Výsledky vyhledávání - Thiffault, Isabelle

Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome Autor Mettman, Daniel, Thiffault, Isabelle, Dinakar, Chitra, Saunders, Carol

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Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults Autor Michell-Robinson, Mackenzie A., Perrier, Stefanie, Lucia, Cassandra, Tran, Luan T., Thiffault, Isabelle, Köhler, Wolfgang, Bernard, Geneviève

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Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications and neurodegeneration Autor Macintosh, Julia, Derksen, Alexa, Poulin, Chantal, Braverman, Nancy, Vanderver, Adeline, Thiffault, Isabelle, Albrecht, Steffen, Bernard, Geneviève

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Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing Autor Thiffault, Isabelle, Atherton, Andrea, Heese, Bryce A., T. Abdelmoity, Ahmed, Pawar, Kailash, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Saunders, Carol

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Clinical genome sequencing in an unbiased pediatric cohort Autor Thiffault, Isabelle, Farrow, Emily, Zellmer, Lee, Berrios, Courtney, Miller, Neil, Gibson, Margaret, Caylor, Raymond, Jenkins, Janda, Faller, Deb, Soden, Sarah, Saunders, Carol

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Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease Autor Thiffault, Isabelle, Zuccarelli, Britton, Welsh, Holly, Yuan, Xuan, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Abdelmoity, Ahmed, Brodsky, Robert A., Saunders, Carol

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Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report Autor Cadieux-Dion, Maxime, Safina, Nicole P., Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle

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CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria Autor Saunders, Carol, Smith, Laurie, Wibrand, Flemming, Ravn, Kirstine, Bross, Peter, Thiffault, Isabelle, Christensen, Mette, Atherton, Andrea, Farrow, Emily, Miller, Neil, Kingsmore, Stephen F., Ostergaard, Elsebet

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Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy Autor Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á., Tran, Luan T., Benko, William, van der Knaap, Marjo S., van Spaendonk, Rosalina M. L., Wolf, Nicole I., Bernard, Geneviève

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Carriers of Recessive WNK1/HSN2 Mutations for Hereditary Sensory and Autonomic Neuropathy Type 2 (HSAN2) Are More Sensitive to Thermal Stimuli Autor Loggia, Marco L., Bushnell, M. Catherine, Tétreault, Martine, Thiffault, Isabelle, Bhérer, Claude, Mohammed, Nazma K., Kuchinad, Anil A., Laferrière, Audrey, Dicaire, Marie-Josée, Loisel, Lina, Mogil, Jeffrey S., Brais, Bernard

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Tremor–ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3–10q23.31 Autor Bernard, Geneviève, Thiffault, Isabelle, Tetreault, Martine, Putorti, Maria Lisa, Bouchard, Isabelle, Sylvain, Michel, Melançon, Serge, Laframboise, Rachel, Langevin, Pierre, Bouchard, Jean-Pierre, Vanasse, Michel, Vanderver, Adeline, Sébire, Guillaume, Brais, Bernard

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The 3′ addition of CCA to mitochondrial tRNA(Ser(AGY)) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1 Autor Sasarman, Florin, Thiffault, Isabelle, Weraarpachai, Woranontee, Salomon, Steven, Maftei, Catalina, Gauthier, Julie, Ellazam, Benjamin, Webb, Neil, Antonicka, Hana, Janer, Alexandre, Brunel-Guitton, Catherine, Elpeleg, Orly, Mitchell, Grant, Shoubridge, Eric A.

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Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing Autor Gallo, Vera, Dotta, Laura, Giardino, Giuliana, Cirillo, Emilia, Lougaris, Vassilios, D’Assante, Roberta, Prandini, Alberto, Consolini, Rita, Farrow, Emily G., Thiffault, Isabelle, Saunders, Carol J., Leonardi, Antonio, Plebani, Alessandro, Badolato, Raffaele, Pignata, Claudio

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Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype Autor Job, Florian, Mizumoto, Shuji, Smith, Laurie, Couser, Natario, Brazil, Ashley, Saal, Howard, Patterson, Melanie, Gibson, Margaret I., Soden, Sarah, Miller, Neil, Thiffault, Isabelle, Saunders, Carol, Yamada, Shuhei, Hoffmann, Katrin, Sugahara, Kazuyuki, Farrow, Emily

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Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection Autor Thiffault, Isabelle, Farrow, Emily, Cohen, Ana, Zion, Tricia, Neal, Shelby, Cheung, Warren, Johnston, Jeffrey, Miller, Neil, Gibson, Margaret, Walter, Adam, Puckett, Laura, Posey, Nyshele, Nair, Annapoorna, McDonald, Brittany, Elfrink, Mary, Herd, Suzanne, Pastinen, Tomi

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Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A(2)γ recapitulate the mitochondriopathy of the homologous null mouse Autor Saunders, Carol J., Moon, Sung Ho, Liu, Xinping, Thiffault, Isabelle, Coffman, Keith, LePichon, Jean-Baptiste, Taboada, Eugenio, Smith, Laurie D., Farrow, Emily G., Miller, Neil, Gibson, Margaret, Patterson, Melanie, Kingsmore, Stephen F., Gross, Richard W.

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A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome Autor Gauthier, Julie, Ouled Amar Bencheikh, Bouchra, Hamdan, Fadi F, Harrison, Steven M, Baker, Linda A, Couture, Françoise, Thiffault, Isabelle, Ouazzani, Reda, Samuels, Mark E, Mitchell, Grant A, Rouleau, Guy A, Michaud, Jacques L, Soucy, Jean- François

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POLR3A variants in hereditary spastic paraplegia and ataxia Autor Gauquelin, Laurence, Tétreault, Martine, Thiffault, Isabelle, Farrow, Emily, Miller, Neil, Yoo, Byunggil, Bareke, Eric, Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Tarnopolsky, Mark, Brais, Bernard, Wolf, Nicole I, Majewski, Jacek, Rouleau, Guy A, Gan-Or, Ziv, Bernard, Geneviève

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Clinical detection of deletion structural variants in whole-genome sequences Autor Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F

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Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy Autor Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W

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