Search Results - "LAFRAMBOISE, Rachel"

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency by Bouffet, Eric, Larouche, Valérie, Campbell, Brittany B, Merico, Daniele, de Borja, Richard, Aronson, Melyssa, Durno, Carol, Krueger, Joerg, Cabric, Vanja, Ramaswamy, Vijay, Zhukova, Nataliya, Mason, Gary, Farah, Roula, Afzal, Samina, Yalon, Michal, Rechavi, Gideon, Magimairajan, Vanan, Walsh, Michael F, Constantini, Shlomi, Dvir, Rina, Elhasid, Ronit, Reddy, Alyssa, Osborn, Michael, Sullivan, Michael, Hansford, Jordan, Dodgshun, Andrew, Klauber-Demore, Nancy, Peterson, Lindsay, Patel, Sunil, Lindhorst, Scott, Atkinson, Jeffrey, Cohen, Zane, Laframboise, Rachel, Dirks, Peter, Taylor, Michael, Malkin, David, Albrecht, Steffen, Dudley, Roy W R, Jabado, Nada, Hawkins, Cynthia E, Shlien, Adam, Tabori, Uri

“…Recurrent glioblastoma multiforme (GBM) is incurable with current therapies. Biallelic mismatch repair deficiency (bMMRD) is a highly penetrant childhood…”
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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 by 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.

“…Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor…”
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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population by 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.

“…Joubert syndrome (JBTS) is an autosomal-recessive disorder characterized by a distinctive mid-hindbrain malformation, developmental delay with hypotonia,…”
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A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case by Larouche, Valérie, Paré, Marie-Frédérique, Grenier, Pierre-Olivier, Wieckowska, Anna, Gagné, Eric, Laframboise, Rachel, Jabado, Nada, De Bie, Isabelle

“…Mastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive…”
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome by 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

“…Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or…”
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A Search for the Possible Molecular Mechanisms of Thyroid Dysgenesis: Sex Ratios and Associated Malformations by Devos, Heidi, Rodd, Celia, Gagné, Nancy, Laframboise, Rachel, Van Vliet, Guy

“…Permanent primary congenital hypothyroidism (CH) can be caused by abnormal thyroid differentiation (athyreosis), migration (ectopy), or function (leading to…”
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Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles by 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.

“…A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700). HT1…”
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No Evidence of False Reassurance among Women with an Inconclusive BRCA1/2 Genetic Test Result by DORVAL, Michel, GAUTHIER, Geneviève, SIMARD, Jacques, MAUNSELL, Elizabeth, DUGAS, Michel J, ROULEAU, Isabelle, CHIQUETTE, Jocelyne, PLANTE, Marie, LAFRAMBOISE, Rachel, GAUDET, Michel, BRIDGE, Peter J

“…Background: Little is known about how women who receive an inconclusive result from BRCA1/2 testing interpret their result. Clinical observations suggest that…”
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Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families by 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

“…Ataxia telangiectasia-mutated and Rad3-related (ATR) is a member of the PIK-related family which plays, along with ATM, a central role in cell-cycle…”
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A First Case of Noonan Syndrome SOS2 related with Leukodystrophy, Disseminated Neurofibromas and Polyneuropathy (397) by Gauvreau, Claudie, Labrie, Yvan, Laframboise, Rachel, Lace, Baiba, Rivest, Serge, Chrestian, Nicolas

“…Abstract only…”
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Musculo-mucous web velum and velopharyngeal dysfunction associated with 8q22.1–22.2 microduplication by Trudel, Mathieu, Laframboise, Rachel, Leclerc, Jacques E.

“…This report presents a rare case of isolated non-cleft velopharyngeal dysfunction (VPD). An eight-year-old child presented 1. a phenotypically unique band-gap…”
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Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report by Poulin, Marc-Antoine, Laframboise, Rachel, Blouin, Marie-Julie

“…Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disease characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment,…”
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“One Degree of Separation”: A Mixed-Methods Evaluation of Canadian Mental Health Care User and Provider Experiences With Remote Care During COVID-19 by 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.

“…Objectives The COVID-19 pandemic has contributed to a shift from in-person to remote mental health care. While remote care methods have long existed, their…”
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Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort by 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.

“…Background The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications,…”
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Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec by 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.

“…Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency, MIM 276700) can cause severe hepatic, renal and peripheral nerve damage. In Québec, HT1…”
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LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency by 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

“…The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the…”
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Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency by 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

“…A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by…”
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The Québec NTBC Study by 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

“…In this chapter we describe the current Quebec NTBC Study protocol. Quebec's unique characteristics have influenced the development of the protocol, including…”
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CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems by 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

“…The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone…”
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Combined malonic and methylmalonic aciduria due to ACSF3 mutations: benign clinical course in an unselected cohort by 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

“…The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected…”
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