Detalhe da pesquisa
1.
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
2.
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
3.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
4.
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
5.
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
6.
Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.
Sci Rep
; 13(1): 9559, 2023 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37308610
7.
Stemness of Normal and Cancer Cells: The Influence of Methionine Needs and SIRT1/PGC-1α/PPAR-α Players.
Cells
; 11(22)2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36429035
8.
ALDH1L2 Knockout in U251 Glioblastoma Cells Reduces Tumor Sphere Formation by Increasing Oxidative Stress and Suppressing Methionine Dependency.
Nutrients
; 14(9)2022 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35565854
9.
Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.
Haematologica
; 96(11): 1715-9, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750092
10.
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Science
; 373(6555): 662-673, 2021 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34353949
11.
Genetic, epigenetic and genomic mechanisms of methionine dependency of cancer and tumor-initiating cells: What could we learn from folate and methionine cycles.
Biochimie
; 173: 123-128, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32289469
12.
Coronavirus disease 2019: acute Fanconi syndrome precedes acute kidney injury.
Clin Kidney J
; 13(3): 362-370, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32695327
13.
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.
EClinicalMedicine
; 27: 100554, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32984786
14.
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
EBioMedicine
; 51: 102623, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923802
15.
Folate can promote the methionine-dependent reprogramming of glioblastoma cells towards pluripotency.
Cell Death Dis
; 10(8): 596, 2019 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395852
16.
Differential regulation of CDX1 and CDX2 gene expression by deficiency in methyl group donors.
Biochimie
; 90(5): 697-704, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18187048
17.
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia.
Early Hum Dev
; 84(9): 561-7, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18321666
18.
Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2).
J Med Genet
; 44(6): 363-7, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17220211
19.
Plasma mSEPT9: A Novel Circulating Cell-free DNA-Based Epigenetic Biomarker to Diagnose Hepatocellular Carcinoma.
EBioMedicine
; 30: 138-147, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29627389
20.
Association of TCN2 rs1801198 c.776G>C polymorphism with markers of one-carbon metabolism and related diseases: a systematic review and meta-analysis of genetic association studies.
Am J Clin Nutr
; 106(4): 1142-1156, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28814397