Publications by authors named "T Alix"

Article Synopsis
  • Tatton-Brown-Rahman syndrome (TBRS) is a genetic disorder characterized by overgrowth, intellectual disability, and distinct facial features, resulting from mutations in a gene that regulates DNA methylation.* -
  • A study of 24 French patients identified 17 new genetic variants, confirming that 100% showed intellectual disability, 96% had distinctive facial traits, and 87% exhibited overgrowth, alongside novel symptoms like hypertrichosis.* -
  • The findings enhance the understanding of TBRS's clinical presentation, aiding in diagnosis and patient care by clarifying its genetic and phenotypic diversity.*
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Article Synopsis
  • Clinical exome sequencing (CES) is a cost-effective method for analyzing disease-related genes, showing a diagnostic yield of about 37.6% in a study of 603 patients with various Mendelian phenotypes.
  • Key factors that predicted the utility of CES included the presence of severe phenotypes, having at least one family member tested, and prescriptions made by genetic experts.
  • The findings from this study suggest that using CES as a first-level genetic test can enhance diagnostic efficiency in detecting monogenic disorders.
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Inherited disorders of B metabolism produce a broad spectrum of manifestations, with limited knowledge of the influence of age and the function of related genes. We report a meta-analysis on 824 patients with a genetically proven diagnosis of an inherited disorder of vitamin B metabolism. Gene clusters and age categories are associated with patients' manifestations.

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Introduction: The eyelids reconstruction presents an aesthetic, but above all, a functional challenge. It must allow the good protection of the cornea. The development of perforator flaps is major in recent years and is gradually spreading to the face, which has pushed us to apply it to palpebral surgery.

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Efficiency indicators have been frequently used to assess end-of-life chain performance, mostly. In terms of the percentage of mass sent to re-use, recycling, and/or energy recovery facilities. While legislation gives a standard definition for recycling and recovery rates, stakeholders sometimes redefine them to better fit their own scopes and objectives.

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