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Article: Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
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TitleAnalysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
 
AuthorsVargas, FR9 3
Roessler, E9 3
Gaudenz, K9
Belloni, E15
Whitehead, AS1
Kirke, PN7
Mills, JL8
Hooper, G14
Stevenson, RE10
Cordeiro, I6
Correia, P2
Felix, T12
Gereige, R4
Cunningham, ML13
Canún, S11
Antonarakis, SE16
Strachan, T5
Tsui, LC15
Scherer, SW15
Muenke, M9 3
 
Issue Date1998
 
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
 
CitationHuman 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.
 
ISSN0340-6717
2013 Impact Factor: 4.522
 
DOIhttp://dx.doi.org/10.1007/s004390050709
 
ISI Accession Number IDWOS:000073551000002
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorVargas, FR
 
dc.contributor.authorRoessler, E
 
dc.contributor.authorGaudenz, K
 
dc.contributor.authorBelloni, E
 
dc.contributor.authorWhitehead, AS
 
dc.contributor.authorKirke, PN
 
dc.contributor.authorMills, JL
 
dc.contributor.authorHooper, G
 
dc.contributor.authorStevenson, RE
 
dc.contributor.authorCordeiro, I
 
dc.contributor.authorCorreia, P
 
dc.contributor.authorFelix, T
 
dc.contributor.authorGereige, R
 
dc.contributor.authorCunningham, ML
 
dc.contributor.authorCanún, S
 
dc.contributor.authorAntonarakis, SE
 
dc.contributor.authorStrachan, T
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorScherer, SW
 
dc.contributor.authorMuenke, M
 
dc.date.accessioned2007-09-12T03:51:42Z
 
dc.date.available2007-09-12T03:51:42Z
 
dc.date.issued1998
 
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.
 
dc.description.natureabstract
 
dc.identifier.citationHuman Genetics, 1998, v. 102 n. 4, p. 387-392 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s004390050709
 
dc.identifier.doihttp://dx.doi.org/10.1007/s004390050709
 
dc.identifier.epage392
 
dc.identifier.isiWOS:000073551000002
 
dc.identifier.issn0340-6717
2013 Impact Factor: 4.522
 
dc.identifier.issue4
 
dc.identifier.pmid9600232
 
dc.identifier.scopuseid_2-s2.0-0031899912
 
dc.identifier.spage387
 
dc.identifier.urihttp://hdl.handle.net/10722/44339
 
dc.identifier.volume102
 
dc.languageeng
 
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
 
dc.publisher.placeGermany
 
dc.relation.ispartofHuman Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.rightsThe original publication is available at www.springerlink.com
 
dc.subject.meshAbnormalities, multiple - genetics
 
dc.subject.meshPolydactyly - genetics
 
dc.subject.meshPromoter regions (genetics)
 
dc.subject.meshProteins - analysis - genetics
 
dc.subject.meshThumb - abnormalities
 
dc.titleAnalysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
 
dc.typeArticle
 
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Author Affiliations
  1. Trinity College Dublin
  2. Fundacao Oswaldo Cruz
  3. National Human Genome Research Institute
  4. All Children's Hospital St. Petersburg
  5. Newcastle University, United Kingdom
  6. Santa Maria Hospital, Lisbon
  7. Health Research Board Ireland
  8. National Institute of Child Health and Human Development
  9. University of Pennsylvania, School of Medicine
  10. Greenwood Genetics Center
  11. Hospital General Dr. Manual Gea Gonalez, Mexico City
  12. Hospital de Clinicas de Porto Alegre
  13. University of Washington Seattle
  14. Princess Margaret Rose Orthopaedic Hospital
  15. Hospital for Sick Children University of Toronto
  16. Université de Genève Faculté de Médecine