Detalhe da pesquisa
1.
Causes and consequences of impaired methionine synthase activity in acquired and inherited disorders of vitamin B12 metabolism.
Crit Rev Biochem Mol Biol
; 57(2): 133-155, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34608838
2.
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.
Hum Genomics
; 17(1): 5, 2023 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740706
3.
Multiparametric renal function assessment in cirrhotic patients shows high prevalence of medically actionable changes in multiple modules.
Hepatol Res
; 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662338
4.
The EKFC equation outperforms the CKD-EPI and CKiD equations for GFR estimation in adolescent and young adult kidney transplant patients.
Nephrology (Carlton)
; 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38803085
5.
Epigenome alterations in food allergy: A systematic review of candidate gene and epigenome-wide association studies.
Clin Exp Allergy
; 53(3): 259-275, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36756739
6.
The importance of vitamin B12 for individuals choosing plant-based diets.
Eur J Nutr
; 62(3): 1551-1559, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36469110
7.
Pholcodine exposure increases the risk of perioperative anaphylaxis to neuromuscular blocking agents: the ALPHO case-control study.
Br J Anaesth
; 131(1): 150-158, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967281
8.
Folate and Cobalamin Deficiencies during Pregnancy Disrupt the Glucocorticoid Response in Hypothalamus through N-Homocysteinilation of the Glucocorticoid Receptor.
Int J Mol Sci
; 24(12)2023 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372992
9.
Common genetic variation in alcohol-related hepatocellular carcinoma: a case-control genome-wide association study.
Lancet Oncol
; 23(1): 161-171, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34902334
10.
Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.
Hum Mol Genet
; 29(12): 1969-1985, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32068834
11.
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.
Hum Genet
; 141(7): 1309-1325, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190856
12.
Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review.
Hum Genet
; 141(7): 1239-1251, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652574
13.
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.
Hum Genet
; 141(7): 1269-1278, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34495415
14.
Next-generation sequencing and genotype association studies reveal the association of HLA-DRB3*02:02 with delayed hypersensitivity to penicillins.
Allergy
; 77(6): 1827-1834, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687232
15.
Fetal Programming by Methyl Donor Deficiency Produces Pathological Remodeling of the Ascending Aorta.
Arterioscler Thromb Vasc Biol
; 41(6): 1928-1941, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33827257
16.
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Hum Mutat
; 42(12): 1576-1583, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570399
17.
Elastase and exacerbation of neutrophil innate immunity are involved in multi-visceral manifestations of COVID-19.
Allergy
; 76(6): 1846-1858, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33484168
18.
Accuracy of procalcitonin for diagnosing peripheral blood culture contamination among patients with positive blood culture for potential contaminants.
Infection
; 49(6): 1249-1255, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34524647
19.
Positioning Digital Tracing Applications in the Management of the COVID-19 Pandemic in France.
J Med Internet Res
; 23(10): e27301, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313588
20.
Long-term ACE Inhibitor/ARB Use Is Associated With Severe Renal Dysfunction and Acute Kidney Injury in Patients With Severe COVID-19: Results From a Referral Center Cohort in the Northeast of France.
Clin Infect Dis
; 71(9): 2447-2456, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32623470