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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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 revueLibre acceso -
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 revueLibre acceso -
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 revueSolicitar copia -
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 revueLibre acceso -
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 revueLibre acceso -
ARF1-related disorder: phenotypic and molecular spectrum
(Journal of Medical Genetics. vol. 60, n° 10, pp. 999-1005, 2023-04-25)Article de revueLibre acceso -
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 revueLibre acceso -
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
(Pigment Cell & Melanoma research, 2023-08-31)Article de revueLibre acceso -
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
(Genetics in Medicine. vol. 25, n° 4, pp. 100018, 2023-04-01)Article de revueLibre acceso -
Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies.
(Cells. vol. 12, n° 2, pp. 337, 2023-01-16)Article de revueLibre acceso -
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
(Prenatal Diagnosis. vol. 43, n° 6, pp. 734-745, 2023-03-06)Article de revueLibre acceso -
Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal
(Gynécologie Obstétrique Fertilité & Sénologie. vol. 51, n° 7-8, pp. 367-371, 2023-07-08)Article de revue -
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
(Frontiers in Genetics. vol. 14, pp. 1099995, 2023-01-01)Article de revueLibre acceso -
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
(Nature Communications. vol. 14, n° 1, pp. 6067, 2023-09-28)Article de revueLibre acceso -
The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.
(Cell Reports. vol. 42, n° 6, pp. 112579, 2023-06-01)Article de revueLibre acceso -
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
(Investigative Ophthalmology & Visual Science. vol. 64, n° 12, pp. 26, 2023-09-01)Article de revueLibre acceso -
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
(Biochimica et Biophysica Acta - Molecular Basis of Disease. vol. 1870, n° 1, pp. 166856, 2023-08-26)Article de revue -
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
(Journal of Clinical Endocrinology and Metabolism. vol. 108, n° 9, pp. e779-e788, 2023-03-08)Article de revueLibre acceso -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue
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Historial de tipología de registros
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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 | 5 |
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 |