Detalhe da pesquisa
1.
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
J Med Genet
; 61(4): 378-384, 2024 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37979962
2.
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Brain
; 146(2): 455-460, 2023 02 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36317462
3.
Rapid haemoglobin A and S quantification using Tosoh HLC-723G8 in variant mode for patients with sickle cell disease.
Biomed Chromatogr
; 38(3): e5799, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38041149
4.
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
J Med Genet
; 59(8): 785-792, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34452955
5.
Breast Cancer Chemoresistance: Insights into the Regulatory Role of lncRNA.
Int J Mol Sci
; 24(21)2023 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37958880
6.
Combined Metabolipidomic and Machine Learning Approach in a Rat Model of Stroke Reveals a Deleterious Impact of Brain Injury on Heart Metabolism.
Int J Mol Sci
; 24(15)2023 Jul 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37569376
7.
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Hum Mutat
; 43(2): 128-142, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34837429
8.
In Reply to Performance of Deep Learning in the Interpretation of Serum Protein Electrophoresis.
Clin Chem
; 68(10): 1341-1343, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36107955
9.
Metabolomic Sexual Dimorphism of the Mouse Brain is Predominantly Abolished by Gonadectomy with a Higher Impact on Females.
J Proteome Res
; 20(5): 2772-2779, 2021 05 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33851846
10.
Preliminary Metabolomic Profiling of the Vitreous Humor from Hypothermia Fatalities.
J Proteome Res
; 20(5): 2390-2396, 2021 05 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33818108
11.
Achieving Expert-Level Interpretation of Serum Protein Electrophoresis through Deep Learning Driven by Human Reasoning.
Clin Chem
; 67(10): 1406-1414, 2021 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34491313
12.
Tryptophane-kynurenine pathway in the remote ischemic conditioning mechanism.
Basic Res Cardiol
; 115(2): 13, 2020 01 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31925554
13.
Metabolomic Approach in STEMI-Patients Undergoing Left Ventricular Remodeling.
Int J Mol Sci
; 20(2)2019 01 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30642070
14.
Beyond MEN1, when to think about MEN4? Retrospective study on 5600 patients in the French population & literature review.
J Clin Endocrinol Metab
; 2024 Jan 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38288531
15.
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.
Front Neurol
; 14: 1266686, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38020658
16.
Kynurenic Acid: A Novel Player in Cardioprotection against Myocardial Ischemia/Reperfusion Injuries.
Pharmaceuticals (Basel)
; 16(10)2023 Sep 28.
Artigo
Inglês
| MEDLINE | ID: mdl-37895852
17.
A Metabolomic Signature of Ischemic Stroke Showing Acute Oxidative and Energetic Stress.
Antioxidants (Basel)
; 13(1)2023 Dec 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38247484
18.
Nitric oxide and calcium participate in the fine regulation of mitochondrial biogenesis in follicular thyroid carcinoma cells.
J Biol Chem
; 286(20): 18229-39, 2011 May 20.
Artigo
Inglês
| MEDLINE | ID: mdl-21454643
19.
Clinically Symptomatic Resistance to Thyroid Hormone ß Syndrome Because of THRB Gene Mosaicism.
J Clin Endocrinol Metab
; 107(9): e3548-e3552, 2022 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-35689814
20.
Post-infarct cardiac remodeling predictions with machine learning.
Int J Cardiol
; 355: 1-4, 2022 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35151718