3 results match your criteria: "Chubert Hospital[Affiliation]"
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ Genom Med
July 2019
2Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Article Synopsis
- The text refers to a correction made to a previously published article with the DOI 10.1038/s41525-017-0035-2.
- The correction likely addresses errors or omissions in the original publication.
- This ensures that readers have access to accurate and updated information related to the research discussed in the article.
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ Genom Med
October 2017
Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France.
Article Synopsis
- Phelan-McDermid syndrome (PMS) is a genetic condition linked to deletions on chromosome 22q13, leading to symptoms like intellectual disability, speech delays, and autism spectrum disorders, with severity varying across individuals.
- The study involved analyzing 85 patients and found that 28% had abnormalities in the corpus callosum, a brain structure important for communication between hemispheres, and identified genomic regions that may contribute to specific symptoms like lack of speech.
- Additionally, researchers found significant genetic variations that might influence the severity of PMS and noted that some family members with the deletion could remain unaffected, indicating potential compensatory mechanisms for managing the disorder.
The influence of carbohydrate structures present in common allergen sources on specific IgE results.
Eur Ann Allergy Clin Immunol
September 2007
Clinical Biochemistry Laboratory, Chubert Hospital, 56000 Vannes, France.
Background: Cross-reactive carbohydrate determinants (CCD) are well known interferants in specific IgE assays (sIgE). Glyco-epitopes are not restricted to CCD and extracts used to prepare in vitro tests contain many other glycoproteins able to bind glycan-specific IgE. The overall amounts of IgE-bindable glycan structures in allergen sources are unknown.
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