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http://acervodigital.unesp.br/handle/11449/32262
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DC Field | Value | Language |
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dc.contributor.author | Mendoza, Gustavo | - |
dc.contributor.author | Pemberton, Trevor J. | - |
dc.contributor.author | Lee, Kwanghyuk | - |
dc.contributor.author | Scarel-Caminaga, Raquel | - |
dc.contributor.author | Mehrian-Shai, Ruty | - |
dc.contributor.author | Gonzalez-Quevedo, Catalina | - |
dc.contributor.author | Ninis, Vasiliki | - |
dc.contributor.author | Hartiala, Jaana | - |
dc.contributor.author | Allayee, Hooman | - |
dc.contributor.author | Snead, Malcolm L. | - |
dc.contributor.author | Leal, Suzanne M. | - |
dc.contributor.author | Line, Sergio R. P. | - |
dc.contributor.author | Patel, Pragna I. | - |
dc.date.accessioned | 2014-05-20T15:21:05Z | - |
dc.date.accessioned | 2016-10-25T17:54:22Z | - |
dc.date.available | 2014-05-20T15:21:05Z | - |
dc.date.available | 2016-10-25T17:54:22Z | - |
dc.date.issued | 2007-01-01 | - |
dc.identifier | http://dx.doi.org/10.1007/s00439-006-0246-6 | - |
dc.identifier.citation | Human Genetics. New York: Springer, v. 120, n. 5, p. 653-662, 2007. | - |
dc.identifier.issn | 0340-6717 | - |
dc.identifier.uri | http://hdl.handle.net/11449/32262 | - |
dc.identifier.uri | http://acervodigital.unesp.br/handle/11449/32262 | - |
dc.description.abstract | Amelogenesis 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.extent | 653-662 | - |
dc.language.iso | eng | - |
dc.publisher | Springer | - |
dc.source | Web of Science | - |
dc.title | A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3 | en |
dc.type | outro | - |
dc.contributor.institution | Univ So Calif | - |
dc.contributor.institution | Baylor Coll Med | - |
dc.contributor.institution | Universidade Estadual Paulista (UNESP) | - |
dc.contributor.institution | Universidade Estadual de Campinas (UNICAMP) | - |
dc.description.affiliation | Univ So Calif, Inst Med Genet, Los Angeles, CA 90033 USA | - |
dc.description.affiliation | Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA | - |
dc.description.affiliation | Baylor Coll Med, Sch Dent, UNESP, Houston, TX 77030 USA | - |
dc.description.affiliation | Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA | - |
dc.description.affiliation | Univ So Calif, Ctr Craniofacial Mol Biol, Los Angeles, CA 90033 USA | - |
dc.description.affiliation | Univ Estadual Campinas, Fac Odontol Piracicaba, Campinas, SP, Brazil | - |
dc.description.affiliationUnesp | Baylor Coll Med, Sch Dent, UNESP, Houston, TX 77030 USA | - |
dc.identifier.doi | 10.1007/s00439-006-0246-6 | - |
dc.identifier.wos | WOS:000243000800006 | - |
dc.rights.accessRights | Acesso restrito | - |
dc.relation.ispartof | Human Genetics | - |
Appears in Collections: | Artigos, TCCs, Teses e Dissertações da Unesp |
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