Heuckeroth RO (March 2018). "Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes". Nature Reviews. Gastroenterology & Hepatology. 15 (3): 152–167. doi:10.1038/nrgastro.2017.149. PMID29300049. S2CID3303746.
Mäkitie O, Heikkinen M, Kaitila I, Rintala R (2002). "Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis". J Pediatr Surg. 37 (11): 1585–8. doi:10.1053/jpsu.2002.36189. PMID12407544.
de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J (2007). "Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease". Human Mutation. 28 (8): 790–6. doi:10.1002/humu.20517. PMID17397038. S2CID25686389.
Martucciello G, Ceccherini I, Lerone M, Jasonni V (2000). "Pathogenesis of Hirschsprung's disease". Journal of Pediatric Surgery. 35 (7): 1017–1025. doi:10.1053/jpsu.2000.7763. PMID10917288.
Yang J, Duan S, Zhong R, Yin J, Pu J, Ke J, Lu X, Zou L, Zhang H, Zhu Z, Wang D, Xiao H, Guo A, Xia J, Miao X, Tang S, Wang G (2013). "Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population". Mol. Neurobiol. 47 (3): 957–66. doi:10.1007/s12035-012-8392-4. PMID23315268. S2CID16842806.
Dobbins WO, Bill AH (1965). "Diagnosis of Hirschsprung's Disease Excluded by Rectal Suction Biopsy". New England Journal of Medicine. 272 (19): 990–993. doi:10.1056/NEJM196505132721903. PMID14279253.
Kim HJ, Kim AY, Lee CW, Yu CS, Kim JS, Kim PN, Lee MG, Ha HK (2008). "Hirschsprung disease and hypoganglionosis in adults: radiologic findings and differentiation". Radiology. 247 (2): 428–34. doi:10.1148/radiol.2472070182. PMID18430875.
Hope, John W.; Borns, Patricia Flint; Berg, Paul K. (September 1965). "Roentgenologic Manifestations of Hirschsprung's Disease in Infancy". American Journal of Roentgenology. 95 (1): 217–229. doi:10.2214/ajr.95.1.217. PMID14344366.
Martucciello G; Bicocchi MP; Dodero P.; Lerone M.; Silengo Cirillo M; Puliti A; Gimelli G; Romeo G. (1992). "Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10". Pediatric Surgery International. 7 (4): 308–310. doi:10.1007/BF00183991. S2CID40123658.
Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H (1994). "Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease". Nature. 367 (6461): 377–378. Bibcode:1994Natur.367..377R. doi:10.1038/367377a0. PMID8114938. S2CID157274.
Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE (1993). "A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10". Nat. Genet. 4 (4): 351–6. doi:10.1038/ng0893-351. PMID8401581. S2CID22031571.
Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard ML, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G (1993). "A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10". Nat. Genet. 4 (4): 346–50. doi:10.1038/ng0893-346. PMID8401580. S2CID29089707.
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Heuckeroth RO (March 2018). "Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes". Nature Reviews. Gastroenterology & Hepatology. 15 (3): 152–167. doi:10.1038/nrgastro.2017.149. PMID29300049. S2CID3303746.
Mäkitie O, Heikkinen M, Kaitila I, Rintala R (2002). "Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis". J Pediatr Surg. 37 (11): 1585–8. doi:10.1053/jpsu.2002.36189. PMID12407544.
de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J (2007). "Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease". Human Mutation. 28 (8): 790–6. doi:10.1002/humu.20517. PMID17397038. S2CID25686389.
Martucciello G, Ceccherini I, Lerone M, Jasonni V (2000). "Pathogenesis of Hirschsprung's disease". Journal of Pediatric Surgery. 35 (7): 1017–1025. doi:10.1053/jpsu.2000.7763. PMID10917288.
Yang J, Duan S, Zhong R, Yin J, Pu J, Ke J, Lu X, Zou L, Zhang H, Zhu Z, Wang D, Xiao H, Guo A, Xia J, Miao X, Tang S, Wang G (2013). "Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population". Mol. Neurobiol. 47 (3): 957–66. doi:10.1007/s12035-012-8392-4. PMID23315268. S2CID16842806.
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Kim HJ, Kim AY, Lee CW, Yu CS, Kim JS, Kim PN, Lee MG, Ha HK (2008). "Hirschsprung disease and hypoganglionosis in adults: radiologic findings and differentiation". Radiology. 247 (2): 428–34. doi:10.1148/radiol.2472070182. PMID18430875.
Hope, John W.; Borns, Patricia Flint; Berg, Paul K. (September 1965). "Roentgenologic Manifestations of Hirschsprung's Disease in Infancy". American Journal of Roentgenology. 95 (1): 217–229. doi:10.2214/ajr.95.1.217. PMID14344366.
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Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE (1993). "A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10". Nat. Genet. 4 (4): 351–6. doi:10.1038/ng0893-351. PMID8401581. S2CID22031571.
Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard ML, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G (1993). "A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10". Nat. Genet. 4 (4): 346–50. doi:10.1038/ng0893-346. PMID8401580. S2CID29089707.
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Heuckeroth RO (March 2018). "Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes". Nature Reviews. Gastroenterology & Hepatology. 15 (3): 152–167. doi:10.1038/nrgastro.2017.149. PMID29300049. S2CID3303746.
de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J (2007). "Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease". Human Mutation. 28 (8): 790–6. doi:10.1002/humu.20517. PMID17397038. S2CID25686389.
Yang J, Duan S, Zhong R, Yin J, Pu J, Ke J, Lu X, Zou L, Zhang H, Zhu Z, Wang D, Xiao H, Guo A, Xia J, Miao X, Tang S, Wang G (2013). "Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population". Mol. Neurobiol. 47 (3): 957–66. doi:10.1007/s12035-012-8392-4. PMID23315268. S2CID16842806.
Martucciello G; Bicocchi MP; Dodero P.; Lerone M.; Silengo Cirillo M; Puliti A; Gimelli G; Romeo G. (1992). "Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10". Pediatric Surgery International. 7 (4): 308–310. doi:10.1007/BF00183991. S2CID40123658.
Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kääriäinen H (1994). "Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease". Nature. 367 (6461): 377–378. Bibcode:1994Natur.367..377R. doi:10.1038/367377a0. PMID8114938. S2CID157274.
Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE (1993). "A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10". Nat. Genet. 4 (4): 351–6. doi:10.1038/ng0893-351. PMID8401581. S2CID22031571.
Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard ML, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G (1993). "A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10". Nat. Genet. 4 (4): 346–50. doi:10.1038/ng0893-346. PMID8401580. S2CID29089707.
"Hirschsprung's disease". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. 2017. Archived from the original on 24 November 2018. Retrieved 14 December 2017.
