Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211
Le projet de recherche de l'unité s'inscrit dans une approche translationnelle et intégrative dite « du lit du malade au laboratoire », visant à décrire la physiopathologie de certaines maladies rares (MR) et « du laboratoire vers le patient », afin de faire bénéficier les patients des avancées de la recherche. Cette approche transrationnelle suit deux axes de recherche. Le 1er axe concerne les maladies génétiques rares du développement avec le syndrome de Goldenhar ou spectre oculo-auriculo-vertébral (OAVS) dont le déterminisme génétique est inconnu, et le syndrome de Rubinstein-Taybi lie à deux gènes connus, CREBBP et EP300. Le second axe de recherche repose sur l'étude du métabolisme énergétique et lipidique dans les dégénérescences spinocérébelleuses et les Rasopathies (syndrome de Costello et neurofibromatose de type I).
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Recent Submissions
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NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
(Circulation: Genomic and Precision Medicine. vol. 17, n° 1, pp. e004285, 2024-02-01)Article de revue -
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
(Nature Communications. vol. 15, n° 1, pp. 8436, 2024-09-30)Article de revueOpen access -
Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
(Documenta Ophthalmologica. vol. 149, n° 1, pp. 47-52, 2024-08-01)Article de revue -
Functional Characterization of Splice Variants in the Diagnosis of Albinism.
(International Journal of Molecular Sciences. vol. 25, n° 16, 2024-08-08)Article de revueOpen access -
Functional single-cell analyses of mesenchymal stromal cell proliferation and differentiation using ALDH-activity and mitochondrial ROS content.
(Cytotherapy. vol. 26, n° 8, pp. 813-824, 2024-08-01)Article de revue -
Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: The inflammasome hypothesis
(AIDS. vol. 37, n° 7, pp. 1035-1046, 2023)Article de revue -
Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease.
(Journal of Inherited Metabolic Disease. vol. 47, n° 4, pp. 818-833, 2024-07-01)Article de revue -
Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene
(American Journal of Medical Genetics Part C Seminar in Medical Genetics. pp. e32087, 2024-04-09)Article de revueRequest a copy -
Genotypic spectrum of albinism in Mali
Article de revueOpen access -
New approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project.
(Frontiers in Toxicology. vol. 6, pp. 1359507, 2024-04-26)Article de revueOpen access -
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
(Journal of Medical Genetics. pp. 109854, 2024-06-07)Article de revueRequest a copy -
Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.
(Archives de Pédiatrie. vol. 31, n° 5, pp. 320-325, 2024-07-01)Article de revue -
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
(Journal of the European Academy of Dermatology and Venereology, 2024-04-10)Article de revueOpen access -
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
(Journal of Medical Genetics. vol. 61, n° 6, pp. 503-519, 2024-05-21)Article de revueOpen access -
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
(American Journal of Medical Genetics Part A. vol. 194, n° 4, pp. 63477, 2024-04-01)Article de revueRequest a copy -
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
(Human Genetics and Genomics Advances. vol. 5, n° 3, pp. 100287, 2024-03-29)Article de revueOpen access -
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.
(BMC Medicine. vol. 22, n° 1, pp. 40, 2024-01-29)Article de revueOpen access -
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
(Journal of Medical Genetics. vol. 60, n° 12, pp. 1245-1249, 2023-11-27)Article de revueOpen access -
ARF1-related disorder: phenotypic and molecular spectrum
(Journal of Medical Genetics. vol. 60, n° 10, pp. 999-1005, 2023-04-25)Article de revueOpen access -
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
(Movement Disorders. vol. 38, n° 11, pp. 2103-2115, 2023-11-01)Article de revueOpen access
Statistics
Collection General Statistics
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2020 | 2021 | 2022 | 2023 | 2024 | |
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Actes de congrès/Proceedings | 0 | 0 | 0 | 0 | 0 |
Article de blog scientifique | 0 | 0 | 0 | 0 | 0 |
Article de revue | 5 | 35 | 31 | 29 | 16 |
Autre document | 0 | 0 | 0 | 1 | 0 |
Brevet | 0 | 0 | 0 | 0 | 0 |
Chapitre d'ouvrage | 0 | 0 | 0 | 0 | 0 |
Communication dans un congrès | 0 | 0 | 0 | 0 | 0 |
Document de travail - Pré-publication | 0 | 0 | 0 | 0 | 0 |
HDR | 0 | 0 | 0 | 0 | 0 |
Notice d'encyclopédie ou de dictionnaire | 0 | 0 | 0 | 0 | 0 |
N°spécial de revue/special issue | 0 | 0 | 0 | 0 | 0 |
Ouvrage | 0 | 0 | 0 | 0 | 0 |
Poster | 0 | 0 | 0 | 0 | 0 |
Rapport | 0 | 0 | 0 | 0 | 0 |
Thèse d'exercice | 0 | 0 | 0 | 0 | 0 |
Thèses de doctorat | 3 | 2 | 2 | 0 | 0 |
Traduction | 0 | 0 | 0 | 0 | 0 |