메뉴 건너뛰기




Volumn 80, Issue 1-2, 2003, Pages 66-73

Genetic basis of Hirschsprung disease: Implications in clinical practice

Author keywords

[No Author keywords available]

Indexed keywords

BARDET BIEDL SYNDROME; CARTILAGE HYPOPLASIA; CHROMOSOME ABERRATION; CLINICAL PRACTICE; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DOWN SYNDROME; FAMILY HISTORY; FECES INCONTINENCE; FOLLOW UP; GENE LOCUS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; GENETIC TRAIT; HIRSCHSPRUNG DISEASE; HOMOZYGOTE; HUMAN; HYPOPLASIA; LONG TERM CARE; MCKUSICK KAUFMAN SYNDROME; MOLECULAR GENETICS; MUSCULAR DYSTROPHY; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PULL THROUGH OPERATION; SEX RATIO; SHORT SURVEY; SMITH LEMLI OPITZ SYNDROME; TREATMENT PLANNING; TRISOMY 21; WAARDENBURG SYNDROME;

EID: 0142026110     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.08.007     Document Type: Short Survey
Times cited : (12)

References (86)
  • 1
    • 0028203639 scopus 로고
    • An epidemiological study of Hirschsprung's disease and additional anomalies
    • Russell M.B., Russell C.A., Niebuhr E. An epidemiological study of Hirschsprung's disease and additional anomalies. Acta. Pediatr. 83:1994;68-71.
    • (1994) Acta. Pediatr. , vol.83 , pp. 68-71
    • Russell, M.B.1    Russell, C.A.2    Niebuhr, E.3
  • 3
    • 0024462703 scopus 로고
    • Cat eye syndrome associated with aganglionosis of the small and large intestine
    • Ward J., Sierra I.A., D'Croz E. Cat eye syndrome associated with aganglionosis of the small and large intestine. J. Med. Genet. 26:1989;647-648.
    • (1989) J. Med. Genet. , vol.26 , pp. 647-648
    • Ward, J.1    Sierra, I.A.2    D'Croz, E.3
  • 4
    • 0034648508 scopus 로고    scopus 로고
    • Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement
    • Inoue K., Shimotake T., Iwai N. Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement. Am. J. Med. Genet. 93:2000;278-284.
    • (2000) Am. J. Med. Genet. , vol.93 , pp. 278-284
    • Inoue, K.1    Shimotake, T.2    Iwai, N.3
  • 5
    • 0015888640 scopus 로고
    • The migration of neural crest cells to the wall of the digestive tract in avian embryo
    • Le Douarin N.M., Teillet M.A. The migration of neural crest cells to the wall of the digestive tract in avian embryo. J. Embryol. Exper. Morphol. 30:1973;31-48.
    • (1973) J. Embryol. Exper. Morphol. , vol.30 , pp. 31-48
    • Le Douarin, N.M.1    Teillet, M.A.2
  • 6
    • 0014210694 scopus 로고
    • The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families
    • Passarge E. The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. N. Engl. J. Med. 276:1967;138-143.
    • (1967) N. Engl. J. Med. , vol.276 , pp. 138-143
    • Passarge, E.1
  • 7
    • 0021970463 scopus 로고
    • Hirschsprung disease in a large birth cohort
    • Spouge D., Baird P.A. Hirschsprung disease in a large birth cohort. Teratology. 32:1985;171-177.
    • (1985) Teratology , vol.32 , pp. 171-177
    • Spouge, D.1    Baird, P.A.2
  • 8
    • 0021732114 scopus 로고
    • An epidemiological study of Hirschsprung's disease
    • Goldberg E.L. An epidemiological study of Hirschsprung's disease. Int. J. Epidemiol. 13:1984;479-485.
    • (1984) Int. J. Epidemiol. , vol.13 , pp. 479-485
    • Goldberg, E.L.1
  • 9
    • 0018676390 scopus 로고
    • Hirschsprung's disease - A survey of the members of the Surgical Section of the American Academy of Pediatrics
    • Kleinhaus S., Boley S.J., Sheran M., Sieber W.K. Hirschsprung's disease - a survey of the members of the Surgical Section of the American Academy of Pediatrics. J. Pediatr. Surg. 14:1979;588-597.
    • (1979) J. Pediatr. Surg. , vol.14 , pp. 588-597
    • Kleinhaus, S.1    Boley, S.J.2    Sheran, M.3    Sieber, W.K.4
  • 12
    • 0007710387 scopus 로고    scopus 로고
    • Disorders and congenital malformations associated with Hirschsprung's disease
    • Amsterdam: Harwood Academic Publishers
    • Brown R.A., Cywes S. Disorders and congenital malformations associated with Hirschsprung's disease. Hirschsprung's Disease and Allied Disorders. 2000;137-145 Harwood Academic Publishers, Amsterdam.
    • (2000) Hirschsprung's Disease and Allied Disorders , pp. 137-145
    • Brown, R.A.1    Cywes, S.2
  • 13
    • 0036245790 scopus 로고    scopus 로고
    • Hirschsprung's disease: Functional and psychological follow up comparing total colonic and rectosigmoid aganglionosis
    • Ludman L., Spitz L., Tsuji H., Pierro A. Hirschsprung's disease: functional and psychological follow up comparing total colonic and rectosigmoid aganglionosis. Arch. Dis. Child. 86:2002;348-351.
    • (2002) Arch. Dis. Child , vol.86 , pp. 348-351
    • Ludman, L.1    Spitz, L.2    Tsuji, H.3    Pierro, A.4
  • 14
    • 0032905814 scopus 로고    scopus 로고
    • Management and long-term follow-up of infants with total colonic aganglionosis
    • (discussion 162)
    • Tsuji H., Spitz L., Kiely E.M., Drake D.P., Pierro A. Management and long-term follow-up of infants with total colonic aganglionosis. J. Pediatr. Surg. 34:1999;158-161. (discussion 162).
    • (1999) J. Pediatr. Surg. , vol.34 , pp. 158-161
    • Tsuji, H.1    Spitz, L.2    Kiely, E.M.3    Drake, D.P.4    Pierro, A.5
  • 15
    • 0032792917 scopus 로고    scopus 로고
    • Long-term outcome after Hirschsprung's disease: Patients' perspectives
    • Yanchar N.L., Soucy P. Long-term outcome after Hirschsprung's disease: patients' perspectives. J. Pediatr. Surg. 34:1999;1152-1160.
    • (1999) J. Pediatr. Surg. , vol.34 , pp. 1152-1160
    • Yanchar, N.L.1    Soucy, P.2
  • 16
    • 0028876789 scopus 로고
    • Intestinal neuronal dysplasia is a possible cause of persistent bowel symptoms after pull-through operation for Hirschsprung's disease
    • (discussions 257-259)
    • Kobayashi H., Hirakawa H., Surana R., O'Briain D.S., Puri P. Intestinal neuronal dysplasia is a possible cause of persistent bowel symptoms after pull-through operation for Hirschsprung's disease. J. Pediatr. Surg. 30:1995;253-257. (discussions 257-259).
    • (1995) J. Pediatr. Surg. , vol.30 , pp. 253-257
    • Kobayashi, H.1    Hirakawa, H.2    Surana, R.3    O'Briain, D.S.4    Puri, P.5
  • 17
    • 0020973712 scopus 로고
    • Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis
    • Fadda B., Maier W.A., Meier-Ruge W., Scharli A., Daum R. Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis. Zeitsch. Kinderchirur. 38:1983;305-311.
    • (1983) Zeitsch. Kinderchirur. , vol.38 , pp. 305-311
    • Fadda, B.1    Maier, W.A.2    Meier-Ruge, W.3    Scharli, A.4    Daum, R.5
  • 20
    • 0036674973 scopus 로고    scopus 로고
    • Altered distribution of interstitial cells of Cajal in Hirschsprung disease
    • Rolle U., Piotrowska A.P., Nemeth L., Puri P. Altered distribution of interstitial cells of Cajal in Hirschsprung disease. Arch. Pathol. Laborat. Med. 126:2002;928-933.
    • (2002) Arch. Pathol. Laborat. Med. , vol.126 , pp. 928-933
    • Rolle, U.1    Piotrowska, A.P.2    Nemeth, L.3    Puri, P.4
  • 24
    • 0025937249 scopus 로고
    • Some neuronal cell populations express human dopamine beta-hydroxylase-lacZ transgenes transiently during embryonic development
    • Kapur R.P., Hoyle G.W., Mercer E.H., Brinster R.L., Palmiter R.D. Some neuronal cell populations express human dopamine beta-hydroxylase-lacZ transgenes transiently during embryonic development. Neuron. 7:1991;717-727.
    • (1991) Neuron , vol.7 , pp. 717-727
    • Kapur, R.P.1    Hoyle, G.W.2    Mercer, E.H.3    Brinster, R.L.4    Palmiter, R.D.5
  • 25
    • 0030065375 scopus 로고    scopus 로고
    • Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts
    • Durbec P.L., Larsson-Blomber L.B., Schuchardt A., Costantini F., Pachnis V. Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts. Development. 122:1996;349-358.
    • (1996) Development , vol.122 , pp. 349-358
    • Durbec, P.L.1    Larsson-Blomber, L.B.2    Schuchardt, A.3    Costantini, F.4    Pachnis, V.5
  • 26
    • 0034330936 scopus 로고    scopus 로고
    • Colonization of the murine hindgut by sacral crest-derived neural precursors: Experimental support for an evolutionarily conserved model
    • Kapur R.P. Colonization of the murine hindgut by sacral crest-derived neural precursors: experimental support for an evolutionarily conserved model. Dev. Biol. 227:2000;146-155.
    • (2000) Dev. Biol. , vol.227 , pp. 146-155
    • Kapur, R.P.1
  • 27
    • 0034163569 scopus 로고    scopus 로고
    • Sacral neural crest cells colonise aganglionic hindgut in vivo but fail to compensate for lack of enteric ganglia
    • Burns A.J., Champeval D., Le Douarin N.M. Sacral neural crest cells colonise aganglionic hindgut in vivo but fail to compensate for lack of enteric ganglia. Dev. Biol. 219:2000;30-43.
    • (2000) Dev. Biol. , vol.219 , pp. 30-43
    • Burns, A.J.1    Champeval, D.2    Le Douarin, N.M.3
  • 28
    • 0031794665 scopus 로고    scopus 로고
    • The sacral neural crest contributes neurons and glia to the post-umbilical gut: Spatiotemporal analysis of the development of the enteric nervous system
    • Burns A.J., Douarin N.M. The sacral neural crest contributes neurons and glia to the post-umbilical gut: spatiotemporal analysis of the development of the enteric nervous system. Development. 125:1998;4335-4347.
    • (1998) Development , vol.125 , pp. 4335-4347
    • Burns, A.J.1    Douarin, N.M.2
  • 29
    • 0025904992 scopus 로고
    • Vital dye labelling demonstrates a sacral neural crest contribution to the enteric nervous system of chick and mouse embryos
    • Serbedzija G.N., Burgan S., Fraser S.E., Bronner-Fraser M. Vital dye labelling demonstrates a sacral neural crest contribution to the enteric nervous system of chick and mouse embryos. Development. 111:1991;857-866.
    • (1991) Development , vol.111 , pp. 857-866
    • Serbedzija, G.N.1    Burgan, S.2    Fraser, S.E.3    Bronner-Fraser, M.4
  • 30
    • 0025931044 scopus 로고
    • Expression of a neurally related laminin binding protein by neural crest-derived cells that colonize the gut: Relationship to the formation of enteric ganglia
    • Pomeranz H.D., Sherman D.L., Smalheiser N.R., Tennyson V.M., Gershon M.D. Expression of a neurally related laminin binding protein by neural crest-derived cells that colonize the gut: relationship to the formation of enteric ganglia. J. Comp. Neurol. 13:1991;625-642.
    • (1991) J. Comp. Neurol. , vol.13 , pp. 625-642
    • Pomeranz, H.D.1    Sherman, D.L.2    Smalheiser, N.R.3    Tennyson, V.M.4    Gershon, M.D.5
  • 42
    • 0033054334 scopus 로고    scopus 로고
    • Co-segregation of MEN2 and Hirschsprung's disease: The same mutation of RET with both gain and loss-of-function
    • Takahashi M., HIwashita T., Santoro M., Lyonnet S., Lenoir G.M., Billaud M. Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function. Hum. Mutat. 13:1999;331-336.
    • (1999) Hum. Mutat. , vol.13 , pp. 331-336
    • Takahashi, M.1    Hiwashita, T.2    Santoro, M.3    Lyonnet, S.4    Lenoir, G.M.5    Billaud, M.6
  • 45
    • 0028174023 scopus 로고
    • Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
    • Schuchardt A., D'Agati V., Larsson-Blomberg L., Costantini F., Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature. 367:1994;380-383.
    • (1994) Nature , vol.367 , pp. 380-383
    • Schuchardt, A.1    D'Agati, V.2    Larsson-Blomberg, L.3    Costantini, F.4    Pachnis, V.5
  • 47
    • 17144449393 scopus 로고    scopus 로고
    • Glial cell line-derived neurotrophic factor receptor alpha1 availability regulates glial cell line-derived neurotrophic factor signaling: Evidence from mice carrying one or two mutated alleles
    • Tomac A.C., Grinberg A., Huang S.P., Nosrat C., Wang Y., Borlongan C., Lin S.Z., Chiang Y.H., Olson L., Westphal H., Hoffer B.J. Glial cell line-derived neurotrophic factor receptor alpha1 availability regulates glial cell line-derived neurotrophic factor signaling: evidence from mice carrying one or two mutated alleles. Neuroscience. 95:2000;1011-1023.
    • (2000) Neuroscience , vol.95 , pp. 1011-1023
    • Tomac, A.C.1    Grinberg, A.2    Huang, S.P.3    Nosrat, C.4    Wang, Y.5    Borlongan, C.6    Lin, S.Z.7    Chiang, Y.H.8    Olson, L.9    Westphal, H.10    Hoffer, B.J.11
  • 48
    • 0032903373 scopus 로고    scopus 로고
    • Multipotential progenitors of the mammalian enteric nervous system capable of colonising aganglionic bowel in organ culture
    • Natarajan D., Grigoriou M., Marcos-Gutierrez C.V., Atkins C., Pachnis V. Multipotential progenitors of the mammalian enteric nervous system capable of colonising aganglionic bowel in organ culture. Dev. Suppl. 126:1999;157-168.
    • (1999) Dev. Suppl. , vol.126 , pp. 157-168
    • Natarajan, D.1    Grigoriou, M.2    Marcos-Gutierrez, C.V.3    Atkins, C.4    Pachnis, V.5
  • 54
    • 0030070810 scopus 로고    scopus 로고
    • Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population
    • Auricchio A., Casari G., Staiano A., Ballabio A. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum. Mol. Genet. 5:1996;351-354.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 351-354
    • Auricchio, A.1    Casari, G.2    Staiano, A.3    Ballabio, A.4
  • 55
    • 0036788576 scopus 로고    scopus 로고
    • Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
    • Carrasquillo M.M., McCallion A.S., Puffenberger E.G., Kashuk C.S., Nouri N., Chakravarti A. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat. Genet. 32:2002;237-244.
    • (2002) Nat. Genet. , vol.32 , pp. 237-244
    • Carrasquillo, M.M.1    McCallion, A.S.2    Puffenberger, E.G.3    Kashuk, C.S.4    Nouri, N.5    Chakravarti, A.6
  • 56
    • 0032080580 scopus 로고    scopus 로고
    • GDNF and ET-3 differentially modulate the numbers of avian enteric neural crest cells and enteric neurons in vitro
    • Hearn C.J., Murphy M., Newgreen D. GDNF and ET-3 differentially modulate the numbers of avian enteric neural crest cells and enteric neurons in vitro. Dev. Biol. 197:1998;93-105.
    • (1998) Dev. Biol. , vol.197 , pp. 93-105
    • Hearn, C.J.1    Murphy, M.2    Newgreen, D.3
  • 57
    • 0032938812 scopus 로고    scopus 로고
    • Inhibition of in vitro enteric neuronal development by endothelin-3: Mediation by endothelin B receptors
    • Wu J.J., Chen J.X., Rothman T.P., Gershon M.D. Inhibition of in vitro enteric neuronal development by endothelin-3: mediation by endothelin B receptors. Development. 126:1999;1161-1173.
    • (1999) Development , vol.126 , pp. 1161-1173
    • Wu, J.J.1    Chen, J.X.2    Rothman, T.P.3    Gershon, M.D.4
  • 61
    • 0032833425 scopus 로고    scopus 로고
    • Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation
    • Inoue K., Tanabe Y., Lupski J.R. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann. Neurol. 46:1999;313-318.
    • (1999) Ann. Neurol. , vol.46 , pp. 313-318
    • Inoue, K.1    Tanabe, Y.2    Lupski, J.R.3
  • 62
    • 0032727413 scopus 로고    scopus 로고
    • Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10Dom/sox10Dom mouse embryos
    • Kapur R.P. Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10Dom/sox10Dom mouse embryos. Pediatr. Dev. Pathol. 2:1999;559-569.
    • (1999) Pediatr. Dev. Pathol. , vol.2 , pp. 559-569
    • Kapur, R.P.1
  • 63
    • 0031984825 scopus 로고    scopus 로고
    • Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
    • Southard-Smith E.M., Kos L., Pavan W.J. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat. Genet. 18:1998;60-64.
    • (1998) Nat. Genet. , vol.18 , pp. 60-64
    • Southard-Smith, E.M.1    Kos, L.2    Pavan, W.J.3
  • 70
    • 0036124458 scopus 로고    scopus 로고
    • Abnormal endothelin B receptor vasomotor responses in patients with Hirschsprung's disease
    • Newby D.E., Strachan F.E., Webb D.J. Abnormal endothelin B receptor vasomotor responses in patients with Hirschsprung's disease. Qjm. 95:2002;159-163.
    • (2002) Qjm , vol.95 , pp. 159-163
    • Newby, D.E.1    Strachan, F.E.2    Webb, D.J.3
  • 71
    • 0034115269 scopus 로고    scopus 로고
    • Survival of neurons and interstitial cells of Cajal after autotransplantation of myenteric ganglia from small intestine in the lethal spotted mouse
    • Sandgren K., Ekblad E., Larsson L.T. Survival of neurons and interstitial cells of Cajal after autotransplantation of myenteric ganglia from small intestine in the lethal spotted mouse. Pediatr. Surg. Int. 16:2000;272-276.
    • (2000) Pediatr. Surg. Int. , vol.16 , pp. 272-276
    • Sandgren, K.1    Ekblad, E.2    Larsson, L.T.3
  • 72
    • 0037104626 scopus 로고    scopus 로고
    • Cell-Intrinsic differences between stem cells from different regions of the peripheral nervous system regulate the generation of neural diversity
    • Bixby S., Kruger G.M., Mosher J.T., Joseph N.M., Morrison S.J. Cell-Intrinsic differences between stem cells from different regions of the peripheral nervous system regulate the generation of neural diversity. Neuron. 35:2002;643-656.
    • (2002) Neuron , vol.35 , pp. 643-656
    • Bixby, S.1    Kruger, G.M.2    Mosher, J.T.3    Joseph, N.M.4    Morrison, S.J.5
  • 73
    • 0037104668 scopus 로고    scopus 로고
    • Neural crest stem cells persist in the adult gut but undergo changes in self-renewal, neuronal subtype potential, and factor responsiveness
    • Kruger G.M., Mosher J.T., Bixby S., Joseph N.M., Iwashita T., Morrison S.J. Neural crest stem cells persist in the adult gut but undergo changes in self-renewal, neuronal subtype potential, and factor responsiveness. Neuron. 35:2002;657-669.
    • (2002) Neuron , vol.35 , pp. 657-669
    • Kruger, G.M.1    Mosher, J.T.2    Bixby, S.3    Joseph, N.M.4    Iwashita, T.5    Morrison, S.J.6
  • 75
    • 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.A., Chakravarti A. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat. Genet. 14:1996;341-344.
    • (1996) Nat. Genet. , vol.14 , pp. 341-344
    • Angrist, M.1    Bolk, S.2    Halushka, M.3    Lapchak, P.A.4    Chakravarti, A.5
  • 76
    • 0029822720 scopus 로고    scopus 로고
    • De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease
    • Ivanchuk S.M., Myers S.M., Eng C., Mulligan L.M. De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. Hum. Mol. Genet. 5:1996;2023-2026.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 2023-2026
    • Ivanchuk, S.M.1    Myers, S.M.2    Eng, C.3    Mulligan, L.M.4
  • 77
    • 0030029691 scopus 로고    scopus 로고
    • Endothelin receptor-mediated signaling in Hirschsprung disease
    • Chakravarti A. Endothelin receptor-mediated signaling in Hirschsprung disease. Hum. Molec. Genet. 5:1996;303-307.
    • (1996) Hum. Molec. Genet. , vol.5 , pp. 303-307
    • Chakravarti, A.1
  • 78
    • 0030022843 scopus 로고    scopus 로고
    • Novel mutations of the endothelin-b receptor gene in isolated patients with Hirschsprung's disease
    • Kusafuka T., Wang Y., Puri P. Novel mutations of the endothelin-b receptor gene in isolated patients with Hirschsprung's disease. Hum. Mol. Genet. 5:1996;347-349.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 347-349
    • Kusafuka, T.1    Wang, Y.2    Puri, P.3
  • 80
    • 0034845504 scopus 로고    scopus 로고
    • A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome
    • Boardman J.P., Syrris P., Holder S.E., Robertson N.J., Carter N., Lakhoo K. A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. J. Med. Genet. 38:2001;646-647.
    • (2001) J. Med. Genet. , vol.38 , pp. 646-647
    • Boardman, J.P.1    Syrris, P.2    Holder, S.E.3    Robertson, N.J.4    Carter, N.5    Lakhoo, K.6
  • 81
    • 0033527619 scopus 로고    scopus 로고
    • Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease
    • Syrris P., Carter N.D., Patton M.A. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. Am. J. Med. Genet. 87:1999;69-71.
    • (1999) Am. J. Med. Genet. , vol.87 , pp. 69-71
    • Syrris, P.1    Carter, N.D.2    Patton, M.A.3
  • 83
    • 0030962660 scopus 로고    scopus 로고
    • Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease
    • Kusafuka T., Wang Y., Puri P. Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease. J. Pediatr. Surg. 32:1997;501-504.
    • (1997) J. Pediatr. Surg. , vol.32 , pp. 501-504
    • Kusafuka, T.1    Wang, Y.2    Puri, P.3
  • 84
    • 0035088039 scopus 로고    scopus 로고
    • A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: Is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
    • Pingault V., Bondurand N., Lemort N., Sancandi M., Ceccherini I., Hugot J.P. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? J. Med. Genet. 38:2001;205-209.
    • (2001) J. Med. Genet. , vol.38 , pp. 205-209
    • Pingault, V.1    Bondurand, N.2    Lemort, N.3    Sancandi, M.4    Ceccherini, I.5    Hugot, J.P.6
  • 85
    • 0033366516 scopus 로고    scopus 로고
    • A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction
    • Hofstra R.M., Valdenaire O., Arch E., Osinga J., Kroes H., Loffler B.M., Hamosh A., Meijers C., Buys C.H. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am. J. Hum. Genet. 64:1999;304-308.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 304-308
    • Hofstra, R.M.1    Valdenaire, O.2    Arch, E.3    Osinga, J.4    Kroes, H.5    Loffler, B.M.6    Hamosh, A.7    Meijers, C.8    Buys, C.H.9
  • 86
    • 19244374248 scopus 로고    scopus 로고
    • Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
    • Sham M.H., Lui V.C., Chen B.L., Fu M., Tam P.K. Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. J. Med. Genet. 38:2001;E30.
    • (2001) J. Med. Genet. , vol.38 , pp. 30
    • Sham, M.H.1    Lui, V.C.2    Chen, B.L.3    Fu, M.4    Tam, P.K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.