420 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. 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
5. 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
6. Molecular characterization of Richter syndrome identifies de novo diffuse large B-cell lymphomas with poor prognosis
7. 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
8. Pholcodine exposure increases the risk of perioperative anaphylaxis to neuromuscular blocking agents: the ALPHO case-control study
9. Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes
10. 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
11. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
12. Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis.
13. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
14. Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping
15. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
16. 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
17. A systematic review and meta-analysis of proteomic and metabolomic alterations in anaphylaxis reactions
18. Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis
19. Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial
20. Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
21. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
22. Une épimutation transgénérationnelle du gène MMACHC produit un nouveau type d’erreur innée du métabolisme dénommée épi-cblC
23. Plasma mSEPT9: A Novel Circulating Cell-free DNA-Based Epigenetic Biomarker to Diagnose Hepatocellular Carcinoma
24. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
25. Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
26. MicroRNAs miR-16 and miR-519 control meningioma cell proliferation via overlapping transcriptomic programs shared with the RNA-binding protein HuR
27. Pholcodine exposure increases the risk of perioperative anaphylaxis to neuromuscular blocking agents: the ALPHO case-control study
28. Telomere length in granulosa cells and leukocytes: a potential marker of female fertility? A systematic review of the literature
29. A systematic review and metaanalysis of proteomic and metabolomic alterations in anaphylaxis reactions.
30. Cognitive Impairment Is Associated with AMPAR Glutamatergic Dysfunction in a Mouse Model of Neuronal Methionine Synthase Deficiency
31. Folate can promote the methionine-dependent reprogramming of glioblastoma cells towards pluripotency
32. Additional file 1 of 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
33. Stemness of Normal and Cancer Cells: The Influence of Methionine Needs and SIRT1/PGC-1α/PPAR-α Players
34. La vitamine B12 et les maladies génétiques associées
35. Common genetic variation in alcohol-related hepatocellular carcinoma: a case-control genome-wide association study.
36. Folate and Cobalamin Deficiencies during Pregnancy Disrupt the Glucocorticoid Response in Hypothalamus through N -Homocysteinilation of the Glucocorticoid Receptor.
37. Folates et programmation fœtale : rôle des mécanismes nutrigénomiques et épigénomiques
38. Helicobacter pylori serologic status has no influence on the association between fucosyltransferase 2 polymorphism (FUT2 461 G→A) and vitamin B-12 in Europe and West Africa
39. ALDH1L2 Knockout in U251 Glioblastoma Cells Reduces Tumor Sphere Formation by Increasing Oxidative Stress and Suppressing Methionine Dependency
40. Additional file 2 of Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
41. Additional file 3 of Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
42. Vitamin B12 Deficiency Reduces Proliferation and Promotes Differentiation of Neuroblastoma Cells and Up-Regulates PP2A, proNGF, and TACE
43. Un long ARN non codant régule l’activité de la phénylalanine hydroxylase, l’enzyme responsable de la phénylcétonurie
44. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
45. Positioning Digital Tracing Applications in the Management of the COVID-19 Pandemic in France
46. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
47. [Newborn screening of phenylketonuria in France]
48. 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
49. Ovarian Telomerase and Female Fertility
50. Additional file 1 of PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
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