1,078 results on '"Guéant, Jean-Louis"'
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2. Apport des techniques de séquençage de l’ADN de nouvelle génération en pratique et en recherche médicale en France
3. Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability
4. Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications
5. A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism
6. Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases
7. Molecular characterization of Richter syndrome identifies de novo diffuse large B-cell lymphomas with poor prognosis
8. Usefulness of procalcitonin at admission as a risk-stratifying biomarker for 50-day in-hospital mortality among patients with community-acquired bloodstream infection: an observational cohort study
9. Pholcodine exposure increases the risk of perioperative anaphylaxis to neuromuscular blocking agents: the ALPHO case-control study
10. Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes
11. Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study
12. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
13. Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis.
14. Multiparametric renal function assessment in cirrhotic patients shows high prevalence of medically actionable changes in multiple modules.
15. The EKFC equation outperforms the CKD‐EPI and CKiD equations for GFR estimation in adolescent and young adult kidney transplant patients.
16. Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping
17. Common genetic variation in alcohol-related hepatocellular carcinoma: a case-control genome-wide association study
18. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
19. Accuracy of procalcitonin for diagnosing peripheral blood culture contamination among patients with positive blood culture for potential contaminants
20. Vitamin B12 absorption and malabsorption
21. Behavioral profile of vitamin B12 deficiency: A reflection of impaired brain development, neuronal stress and altered neuroplasticity
22. Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients
23. Beneficial and deleterious effects of sitagliptin on a methionine/choline-deficient diet-induced steatohepatitis in rats
24. Medium term post-bariatric surgery deficit of vitamin B12 is predicted by deficit at time of surgery
25. Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
26. Health outcomes associated with vegetarian diets: An umbrella review of systematic reviews and meta-analyses
27. Knowledge gaps in understanding the metabolic and clinical effects of excess folates/folic acid: a summary, and perspectives, from an NIH workshop
28. The spectrum of biochemical alterations associated with organ dysfunction and inflammatory status and their association with disease outcomes in severe COVID-19: A longitudinal cohort and time-series design study
29. The deficit in folate and vitamin B12 triggers liver macrovesicular steatosis and inflammation in rats with dextran sodium sulfate-induced colitis
30. Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency
31. Genetic, epigenetic and genomic mechanisms of methionine dependency of cancer and tumor-initiating cells: What could we learn from folate and methionine cycles
32. Mechanisms of homocysteine-induced damage to the endothelial, medial and adventitial layers of the arterial wall
33. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial
34. Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study
35. A systematic review and meta-analysis of proteomic and metabolomic alterations in anaphylaxis reactions
36. Glucocorticoid Receptor Activation Restores Learning Memory by Modulating Hippocampal Plasticity in a Mouse Model of Brain Vitamin B12 Deficiency
37. Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1)
38. Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis
39. Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
40. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
41. SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders
42. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
43. Efficacy of low dose nitisinone in the management of alkaptonuria
44. Vitamin B-12 and liver activity and expression of methionine synthase are decreased in fetuses with neural tube defects
45. Maternal Folate, Methyl Donors, One-Carbon Metabolism, Vitamin B12 and Choline in Foetal Programming
46. Folate and vitamin B12 status is associated with insulin resistance and metabolic syndrome in morbid obesity
47. Une épimutation transgénérationnelle du gène MMACHC produit un nouveau type d’erreur innée du métabolisme dénommée épi-cblC
48. Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
49. Wnt Signaling Pathways Are Dysregulated in Rat Female Cerebellum Following Early Methyl Donor Deficiency
50. Long-term follow-up of neutrophil activation after severe-to-critical SARS-CoV-2 infection: a longitudinal study
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