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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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36740706
2.
Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.
Hum Genet
; 141(7): 1309-1325, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35190856
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34495415
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34687232
5.
Elastase and exacerbation of neutrophil innate immunity are involved in multi-visceral manifestations of COVID-19.
Allergy
; 76(6): 1846-1858, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33484168
6.
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Mol Genet Metab
; 130(3): 179-182, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32414565
7.
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.
J Hum Genet
; 65(2): 91-98, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31645654
8.
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.
Hum Genet
; 138(7): 703-713, 2019 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-31139930
9.
Cystathionine ß-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.
J Med Genet
; 53(12): 828-834, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27535090
10.
HLA-DRA variants predict penicillin allergy in genome-wide fine-mapping genotyping.
J Allergy Clin Immunol
; 135(1): 253-9, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25224099
11.
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
Hum Mol Genet
; 22(22): 4591-601, 2013 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23825108
12.
GNAI2 variants predict nonsteroidal anti-inflammatory drug hypersensitivity in a genome-wide study.
Allergy
; 75(5): 1250-1253, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31705548
13.
Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.
EBioMedicine
; 99: 104911, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38168585
14.
Molecular characterization of Richter syndrome identifies de novo diffuse large B-cell lymphomas with poor prognosis.
Nat Commun
; 14(1): 309, 2023 01 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36658118
15.
Stemness of Normal and Cancer Cells: The Influence of Methionine Needs and SIRT1/PGC-1α/PPAR-α Players.
Cells
; 11(22)2022 11 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36429035
16.
Low-frequency Coding Variants Associated With Body Mass Index Affect the Success of Bariatric Surgery.
J Clin Endocrinol Metab
; 107(3): e1074-e1084, 2022 02 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-34718599
17.
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Clin Epigenetics
; 14(1): 52, 2022 04 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-35440018
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21750092
19.
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.
Clin Epigenetics
; 13(1): 179, 2021 09 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34563241
20.
Ionizing radiations induce shared epigenomic signatures unraveling adaptive mechanisms of cancerous cell lines with or without methionine dependency.
Clin Epigenetics
; 13(1): 212, 2021 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34852845