Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
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Journal Article
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Srour, Myriam, Schwartzentruber, Jeremy, Hamdan, Fadi F., Ospina, Luis H., Patry, Lysanne, Labuda, Damian, Massicotte, Christine, Dobrzeniecka, Sylvia, Capo-Chichi, José-Mario, Papillon-Cavanagh, Simon, Samuels, Mark E., Boycott, Kym M., Shevell, Michael I., Laframboise, Rachel, Désilets, Valérie, Maranda, Bruno, Rouleau, Guy A., Majewski, Jacek, Michaud, Jacques L.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Journal Article
A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case
Larouche, Valérie, Paré, Marie-Frédérique, Grenier, Pierre-Olivier, Wieckowska, Anna, Gagné, Eric, Laframboise, Rachel, Jabado, Nada, De Bie, Isabelle
Published in Current oncology (Toronto) (01.10.2023)
Published in Current oncology (Toronto) (01.10.2023)
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Journal Article
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome
Helgeson, Maria, Keller-Ramey, Jennifer, Knight Johnson, Amy, Lee, Jennifer A, Magner, Daniel B, Deml, Brett, Deml, Jacea, Hu, Ying-Ying, Li, Zejuan, Donato, Kirsten, Das, Soma, Laframboise, Rachel, Tremblay, Sandra, Krantz, Ian, Noon, Sarah, Hoganson, George, Burton, Jennifer, Schaaf, Christian P, Del Gaudio, Daniela
Published in Journal of human genetics (01.03.2018)
Published in Journal of human genetics (01.03.2018)
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Journal Article
Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles
Yang, Hao, Rossignol, Francis, Cyr, Denis, Laframboise, Rachel, Wang, Shu Pei, Soucy, Jean-François, Berthier, Marie-Thérèse, Giguère, Yves, Waters, Paula J., Mitchell, Grant A.
Published in Molecular genetics and metabolism reports (01.03.2018)
Published in Molecular genetics and metabolism reports (01.03.2018)
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Journal Article
No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result
DORVAL, Michel, GAUTHIER, Geneviève, SIMARD, Jacques, MAUNSELL, Elizabeth, DUGAS, Michel J, ROULEAU, Isabelle, CHIQUETTE, Jocelyne, PLANTE, Marie, LAFRAMBOISE, Rachel, GAUDET, Michel, BRIDGE, Peter J
Published in Cancer epidemiology, biomarkers & prevention (01.12.2005)
Published in Cancer epidemiology, biomarkers & prevention (01.12.2005)
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Journal Article
Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families
Durocher, Francine, Labrie, Yvan, Soucy, Penny, Sinilnikova, Olga, Labuda, Damian, Bessette, Paul, Chiquette, Jocelyne, Laframboise, Rachel, Lépine, Jean, Lespérance, Bernard, Ouellette, Geneviève, Pichette, Roxane, Plante, Marie, Tavtigian, Sean V, Simard, Jacques
Published in BMC cancer (29.09.2006)
Published in BMC cancer (29.09.2006)
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Journal Article
“One Degree of Separation”: A Mixed-Methods Evaluation of Canadian Mental Health Care User and Provider Experiences With Remote Care During COVID-19
Ceniti, Amanda K., Abdelmoemin, Wegdan R., Ho, Keith, Kang, Yudi, Placenza, Franca, Laframboise, Rachel, Bhat, Venkat, Foster, Jane A., Frey, Benicio N., Lam, Raymond W., Milev, Roumen, Rotzinger, Susan, Soares, Claudio N., Uher, Rudolf, Kennedy, Sidney H.
Published in Canadian journal of psychiatry (01.09.2022)
Published in Canadian journal of psychiatry (01.09.2022)
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Journal Article
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec
Larochelle, Jean, Alvarez, Fernando, Bussières, Jean-François, Chevalier, Isabelle, Dallaire, Louis, Dubois, Josée, Faucher, Frédéric, Fenyves, Daphna, Goodyer, Paul, Grenier, André, Holme, Elisabeth, Laframboise, Rachel, Lambert, Marie, Lindstedt, Sven, Maranda, Bruno, Melançon, Serge, Merouani, Aicha, Mitchell, John, Parizeault, Guy, Pelletier, Luc, Phan, Véronique, Rinaldo, Piero, Scott, C. Ronald, Scriver, Charles, Mitchell, Grant A.
Published in Molecular genetics and metabolism (01.09.2012)
Published in Molecular genetics and metabolism (01.09.2012)
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Journal Article
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort
Levtova, Alina, Waters, Paula J., Buhas, Daniela, Lévesque, Sébastien, Auray‐Blais, Christiane, Clarke, Joe T.R., Laframboise, Rachel, Maranda, Bruno, Mitchell, Grant A., Brunel‐Guitton, Catherine, Braverman, Nancy E.
Published in Journal of inherited metabolic disease (01.01.2019)
Published in Journal of inherited metabolic disease (01.01.2019)
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Journal Article
LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency
Debray, François-Guillaume, Morin, Charles, Janvier, Annie, Villeneuve, Josée, Maranda, Bruno, Laframboise, Rachel, Lacroix, Jacques, Decarie, Jean-Claude, Robitaille, Yves, Lambert, Marie, Robinson, Brian H, Mitchell, Grant A
Published in Journal of medical genetics (01.03.2011)
Published in Journal of medical genetics (01.03.2011)
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Web Resource
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
Yang, Hao, Al-Hertani, Walla, Cyr, Denis, Laframboise, Rachel, Parizeault, Guy, Wang, Shu Pei, Rossignol, Francis, Berthier, Marie-Thérèse, Giguère, Yves, Waters, Paula J, Mitchell, Grant A
Published in Journal of medical genetics (01.04.2017)
Published in Journal of medical genetics (01.04.2017)
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Journal Article
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
Chénier, Sébastien, Yoon, Grace, Argiropoulos, Bob, Lauzon, Julie, Laframboise, Rachel, Ahn, Joo Wook, Ogilvie, Caroline Mackie, Lionel, Anath C, Marshall, Christian R, Vaags, Andrea K, Hashemi, Bita, Boisvert, Karine, Mathonnet, Géraldine, Tihy, Frédérique, So, Joyce, Scherer, Stephen W, Lemyre, Emmanuelle, Stavropoulos, Dimitri J
Published in Journal of neurodevelopmental disorders (22.04.2014)
Published in Journal of neurodevelopmental disorders (22.04.2014)
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Journal Article
The Québec NTBC Study
Alvarez, Fernando, Atkinson, Suzanne, Bouchard, Manon, Brunel-Guitton, Catherine, Buhas, Daniela, Bussières, Jean-François, Dubois, Josée, Fenyves, Daphna, Goodyer, Paul, Gosselin, Martyne, Halac, Ugur, Labbé, Patrick, Laframboise, Rachel, Maranda, Bruno, Melançon, Serge, Merouani, Aicha, Mitchell, Grant A., Mitchell, John, Parizeault, Guy, Pelletier, Luc, Phan, Véronique, Turcotte, Jean-François
Published in Advances in experimental medicine and biology (2017)
Published in Advances in experimental medicine and biology (2017)
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Book Chapter
Journal Article
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: benign clinical course in an unselected cohort
Levtova, Alina, Waters, Paula J, Buhas, Daniela, Lévesque, Sébastien, Auray-Blais, Christiane, Clarke, Joe T R, Laframboise, Rachel, Maranda, Bruno, Mitchell, Grant A, Brunel-Guitton, Catherine, Braverman, Nancy E
Published in Journal of inherited metabolic disease (01.06.2018)
Published in Journal of inherited metabolic disease (01.06.2018)
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Journal Article
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
Auray-Blais, Christiane, Cyr, Denis, Ntwari, Aimé, West, Michael L., Cox-Brinkman, Josanne, Bichet, Daniel G., Germain, Dominique P., Laframboise, Rachel, Melançon, Serge B., Stockley, Tracy, Clarke, Joe T.R., Drouin, Régen
Published in Molecular genetics and metabolism (01.03.2008)
Published in Molecular genetics and metabolism (01.03.2008)
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