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Article: Hirschsprung disease, associated syndromes and genetics: A review

TitleHirschsprung disease, associated syndromes and genetics: A review
Authors
Issue Date2008
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 2008, v. 45 n. 1, p. 1-14 How to Cite?
AbstractHirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and morbidity which allowed the emergence of familial cases. Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment. While all Mendelian modes of inheritance have been described in syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. The tyrosine kinase receptor RET is the major gene with both rare coding sequence mutations and/or a frequent variant located in an enhancer element predisposing to the disease. Hitherto, 10 genes and five loci have been found to be involved in HSCR development.
Persistent Identifierhttp://hdl.handle.net/10722/57410
ISSN
2015 Impact Factor: 5.65
2015 SCImago Journal Rankings: 3.820
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorAmiel, Jen_HK
dc.contributor.authorSproatEmison, Een_HK
dc.contributor.authorGarciaBarcelo, Men_HK
dc.contributor.authorLantieri, Fen_HK
dc.contributor.authorBurzynski, Gen_HK
dc.contributor.authorBorrego, Sen_HK
dc.contributor.authorPelet, Aen_HK
dc.contributor.authorArnold, Sen_HK
dc.contributor.authorMiao, Xen_HK
dc.contributor.authorGriseri, Pen_HK
dc.contributor.authorBrooks, ASen_HK
dc.contributor.authorAntinolo, Gen_HK
dc.contributor.authorDe Pontual, Len_HK
dc.contributor.authorClementZiza, Men_HK
dc.contributor.authorMunnich, Aen_HK
dc.contributor.authorKashuk, Cen_HK
dc.contributor.authorWest, Ken_HK
dc.contributor.authorWong, KKYen_HK
dc.contributor.authorLyonnet, Sen_HK
dc.contributor.authorChakravarti, Aen_HK
dc.contributor.authorTam, PKHen_HK
dc.contributor.authorCeccherini, Ien_HK
dc.contributor.authorHofstra, RMWen_HK
dc.contributor.authorFernandez, Ren_HK
dc.date.accessioned2010-04-12T01:35:50Z-
dc.date.available2010-04-12T01:35:50Z-
dc.date.issued2008en_HK
dc.identifier.citationJournal Of Medical Genetics, 2008, v. 45 n. 1, p. 1-14en_HK
dc.identifier.issn0022-2593en_HK
dc.identifier.urihttp://hdl.handle.net/10722/57410-
dc.description.abstractHirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has importantly decreased mortality and morbidity which allowed the emergence of familial cases. Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment. While all Mendelian modes of inheritance have been described in syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. The tyrosine kinase receptor RET is the major gene with both rare coding sequence mutations and/or a frequent variant located in an enhancer element predisposing to the disease. Hitherto, 10 genes and five loci have been found to be involved in HSCR development.en_HK
dc.languageengen_HK
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_HK
dc.relation.ispartofJournal of Medical Geneticsen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsJournal of Medical Genetics. Copyright © B M J Publishing Group.en_HK
dc.subject.meshHirschsprung Disease - epidemiology - genetics - pathologyen_HK
dc.subject.meshChromosome Aberrationsen_HK
dc.subject.meshIntestinal Obstruction - geneticsen_HK
dc.subject.meshMolecular Biologyen_HK
dc.subject.meshReceptor Protein-Tyrosine Kinases - geneticsen_HK
dc.titleHirschsprung disease, associated syndromes and genetics: A reviewen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-2593&volume=45&issue=1&spage=1&epage=14&date=2008&atitle=Hirschsprung+disease,+associated+syndromes+and+genetics:+a+reviewen_HK
dc.identifier.emailGarciaBarcelo, M: mmgarcia@hkucc.hku.hken_HK
dc.identifier.emailWong, KKY: kkywong@hkucc.hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_HK
dc.identifier.authorityGarciaBarcelo, M=rp00445en_HK
dc.identifier.authorityWong, KKY=rp01392en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1136/jmg.2007.053959en_HK
dc.identifier.pmid17965226-
dc.identifier.scopuseid_2-s2.0-38349112858en_HK
dc.identifier.hkuros140957-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-38349112858&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume45en_HK
dc.identifier.issue1en_HK
dc.identifier.spage1en_HK
dc.identifier.epage14en_HK
dc.identifier.isiWOS:000252129400001-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridAmiel, J=7102312975en_HK
dc.identifier.scopusauthoridSproatEmison, E=23470720000en_HK
dc.identifier.scopusauthoridGarciaBarcelo, M=6701767303en_HK
dc.identifier.scopusauthoridLantieri, F=6506772531en_HK
dc.identifier.scopusauthoridBurzynski, G=8582419900en_HK
dc.identifier.scopusauthoridBorrego, S=7004133244en_HK
dc.identifier.scopusauthoridPelet, A=7004252827en_HK
dc.identifier.scopusauthoridArnold, S=23468560000en_HK
dc.identifier.scopusauthoridMiao, X=7102585391en_HK
dc.identifier.scopusauthoridGriseri, P=6602563929en_HK
dc.identifier.scopusauthoridBrooks, AS=7202570699en_HK
dc.identifier.scopusauthoridAntinolo, G=7003760578en_HK
dc.identifier.scopusauthoridDe Pontual, L=6602706116en_HK
dc.identifier.scopusauthoridClementZiza, M=8791658700en_HK
dc.identifier.scopusauthoridMunnich, A=7201950839en_HK
dc.identifier.scopusauthoridKashuk, C=7801364395en_HK
dc.identifier.scopusauthoridWest, K=14020757700en_HK
dc.identifier.scopusauthoridWong, KKY=24438686400en_HK
dc.identifier.scopusauthoridLyonnet, S=35432935300en_HK
dc.identifier.scopusauthoridChakravarti, A=35355137200en_HK
dc.identifier.scopusauthoridTam, PKH=7202539421en_HK
dc.identifier.scopusauthoridCeccherini, I=7004367074en_HK
dc.identifier.scopusauthoridHofstra, RMW=7006771436en_HK
dc.identifier.scopusauthoridFernandez, R=35324125700en_HK

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