Targeted NGS platforms for genetic screening and gene discovery in primary immunodeficiencies
… Rapid molecular diagnostics of severe primary immunodeficiency determined by using
targeted next-generation sequencing. J Allergy Clin Immunol. (2016) 138:1142–51.…
targeted next-generation sequencing. J Allergy Clin Immunol. (2016) 138:1142–51.…
[HTML][HTML] Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
GRS Segundo - Jornal de Pediatria, 2021 - SciELO Brasil
… The NGS was … The NGS allows us different levels of study according to the interest of ongoing
genetic research and has been extremely useful in assessing primary immunodeficiencies. …
genetic research and has been extremely useful in assessing primary immunodeficiencies. …
Diagnostic yield of next generation sequencing in genetically undiagnosed patients with primary immunodeficiencies: a systematic review
HAF Yska, K Elsink, TW Kuijpers, GWJ Frederix… - Journal of clinical …, 2019 - Springer
… We aimed to study the use of NGS in a clinical setting. To this end, we selected all … of NGS
in patients that had previously been clinically diagnosed with a primary immunodeficiency or …
in patients that had previously been clinically diagnosed with a primary immunodeficiency or …
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies
IJ Nijman, JM van Montfrans, M Hoogstraat… - Journal of Allergy and …, 2014 - Elsevier
… Primary immunodeficiency (PID) disorders are a heterogeneous group of inherited disorders
caused by a variety of monogenetic immune defects. Thus far, mutations in more than 170 …
caused by a variety of monogenetic immune defects. Thus far, mutations in more than 170 …
Next-generation sequencing in the field of primary immunodeficiencies: current yield, challenges, and future perspectives
… Primary immunodeficiencies comprise a group of inborn … Next-generation sequencing
techniques and predominantly … of new genes associated with primary immunodeficiencies. In this …
techniques and predominantly … of new genes associated with primary immunodeficiencies. In this …
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
H Al-Mousa, M Abouelhoda, DM Monies… - Journal of Allergy and …, 2016 - Elsevier
… Molecular genetics techniques are an essential diagnostic tool for primary immunodeficiency
diseases (PIDs). The use of next-generation sequencing (NGS) provides a comprehensive …
diseases (PIDs). The use of next-generation sequencing (NGS) provides a comprehensive …
Primary immunodeficiencies in India: molecular diagnosis and the role of next-generation sequencing
AK Arunachalam, M Maddali, FN Aboobacker… - Journal of clinical …, 2021 - Springer
… associated with severe combined immunodeficiency (SCID) and … Using a targeted gene
panel (TGP)-based NGS strategy, … Here, we describe our targeted NGS results for patients who …
panel (TGP)-based NGS strategy, … Here, we describe our targeted NGS results for patients who …
Utility of next generation sequencing in clinical primary immunodeficiencies
… This paper provides the most updated classification of primary immunodeficiencies. …
This paper discusses the most recently discovered primary immunodeficiencies and a clinical …
This paper discusses the most recently discovered primary immunodeficiencies and a clinical …
[PDF][PDF] Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing
M Fusaro, J Rosain, V Grandin, N Lambert… - Journal of Allergy and …, 2021 - Elsevier
… This study aims to validate a targeted next-generation sequencing panel of 300 genes to
diagnose a cohort of 129 patients with primary immunodeficiency with no prior molecular …
diagnose a cohort of 129 patients with primary immunodeficiency with no prior molecular …
Array‐based sequence capture and next‐generation sequencing for the identification of primary immunodeficiencies
, … Network on Primary Immunodeficiency … - Scandinavian …, 2012 - Wiley Online Library
… We showed in two patients that our primary immunodeficiency array is capable to find the
underlying genetic defect. In both, we found a mutation in a coding region leading to an amino …
underlying genetic defect. In both, we found a mutation in a coding region leading to an amino …
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