Recherche
-
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
(American Journal of Human Genetics. vol. 110, n° 6, pp. 998-1007, 2023-06-01)Article de revue -
L-asparaginase anti-tumor activity in pancreatic cancer is dependent on its glutaminase activity and resistance is mediated by glutamine synthetase
(Experimental Cell Research. vol. 426, n° 2, pp. 113568, 2023-05-15)Article de revue -
Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: the inflammasome hypothesis.
(AIDS. Official journal of the international AIDS Society. vol. 37, n° 7, pp. 1035-1046, 2023-06-01)Article de revue -
First clinical description of a pedigree with complete NAF1 deletion
(Leukemia & lymphoma. vol. 64, n° 2, pp. 487-490, 2023-02-01)Article de revue -
Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
(Clinical Genetics. vol. 103, n° 3, pp. 358-363, 2023-03-01)Article de revueLibre accès -
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 accès -
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 -
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
(American Journal of Medical Genetics Part A. vol. 191, n° 1, pp. 52-63, 2023-01-01)Article de revue -
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 -
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 accès