Search Results - "Oligny, Luc L"

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis by Boissel, Sarah, Fallet-Bianco, Catherine, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, Françoise, Delrue, Marie-Ange, Dal Soglio, Dorothée, Oligny, Luc L., Patey, Natalie, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, Philippe, Karalis, Aspasia, Nizard, Sonia, Fraser, William D., Audibert, François, Lemyre, Emmanuelle, Rouleau, Guy A., Hamdan, Fadi F., Kibar, Zoha, Michaud, Jacques L.

“…Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the…”
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High level of apoptosis and low AKT activation in mass screening as opposed to standard neuroblastoma by Sartelet, Hervé, Ohta, Shigeru, Barrette, Stephane, Rougemont, Anne-Laure, Brevet, Marie, Regairaz, Marie, Harvey, Isabelle, Bernard, Chantal, Fabre, Monique, Gaboury, Louis, Oligny, Luc L, Bosq, Jacques, Valteau-Couanet, Dominique, Vassal, Gilles

“…Sartelet H, Ohta S, Barrette S, Rougemont A‐Laure, Brevet M, Regairaz M, Harvey I, Bernard C, Fabre M, Gaboury L, Oligny L L, Bosq J, Valteau‐Couanet D &…”
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Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype by Szafranski, Przemyslaw, Liu, Qian, Karolak, Justyna A., Song, Xiaofei, de Leeuw, Nicole, Faas, Brigitte, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Gibbs, Kathleen A., Surrey, Lea F., Poisson, Virginie, Bérubé, Denis, Oligny, Luc L., Michaud, Jacques L., Popek, Edwina, Stankiewicz, Paweł

“…Haploinsufficiency of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder…”
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Workload Measurement in Subspecialty Placental Pathology in Canada by Wright, James R., Chan, Suzanne, Morgen, Eric K., Maung, Raymond T. A., Brundler, Marie-Anne, El Demellawy, Dina, Fraser, Robert B., Kurek, Kyle C., Magee, Fergall, Nizalik, Elizabeth, Oligny, Luc L., Somers, Gino R., Stefanovici, Camelia, Terry, Jefferson

“…Background Workload measurement is important to help determine optimal staffing and workload distribution for pathology laboratories. The Level 4 Equivalent…”
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Cardiac pathology in sudden unexpected infant death by Dancea, Adrian, Côté, Aurore, Rohlicek, Charles, Bernard, Chantal, Oligny, Luc L.

“…Objectives: To determine the spectrum of cardiac pathology and circumstances of death in infants with sudden unexpected death and to define the impact of…”
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Assessment of correlation between p16INK4a staining, specific subtype of human papillomavirus, and progression of LSIL/CIN1 lesions: first comparative study by Razmpoosh, Maryam, Sansregret, Andrée, Oligny, Luc L, Patey, Natalie, Dormoy-Raclet, Virginie, Ducruet, Thierry, Bouron-Dal Soglio, Dorothée

“…To study and compare the effectiveness of p16(INK4a) staining and specific human papillomavirus (HPV) subtypes as a prognostic marker in cervical…”
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Lethal Respiratory Failure and Mild Primary Hypothyroidism in a Term Girl with a de Novo Heterozygous Mutation in the TITF1/NKX2.1 Gene by Maquet, Emilie, Costagliola, Sabine, Parma, Jasmine, Christophe-Hobertus, Christiane, Oligny, Luc L., Fournet, Jean-Christophe, Robitaille, Yves, Vuissoz, Jean-Marc, Payot, Antoine, Laberge, Sophie, Vassart, Gilbert, Van Vliet, Guy, Deladoëy, Johnny

“…Context: Thyroid transcription factor 1 (TITF1/NKX2.1) is expressed in the thyroid, lung, ventral forebrain, and pituitary. In the lung, TITF1/NKX2.1 activates…”
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Genomic Study of Severe Fetal Anomalies and Discovery of GREB1L Mutations in Renal Agenesis by Boissel, Sarah, Fallet-Bianco, Catherine, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, Françoise, Delrue, Marie-Ange, Soglio, Dorothée Dal, Oligny, Luc L, Patey, Natalie, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, Philippe, Karalis, Aspasia, Nizard, Sonia, Fraser, William D, Audibert, François, Lemyre, Emmanuelle, Rouleau, Guy A, Hamdan, Fadi F, Kibar, Zoha, Michaud, Jacques L

“…(Abstracted from Genet Med 2018;20(7):745–753)Birth defects are a leading cause of mortality and mortality in infants and children. The etiology of birth…”
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Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13 by Nardi, Nicolas, Proulx, François, Brunel-Guiton, Catherine, Oligny, Luc L., Piché, Nelson, Mitchell, Grant A., Joyal, Jean Sébastien

“…Abstract Necrotizing enterocolitis (NEC) is exceptional after the neonatal period. A toddler with encephalopathy, mitochondrial myopathy, and hypertrophic…”
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Pediatric Anogenital Warts: A 7-Year Review of Children Referred to a Tertiary-Care Hospital in Montreal, Canada by Marcoux, Danielle, Nadeau, Karine, McCuaig, Catherine, Powell, Julie, Oligny, Luc L.

“…:  The objectives of this study were to delineate the clinical characteristics of a hospital‐referred pediatric population infected with anogenital warts and…”
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Intrauterine growth restriction in rats is associated with hypertension and renal dysfunction in adulthood by Battista, Marie-Claude, Oligny, Luc L, St-Louis, Jean, Brochu, Michèle

“…Epidemiological studies have produced evidence that unfavorable intrauterine environments during fetal life may lead to adverse outcomes in adulthood. We have…”
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Sudden death in growth hormone–treated children with Prader-Willi syndrome by Vliet, Guy Van, Deal, Cheri L., Crock, Patricia A., Robitaille, Yves, Oligny, Luc L.

“…A 4-year-old boy with Prader-Willi syndrome died suddenly while asleep on day 67 of growth hormone treatment. During treatment, snoring had worsened. Autopsy…”
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Searching for an intrinsic neuroendocrine cell in the kidney by Guy, Laurent, R. Bégin, Louis, L. Oligny, Luc, B. Brock, Gerald, Chevalier, Simone, G. Aprikian, Armen

“…The pathogenesis of primary renal carcinoid tumor is unknown. One hypothesis has implied derivation from a yet unrecognized intrinsic neuroendocrine cell in…”
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A two-tier polymerase chain reaction direct sequencing method for detecting and typing human papillomaviruses in pathological specimens by Feoli-Fonseca, J C, Oligny, L L, Filion, M, Brochu, P, Simard, P, Russo, P A, Yotov, W V

“…An in-house polymerase chain reaction direct sequencing (PCR-DS) approach for HPV detection and typing was developed, taking advantage of two widely used pairs…”
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Accessory Liver Lobe with Mesothelial Inclusion Cysts in an Omphalocele: A New Malformative Association by Rougemont, Anne-Laure, Sartelet, Hervé, Oligny, Luc L., Bensoussan, Arie, Yazbeck, Salam, Fournet, Jean-Christophe

“…Mesothelial inclusion cysts represent benign lesions that have been reported in a wide variety of locations. Peritoneal cysts are observed and visceral…”
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Unilobar congenital pulmonary lymphangiectasis mimicking congenital lobar emphysema: an underestimated presentation? by Chapdelaine, Joyaube, Beaunoyer, Mona, St-Vil, Dickens, Oligny, Luc L., Garel, Laurent, Bütter, Andreana, Di Lorenzo, Maria

“…Congenital lobar emphysema (CLE) is characterized by unilobar alveolar distension secondary to bronchomalacia or absent cartilage. In contrast, congenital…”
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Intrahepatic Biliary Cysts Presenting before Hepatic Portoenterostomy in Biliary Atresia by Mas, Emmanuel, Alvarez, Fernando, Oligny, Luc L., Martin, Steven

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Hyperfunctioning malignant thyroid nodule in an 11-year-old girl: Pathologic and molecular studies by Mircescu, Hortensia, Parma, Jasmine, Huot, Céline, Deal, Cheri, Oligny, Luc L., Vassart, Gilbert, Van Vliet, Guy

“…We identified a papillary carcinoma in an 11-year-old girl with a hyperfunctioning thyroid nodule. A met453thr mutation in TSHR was found in the nodule but not…”
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Basal cells of second trimester fetal breasts: immunohistochemical study of myoepithelial precursors by Jolicoeur, Francine, Gaboury, Louis A, Oligny, Luc L

“…The molecular characterization of human mammary myoepithelial cells is incomplete, hindering our understanding of its importance in breast physiology and…”
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An Association of Pleuropulmonary Blastoma and Cystic Nephroma: Possible Genetic Association by Soglio, Dorothée Bouron-Dal, Harvey, Isabelle, Yazbeck, Salam, Rypens, Françoise, Oligny, Luc L., Fournet, Jean-Christophe

“…The association of pleuropulmonary blastoma and cystic nephroma is an uncommon entity, with only 4 cases of such an association in the same patient described…”
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