Navigation Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 par Date
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Dopachrome tautomerase variants in patients with oculocutaneous albinism
(Genetics in Medicine. vol. 23, n° 3, pp. 479-487, 2021)Article de revue -
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies
(Platelets. vol. 32, n° 3, pp. 420-423, 2021)Article de revue -
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56
(Journal of Internal Medicine. vol. 289, n° 5, pp. 709-725, 2021)Article de revue -
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome
(Pigment Cell & Melanoma research. vol. 34, n° 1, pp. 132-135, 2021-01)Article de revue -
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas
(Journal of Clinical Investigation. vol. 131, n° 1, 2021-01-04)Article de revue -
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
(Clinical Genetics. vol. 99, n° 5, pp. 650-661, 2021-01-07)Article de revue -
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations
(neurogenetics. vol. 22, n° 1, pp. 71-79, 2021-01-23)Article de revueLibre accès -
A hexokinase isoenzyme switch in human liver cancer cells promotes lipogenesis and enhances innate immunity
(Communications Biology. vol. 4, n° 1, 2021-02-16)Article de revueLibre accès -
Exposome du cancer : reprogrammation métabolique du cancer du poumon par les nitrosamines spécifiques de la fumée de tabac
(Bordeaux, 2021-03-19)Thèses de doctorat -
SOD1-related ALS with anticipation in a large family from Martinique
(Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021-03-23)Article de revue -
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
(European Journal of Medical Genetics. vol. 64, n° 4, 2021-04)Article de revue -
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
(Platelets. vol. 32, n° 3, pp. 420-423, 2021-04-03)Article de revue -
Recherche et caractérisation de nouveaux gènes impliqués dans l’albinisme
(Bordeaux, 2021-04-06)Thèses de doctorat -
Succinate anaplerosis has an onco-driving potential in prostate cancer cells
(Cancers. vol. 13, n° 7, 2021-04-06)Article de revueLibre accès -
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency
(Journal of Inherited Metabolic Disease. vol. 44, n° 3, pp. 777-786, 2021-05)Article de revue -
Evidence of mosaicism in SPAST variant carriers in four French families
(European Journal of Human Genetics. vol. 29, n° 7, pp. 1158-1163, 2021-05-06)Article de revue -
Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients
(Journal of Inherited Metabolic Disease, 2021-05-20)Article de revue -
Management of albinism: French guidelines for diagnosis and care
(Journal of the European Academy of Dermatology and Venereology. vol. 35, n° 7, pp. 1449-1459, 2021-05-27)Article de revue -
Pain evaluation after day-surgery using a mobile phone application
(Anaesthesia Critical Care & Pain Medicine. vol. 40, n° 3, 2021-06)Article de revue -
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
(European Journal of Human Genetics, 2021-06-01)Article de revueLibre accès