1,025 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. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
15. Multiparametric renal function assessment in cirrhotic patients shows high prevalence of medically actionable changes in multiple modules.
16. The EKFC equation outperforms the CKD‐EPI and CKiD equations for GFR estimation in adolescent and young adult kidney transplant patients.
17. Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping
18. Common genetic variation in alcohol-related hepatocellular carcinoma: a case-control genome-wide association study
19. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
20. Accuracy of procalcitonin for diagnosing peripheral blood culture contamination among patients with positive blood culture for potential contaminants
21. Vitamin B12 absorption and malabsorption
22. Behavioral profile of vitamin B12 deficiency: A reflection of impaired brain development, neuronal stress and altered neuroplasticity
23. Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
24. 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
25. A systematic review and meta-analysis of proteomic and metabolomic alterations in anaphylaxis reactions
26. Glucocorticoid Receptor Activation Restores Learning Memory by Modulating Hippocampal Plasticity in a Mouse Model of Brain Vitamin B12 Deficiency
27. Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1)
28. Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis
29. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial
30. Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
31. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
32. SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders
33. Maternal Folate, Methyl Donors, One-Carbon Metabolism, Vitamin B12 and Choline in Foetal Programming
34. Une épimutation transgénérationnelle du gène MMACHC produit un nouveau type d’erreur innée du métabolisme dénommée épi-cblC
35. Plasma mSEPT9: A Novel Circulating Cell-free DNA-Based Epigenetic Biomarker to Diagnose Hepatocellular Carcinoma
36. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
37. Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
38. Wnt Signaling Pathways Are Dysregulated in Rat Female Cerebellum Following Early Methyl Donor Deficiency
39. Long-term follow-up of neutrophil activation after severe-to-critical SARS-CoV-2 infection: a longitudinal study
40. Cross‐Talk between miRNAs from the Dlk1‐Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency
41. MicroRNAs miR-16 and miR-519 control meningioma cell proliferation via overlapping transcriptomic programs shared with the RNA-binding protein HuR
42. Pholcodine exposure increases the risk of perioperative anaphylaxis to neuromuscular blocking agents: the ALPHO case-control study
43. Telomere length in granulosa cells and leukocytes: a potential marker of female fertility? A systematic review of the literature
44. A systematic review and metaanalysis of proteomic and metabolomic alterations in anaphylaxis reactions.
45. Minichromosome maintenance complex component 6 (MCM6) expression correlates with histological grade and survival in endometrioid endometrial adenocarcinoma
46. Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency
47. Folate and Vitamin B12 Gestational Deficiency Disturb Glucocorticoid Response in Hypothalamus Through N-Homocysteinilation of the Glucocorticoid Receptor
48. NOD2 gene variant is a risk factor for postoperative complications in patients with Crohn's disease: A genetic association study
49. Folate can promote the methionine-dependent reprogramming of glioblastoma cells towards pluripotency
50. Epigenome alterations in food allergy: A systematic review of candidate gene and epigenome‐wide association studies
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