374 results on '"Oussalah, Abderrahim"'
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2. Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability
3. 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
4. Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth
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. 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
7. MUC13 Cell Surface Mucin Limits Salmonella Typhimurium Infection by Protecting the Mucosal Epithelial Barrier
8. Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes
9. 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
10. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
11. Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis.
12. Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis
13. Heterozygous Mutations in Both the AMN and CBS Genes: Double Haploinsufficiency as an Unusual Cause of Vitamin B12 Deficiency—A Case Report.
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. Common genetic variation in alcohol-related hepatocellular carcinoma: a case-control genome-wide association study
17. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
18. Accuracy of procalcitonin for diagnosing peripheral blood culture contamination among patients with positive blood culture for potential contaminants
19. Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
20. 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
21. Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1)
22. Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis
23. Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency
24. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
25. Integrative genomics analysis of nasal intestinal-type adenocarcinomas demonstrates the major role of CACNA1C and paves the way for a simple diagnostic tool in male woodworkers
26. Une épimutation transgénérationnelle du gène MMACHC produit un nouveau type d’erreur innée du métabolisme dénommée épi-cblC
27. Plasma mSEPT9: A Novel Circulating Cell-free DNA-Based Epigenetic Biomarker to Diagnose Hepatocellular Carcinoma
28. Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway
29. COPPS, a composite score integrating pathological features, PS100 and SDHB losses, predicts the risk of metastasis and progression-free survival in pheochromocytomas/paragangliomas
30. MicroRNAs miR-16 and miR-519 control meningioma cell proliferation via overlapping transcriptomic programs shared with the RNA-binding protein HuR
31. Epigenome alterations in food allergy: A systematic review of candidate gene and epigenome‐wide association studies
32. HLA-DRA variants predict penicillin allergy in genome-wide fine-mapping genotyping
33. 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
34. The Smoothing Method for DNA Methylome Analysis Identifies Highly Accurate Epigenomic Signatures in Epigenome-Wide Association Studies
35. Stemness of Normal and Cancer Cells: The Influence of Methionine Needs and SIRT1/PGC-1α/PPAR-α Players
36. 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
37. Hyperhomocysteinemia in Cardiovascular Diseases: Revisiting Observational Studies and Clinical Trials
38. Ascitic fluid mid-regional-pro-adrenomedullin (MR-pro-ADM): a novel rapid-assay sepsis biomarker to diagnose spontaneous bacterial peritonitis in cirrhotic patients
39. Multistage epigenome-wide association study identifies highly accurate epigenomic signatures in association with hepatocellular carcinoma: The HCC epigenome score
40. Common genetic variation in alcohol-related hepatocellular carcinoma: a case-control genome-wide association study.
41. Plasma soluble triggering receptor expressed on myeloid cells-1 in Crohn's disease
42. 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
43. Additional file 2 of Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
44. Additional file 3 of Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
45. Un long ARN non codant régule l’activité de la phénylalanine hydroxylase, l’enzyme responsable de la phénylcétonurie
46. Common genetic variation in alcohol-related hepatocellular carcinoma: a case-control genome-wide association study
47. Hyperhomocysteinemia in Cardiovascular Diseases: Revisiting Observational Studies and Clinical Trials.
48. Next‐generation sequencing and genotype association studies reveal the association of HLA‐DRB3*02:02 with delayed hypersensitivity to penicillins
49. Low-frequency Coding Variants Associated With Body Mass Index Affect the Success of Bariatric Surgery
50. Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review
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