Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211: envíos recientes
Mostrando ítems 81-100 de 174
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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Document de travail - Pré-publicationLibre acceso
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Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
TINGAUD-SEQUEIRA, Angele; TRIMOUILLE, Aurelien
; SAGARDOY, Thomas ...
(Journal of Medical Genetics. vol. 59, n° 5, pp. 417-427, 2022-05-01)Article de revue -
Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.
(ERJ Open Research. vol. 8, n° 1, 2022-01-01)Article de revueLibre acceso
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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
(Investigative Ophthalmology & Visual Science. vol. 63, n° 1, pp. 19, 2022-01-03)Article de revueLibre acceso
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Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Document de travail - Pré-publicationLibre acceso
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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 -
Mesenchymal - Stem and non-Stem - Cells: The name of the rose.
Autre document -
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation.
(JIMD reports. vol. 64, n° 1, pp. 35-41, 2023-01-01)Article de revueLibre acceso
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Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
(Clinical Genetics. vol. 101, n° 4, pp. 390-402, 2022-04-01)Article de revueLibre acceso
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Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
(vol. 58, n° 3, pp. 295-302, 2023-03-01)Article de revueLibre acceso
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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
(International Journal of Molecular Sciences. vol. 23, n° 3, 2022-02-05)Article de revueLibre acceso
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Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
(Journal of Clinical Medicine. vol. 11, n° 5, pp. 1233, 2022-02-24)Article de revueLibre acceso
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Lung Tumor Growth Promotion by Tobacco-Specific Nitrosamines Involves the β2-Adrenergic Receptors-Dependent Stimulation of Mitochondrial REDOX Signaling.
(Antioxidants and Redox Signaling. vol. 36, n° 7-9, pp. 525-549, 2022-03-01)Article de revue -
Lack of vaccination in ventilated patients for SARS-CoV-2 in France.
JOANNES-BOYAU, Olivier; DAHYOT-FIZELIER, Claire; NOUETTE-GAULAIN, Karine
(Anaesthesia Critical Care & Pain Medicine. vol. 41, n° 2, pp. 101021, 2022-04-01)Article de revueLibre acceso
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HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
DARD, Laetitia; HUBERT, Christophe; ESTEVES, Pauline ...
(The Journal of clinical investigation. vol. 132, n° 8, 2022-04-15)Article de revueLibre acceso
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De novo variants in ATP2B1 lead to neurodevelopmental delay.
(American Journal of Human Genetics. vol. 109, n° 5, pp. 944-952, 2022-05-05)Article de revueLibre acceso
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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
(European Journal of Human Genetics. vol. 30, n° 7, pp. 841-847, 2022-07-01)Article de revue -
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
(EBioMedicine. vol. 81, pp. 104130, 2022-07-01)Article de revueLibre acceso
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The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
MICHAUD, Vincent; LASSEAUX, Eulalie; GREEN, David ...
(Nature Communications. vol. 13, n° 1, pp. 3939, 2022-07-08)Article de revueLibre acceso
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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, 2022-03-01)Article de revueLibre acceso