Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

por Baratang, Nissan Vida, Jimenez Cruz, Daniel Alexander, Ajeawung, Norbert Fonya, Nguyen, Thi Tuyet Mai, Pacheco‐Cuéllar, Guillermo, Campeau, Philippe M.
Publicado 2019

The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice

por Rousseau, Justine, Tene Tadoum, Samuel Boris, Lavertu Jolin, Marisol, Nguyen, Thi Tuyet Mai, Ajeawung, Norbert Fonya, Flenniken, Ann M., Nutter, Lauryl M. J., Vukobradovic, Igor, Rossignol, Elsa, Campeau, Philippe M.
Publicado 2023

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

por Tremblay‐Laganière, Camille, Kaiyrzhanov, Rauan, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Salayev, Kamran, Chilton, Ilana T., Chung, Wendy K., Madden, Jill A., Phornphutkul, Chanika, Agrawal, Pankaj B., Houlden, Henry, Campeau, Philippe M.
Publicado 2020

Preclinical Evaluation of Recombinant Microbial Glycoside Hydrolases in the Prevention of Experimental Invasive Aspergillosis

por Ostapska, Hanna, Raju, Deepa, Lehoux, Melanie, Lacdao, Ira, Gilbert, Stephanie, Sivarajah, Piyanka, Bamford, Natalie C., Baker, Perrin, Nguyen, Thi Tuyet Mai, Zacharias, Caitlin A., Gravelat, Fabrice N., Howell, P. Lynne, Sheppard, Donald C.
Publicado 2021

Characterization of Genetic Elements Carrying mcr-1 Gene in Escherichia coli from the Community and Hospital Settings in Vietnam

por Vu Thi Ngoc, Bich, Le Viet, Thanh, Nguyen Thi Tuyet, Mai, Nguyen Thi Hong, Thuong, Nguyen Thi Ngoc, Diep, Le Van, Duyet, Chu Thi, Loan, Tran Huy, Hoang, Penders, John, Wertheim, Heiman, van Doorn, H. Rogier
Publicado 2022

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

por Castle, Alison M.R., Salian, Smrithi, Bassan, Haim, Sofrin-Drucker, Efrat, Cusmai, Raffaella, Herman, Kristin C., Heron, Delphine, Keren, Boris, Johnstone, Devon L., Mears, Wendy, Morlot, Susanne, Nguyen, Thi Tuyet Mai, Rock, Rachel, Stolerman, Elliot, Russo, Julia, Burns, William Boyce, Jones, Julie R., Serpieri, Valentina, Wallaschek, Hannah, Zanni, Ginevra, Dyment, David A., Campeau, Philippe M.
Publicado 2021

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

por Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Publicado 2020