Publications by authors named "V Paquis-Fluckinger"
Article Synopsis
- Advances in omics technologies are enhancing the diagnosis of rare diseases by developing methods to identify responsible genes, particularly using transcriptomic data for detecting aberrant gene expression (AGE).
- ABEILLE is a new method that uses variational autoencoders and decision trees to identify AGEs in RNA-seq data without needing replicates or control groups, focusing on flexibility and severity of aberrations.
- The source code for ABEILLE is available for free on GitHub, alongside supplementary data for further insights.
Rare diseases (RDs) concern a broad range of disorders and can result from various origins. For a long time, the scientific community was unaware of RDs. Impressive progress has already been made for certain RDs; however, due to the lack of sufficient knowledge, many patients are not diagnosed.
View Article and Find Full Text PDFThe number of identified monogenic diabetes progressively increases with time even if these forms of diabetes represent less than 5% of the cases. Every monogenic diabetes is characterized by an impairment of Beta cell at various levels. They are good models of diabetes-prone mechanisms.
View Article and Find Full Text PDFObjective: To evaluate the prevalence and clinical consequences of gastro-intestinal manifestations in Maternally Inherited Diabetes and Deafness syndrome (MIDD).
Methods: We report the case of fatal intestinal pseudo-obstruction in a patient with severe MIDD. Using a standardized questionnaire, we evaluate the frequency of gastrointestinal tract (GIT) symptoms in 10 patients with MIDD (8 A3243G and 2 T14709C mutations of mitochondrial DNA).
Objective: To evaluate the prevalence of macular pattern dystrophy (MPD) in maternally inherited diabetes and deafness (MIDD), a new subtype of diabetes mellitus that cosegregates with a mutation of mitochondrial DNA (i.e., the substitution of guanine for adenine at position 3243 of leucine transfer RNA) and to report the clinical characteristics of MPD.
View Article and Find Full Text PDF