Search Results - "DESILETS, Valerie"

Narrative Assessments in Higher Education: A Scoping Review to Identify Evidence-Based Quality Indicators by Chakroun, Molk, Dion, Vincent R., Ouellet, Kathleen, Graillon, Ann, Désilets, Valérie, Xhignesse, Marianne, St-Onge, Christina

“…Narrative comments are increasingly used in assessment to document trainees' performance and to make important decisions about academic progress. However,…”
Get full text

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations by Pacheco‐Cuéllar, Guillermo, Gauthier, Julie, Désilets, Valérie, Lachance, Christian, Lemire‐Girard, Marlène, Rypens, Françoise, Le Deist, Françoise, Decaluwe, Hélène, Duval, Michel, Bouron‐Dal Soglio, Dorothée, Kokta, Victor, Haddad, Élie, Campeau, Philippe M

“…ABSTRACT Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal…”
Get full text

Loss-of-function de novo mutations play an important role in severe human neural tube defects by Lemay, Philippe, Guyot, Marie-Claude, Tremblay, Élizabeth, Dionne-Laporte, Alexandre, Spiegelman, Dan, Henrion, Édouard, Diallo, Ousmane, De Marco, Patrizia, Merello, Elisa, Massicotte, Christine, Désilets, Valérie, Michaud, Jacques L, Rouleau, Guy A, Capra, Valeria, Kibar, Zoha

“…Neural tube defects (NTDs) are very common and severe birth defects that are caused by failure of neural tube closure and that have a complex aetiology…”
Get more information

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,…”
Get full text

Reflecting on professional identity in undergraduate medical education: implementation of a novel longitudinal course by Désilets, Valérie, Graillon, Ann, Ouellet, Kathleen, Xhignesse, Marianne, St-Onge, Christina

“…Background Today’s healthcare professionals face numerous challenges. Improving reflection skills has the potential to contribute to the better management of…”
Get full text

Functional Zebrafish Studies Based on Human Genotyping Point to Netrin-1 as a Link Between Aberrant Cardiovascular Development and Thyroid Dysgenesis by Opitz, Robert, Hitz, Marc-Philip, Vandernoot, Isabelle, Trubiroha, Achim, Abu-Khudir, Rasha, Samuels, Mark, Désilets, Valérie, Costagliola, Sabine, Andelfinger, Gregor, Deladoëy, Johnny

“…Congenital hypothyroidism caused by thyroid dysgenesis (CHTD) is a common congenital disorder with a birth prevalence of 1 case in 4000 live births, and up to…”
Get full text

Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data by Thuriot, Fanny, Buote, Caroline, Gravel, Elaine, Chénier, Sébastien, Désilets, Valérie, Maranda, Bruno, Waters, Paula J, Jacques, Pierre-Etienne, Lévesque, Sébastien

“…Purpose We sought to determine the diagnostic yield of whole-exome sequencing (WES) combined with phenotype-driven analysis of variants in patients with…”
Get full text

No. 363-Investigation and Management of Non-immune Fetal Hydrops by Désilets, Valérie, De Bie, Isabelle, Audibert, François

“…To describe the current investigation and management of non-immune fetal hydrops with a focus on treatable or recurring etiologies. To provide better…”
Get full text

Mutations in TMEM231 cause Joubert syndrome in French Canadians by Srour, Myriam, Hamdan, Fadi F, Schwartzentruber, Jeremy A, Patry, Lysanne, Ospina, Luis H, Shevell, Michael I, Désilets, Valérie, Dobrzeniecka, Sylvia, Mathonnet, Géraldine, Lemyre, Emmanuelle, Massicotte, Christine, Labuda, Damian, Amrom, Dina, Andermann, Eva, Sébire, Guillaume, Maranda, Bruno, Rouleau, Guy A, Majewski, Jacek, Michaud, Jacques L

“…Joubert syndrome (JBTS) is a predominantly autosomal recessive disorder characterised by a distinctive midhindbrain malformation, oculomotor apraxia, breathing…”
Get more information

Delayed Child-Bearing by Johnson, Jo-Ann, MD, Calgary AB, Tough, Suzanne, PhD, Calgary AB

“…Abstract Objective To provide an overview of delayed child-bearing and to describe the implications for women and health care providers. Options Delayed…”
Get full text

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing by Lévesque, Sébastien, Auray-Blais, Christiane, Gravel, Elaine, Boutin, Michel, Dempsey-Nunez, Laura, Jacques, Pierre-Etienne, Chenier, Sébastien, Larue, Sandrine, Rioux, Marie-France, Al-Hertani, Walla, Nadeau, Amelie, Mathieu, Jean, Maranda, Bruno, Désilets, Valérie, Waters, Paula J, Keutzer, Joan, Austin, Stephanie, Kishnani, Priya

“…Late-onset Pompe disease (LOPD) is a rare treatable lysosomal storage disorder characterized by progressive lysosomal glycogen accumulation and muscle…”
Get full text

Quality of Narratives in Assessment: Piloting a List of Evidence-Based Quality Indicators by Chakroun, Molk, Dion, Vincent R, Ouellet, Kathleen, Graillon, Ann, Désilets, Valérie, Xhignesse, Marianne, St-Onge, Christina

“…Appraising the quality of narratives used in assessment is challenging for educators and administrators. Although some quality indicators for writing…”
Get full text

Prenatal Screening for Fetal Aneuploidy by Summers, Anne M., MD, Langlois, Sylvie, MD, Wyatt, Phil, MD, PhD, Douglas Wilson, R., MD, Allen, Victoria, MD, Blight, Claire, RN, Desilets, Valerie, MD, Gagnon, Alain, MD, Johnson, Jo-Ann, MD, Chitayat, David, MD, Chudley, Albert E., MD, Farrell, Sandra A., MD, Geraghty, Michael T., MD, Li, Chumei, MD, PhD, Nikkel, Sarah M., MD, Shugar, Andrea, MS, Summers, Anne, MD, Tihy, Frederique, PhD, Morin, Lucie, MD, Van den Hof, Michael, MD, Bly, Stephen, MD, Gagnon, Robert, MD, Lewthwaite, Barbara, RN, Cargill, Yvonne M., MD, Ian Lim, Kenneth, MD, Ouellet, Annie, MD

“…Abstract Objective To develop a Canadian consensus document withrecommendations on maternal screening for fetal aneuploidy(e.g., Down syndrome and trisomy 18)…”
Get full text

Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis by Rougemont, Anne‐Laure, Bouron‐Dal Soglio, Dorothée, Désilets, Valérie, Jovanovic, Mubina, Perreault, Gilles, Laurier Oligny, Luc, Fournet, Jean‐Christophe

“…Caudal dysgenesis (CD) constitutes a heterogeneous spectrum of congenital caudal anomalies, including varying degrees of agenesis of the vertebral column, as…”
Get full text

Genetic Considerations for a Woman’s Annual Gynaecological Examination by Douglas Wilson, R., MD, Langlois, Sylvie, MD

“…Abstract Objective To provide the physician with an overview of common genetic conditions that should be considered during a women’s annual gynaecological…”
Get full text

Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies by Chitayat, David, MD, Langlois, Sylvie, MD, Douglas Wilson, R., MD, Audibert, François, MD, Blight, Claire, RN, Brock, Jo-Ann, MD, Cartier, Lola, MSc, CCGC, Carroll, June, MD, Désilets, Valerie A., MD, Gagnon, Alain, MD, Johnson, Jo-Ann, MD, Murphy-Kaulbeck, Lynn, MD, Okun, Nanette, MD, Pastuck, Melanie, RN, Senikas, Vyta, MD, DeBie, Isabelle, MD, Demczuk, Suzanne, PhD, Desilets, Valerie A., MD, Geraghty, Michael T, MD, Marcadier, Janet, MSc, Nelson, Tanya N., PhD, Skidmore, David, MD, Siu, Vicky, MD

“…Abstract Objective To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton…”
Get full text

Obstetrical Complications Associated With Abnormal Maternal Serum Markers Analytes by Gagnon, Alain, MD, Wilson, R. Douglas, MD, Audibert, François, MD, Allen, Victoria M., MD, Blight, Claire, RN, Brock, Jo-Ann, MD, Désilets, Valerie A., MD, Johnson, Jo-Ann, MD, Langlois, Sylvie, MD, Summers, Anne, MD, Douglas Wilson, R., MD, Wyatt, Philip, MD

“…Abstract Objective To review the obstetrical outcomes associated with abnormally elevated or decreased level of one or more of the most frequently measured…”
Get full text

Mid-Trimester Amniocentesis Fetal Loss Rate by Wilson, R. Douglas, MD, FRCSC, Langlois, Sylvie, MD, FRCPC, Johnson, Jo-Ann, MD, FRCSC, Wilson, R. Douglas, MD, Desilets, Valerie, MD, Audibert, François, MD, Gagnon, Alain, MD, Johnson, Jo-Ann, MD, Wyatt, Philip, MD, PhD, Allen, Victoria, MD, Langlois, Sylvie, MD, Blight, Claire, RN, Chitayat, David, MD, Farrell, Sandra A., MD, Nelson, Tanya, PhD, Nikkel, Sarah M., MD, Skidmore, David, MD

“…Abstract Objective To determine the postprocedure loss rate for mid-trimester genetic amniocentesis. Outcome Reduction of benign biopsy rates. Benefits To…”
Get full text

A fragile site at 10q23 (FRA10A) in a phenytoin-exposed fetus: a case report and review of the literature by Morel, Chantal F., Duncan, Alessandra M. V., Désilets, Valérie

“…Objective To report fragility at 10q23.3 in a fetus exposed to phenytoin during pregnancy. Review of the literature. Methods Amniocytes were cultured in A10…”
Get full text

Pre-conceptional Vitamin/Folic Acid Supplementation 2007: The Use of Folic Acid in Combination With a Multivitamin Supplement for the Prevention of Neural Tube Defects and Other Congenital Anomalies by Wilson, R. Douglas, MD, Wilson, R. Douglas, MD, MSC, Désilets, Valerie, MD, Wyatt, Philip, MD, PhD, Langlois, Sylvie, MD, Gagnon, Alain, MD, Allen, Victoria, MD, MSC, Blight, Claire, RN, Johnson, Jo-Ann, MD, Audibert, François, MD, Brock, Jo-Ann, MD, Koren, Gideon, MD, Goh, Ingrid, BSc, Nguyen, Patricia, BSc, HBSc, Kapur, Bhushan, PhD

“…Abstract Objective To provide information regarding the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube…”
Get full text