Search Results - "SON NGUYEN, LAM"

Ultra-deep massively parallel sequencing with unique molecular identifier tagging achieves comparable performance to droplet digital PCR for detection and quantification of circulating tumor DNA from lung cancer patients by Tran, Le Son, Pham, Hong-Anh Thi, Tran, Vu-Uyen, Tran, Thanh-Truong, Dang, Anh-Thu Huynh, Le, Dinh-Thong, Nguyen, Son-Lam, Nguyen, Ngoc-Vu, Nguyen, Trieu-Vu, Vo, Binh Thanh, Dao, Hong-Thuy Thi, Nguyen, Nguyen Huu, Tran, Tam Huu, Nguyen, Chu Van, Pham, Phuong Cam, Dang-Mai, Anh Tuan, Dinh-Nguyen, Thien Kim, Phan, Van Hieu, Do, Thanh-Thuy Thi, Truong Dinh, Kiet, Do, Han Ngoc, Phan, Minh-Duy, Giang, Hoa, Nguyen, Hoai-Nghia

“…The identification and quantification of actionable mutations are of critical importance for effective genotype-directed therapies, prognosis and drug response…”
Get full text

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect by Medina-Cano, Daniel, Ucuncu, Ekin, Nguyen, Lam Son, Nicouleau, Michael, Lipecka, Joanna, Bizot, Jean-Charles, Thiel, Christian, Foulquier, François, Lefort, Nathalie, Faivre-Sarrailh, Catherine, Colleaux, Laurence, Guerrera, Ida Chiara, Cantagrel, Vincent

“…Proper brain development relies highly on protein N-glycosylation to sustain neuronal migration, axon guidance and synaptic physiology. Impairing the…”
Get full text

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity by Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.

“…Arthrogryposis multiplex congenita (AMC) is caused by heterogeneous pathologies leading to multiple antenatal joint contractures through fetal akinesia…”
Get full text

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance by Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Laurence, Malan, Valérie

“…Several hypotheses have been proposed to explain the phenotypic variability between parent and offspring carrying the same genomic imbalance, including…”
Get full text

Nonsense-mediated mRNA decay: inter-individual variability and human disease by Nguyen, Lam Son, Wilkinson, Miles F, Gecz, Jozef

“…Nonsense-mediated mRNA decay (NMD) is a regulatory pathway that functions to degrade transcripts containing premature termination codons (PTCs) and to maintain…”
Get full text

A Novel Radio-Aware and Adaptive Numerology Configuration in V2X 5G NR Communications by Nguyen, Thanh-Son-Lam, Kallel, Sondes, Aitsaadi, Nadjib, Adjih, Cedric, Fajjari, Ilhem

“…As the main goal of connected autonomous vehicles' communications is to improve the traffic safety and save lives, any design of a resource allocation scheme…”
Get full text

The emerging roles of MicroRNAs in autism spectrum disorders by Fregeac, Julien, Colleaux, Laurence, Nguyen, Lam Son

“…•microRNAs (miRNAs) have important roles in development and function of the brain.•Mutations of miRNA genes are associated with autism spectrum disorders…”
Get full text

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth by Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.

“…With a wealth of disease-associated DNA variants being recently reported, the challenges of providing their functional characterization are mounting…”
Get full text

Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits by Fregeac, Julien, Moriceau, Stéphanie, Poli, Antoine, Nguyen, Lam Son, Oury, Franck, Colleaux, Laurence

“…Formation and maintenance of appropriate neural networks require tight regulation of neural stem cell proliferation, differentiation, and neurogenesis…”
Get full text

Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders by Nguyen, Lam Son, Fregeac, Julien, Bole-Feysot, Christine, Cagnard, Nicolas, Iyer, Anand, Anink, Jasper, Aronica, Eleonora, Alibeu, Olivier, Nitschke, Patrick, Colleaux, Laurence

“…MicroRNAs (miRNAs) are small, non-coding RNAs that regulate gene expression at the post-transcriptional level. miRNAs have emerged as important modulators of…”
Get full text

Rare copy number variation in cerebral palsy by McMichael, Gai, Girirajan, Santhosh, Moreno-De-Luca, Andres, Gecz, Jozef, Shard, Chloe, Nguyen, Lam Son, Nicholl, Jillian, Gibson, Catherine, Haan, Eric, Eichler, Evan, Martin, Christa Lese, MacLennan, Alastair

“…Recent studies have established the role of rare copy number variants (CNVs) in several neurological disorders but the contribution of rare CNVs to cerebral…”
Get full text

Profiling olfactory stem cells from living patients identifies miRNAs relevant for autism pathophysiology by Nguyen, Lam Son, Lepleux, Marylin, Makhlouf, Mélanie, Martin, Christelle, Fregeac, Julien, Siquier-Pernet, Karine, Philippe, Anne, Feron, François, Gepner, Bruno, Rougeulle, Claire, Humeau, Yann, Colleaux, Laurence

“…Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders caused by the interaction between genetic vulnerability and environmental factors…”
Get full text

Study on the reducibility of iron ore pellets at high temperature by Nguyen, Cao-Son, Nguyen, Thanh-Hoan, Nguyen, Son-Lam, Bui, Anh-Hoa

“…The behaviour of iron ore pellets in a blast furnace must be considered to improve ironmaking operations, especially when a large amount of the pellets is…”
Get full text

DeTrAP: A Novel AI/ML V2X 5G NR Adaptive Physical Layer Configuration by Nguyen, Thanh-Son-Lam, Kallel, Sondes, Aitsaadi, Nadjib

“…The 5G cellular network provides vital support for enabling fast and dependable communication in dynamic environments, which is crucial for connected…”
Get full text

Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disability by Nguyen, Huy Hoang, Pham, Van Anh, Barcia, Giulia, Malan, Valérie, Nguyen, Kiem Lien Thi, Ngo, Diem Ngoc, Nguyen, Thu Hien, Landrieu, Pierre, Colleaux, Laurence, Nong, Van Hai, Nguyen, Lam Son

“…The clinical presentation of distal duplications of the long arm of chromosome (chr) 16 is currently not well described. Only one case of microduplication of…”
Get full text

Broadening the phenotype associated with mutations in UPF3B: Two further cases with renal dysplasia and variable developmental delay by Lynch, Sally Ann, Nguyen, Lam Son, Ng, Li Yen, Waldron, Mary, McDonald, Denise, Gecz, Jozef

“…Abstract We present two brothers with mutations in UPF3B , an X-linked intellectual disability gene. Our family consists of two affected brothers and a carrier…”
Get full text

A Flexible Numerology Configuration for Efficient Resource Allocation in 3GPP V2X 5G New Radio by Nguyen, Thanh-Son-Lam, Kallel, Sondes, Aitsaadi, Nadjib, Adjih, Cedric, Fajjari, Ilhem

“…Low latency and high-reliability communications for applications' flows is one of the main 5G cellular network objective, which is especially relevant for…”
Get full text

Simian virus 40 may be associated with developing malignant pleural mesothelioma by THANH, TRAN DINH, THO, NGUYEN VAN, LAM, NGUYEN SON, DUNG, NGUYEN HUY, TABATA, CHIHARU, NAKANO, YASUTAKA

“…Malignant pleural mesothelioma (MPM) is associated with a history of heavy, long-term exposure to asbestos. However, MPM may also be associated with simian…”
Get full text

Machine learning based classification model for screening of infected patients using vital signs by Han, Trong Thanh, Pham, Huong Yen, Nguyen, Dang Son Lam, Iwata, Yuki, Do, Trong Tuan, Ishibashi, Koichiro, Sun, Guanghao

“…The classification of healthy versus infected persons, and the early detection of disease sources, plays an important role in preventing spread of disease and…”
Get full text

AHB-master controller formal compliance verification by Nguyen, Son Lam, Nguyen, Duc Minh

“…In this paper, we use the monitor method to develop a verification intellectual property (VIP) core for Advanced Microcontroller Bus Architecture Advance…”
Get full text