Doença de Hirschsprung (Portuguese Wikipedia)
Analysis of information sources in references of the Wikipedia article "Doença de Hirschsprung" in Portuguese language version.
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aafp.org
- Kimura, Ken; Loening-Baucke, Vera (1 de novembro de 1999). «Failure to Pass Meconium: Diagnosing Neonatal Intestinal Obstruction». American Family Physician (em inglês). 60 (7): 2043–50. ISSN 0002-838X. PMID 10569507
books.google.com
- Holschneider, Alexander Matthias; Puri, Prem (2007). Hirschsprung's Disease and Allied Disorders (em inglês). [S.l.]: Springer Science & Business Media. ISBN 9783540339359
- Eli Ehrenpreis (outubro de 2003). Anal and rectal diseases explained. [S.l.]: Remedica. pp. 15–. ISBN 978-1-901346-67-1. Consultado em 12 de novembro de 2010
- W. Allan Walker (1 de julho de 2004). Pediatric gastrointestinal disease: pathophysiology, diagnosis, management. [S.l.]: PMPH-USA. pp. 2120–. ISBN 978-1-55009-240-0. Consultado em 12 de novembro de 2010
- Timothy R. Koch (2003). Colonic diseases. [S.l.]: Humana Press. pp. 387–. ISBN 978-0-89603-961-2. Consultado em 12 de novembro de 2010
doi.org
dx.doi.org
- 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. PMID 12407544. doi:10.1053/jpsu.2002.36189
- 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. PMID 17397038. doi:10.1002/humu.20517
- Saunders CJ, Zhao W, Ardinger HH (2009). «Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics». American Journal of Medical Genetics. 149A (11): 2527–31. PMID 19842203. doi:10.1002/ajmg.a.33067
- Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, Perrusson O, El Ghoneimi A (2009). «Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome». Journal of Pediatric Surgery. 44 (3): 587–91. PMID 19302864. doi:10.1016/j.jpedsurg.2008.10.066
- Mueller C, Patel S, Irons M, Antshel K, Salen G, Tint GS, Bay C (2003). «Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease». American Journal of Medical Genetics. 123A (1): 100–6. PMC 1201564
. PMID 14556255. doi:10.1002/ajmg.a.20491 - Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V (2005). «Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome». European Journal of Human Genetics. 13 (9): 1013–8. PMID 15915162. doi:10.1038/sj.ejhg.5201442
- Martucciello G, Ceccherini I, Lerone M, Jasonni V (2000). «Pathogenesis of Hirschsprung's disease». Journal of Pediatric Surgery. 35 (7): 1017–1025. PMID 10917288. doi:10.1053/jpsu.2000.7763
- Puri P, Shinkai T (2004). «Pathogenesis of Hirschsprung's disease and its variants: recent progress». Semin. Pediatr. Surg. 13 (1): 18–24. PMID 14765367. doi:10.1053/j.sempedsurg.2003.09.004
- Garcia-Barcelo, Maria-Merce (2009). «Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease». Proc. Natl. Acad. Sci. USA. 106 (8): 2694–2699. Bibcode:2009PNAS..106.2694G. PMC 2650328. PMID 19196962. doi:10.1073/pnas.0809630105
- Tang, Clara (10 de maio de 2012). «Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.». PLOS Genet. 8 (5): e1002687. PMC 3349728. PMID 22589734. doi:10.1371/journal.pgen.1002687
- 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. PMID 23315268. doi:10.1007/s12035-012-8392-4
- Kays DW (1996). «Surgical conditions of the neonatal intestinal tract». Clinics in Perinatology. 23 (2): 353–75. PMID 8780909. doi:10.1016/S0095-5108(18)30246-X
- Metallinos DL, Bowling AT, Rine J (junho de 1998). «A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease». Mamm. Genome. 9 (6): 426–31. PMID 9585428. doi:10.1007/s003359900790. Cópia arquivada em 16 de setembro de 2000
- Dobbins WO, Bill AH (1965). «Diagnosis of Hirschsprung's Disease Excluded by Rectal Suction Biopsy». New England Journal of Medicine. 272 (19): 990–993. PMID 14279253. doi:10.1056/NEJM196505132721903
- Martucciello G, Pini Prato A, Puri P, Holschneider AM, Meier-Ruge W, Jasonni V, Tovar JA, Grosfeld JL (2005). «Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies». J Pediatr Surg. 40 (10): 1527–31. PMID 16226977. doi:10.1016/j.jpedsurg.2005.07.053
- 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. PMID 18430875. doi:10.1148/radiol.2472070182
- Hope, John W.; Borns, Patricia Flint; Berg, Paul K. (setembro de 1965). «Roentgenologic Manifestations of Hirschsprung's Disease in Infancy». American Journal of Roentgenology. 95 (1): 217–229. PMID 14344366. doi:10.2214/ajr.95.1.217
- Tannuri, Uenis; Tannuri, Ana Cristina Aoun (abril de 2007). «Megacolo congênito no recém-nascido: qual o melhor tratamento?». Revista da Associação Médica Brasileira: 100–101. ISSN 0104-4230. doi:10.1590/S0104-42302007000200008. Consultado em 31 de dezembro de 2021
- Kfouri, Cláudio Franco do Amaral; AcCBC-SP; Romania, Maria Clara Ferreira Nonato; Wandeur, Tayna Rodrigues; Leal, Luana Queiroz; Camargo, Amanda Vermelho Leão; Santos, Cíntia Cristina Pereira dos; Ignácio, Gabriela Pastre de Oliveira; Batista, Leandro Ruas (21 de setembro de 2018). «Doença de Hirschsprung com aganglionose colônica total associado a sinais clínicos atípicos em um recém-nascido». Revista Relato de Casos do CBC (4): 1–6. doi:10.30928/2527-2039e-20182009. Consultado em 31 de dezembro de 2021
- Swenson O (1989). «My early experience with Hirschsprung's disease». J. Pediatr. Surg. 24 (8): 839–44; discussion 844–5. PMID 2671336. doi:10.1016/S0022-3468(89)80549-4
- Malone PS, Ransley PG, Kiely EM (1990). «Preliminary report: the antegrade continence enema». Lancet. 336 (8725): 1217–1218. PMID 1978072. doi:10.1016/0140-6736(90)92834-5
- Goldberg EL (1984). «An epidemiological study of Hirschsprung's disease». Int J Epidemiol. 13 (4): 479–85. PMID 6240474. doi:10.1093/ije/13.4.479
- Suita S, Taguchi T, Ieiri S, Nakatsuji T (2005). «Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years». Journal of Pediatric Surgery. 40 (1): 197–201; discussion 201–2. PMID 15868585. doi:10.1016/j.jpedsurg.2004.09.052
- 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
- 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. PMID 8114938. doi:10.1038/367377a0
- 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. PMID 8401581. doi:10.1038/ng0893-351
- 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. PMID 8401580. doi:10.1038/ng0893-346
eapsa.org
- «Hirschsprung disease». American Pediatric Surgical Association. Consultado em 11 de junho de 2019
harvard.edu
ui.adsabs.harvard.edu
- Garcia-Barcelo, Maria-Merce (2009). «Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease». Proc. Natl. Acad. Sci. USA. 106 (8): 2694–2699. Bibcode:2009PNAS..106.2694G. PMC 2650328. PMID 19196962. doi:10.1073/pnas.0809630105
- 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. PMID 8114938. doi:10.1038/367377a0
medscape.com
medscape.com
- Walsh RA, Koyle MA, Waxman SW (2000). «The Malone ACE Procedure for Fecal Incontinence». Infections in Urology. 13 (4)
- «What is the pathophysiology of Hirschsprung disease?»
emedicine.medscape.com
- «Hirschsprung Disease: Background, Pathophysiology, Epidemiology». 8 de janeiro de 2017
nature.com
- Chial, H (2008). «Proto-oncogenes to Oncogenes to Cancer». Nature Education. 1. 33 páginas
nih.gov
ncbi.nlm.nih.gov
- Kimura, Ken; Loening-Baucke, Vera (1 de novembro de 1999). «Failure to Pass Meconium: Diagnosing Neonatal Intestinal Obstruction». American Family Physician (em inglês). 60 (7): 2043–50. ISSN 0002-838X. PMID 10569507
- OMIM 142623
- 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. PMID 12407544. doi:10.1053/jpsu.2002.36189
- 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. PMID 17397038. doi:10.1002/humu.20517
- Saunders CJ, Zhao W, Ardinger HH (2009). «Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics». American Journal of Medical Genetics. 149A (11): 2527–31. PMID 19842203. doi:10.1002/ajmg.a.33067
- Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, Perrusson O, El Ghoneimi A (2009). «Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome». Journal of Pediatric Surgery. 44 (3): 587–91. PMID 19302864. doi:10.1016/j.jpedsurg.2008.10.066
- Mueller C, Patel S, Irons M, Antshel K, Salen G, Tint GS, Bay C (2003). «Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease». American Journal of Medical Genetics. 123A (1): 100–6. PMC 1201564. PMID 14556255. doi:10.1002/ajmg.a.20491
- Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V (2005). «Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome». European Journal of Human Genetics. 13 (9): 1013–8. PMID 15915162. doi:10.1038/sj.ejhg.5201442
- Martucciello G, Ceccherini I, Lerone M, Jasonni V (2000). «Pathogenesis of Hirschsprung's disease». Journal of Pediatric Surgery. 35 (7): 1017–1025. PMID 10917288. doi:10.1053/jpsu.2000.7763
- Puri P, Shinkai T (2004). «Pathogenesis of Hirschsprung's disease and its variants: recent progress». Semin. Pediatr. Surg. 13 (1): 18–24. PMID 14765367. doi:10.1053/j.sempedsurg.2003.09.004
- Garcia-Barcelo, Maria-Merce (2009). «Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease». Proc. Natl. Acad. Sci. USA. 106 (8): 2694–2699. Bibcode:2009PNAS..106.2694G. PMC 2650328. PMID 19196962. doi:10.1073/pnas.0809630105
- Tang, Clara (10 de maio de 2012). «Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.». PLOS Genet. 8 (5): e1002687. PMC 3349728. PMID 22589734. doi:10.1371/journal.pgen.1002687
- 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. PMID 23315268. doi:10.1007/s12035-012-8392-4
- Parisi MA; Pagon, RA; Bird, TD; Dolan, CR; Stephens, K; Adam, MP (2002). «Hirschsprung Disease Overview». GeneReviews. PMID 20301612
- Kays DW (1996). «Surgical conditions of the neonatal intestinal tract». Clinics in Perinatology. 23 (2): 353–75. PMID 8780909. doi:10.1016/S0095-5108(18)30246-X
- Metallinos DL, Bowling AT, Rine J (junho de 1998). «A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease». Mamm. Genome. 9 (6): 426–31. PMID 9585428. doi:10.1007/s003359900790. Cópia arquivada em 16 de setembro de 2000
- Dobbins WO, Bill AH (1965). «Diagnosis of Hirschsprung's Disease Excluded by Rectal Suction Biopsy». New England Journal of Medicine. 272 (19): 990–993. PMID 14279253. doi:10.1056/NEJM196505132721903
- Martucciello G, Pini Prato A, Puri P, Holschneider AM, Meier-Ruge W, Jasonni V, Tovar JA, Grosfeld JL (2005). «Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies». J Pediatr Surg. 40 (10): 1527–31. PMID 16226977. doi:10.1016/j.jpedsurg.2005.07.053
- 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. PMID 18430875. doi:10.1148/radiol.2472070182
- Hope, John W.; Borns, Patricia Flint; Berg, Paul K. (setembro de 1965). «Roentgenologic Manifestations of Hirschsprung's Disease in Infancy». American Journal of Roentgenology. 95 (1): 217–229. PMID 14344366. doi:10.2214/ajr.95.1.217
- Swenson O (1989). «My early experience with Hirschsprung's disease». J. Pediatr. Surg. 24 (8): 839–44; discussion 844–5. PMID 2671336. doi:10.1016/S0022-3468(89)80549-4
- Malone PS, Ransley PG, Kiely EM (1990). «Preliminary report: the antegrade continence enema». Lancet. 336 (8725): 1217–1218. PMID 1978072. doi:10.1016/0140-6736(90)92834-5
- Goldberg EL (1984). «An epidemiological study of Hirschsprung's disease». Int J Epidemiol. 13 (4): 479–85. PMID 6240474. doi:10.1093/ije/13.4.479
- Suita S, Taguchi T, Ieiri S, Nakatsuji T (2005). «Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years». Journal of Pediatric Surgery. 40 (1): 197–201; discussion 201–2. PMID 15868585. doi:10.1016/j.jpedsurg.2004.09.052
- Worman S, Ganiats TG (1995). «Hirschsprung's disease: a cause of chronic constipation in children». Am Fam Physician. 51 (2): 487–94. PMID 7840044
- 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. PMID 8114938. doi:10.1038/367377a0
- 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. PMID 8401581. doi:10.1038/ng0893-351
- 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. PMID 8401580. doi:10.1038/ng0893-346
ghr.nlm.nih.gov
- «Hirschsprung disease». Genetics Home Reference (em inglês). Agosto de 2012. Consultado em 14 de dezembro de 2017
rarediseases.info.nih.gov
- «Hirschsprung's disease». Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (em inglês). 2017. Consultado em 14 de dezembro de 2017
rarediseases.org
- «Hirschsprung Disease». NORD (National Organization for Rare Disorders). 2017. Consultado em 14 de dezembro de 2017
relatosdocbc.org.br
- Kfouri, Cláudio Franco do Amaral; AcCBC-SP; Romania, Maria Clara Ferreira Nonato; Wandeur, Tayna Rodrigues; Leal, Luana Queiroz; Camargo, Amanda Vermelho Leão; Santos, Cíntia Cristina Pereira dos; Ignácio, Gabriela Pastre de Oliveira; Batista, Leandro Ruas (21 de setembro de 2018). «Doença de Hirschsprung com aganglionose colônica total associado a sinais clínicos atípicos em um recém-nascido». Revista Relato de Casos do CBC (4): 1–6. doi:10.30928/2527-2039e-20182009. Consultado em 31 de dezembro de 2021
scielo.br
- Tannuri, Uenis; Tannuri, Ana Cristina Aoun (abril de 2007). «Megacolo congênito no recém-nascido: qual o melhor tratamento?». Revista da Associação Médica Brasileira: 100–101. ISSN 0104-4230. doi:10.1590/S0104-42302007000200008. Consultado em 31 de dezembro de 2021
semanticscholar.org
- Puri P, Shinkai T (2004). «Pathogenesis of Hirschsprung's disease and its variants: recent progress». Semin. Pediatr. Surg. 13 (1): 18–24. PMID 14765367. doi:10.1053/j.sempedsurg.2003.09.004
springer-ny.com
link.springer-ny.com
- Metallinos DL, Bowling AT, Rine J (junho de 1998). «A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease». Mamm. Genome. 9 (6): 426–31. PMID 9585428. doi:10.1007/s003359900790. Cópia arquivada em 16 de setembro de 2000
web.archive.org
- Metallinos DL, Bowling AT, Rine J (junho de 1998). «A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease». Mamm. Genome. 9 (6): 426–31. PMID 9585428. doi:10.1007/s003359900790. Cópia arquivada em 16 de setembro de 2000
whonamedit.com
- «Hirschsprung's disease». www.whonamedit.com. Consultado em 8 de outubro de 2019
worldcat.org
- Kimura, Ken; Loening-Baucke, Vera (1 de novembro de 1999). «Failure to Pass Meconium: Diagnosing Neonatal Intestinal Obstruction». American Family Physician (em inglês). 60 (7): 2043–50. ISSN 0002-838X. PMID 10569507
- Tannuri, Uenis; Tannuri, Ana Cristina Aoun (abril de 2007). «Megacolo congênito no recém-nascido: qual o melhor tratamento?». Revista da Associação Médica Brasileira: 100–101. ISSN 0104-4230. doi:10.1590/S0104-42302007000200008. Consultado em 31 de dezembro de 2021