Sulcus vocalis: evidence for autosomal dominant inheritance
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.4238/2011.December.19.5 http://hdl.handle.net/11449/12693 |
Resumo: | We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy ( one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients. The finding of four affected individuals in three generations, with vertical transmission affecting man and women, is more consistent with autosomal dominant inheritance pattern; it is an etiological model that we propose for the sulcus vocalis in this pedigree. |
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Repositório Institucional da UNESP |
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Sulcus vocalis: evidence for autosomal dominant inheritanceAutosomal dominantSulcus vocalisHoarsenessVideolaryngoscopyGeneticsLaryngeal developmentWe found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy ( one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients. The finding of four affected individuals in three generations, with vertical transmission affecting man and women, is more consistent with autosomal dominant inheritance pattern; it is an etiological model that we propose for the sulcus vocalis in this pedigree.Univ Estadual São Paulo Julio de Mesquita Filho, Dept Genet, Inst Biociencias, Botucatu, SP, BrazilUniv Estadual São Paulo Julio de Mesquita Filho, Dept Otorrinolaringol, Fac Med Botucatu, Botucatu, SP, BrazilUniv Estadual São Paulo Julio de Mesquita Filho, Dept Genet, Inst Biociencias, Botucatu, SP, BrazilUniv Estadual São Paulo Julio de Mesquita Filho, Dept Otorrinolaringol, Fac Med Botucatu, Botucatu, SP, BrazilFunpec-editoraUniversidade Estadual Paulista (Unesp)Martins, Regina Helena Garcia [UNESP]Goncalves, T. M. [UNESP]Neves, D. S. [UNESP]Fracalossi, T. A. [UNESP]Tavares, E. L. M. [UNESP]Moretti-Ferreira, D. [UNESP]2014-05-20T13:36:53Z2014-05-20T13:36:53Z2011-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article3163-3168application/pdfhttp://dx.doi.org/10.4238/2011.December.19.5Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 10, n. 4, p. 3163-3168, 2011.1676-5680http://hdl.handle.net/11449/1269310.4238/2011.December.19.5WOS:000300617600089WOS000300617600089.pdf8683290712226765Web of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics and Molecular Research0,439info:eu-repo/semantics/openAccess2024-08-16T18:43:34Zoai:repositorio.unesp.br:11449/12693Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-16T18:43:34Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Sulcus vocalis: evidence for autosomal dominant inheritance |
title |
Sulcus vocalis: evidence for autosomal dominant inheritance |
spellingShingle |
Sulcus vocalis: evidence for autosomal dominant inheritance Martins, Regina Helena Garcia [UNESP] Autosomal dominant Sulcus vocalis Hoarseness Videolaryngoscopy Genetics Laryngeal development |
title_short |
Sulcus vocalis: evidence for autosomal dominant inheritance |
title_full |
Sulcus vocalis: evidence for autosomal dominant inheritance |
title_fullStr |
Sulcus vocalis: evidence for autosomal dominant inheritance |
title_full_unstemmed |
Sulcus vocalis: evidence for autosomal dominant inheritance |
title_sort |
Sulcus vocalis: evidence for autosomal dominant inheritance |
author |
Martins, Regina Helena Garcia [UNESP] |
author_facet |
Martins, Regina Helena Garcia [UNESP] Goncalves, T. M. [UNESP] Neves, D. S. [UNESP] Fracalossi, T. A. [UNESP] Tavares, E. L. M. [UNESP] Moretti-Ferreira, D. [UNESP] |
author_role |
author |
author2 |
Goncalves, T. M. [UNESP] Neves, D. S. [UNESP] Fracalossi, T. A. [UNESP] Tavares, E. L. M. [UNESP] Moretti-Ferreira, D. [UNESP] |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) |
dc.contributor.author.fl_str_mv |
Martins, Regina Helena Garcia [UNESP] Goncalves, T. M. [UNESP] Neves, D. S. [UNESP] Fracalossi, T. A. [UNESP] Tavares, E. L. M. [UNESP] Moretti-Ferreira, D. [UNESP] |
dc.subject.por.fl_str_mv |
Autosomal dominant Sulcus vocalis Hoarseness Videolaryngoscopy Genetics Laryngeal development |
topic |
Autosomal dominant Sulcus vocalis Hoarseness Videolaryngoscopy Genetics Laryngeal development |
description |
We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy ( one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients. The finding of four affected individuals in three generations, with vertical transmission affecting man and women, is more consistent with autosomal dominant inheritance pattern; it is an etiological model that we propose for the sulcus vocalis in this pedigree. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-01-01 2014-05-20T13:36:53Z 2014-05-20T13:36:53Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.4238/2011.December.19.5 Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 10, n. 4, p. 3163-3168, 2011. 1676-5680 http://hdl.handle.net/11449/12693 10.4238/2011.December.19.5 WOS:000300617600089 WOS000300617600089.pdf 8683290712226765 |
url |
http://dx.doi.org/10.4238/2011.December.19.5 http://hdl.handle.net/11449/12693 |
identifier_str_mv |
Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 10, n. 4, p. 3163-3168, 2011. 1676-5680 10.4238/2011.December.19.5 WOS:000300617600089 WOS000300617600089.pdf 8683290712226765 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Genetics and Molecular Research 0,439 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
3163-3168 application/pdf |
dc.publisher.none.fl_str_mv |
Funpec-editora |
publisher.none.fl_str_mv |
Funpec-editora |
dc.source.none.fl_str_mv |
Web of Science reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808128112571973632 |