Results 41 to 50 of about 1,119,993 (215)

[Molecular diagnosis of tuberculosis].

open access: yesRevue des maladies respiratoires, 2020
Tuberculosis is caused by the M. tuberculosis complex. Its slow growth delays the bacteriological diagnosis based on phenotypic tests. Molecular biology has significantly reduced this delay, notably thanks to the deployment of the Xpert® MTB/RIF test (Cepheid), which detects the M. tuberculosis complex and rifampicin resistance in 2hours.
Morel, Florence   +4 more
openaire   +2 more sources

Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing

open access: yesMolecular Genetics & Genomic Medicine
Background Next‐generation sequencing (NGS) technology enables sample multiplexing for interrogation of multiple regions of interest (ROI). Leveraging this, together with access to affordable NGS platforms, we explored the practicality of moving ...
Wei Cheng David Kuek   +10 more
doaj   +1 more source

Agreement of histologic diagnosis with molecular diagnosis.

open access: yes, 2021
Agreement of histologic diagnosis with molecular diagnosis.
Young Hoon Kim (554681)   +9 more
core   +1 more source

Development of CYP21A2 genotyping assay for the diagnosis of congenital adrenal hyperplasia

open access: yes, 2021
Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all congenital adrenal hyperplasia cases. This deficiency is screened by measuring levels of 17-hydroxyprogesterone, which may vary, causing false positive or ...
Rispoli, Thaiane   +7 more
core   +1 more source

Comparative analysis of aldosterone and renin assays for primary aldosteronism screening

open access: yesScientific Reports
The transition from radioimmunoassay (RIA) to chemiluminescent enzyme immunoassay (CLEIA) for plasma aldosterone concentration (PAC) assays has raised concerns over its impact on primary aldosteronism (PA) diagnosis.
Yuki Taki   +13 more
doaj   +1 more source

Clinical Relevance of Molecular Diagnosis in Patients with Congenital Hypothyroidism [PDF]

open access: yes, 2017
Congenital hypothyroidism, defined as the functional deficiency of thyroid hormones present at birth, occurs in approximately 1: 2,000 to 4,000 newborns. Thyroid hormones play an essential role in the maturation of the central nervous system.
Nicola JP, Nicola, Juan Pablo
core   +1 more source

Orofacial Pain: Molecular Mechanisms, Diagnosis, and Treatment 2021

open access: yes, 2022
The Special Issue “Orofacial Pain: Molecular Mechanisms, Diagnosis, and Treatment 2021” contains 6 articles published by 41 authors from different countries focusing on nucleus accumbens core GABAergic neurons, receptor-interacting serine/threonine ...
Matsuka, Yoshizo, Yoshizo Matsuka
core   +1 more source

Research progress and application status of organoid in breast cancer subtypes

open access: yesBiomolecules & Biomedicine
Breast cancer (BC) is a prevalent malignant tumor that poses a significant health risk to women. The complexity of basic BC research and clinical treatment is influenced by multiple factors, including age, fertility, hormone metabolism, molecular ...
Qiuxia Zhang   +9 more
doaj   +1 more source

Clinical Advances in Molecular Biomarkers for Cancer Diagnosis and Therapy

open access: yes, 2013
Cancer diagnosis is currently undergoing a paradigm shift with the incorporation of molecular biomarkers as part of routine diagnostic panel. The molecular alteration ranges from those involving the DNA, RNA, microRNAs (miRNAs) and proteins.
Philip Philip   +3 more
core   +1 more source

Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome

open access: yes, 2023
The diagnosis and management of fragile X syndrome (FXS) have significantly improved in the last three decades, although the current diagnostic techniques are not yet able to precisely identify the number of repeats, methylation status, level of ...
Monica-Cristina Pânzaru   +9 more
core   +1 more source

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