Vocal Mutation
Mostrando 1-6 de 6 artigos, teses e dissertações.
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1. Art and science: impact of semioccluded vocal tract exercises and choral singing on quality of life in subjects with congenital GH deficiency
ABSTRACT Objectives: Currently, not much is known about the interactions between voice and growth hormone (GH). We have described large kindred with isolated GH deficiency (IGHD) due to a GHRH receptor mutation, resulting in severe short stature and high-pitched voice. These IGHD individuals have little interest in GH treatment, as they consider themselves
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Aspectos clinicos da deglutição, da fonoarticulação e suas correlações geneticas na Doença de Machado Joseph / Clinical aspects of swallowing, voice/speech and genetic correlation in Machado Joseph disease
Introduction: Machado-Joseph (MJO) is a degenerative, autosomal dominant inherited disease, common to populations of Portuguese descent. It is a form of triplet repeat genetic disorder. The original mutation is caused by an abnormal repetition of the CAG code on chromosome 14q. The estimated prevalence in Brazil is 1: 1 00,000. The polymorphic symptoms appea
Publicado em: 2008
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3. Biological and vocal characteristics during vocal male development in vocal premutation, mutation and postmutation / Características biológicas e vocais durante o desenvolvimento vocal masculino nos períodos pré, peri e pós muda vocal
As grandes mudanças ocorridas na voz masculina durante a puberdade fazem com que o estudo do desenvolvimento vocal masculino normal seja bastante interessante, entretanto pouco estudado. Assim, este trabalho teve como objetivo verificar as características biológicas e vocais durante desenvolvimento vocal masculino nos períodos pré, peri e pós muda voca
Publicado em: 2007
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4. Laryngeal and vocal evaluation in isolated growth hormone deficiency (IGHD) individuals. / AVALIAÇÃO LARÍNGEA E VOCAL EM INDIVÍDUOS COM DEFICIÊNCIA ISOLADA DO HORMÔNIO DE CRESCIMENTO (DIGH)
The voice on congenital isolated growth hormone deficiency (IGHD) is commonly refered high pitched voice. However, vocal and laryngeal data are rare within literature. In Itabaianinha County, Northeast Brazil, it had been described the most extend kindred with severe IGHD due to a GH-realising hormone receptor (GHRHR) gene mutation. The aim of this descripti
Publicado em: 2007
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5. Phonoaudiological aspects of Saethre-Chotzen syndrome / Aspectos fonoaudiologicos da sindrome de Saethre-Chotzen
Saethre-Chotzen Syndrome (SCS) is characterized by craniosynostosis and several important facial alterations such as: low hair implantation at the front, asymmetry, maxillary hypoplasia, mandibular prognathism, in addition to small, dysmorphic and low-set ears. Among the ocular alterations are: blepharoptosis, strabismus, epicanthus, lachrymal duct stenosis
Publicado em: 2006
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6. Localization of the Gene for Distal Hereditary Motor Neuronopathy VII (dHMN-VII) to Chromosome 2q14
Distal hereditary motor neuronopathy type VII (dHMN-VII) is an autosomal dominant disorder characterized by distal muscular atrophy and vocal cord paralysis. We performed a genomewide linkage search in a large Welsh pedigree with dHMN-VII and established linkage to chromosome 2q14. Analyses of a second family with dHMN-VII confirmed the location of the gene
The American Society of Human Genetics.