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Article: Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

TitleAnalysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
Authors
Vargas, FRRoessler, EGaudenz, KBelloni, EWhitehead, ASKirke, PNMills, JLHooper, GStevenson, RECordeiro, ICorreia, PFelix, TGereige, RCunningham, MLCanún, SAntonarakis, SEStrachan, TTsui, LCScherer, SWMuenke, M
Issue Date1998
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 1998, v. 102 n. 4, p. 387-392 How to Cite?
DOI: http://dx.doi.org/10.1007/s004390050709
AbstractThe human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories.
Persistent Identifierhttp://hdl.handle.net/10722/44339
ISSN
0340-6717
2023 Impact Factor: 3.8
2023 SCImago Journal Rankings: 2.049
ISI Accession Number ID
WOS:000073551000002
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorVargas, FRen_HK
dc.contributor.authorRoessler, Een_HK
dc.contributor.authorGaudenz, Ken_HK
dc.contributor.authorBelloni, Een_HK
dc.contributor.authorWhitehead, ASen_HK
dc.contributor.authorKirke, PNen_HK
dc.contributor.authorMills, JLen_HK
dc.contributor.authorHooper, Gen_HK
dc.contributor.authorStevenson, REen_HK
dc.contributor.authorCordeiro, Ien_HK
dc.contributor.authorCorreia, Pen_HK
dc.contributor.authorFelix, Ten_HK
dc.contributor.authorGereige, Ren_HK
dc.contributor.authorCunningham, MLen_HK
dc.contributor.authorCanún, Sen_HK
dc.contributor.authorAntonarakis, SEen_HK
dc.contributor.authorStrachan, Ten_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorMuenke, Men_HK
dc.date.accessioned2007-09-12T03:51:42Z-
dc.date.available2007-09-12T03:51:42Z-
dc.date.issued1998en_HK
dc.identifier.citationHuman Genetics, 1998, v. 102 n. 4, p. 387-392en_HK
dc.identifier.issn0340-6717en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44339-
dc.description.abstractThe human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories.en_HK
dc.languageengen_HK
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_HK
dc.relation.ispartofHuman Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subject.meshAbnormalities, multiple - geneticsen_HK
dc.subject.meshPolydactyly - geneticsen_HK
dc.subject.meshPromoter regions (genetics)en_HK
dc.subject.meshProteins - analysis - geneticsen_HK
dc.subject.meshThumb - abnormalitiesen_HK
dc.titleAnalysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1007/s004390050709en_HK
dc.identifier.pmid9600232-
dc.identifier.scopuseid_2-s2.0-0031899912en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031899912&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume102en_HK
dc.identifier.issue4en_HK
dc.identifier.spage387en_HK
dc.identifier.epage392en_HK
dc.identifier.isiWOS:000073551000002-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridVargas, FR=7201401036en_HK
dc.identifier.scopusauthoridRoessler, E=7005526597en_HK
dc.identifier.scopusauthoridGaudenz, K=6602481296en_HK
dc.identifier.scopusauthoridBelloni, E=7003332359en_HK
dc.identifier.scopusauthoridWhitehead, AS=7102651051en_HK
dc.identifier.scopusauthoridKirke, PN=55404035900en_HK
dc.identifier.scopusauthoridMills, JL=7402861809en_HK
dc.identifier.scopusauthoridHooper, G=20534444300en_HK
dc.identifier.scopusauthoridStevenson, RE=7402603132en_HK
dc.identifier.scopusauthoridCordeiro, I=6701568088en_HK
dc.identifier.scopusauthoridCorreia, P=7006210681en_HK
dc.identifier.scopusauthoridFelix, T=6603684794en_HK
dc.identifier.scopusauthoridGereige, R=6602372989en_HK
dc.identifier.scopusauthoridCunningham, ML=7402829590en_HK
dc.identifier.scopusauthoridCanún, S=6602836494en_HK
dc.identifier.scopusauthoridAntonarakis, SE=36049009800en_HK
dc.identifier.scopusauthoridStrachan, T=7005766027en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridMuenke, M=7005689389en_HK
dc.identifier.issnl0340-6717-

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