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Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/32262
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dc.contributor.authorMendoza, Gustavo-
dc.contributor.authorPemberton, Trevor J.-
dc.contributor.authorLee, Kwanghyuk-
dc.contributor.authorScarel-Caminaga, Raquel-
dc.contributor.authorMehrian-Shai, Ruty-
dc.contributor.authorGonzalez-Quevedo, Catalina-
dc.contributor.authorNinis, Vasiliki-
dc.contributor.authorHartiala, Jaana-
dc.contributor.authorAllayee, Hooman-
dc.contributor.authorSnead, Malcolm L.-
dc.contributor.authorLeal, Suzanne M.-
dc.contributor.authorLine, Sergio R. P.-
dc.contributor.authorPatel, Pragna I.-
dc.date.accessioned2014-05-20T15:21:05Z-
dc.date.accessioned2016-10-25T17:54:22Z-
dc.date.available2014-05-20T15:21:05Z-
dc.date.available2016-10-25T17:54:22Z-
dc.date.issued2007-01-01-
dc.identifierhttp://dx.doi.org/10.1007/s00439-006-0246-6-
dc.identifier.citationHuman Genetics. New York: Springer, v. 120, n. 5, p. 653-662, 2007.-
dc.identifier.issn0340-6717-
dc.identifier.urihttp://hdl.handle.net/11449/32262-
dc.identifier.urihttp://acervodigital.unesp.br/handle/11449/32262-
dc.description.abstractAmelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI. We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.3. A maximum multipoint LOD score of 7.5 was obtained at marker D8S2334 (146,101,309 bp). The disease locus lies in a 1.9 cM (2.1 Mb) region according to the Rutgers Combined Linkage-Physical map, between a VNTR marker (at 143,988,705 bp) and the telomere (146,274,826 bp). Ten candidate genes were identified based on gene ontology and microarray-facilitated gene selection using the expression of murine orthologues in dental tissue, and examined for the presence of a mutation. However, no causative mutation was identified.en
dc.format.extent653-662-
dc.language.isoeng-
dc.publisherSpringer-
dc.sourceWeb of Science-
dc.titleA new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3en
dc.typeoutro-
dc.contributor.institutionUniv So Calif-
dc.contributor.institutionBaylor Coll Med-
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)-
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)-
dc.description.affiliationUniv So Calif, Inst Med Genet, Los Angeles, CA 90033 USA-
dc.description.affiliationBaylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA-
dc.description.affiliationBaylor Coll Med, Sch Dent, UNESP, Houston, TX 77030 USA-
dc.description.affiliationBaylor Coll Med, Dept Neurol, Houston, TX 77030 USA-
dc.description.affiliationUniv So Calif, Ctr Craniofacial Mol Biol, Los Angeles, CA 90033 USA-
dc.description.affiliationUniv Estadual Campinas, Fac Odontol Piracicaba, Campinas, SP, Brazil-
dc.description.affiliationUnespBaylor Coll Med, Sch Dent, UNESP, Houston, TX 77030 USA-
dc.identifier.doi10.1007/s00439-006-0246-6-
dc.identifier.wosWOS:000243000800006-
dc.rights.accessRightsAcesso restrito-
dc.relation.ispartofHuman Genetics-
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

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