Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211: envíos recientes
Mostrando ítems 1-20 de 120
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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 -
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
(Nature Genetics. vol. 54, n° 3, pp. 232-239)Article de revueLibre acceso -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
(European Journal of Human Genetics, 2023-10-23)Article de revueLibre acceso -
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 -
A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.
(Small. pp. 2304082, 2023-09-28)Article de revueLibre acceso -
The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins.
(Biochimica et Biophysica Acta - Molecular Basis of Disease. vol. 1869, n° 7, pp. 166767, 2023-10-01)Article de revue