Treacher Collins Syndrome
Mostrando 1-12 de 15 artigos, teses e dissertações.
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1. A linguagem na Síndrome de Treacher Collins: uma análise dialógica
RESUMO A Síndrome de Treacher Collins ou Disostose Mandibulofacial é decorrente de mutações genéticas e caracterizada por malformações craniofaciais. Crianças com essa síndrome podem apresentar dificuldades cognitivas, linguísticas e psicomotoras. São raras as publicações que discorrem sobre a complexidade de seus aspectos terapêuticos, especi
Audiol., Commun. Res.. Publicado em: 28/02/2019
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2. Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome
INTRODUCTION: Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC), and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (HA) is not possible in cases in which agenesis or stenosis of the EAC accompanies conductive deafness. In contrast, bone condu
Int. Arch. Otorhinolaryngol.. Publicado em: 2013-06
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3. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
Background: Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD). Haploinsufficiency of the gene product (treacle) during embryoni
Publicado em: 2010
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4. Functional study of mesenchymal cells with pathogenic mutations in TCOF1 / Estudo funcional de células mesenquimais com mutações patogênicas no TCOF1
Neste trabalho tentamos traçar quais seriam os efeitos funcionais e de expressão gênica de mutações patogênicas no gene TCOF1 em células não embrionárias. A partir do estabelecimento de culturas celulares oriundas de periósteo facial de quatro pacientes portadores da síndrome de Treacher Collins (STC), obtivemos populações celulares com mais de
Publicado em: 2009
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5. Mapping and regulatory mechanisms study of genes associated with caraniofacial malformations / "Estudo de mecanismos regulatórios e mapeamento de genes associados a malformações craniofaciais"
In the present study, we investigate two craniofacial mendelian disorders, resulting from abnormalities in the development of the first and second pharyngeal arches: the Treacher Collins Syndrome (TCS ) and the auriculo condylar syndrome (ACS). The identification of genes and molecular mechanisms associated to these conditions, in addition to contributing to
Publicado em: 2007
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6. "Condições bucais de pacientes com craniossinostoses múltiplas sindrômicas e síndrome de Treacher Collins." / "Oral health status of patients with syndromic craniosynostosis and Treacher Collins syndrome."
Two groups of patients were evaluated in an attempt to achieve more information on the oral health status, association with cleft lip and palate, soft tissue alterations and prevalence of dental anomalies in patients with craniofacial syndromes. One group comprised 19 patients with craniosynostosis syndromes (Apert, Crouzon, Pfeiffer and Saethre-Chotzen synd
Publicado em: 2004
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7. Molecular analysis of the TCOF1 gene in Treacher Collins syndrome patients / Estudo molecular do gene TCOF1 em pacientes portadores da síndrome de Treacher Collins
A síndrome de Treacher Collins (STC) é um distúrbio do desenvolvimento craniofacial de herança autossômica dominante causada por mutações no gene TCOF1, localizado no cromossomo 5 (5q32). Utilizando as técnicas de SSCP e seqüenciamento, estabelecemos um método eficiente para a detecção de mutações no gene TCOF1, o que permitiu oferecer o teste
Publicado em: 2002
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8. Treacher Collins syndrome.
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9. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.
Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected child. The results of this analysis predicte
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10. Postaxial acrofacial dysostosis (Miller) syndrome: a new case.
We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.
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11. Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.
The ocular findings and visual prognosis were reviewed in 24 patients with the Treacher-Collins syndrome who were evaluated in the craniofacial clinic in the Division of Pediatric Ophthalmology at Children's Hospital of Philadelphia between 1980 and 1991. All patients had some abnormality. Vision loss was present in 37% of patients. Amblyopia was present in
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12. Medical genetics: advances in brief: The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.