Fshd
Mostrando 1-12 de 18 artigos, teses e dissertações.
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1. Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy
RESUMO Antecedentes: Embora haja predomínio de fraqueza muscular facial na distrofia facioescapuloumeral (FSHD), é escassa a literatura sobre aspectos de fala e deglutição. Objetivo: Investigar os padrões de fala e deglutição na FSHD e correlacioná-los com dados clínicos da doença. Métodos: Estudo transversal. Pacientes com confirmação cl�
Arquivos de Neuro-Psiquiatria. Publicado em: 2022
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2. UTILIZAÇÃO DO HORMÔNIO FOLÍCULO ESTIMULANTE (FSH) HOMEOPÁTICO NO CULTIVO IN VITRO DE FOLÍCULOS PRÉ- ANTRAIS OVINOS INCLUSOS EM FRAGMENTOS DE TECIDO OVARIANO / USE OF FOLLICLE STIMULATING HORMONE (FSH) HOMEOPATHIC IN VITRO CULTIVATION OF PRE-FOLLICLES Antral INCLUDED IN SHEEP TISSUE FRAGMENTS ovarian
Diversas biotecnologias estão sendo utilizadas nos ovinos com objetivo de melhorar a produção de embriões, dentre as quais podemos destacar a biotécnica de Manipulação de Oócitos Inclusos em Folículos Ovarianos Pré-Antrais. Entretanto, a literatura mostra que a MOIFOPA tem uma baixa eficiência para obtenção de embriões, além de um alto custo,
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 08/12/2011
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3. Estudo do perfil de expressão gênica na distrofia muscular fácio-escápulo-umeral (FSH) / Study of gene expression profile in facioscapulohumeral muscular dystrophy (FSHD)
FSHD is characterized by a great clinical inter and intrafamilial variability. Approximately 10-20% of patients eventually becoming wheelchair-bound while 20-30% with a shortened D4Z4 array, remains asymptomatic or minimally affected. Interestingly, these cases seem to be concentrated in some particular families, suggesting that some mechanism might be actin
Publicado em: 2009
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4. Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B
Facioscapulohumeral muscular dystrophy (FHSD) is a genetically heterogeneous, autosomal dominant primary disease of muscle. The predominant form of FSHD, which has been designated FSHD1A, has been localised to the 4q34 region of human chromosome 4. The disease locus (loci) for the remaining FSHD families, which are not linked to chromosome 4 and have been de
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5. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.
A major advance in the molecular diagnosis of facioscapulohumeral muscular dystrophy is the recently reported elimination of confounding DNA fragments arising from homologous sequences located at 10q26. In order to evaluate the specificity and sensitivity of this important diagnostic test, we have compared a group of 130 patients fulfilling the diagnostic cr
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6. An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease.
By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentage of the excluded areas on each chromosome are presented here. This exclusion map shows that more than 8
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7. De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition with variable age of onset and severity. Identification of a de novo DNA fragment by probe p13E-11 (D4F104S1) established the diagnosis of new mutation FSHD in 27 of 31 sporadic cases. The clinical data for these certain new mutation cases were as follows: 13 boys, 14 girls; mea
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8. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.
Facioscapulohumeral muscular dystrophy (FSHD) is one of the common inherited neuromuscular disorders. The major gene involved, FSHD1, has been localised to chromosome 4q35. This 4q35 locus, detected by pE13-11 (D4F104S1), shows a mutation frequency of about 10% of the incidence. New mutants are characterised by de novo deletions of tens to hundreds of kiloba
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9. Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by an insidious onset and progressive course. The disease has a frequency of about 1 in 20,000 and is transmitted in an autosomal dominant fashion with almost complete penetrance. Deletion of an integral number of tandemly arrayed 3.3-kb repeat units (D4Z4) on chromosome
The National Academy of Sciences.
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10. Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias.
In any family study using information gathered retrospectively, the influence of the method of ascertainment on the observed segregation ratio in sibships needs careful consideration. The study of kindred members from outside the area of primary ascertainment is invaluable in providing segregation data with minimal ascertainment bias. For facioscapulohumeral
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11. Linkage analysis of French families with facioscapulohumeral muscular dystrophy.
Linkage analysis was undertaken in seven French families with facioscapulohumeral muscular dystrophy (FSHD). Six polymorphic DNA probes were studied, including random DNA sequences, coding sequences, and a hypervariable marker. No evidence for linkage of these probes to the disease was detected, and the results exclude probable location of the FSHD gene from
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12. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder transmitted in an autosomal dominant fashion. FSHD has been located by linkage analysis in the most distal part of chromosome 4q. The disease is associated with deletions within a 3.2 kb tandem repeat sequence, D4Z4. We have studied a family in which an abnormal chromosome 4