1984 An epidemiological study of Hirschsprung's disease Int J Epidemiol 13 479 485 6240474 10.1093/ije/13.4.479 1:STN:280: DyaL2M7gsVSitA%3D%3D (Pubitemid 15125940)
    • (1984) International Journal of Epidemiology , vol.13 , Issue.4 , pp. 479-485
    • Goldberg, E.L.1
  • 30
    • 0025269530 scopus 로고
    • Management of Hirschsprung's disease in children with trisomy 21
    • DA Caniano DH Teitelbaum SJ Qualman 1990 Management of Hirschsprung's disease in children with trisomy 21 Am J Surg 159 402 404 2138433 10.1016/S0002-9610(05)81281-4 1:STN:280:DyaK3c7ps1Crsg%3D%3D (Pubitemid 20122243)
    • (1990) American Journal of Surgery , vol.159 , Issue.4 , pp. 402-404
    • Caniano, D.A.1    Teitelbaum, D.H.2    Qualman, S.J.3
  • 31
    • 0028358232 scopus 로고
    • The influence of trisomy 21 on outcome in children with Hirschsprung's disease
    • DOI 10.1016/0022-3468(94)90369-7
    • FM Quinn R Surana P Puri 1994 The influence of trisomy 21 on outcome in children with Hirschsprung's disease J Pediatr Surg 29 781 783 8078020 10.1016/0022-3468(94)90369-7 1:STN:280:DyaK2czlvVyhtQ%3D%3D (Pubitemid 24191363)
    • (1994) Journal of Pediatric Surgery , vol.29 , Issue.6 , pp. 781-783
    • Quinn, F.M.J.1    Surana, R.2    Puri, P.3
  • 32
    • 0022653534 scopus 로고
    • Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects
    • WT Besson ML Kirby LHS Van Mierop JR Teabeaut 1986 Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects Circulation 73 360 364 3943168 (Pubitemid 16127415)
    • (1986) Circulation , vol.73 , Issue.2 , pp. 360-364
    • Besson III, W.T.1    Kirby, M.L.2    Van Mierop, L.H.S.3    Teabeaut II, J.R.4
  • 33
    • 0033603112 scopus 로고    scopus 로고
    • Down syndrome: Perinatal complications and counseling experiences in 216 patients
    • DOI 10.1002/(SICI)1096-8628(19990625)89:2<96::AID-AJMG7>3.0.CO;2-4
    • JK Spahis GN Wilson 1999 Down syndrome: perinatal complications and counseling experiences in 216 patients Am J Med Genet 89 96 99 10559764 10.1002/(SICI)1096-8628(19990625)89:2<96::AID-AJMG7>3.0.CO;2-4 1:STN:280:DC%2BD3c%2FisFaruw%3D%3D (Pubitemid 30033164)
    • (1999) American Journal of Medical Genetics - Seminars in Medical Genetics , vol.89 , Issue.2 , pp. 96-99
    • Spahis, J.K.1    Wilson, G.N.2
  • 34
    • 0022891122 scopus 로고
    • Reduced number of neurons in esophageal plexus ganglia in Down syndrome: Additional evidence for reduced cell number as a basic feature of the disorder
    • Y Nakazato BH Landing 1986 Reduced number of neurons in esophageal plexus ganglia in Down syndrome: additional evidence for reduced cell number as a basic feature of the disorder Pediatr Pathol 5 55 63 2941727 10.3109/15513818609068848 1:STN:280:DyaL283lvFCmsw%3D%3D (Pubitemid 16020423)
    • (1986) Pediatric Pathology , vol.5 , Issue.1 , pp. 55-63
    • Nakazato, Y.1    Landing, B.H.2
  • 35
    • 0013940697 scopus 로고
    • Hirschsprung's disease and mongolism
    • 4223811 1:STN:280:DyaF2s%2FgvFCrtQ%3D%3D
    • L Graivier WK Sieber 1966 Hirschsprung's disease and mongolism Surgery 60 458 461 4223811 1:STN:280:DyaF2s%2FgvFCrtQ%3D%3D
    • (1966) Surgery , vol.60 , pp. 458-461
    • Graivier, L.1    Sieber, W.K.2
  • 36
    • 24344509187 scopus 로고    scopus 로고
    • Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome
    • DOI 10.1016/j.jpedsurg.2005.05.040, PII S0022346805004136
    • N Ishihara A Shimada J Kato N Niimi S Tanaka K Miura T Suzuki N Wakamatsu M Nagaya 2005 Variations in aganglionic segment length of the enteric neural plexus in Mowat-Wilson syndrome J Pediatr Surg 40 1411 1419 16150342 10.1016/j.jpedsurg.2005.05.040 (Pubitemid 41248004)
    • (2005) Journal of Pediatric Surgery , vol.40 , Issue.9 , pp. 1411-1419
    • Ishihara, N.1    Shimada, A.2    Kato, J.3    Niimi, N.4    Tanaka, S.5    Miura, K.6    Suzuki, T.7    Wakamatsu, N.8    Nagaya, M.9
  • 38
    • 7244255979 scopus 로고    scopus 로고
    • Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21
    • DOI 10.1002/ajmg.a.30312
    • CY Gregory-Evans H Vieira R Dalton GG Adams A Salt K Gregory-Evans 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 15384097 10.1002/ajmg.a.30312 1:STN:280:DC%2BD2crksVGjtw%3D%3D (Pubitemid 39434800)
    • (2004) American Journal of Medical Genetics , vol.131 A , Issue.1 , pp. 86-90
    • Gregory-Evans, C.Y.1    Vieira, H.2    Dalton, R.3    Adams, G.G.W.4    Salt, A.5    Gregory-Evans, K.6
  • 39
    • 54049100301 scopus 로고    scopus 로고
    • PHOX2B mutations and ventilatory control
    • Gallego J, Dauger S (2008) PHOX2B mutations and ventilatory control. Respir Physiol Neurobiol 164:49-54
    • (2008) Respir Physiol Neurobiol , vol.164 , pp. 49-54
    • Gallego, J.1    Dauger, S.2
  • 40
    • 77956144348 scopus 로고    scopus 로고
    • Atonal homolog 1 is required for growth and differentiation effects of notch/gamma-secretase inhibitors on normal and cancerous intestinal epithelial cells
    • 20621629 10.1053/j.gastro.2010.05.081 1:CAS:528:DC%2BC3cXhtV2iurjM
    • A Kazanjian T Noah D Brown J Burkart NF Shroyer 2010 Atonal homolog 1 is required for growth and differentiation effects of notch/gamma-secretase inhibitors on normal and cancerous intestinal epithelial cells Gastroenterology 139 918 928 20621629 10.1053/j.gastro.2010.05.081 1:CAS:528:DC%2BC3cXhtV2iurjM
    • (2010) Gastroenterology , vol.139 , pp. 918-928
    • Kazanjian, A.1    Noah, T.2    Brown, D.3    Burkart, J.4    Shroyer, N.F.5
  • 41
    • 70350758680 scopus 로고    scopus 로고
    • Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1
    • 20080794 10.1073/pnas.0911579106 1:CAS:528:DC%2BC3cXmtlaqtA%3D%3D
    • MF Rose KA Ahmad C Thaller HY Zoghbi 2009 Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1 Proc Natl Acad Sci USA 106 22462 22467 20080794 10.1073/pnas.0911579106 1:CAS:528:DC%2BC3cXmtlaqtA%3D%3D
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 22462-22467
    • Rose, M.F.1    Ahmad, K.A.2    Thaller, C.3    Zoghbi, H.Y.4
  • 42
    • 70350784143 scopus 로고    scopus 로고
    • Math1 is essential for the development of hindbrain neurons critical for perinatal breathing
    • 19914183 10.1016/j.neuron.2009.10.023 1:CAS:528:DC%2BD1MXhsFylsbrP
    • MF Rose J Ren KA Ahmad HT Chao TJ Klisch A Flora JJ Greer HY Zoghbi 2009 Math1 is essential for the development of hindbrain neurons critical for perinatal breathing Neuron 64 341 354 19914183 10.1016/j.neuron.2009.10.023 1:CAS:528:DC%2BD1MXhsFylsbrP
    • (2009) Neuron , vol.64 , pp. 341-354
    • Rose, M.F.1    Ren, J.2    Ahmad, K.A.3    Chao, H.T.4    Klisch, T.J.5    Flora, A.6    Greer, J.J.7    Zoghbi, H.Y.8
  • 43
    • 0030738352 scopus 로고    scopus 로고
    • Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM
    • N Okamoto Y Wada M Goto 1997 Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM J Med Genet 34 670 671 9279760 10.1136/jmg.34.8.670 1:CAS:528:DyaK2sXmtVGgs74%3D (Pubitemid 27356886)
    • (1997) Journal of Medical Genetics , vol.34 , Issue.8 , pp. 670-671
    • Okamoto, N.1    Wada, Y.2    Goto, M.3
  • 44
    • 77954586994 scopus 로고    scopus 로고
    • L1CAM malfunction in the nervous system and human carcinomas
    • 20237819 10.1007/s00018-010-0339-1
    • MK Schafer P Altevogt 2010 L1CAM malfunction in the nervous system and human carcinomas Cell Mol Life Sci 67 2425 2437 20237819 10.1007/s00018-010- 0339-1
    • (2010) Cell Mol Life Sci , vol.67 , pp. 2425-2437
    • Schafer, M.K.1    Altevogt, P.2
  • 45
    • 0038074091 scopus 로고    scopus 로고
    • GDNF availability determines enteric neuron number by controlling precursor proliferation
    • DOI 10.1242/dev.00433
    • S Gianino JR Grider J Cresswell H Enomoto RO Heuckeroth 2003 GDNF availability determines enteric neuron number by controlling precursor proliferation Development 130 2187 2198 12668632 10.1242/dev.00433 1:CAS:528:DC%2BD3sXkt1Smurg%3D (Pubitemid 36656714)
    • (2003) Development , vol.130 , Issue.10 , pp. 2187-2198
    • Gianino, S.1    Grider, J.R.2    Cresswell, J.3    Enomoto, H.4    Heuckeroth, R.O.5
  • 46
    • 0032080580 scopus 로고    scopus 로고
    • GDNF and ET-3 differentially modulate the numbers of avian enteric neural crest cells and enteric neurons in vitro
    • DOI 10.1006/dbio.1998.8876
    • CJ Hearn M Murphy D Newgreen 1998 GDNF and ET-3 differentially modulate the numbers of avian enteric neural crest cells and enteric neurons in vitro Dev Biol 197 93 105 9578621 10.1006/dbio.1998.8876 1:CAS:528:DyaK1cXjtFaitbk%3D (Pubitemid 28224230)
    • (1998) Developmental Biology , vol.197 , Issue.1 , pp. 93-105
    • Hearn, C.J.1    Murphy, M.2    Newgreen, D.3
  • 48
    • 15844426916 scopus 로고    scopus 로고
    • Regulation of neural development by glial cell line-derived neurotrophic factor family ligands
    • H Enomoto 2005 Regulation of neural development by glial cell line-derived neurotrophic factor family ligands Anat Sci Int 80 42 52 15794130 10.1111/j.1447-073x.2005.00099.x 1:CAS:528:DC%2BD2MXjtFags7o%3D (Pubitemid 40425966)
    • (2005) Anatomical Science International , vol.80 , Issue.1 , pp. 42-52
    • Enomoto, H.1
  • 51
    • 0142106351 scopus 로고    scopus 로고
    • Novel functions and signalling pathways for GDNF
    • DOI 10.1242/jcs.00786
    • H Sariola M Saarma 2003 Novel functions and signalling pathways for GDNF J Cell Sci 116 3855 3862 12953054 10.1242/jcs.00786 1:CAS:528: DC%2BD3sXosFCrs74%3D (Pubitemid 37279301)
    • (2003) Journal of Cell Science , vol.116 , Issue.19 , pp. 3855-3862
    • Sariola, H.1    Saarma, M.2
  • 52
    • 77952304708 scopus 로고    scopus 로고
    • Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development
    • 20206619 10.1016/j.ydbio.2010.02.036 1:CAS:528:DC%2BC3cXlsFOiurs%3D
    • L Stanchina T Van de Putte M Goossens D Huylebroeck N Bondurand 2010 Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development Dev Biol 341 416 428 20206619 10.1016/j.ydbio.2010.02.036 1:CAS:528:DC%2BC3cXlsFOiurs%3D
    • (2010) Dev Biol , vol.341 , pp. 416-428
    • Stanchina, L.1    Van De Putte, T.2    Goossens, M.3    Huylebroeck, D.4    Bondurand, N.5
  • 53
    • 0033791525 scopus 로고    scopus 로고
    • Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret
    • 11032856 10.1172/JCI10828 1:CAS:528:DC%2BD3cXnsVeisb0%3D
    • D Lang F Chen R Milewski J Li MM Lu JA Epstein 2000 Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret J Clin Invest 106 963 971 11032856 10.1172/JCI10828 1:CAS:528: DC%2BD3cXnsVeisb0%3D
    • (2000) J Clin Invest , vol.106 , pp. 963-971
    • Lang, D.1    Chen, F.2    Milewski, R.3    Li, J.4    Lu, M.M.5    Epstein, J.A.6
  • 54
    • 0037447462 scopus 로고    scopus 로고
    • Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
    • DOI 10.1093/hmg/ddg107
    • D Lang JA Epstein 2003 Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer Hum Mol Genet 12 937 945 12668617 10.1093/hmg/ddg107 1:CAS:528:DC%2BD3sXjvVyktrY%3D (Pubitemid 36504036)
    • (2003) Human Molecular Genetics , vol.12 , Issue.8 , pp. 937-945
    • Lang, D.1    Epstein, J.A.2
  • 55
    • 3042766528 scopus 로고    scopus 로고
    • Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors
    • DOI 10.1038/ng1371
    • L Zhu HO Lee CS Jordan VA Cantrell EM Southard-Smith MK Shin 2004 Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors Nat Genet 36 732 737 15170213 10.1038/ng1371 1:CAS:528:DC%2BD2cXlt1Ckurg%3D (Pubitemid 38886635)
    • (2004) Nature Genetics , vol.36 , Issue.7 , pp. 732-737
    • Zhu, L.1    Lee, H.-O.2    Jordan, C.S.3    Cantrell, V.A.4    Southard-Smith, E.M.5    Shin, M.K.6
  • 56
    • 0019922754 scopus 로고
    • Hirschsprung's disease in a kindred: A possible clue to the genetics of the disease
    • DOI 10.1016/S0022-3468(82)80124-3
    • I Cohen MA Gadd 1982 Hirschsprung's disease in a kindred: a possible clue to the genetics of the disease J Pediatr Surg 17 632 634 6217309 10.1016/S0022-3468(82)80124-3 1:STN:280:DyaL3s%2FosFagtA%3D%3D (Pubitemid 12005108)
    • (1982) Journal of Pediatric Surgery , vol.17 , Issue.5 , pp. 632-634
    • Cohen, I.T.1    Gadd, M.A.2
  • 57
    • 0000046769 scopus 로고
    • Aganglionic megacolon, phaeochromocytoma, megaloureter and neurofibromatosis
    • E Schocket HA Telok 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
  • 58
    • 0018377518 scopus 로고
    • Hirschsprung's disease and Waardenburghs syndrome
    • 440906 1:STN:280:DyaE1M7nvFKmuw%3D%3D
    • D Branski NR Denn JM Neale LJ Brooks 1979 Hirschsprung's disease and Waardenburghs syndrome Pediatrics 63 803 806 440906 1:STN:280: DyaE1M7nvFKmuw%3D%3D
    • (1979) Pediatrics , vol.63 , pp. 803-806
    • Branski, D.1    Denn, N.R.2    Neale, J.M.3    Brooks, L.J.4
  • 59
    • 0016169528 scopus 로고
    • The neurocristopathies: A unifying concept of disease arising in neural crest maldevelopment
    • 10.1016/S0046-8177(74)80021-3
    • RP Bolande 1974 The neurocristopathies: a unifying concept of disease arising in neural crest maldevelopment Hum Pathol 5 409 429 10.1016/S0046- 8177(74)80021-3
    • (1974) Hum Pathol , vol.5 , pp. 409-429
    • Bolande, R.P.1
  • 60
    • 42949157312 scopus 로고    scopus 로고
    • A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease
    • 18348267 10.1002/ajmg.a.32247
    • Y Sznajer C Coldea F Meire I Delpierre T Sekhara RL Touraine 2008 A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease Am J Med Genet A 146A 1038 1041 18348267 10.1002/ajmg.a.32247
    • (2008) Am J Med Genet A , vol.146 , pp. 1038-1041
    • Sznajer, Y.1    Coldea, C.2    Meire, F.3    Delpierre, I.4    Sekhara, T.5    Touraine, R.L.6
  • 62
    • 36248955412 scopus 로고    scopus 로고
    • Anophthalmia-Waardenburg syndrome with expanding phenotype: Does neural crest play a role?
    • DOI 10.1177/0883073807307100
    • C Galasso R Bombardieri C Cerminara G Stranci P Curatolo 2007 Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role? J Child Neurol 22 1252 1255 18006952 10.1177/0883073807307100 (Pubitemid 350130638)
    • (2007) Journal of Child Neurology , vol.22 , Issue.11 , pp. 1252-1255
    • Galasso, C.1    Bombardieri, R.2    Cerminara, C.3    Stranci, G.4    Curatolo, P.5
  • 63
    • 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
  • 64
    • 0023317230 scopus 로고
    • Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease
    • 3670916 1:STN:280:DyaL1c%2FktVWltg%3D%3D
    • J Lankosz-Lauterbach M Sanak 1987 Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease Pediatr Pol 62 249 252 3670916 1:STN:280:DyaL1c%2FktVWltg%3D%3D
    • (1987) Pediatr Pol , vol.62 , pp. 249-252
    • Lankosz-Lauterbach, J.1    Sanak, M.2
  • 65
    • 0026500929 scopus 로고
    • Hirschsprung's disease: Associated abnormalities and demography
    • 1552451 10.1016/0022-3468(92)90111-J 1:STN:280:DyaK383gtlWmsQ%3D%3D
    • ET Ryan JL Ecker NA Christakis J Folkman 1992 Hirschsprung's disease: associated abnormalities and demography J Pediatr Surg 27 76 81 1552451 10.1016/0022-3468(92)90111-J 1:STN:280:DyaK383gtlWmsQ%3D%3D
    • (1992) J Pediatr Surg , vol.27 , pp. 76-81
    • Ryan, E.T.1    Ecker, J.L.2    Christakis, N.A.3    Folkman, J.4
  • 66
    • 0024993967 scopus 로고
    • Hirschsprung's disease in mentally retarded patients: A bad prognostic combination
    • M-L Molander 1990 Hirschsprung's disease in mentally retarded patients: a bad prognostic combination Pediatr Surg Int 5 339 340 10.1007/BF00177101 (Pubitemid 20330174)
    • (1990) Pediatric Surgery International , vol.5 , Issue.5 , pp. 339-340
    • Molander, M.-L.1
  • 67
    • 77955228681 scopus 로고    scopus 로고
    • Quality of life in adults operated on for Hirschsprung disease in childhood
    • 20453676 10.1097/MPG.0b013e3181cac1b6
    • A Gunnarsdottir G Sandblom E Arnbjornsson LT Larsson 2010 Quality of life in adults operated on for Hirschsprung disease in childhood J Pediatr Gastroenterol Nutr 51 160 166 20453676 10.1097/MPG.0b013e3181cac1b6
    • (2010) J Pediatr Gastroenterol Nutr , vol.51 , pp. 160-166
    • Gunnarsdottir, A.1    Sandblom, G.2    Arnbjornsson, E.3    Larsson, L.T.4
  • 68
    • 0031927502 scopus 로고    scopus 로고
    • Hirschsprung's disease: Genetic and functional associations of Down's and Waardenburg syndromes
    • SW Moore GA Johnson 1998 Hirschsprung's disease: genetic and functional associations of Downs and Waardenburghs syndromes Semin Pediatr Surg (USA) 7 156 161 1:STN:280:DyaK1czosVOltw%3D%3D (Pubitemid 28384900)
    • (1998) Seminars in Pediatric Surgery , vol.7 , Issue.3 , pp. 156-161
    • Moore, S.W.1    Johnson, A.G.2
  • 69
    • 31944439028 scopus 로고    scopus 로고
    • The impact of Down's syndrome on the immediate and long-term outcomes of children with Hirschsprung's disease
    • DOI 10.1007/s00383-005-1617-0
    • A Morabito A Lall S Gull A Mohee A Bianchi 2006 The impact of Down's syndrome on the immediate and long-term outcomes of children with Hirschsprung's disease Pediatr Surg Int 22 179 181 16362310 10.1007/s00383-005-1617-0 (Pubitemid 43188444)
    • (2006) Pediatric Surgery International , vol.22 , Issue.2 , pp. 179-181
    • Morabito, A.1    Lall, A.2    Gull, S.3    Mohee, A.4    Bianchi, A.5
  • 70
    • 0023840809 scopus 로고
    • Hirschsprung's disease. Identification of risk factors for enterocolitis
    • DH Teitelbaum SJ Qualman DA Caniano 1988 Hirschsprung's disease: identification of risk factors for enterocolitis Ann Surg 207 240 244 2964227 10.1097/00000658-198803000-00003 1:STN:280:DyaL1c7kvFWhtQ%3D%3D (Pubitemid 18088976)
    • (1988) Annals of Surgery , vol.207 , Issue.3 , pp. 240-244
    • Teitelbaum, D.H.1    Qualman, S.J.2    Caniano, D.A.3
  • 71
    • 0018080770 scopus 로고
    • A critical evaluation of the Duhamel operation for HSCR
    • 637716 1:STN:280:DyaE1c7ktlymug%3D%3D
    • J Grosfeld T Ballantine J Csicsko 1978 A critical evaluation of the Duhamel operation for HSCR Arch Surg 113 454 459 637716 1:STN:280: DyaE1c7ktlymug%3D%3D
    • (1978) Arch Surg , vol.113 , pp. 454-459
    • Grosfeld, J.1    Ballantine, T.2    Csicsko, J.3
  • 72
    • 0023814556 scopus 로고
    • Defective white blood cell function in Hirschsprung's disease: A possible predisposing factor for enterocolitis
    • 1:STN:280:DyaL1M7isFCisA%3D%3D
    • WD Wilson-Storey WG Scobie JA Raeburn 1988 Defective white blood cell function in Hirschsprung's disease: a possible predisposing factor for enterocolitis J R Coll Surg Edin 33 185 188 1:STN:280:DyaL1M7isFCisA%3D%3D
    • (1988) J R Coll Surg Edin , vol.33 , pp. 185-188
    • Wilson-Storey, W.D.1    Scobie, W.G.2    Raeburn, J.A.3
  • 73
    • 48249154250 scopus 로고    scopus 로고
    • The ITGB2 immunomodulatory gene (CD18), enterocolitis and Hirschsprung's disease (HSCR)
    • 18675632 10.1016/j.jpedsurg.2007.12.057
    • SW Moore MG Zaahl 2008 The ITGB2 immunomodulatory gene (CD18), enterocolitis and Hirschsprung's disease (HSCR) J Pediatr Surg 43 8 1439 1444 18675632 10.1016/j.jpedsurg.2007.12.057
    • (2008) J Pediatr Surg , vol.43 , Issue.8 , pp. 1439-1444
    • Moore, S.W.1    Zaahl, M.G.2
  • 74
    • 33645882523 scopus 로고    scopus 로고
    • Long-term continence in patients with Hirschsprung's disease and Down syndrome
    • 16677164 10.1111/j.1440-1746.2005.03996.x
    • AG Catto-Smith M Trajanovska RG Taylor 2006 Long-term continence in patients with Hirschsprung's disease and Down syndrome J Gastroenterol Hepatol 21 748 753 16677164 10.1111/j.1440-1746.2005.03996.x
    • (2006) J Gastroenterol Hepatol , vol.21 , pp. 748-753
    • Catto-Smith, A.G.1    Trajanovska, M.2    Taylor, R.G.3
  • 75
    • 33645105873 scopus 로고    scopus 로고
    • Histopathological and immunohistochemical study of the enteric innervations among various types of aganglionoses including isolated and syndromic Hirschsprung disease
    • 16521475 10.1111/j.1440-1789.2006.00649.x
    • H Matsuda J Hirato M Kuroiwa Y Nakazato 2006 Histopathological and immunohistochemical study of the enteric innervations among various types of aganglionoses including isolated and syndromic Hirschsprung disease Neuropathology 26 8 23 16521475 10.1111/j.1440-1789.2006.00649.x
    • (2006) Neuropathology , vol.26 , pp. 8-23
    • Matsuda, H.1    Hirato, J.2    Kuroiwa, M.3    Nakazato, Y.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.