Constellation, le dépôt institutionnel de l'Université du Québec à Chicoutimi

2008

Plante, Marie, Claveau, S., Lepage, P., Lavoie, Ève-Marie, Brunet, S., Roquis, D., Morin, Charles, Vézina, Hélène et Laprise, Catherine. (2008). Mucolipidosis II : a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clinical Genetics, 73, (3), p. 236-244.

2011

Legault, Jean, Larouche, Pierre-Luc, Côté, Isabelle, Bouchard, Line, Pichette, André, Robinson, Brian H et Morin, Charles. (2011). Low-concentration methylene blue maintains energy production and strongly improves survival of leigh syndrome french canadian skin fibroblasts. Journal of Pharmacy & Pharmaceutical Sciences, 14, (3), p. 438-449.

2013

Bchetnia, Mbarka, Farez, Tarik, Lacroix, Jacynthe, Leclerc, Georgette, Powell, Julie, McCuaig, Catherine, Legendre-Guillemin, Valérie, Dupérée, Audrey, Morin, Charles et Laprise, Catherine. (2013). Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. Journal of Dermatological Science, 69, (1), p. 80-82.

2015

Bchetnia, Mbarka, Lacroix, Jacynthe, Farez, Tarik, Larouche, Miriam, Powell, Julie, McCuaig, Catherine, Dupéré, Audrey, Morin, Charles, Legendre-Guillemin, Valérie et Laprise, Catherine. (2015). Reduction in keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. Experimental Dermatology, 25, (3), p. 229-230.

Bchetnia, Mbarka, Lacroix, Jacynthe, Farez, Tarik, Larouche, Miriam, Powell, Julie, McCuaig, Catherine, Dupéré, Audrey, Morin, Charles, Legendre-Guillemin, Valérie et Laprise, Catherine. (2015). Reduction of keratin aggregates in epidermolysis bullosa simplex keratinocytes after pretreatment with trimethylamine N-oxide. Experimental dermatology, 25, (3), p. 229-230.

Marenholz, Ingo, Esparza-Gordillo, Jorge, Rüschendorf, Franz, Bauerfeind, Anja, Strachan, David P., Spycher, Ben D., Baurecht, Hansjörg, Margaritte-Jeannin, Patricia, Sääf, Annika, Kerkhof, Marjan, Ege, Markus, Baltic, Svetlana, Matheson, Melanie C., Li, Jin, Michel, Sven, Ang, Wei Q., McArdle, Wendy, Arnold, Andreas, Homuth, Georg, Demenais, Florence, Bouzigon, Emmanuelle, Söderhäll, Cilla, Pershagen, Göran, de Jongste, Johan C., Postma, Dirkje S., Braun-Fahrländer, Charlotte, Horak, Elisabeth, Ogorodova, Ludmila M., Puzyrev, Valery P., Bragina, Elena Yu, Hudson, Thomas J., Morin, Charles, Duffy, David L., Marks, Guy B., Robertson, Colin F., Montgomery, Grant W., Musk, Bill, Thompson, Philip J., Martin, Nicholas G., James, Alan, Sleiman, Patrick, Toskala, Elina, Rodriguez, Elke, Fölster-Holst, Regina, Franke, Andre, Lieb, Wolfgang, Gieger, Christian, Heinzmann, Andrea, Rietschel, Ernst, Keil, Thomas, Cichon, Sven, Nöthen, Markus M., Pennell, Craig E., Sly, Peter D., Schmidt, Carsten O., Matanovic, Anja, Schneider, Valentin, Heinig, Matthias, Hübner, Norbert, Holt, Patrick G., Lau, Susanne, Kabesch, Michael, Weidinger, Stefan, Hakonarson, Hakon, Ferreira, Manuel A. R., Laprise, Catherine, Freidin, Maxim B., Genuneit, Jon, Koppelman, Gerard H., Melén, Erik, Dizier, Marie- Hélène, Henderson, A John et Lee, Young Ae. (2015). Meta-analysis identifies seven susceptibility loci involved in the atopic march. Nature Communications, 6, (8804), p. 1-8.

Thompson Legault, Julie, Strittmatter, Laura, Tardif, Jessica, Sharma, Rohit, Tremblay-Vaillancourt, Vanessa, Aubut, Chantale, Boucher, Gabrielle, Clish, Clary B., Cyr, Denis, Daneault, Caroline, Waters, Paula J., Vachon, Luc, Morin, Charles, Laprise, Catherine, Rioux, John D., Mootha, Vamsi K. et Des Rosiers, Christine. (2015). A metabolic signature of mitochondrial dysfunction revealed through a monogenic form of Leigh syndrome. Cell Reports, 13, (5), p. 981-989.

2021

Bchetnia, Mbarka, Bouchard, Luigi, Mathieu, Jean, Campeau, Philippe M, Morin, Charles, Brisson, Diane, Laberge, Anne-Marie, Vézina, Hélène, Gaudet, Daniel et Laprise, Catherine. (2021). Genetic burden linked to founder effects in Saguenay–Lac-Saint-Jean illustrates the importance of genetic screening test availability. Journal of Medical Genetics, 58, (10), p. 653-665.

Simard, Mathieu, Madore, Anne-Marie, Girard, Simon, Waserman, Susan, Duan, Qingling, Subbarao, Padmaja, Sears, Malcolm R., Moraes, Theo J., Becker, Allan B., Turvey, Stuart E., Mandhane, Piushkumar J., Morin, Charles, Bégin, Philippe et Laprise, Catherine. (2021). Polygenic risk score for atopic dermatitis in the Canadian population. Journal of Allergy and Clinical Immunology, 147, (1), p. 406-409.

2022

Bchetnia, Mbarka, Martineau, Laurie, Racine, Véronique, Powell, Julie, McCuaig, Catherine, Morin, Charles, Dupérée, Audrey, Gros-Louis, François et Laprise, Catherine. (2022). Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations. Stem Cell Research, 60, e102726.

Bchetnia, Mbarka, Martineau, Laurie, Racine, Véronique, Powell, Julie, McCuaig, Catherine, Morin, Charles, Dupérée, Audrey, Gros-Louis, François et Laprise, Catherine. (2022). Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations. Stem Cell Research, 61, e102750.

Bchetnia, Mbarka, Tardif, Jessica, Morin, Charles et Laprise, Catherine. (2022). Expression signature of the Leigh syndrome French-Canadian type. Molecular Genetics and Metabolism Reports, 30, e100847.

Lavoie, Marie-Eve, Meloche, Jolyane, Boucher-Lafleur, Anne-Marie, Bégin, Paul, Morin, Charles, Boulet, Louis-Philippe, Madore, Anne-Marie et Laprise, Catherine. (2022). Longitudinal follow-up of the asthma status in a French–Canadian cohort. Scientific Reports, 12, e13789.