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1دورية أكاديمية
المؤلفون: Samuel Sassine, Amandine Remy, Tanguy Demaret, François Proulx, Julie Autmizguine, Fatima Kakkar, Thai Hoa Tran, Caroline Laverdière, Ellery T. Cunan, Catalina Maftei, Grant Mitchell, Hélène Decaluwe, Jade Hindié
المصدر: Children, Vol 11, Iss 8, p 990 (2024)
مصطلحات موضوعية: methylmalonic acidemia, pancytopenia, hyperleukocytosis, immune reconstitution inflammatory syndrome, cytomegalovirus, Pneumocystis jirovecii, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jade England, Guillaume Huguet, Khadijé Jizi, Cécile Poulain, Élise Douard, Zohra Saci, Catalina Maftei, Emmanuelle Lemyre, Sébastien Jacquemont
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101733- (2024)
وصف الملف: electronic resource
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المؤلفون: Aaron Spahr, E. Malvey-Dorn, S. Chandratre, F Pelletier, B. Osterman, M. Desmeules, G. Roedde, Marie Emmanuelle Dilenge, S. Chenier, Albert Larbrisseau, P. Marois, A Mirchi, Luan Tran, Elsa Rossignol, K. Y. Lim, Nancy Braverman, E. Dermer, Michael Shevell, J. Reggin, Mark A. Tarnopolsky, Guillaume Sébire, J. Laflamme, Kether Guerrero, Catalina Maftei, Geneviève Legault, Soad M. Ahmed, Sunita Venkateswaran, Daniela Pohl, Daniela Buhas, Philippe Major, I. Paradis, John J. Mitchell, Geneviève Bernard, M. Sullivan, Bernard Brais, Nicolas Chrestian, Myriam Srour, Michel Sylvain, EM Riou, A. Nadeau
المصدر: Journal of Child Neurology. 35:901-907
مصطلحات موضوعية: Adult, Male, Parents, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pilot Projects, Early death, 030105 genetics & heredity, White matter, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Leukoencephalopathies, Surveys and Questionnaires, Stress (linguistics), Humans, Medicine, Child, business.industry, Leukodystrophy, Infant, medicine.disease, Cross-Sectional Studies, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Parental stress, business, Stress, Psychological, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f960a9c3c06818684c86c6b2dd83c196
https://doi.org/10.1177/0883073820938645 -
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المؤلفون: Ian J. Deary, Elise Douard, Thomas Renne, Gunter Schumann, Thomas Bourgeron, W. David Hill, Sarah Lippé, Tomáš Paus, Frédérique Tihy, Khadije Jizi, Sarah E. Harris, Myriam Poirier, Nadine Younis, Catherine Schramm, Zdenka Pausova, Zohra Saci, Charles-Olivier Martin, Sébastien Jacquemont, Petra Tamer, Pauline Monin, Sherif Karama, Paul Redmond, Laura Almasy, Gail Davies, Jade England, Maude Auger, Celia M. T. Greenwood, Guillaume Huguet, David J. Porteous, Antoine Main, Géraldine Mathonnet, David C. Glahn, Sabrina Nowak, Emmanuelle Lemyre, Inga Sophia Knoth, Martineau Jean-Louis, Aurélie Labbe, Catalina Maftei
المساهمون: Université de Montréal (UdeM), CHU Sainte Justine [Montréal], Jewish General Hospital, HEC Montréal (HEC Montréal), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), University of Edinburgh, King‘s College London, Gènes, Synapses et Cognition (CNRS - UMR3571 ), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), The Hospital for sick children [Toronto] (SickKids), University of Toronto, McGill University = Université McGill [Montréal, Canada], Douglas Mental Health University Institute [Montréal], Children’s Hospital of Philadelphia (CHOP ), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Hartford Hospital, This research was enabled by support provided by Calcul Quebec and Compute Canada. SJ is a recipient of a Canada Research Chair in neurodevelopmental disorders, and a chair from the Jeanne et Jean Louis Levesque Foundation. CS is supported by an Institute for Data Valorization (IVADO) fellowship. PT is supported by a Canadian Institute of Health Research (CIHR) Scholarship Program. GH is supported by the Sainte-Justine Foundation, the Merit Scholarship Program for foreign students, and the Network of Applied Genetic Medicine fellowships. TB is a recipient of a chair of the Bettencourt-Schueler foundation. This work is supported by a grant from the Brain Canada Multi-Investigator initiative and CIHR grant 159734 (SJ, CMTG, TP). The Canadian Institutes of Health Research and the Heart and Stroke Foundation of Canada fund the Saguenay Youth Study (SYS). SYS was funded by the Canadian Institutes of Health Research (TP, ZP) and the Heart and Stroke Foundation of Canada (ZP). Funding for the project was provided by the Wellcome Trust. This work was also supported by an NIH award U01 MH119690 granted to LA, SJ, and DG and U01 MH119739., Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2021, ⟨10.1038/s41380-020-00985-z⟩
Mol Psychiatry
Huguet, G, Schramm, C, Douard, E, Tamer, P, Main, A, Monin, P, England, J, Jizi, K, Renné, T, Poirier, M, Nowak, S, Martin, C-O, Younis, N, Knoth, I S, Jean-louis, M, Saci, Z, Auger, M, Tihy, F, Mathonnet, G, Maftei, C, Léveillé, F, Porteous, D J, Davies, G, Redmond, P, Harris, S, Hill, W D, Lemyre, E, Schumann, G, Bourgeron, T, Pausova, Z, Paus, T, Karama, S, Lippe, S, Deary, I, Almasy, L, Labbe, A, Glahn, D C, M.T Greenwood, C & Jacquemont, S 2021, ' Genome wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability ', Molecular Psychiatry . https://doi.org/10.1038/s41380-020-00985-z
Molecular Psychiatry, 2021, ⟨10.1038/s41380-020-00985-z⟩مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Gene Dosage, Biology, Gene dosage, Genome, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cognition, 0302 clinical medicine, medicine, Humans, genetics, Copy-number variation, Molecular Biology, Gene, Intelligence Tests, Genetics, Intelligence quotient, [SCCO.NEUR]Cognitive science/Neuroscience, Inheritance (genetic algorithm), medicine.disease, Psychiatry and Mental health, psychiatric disorders, 030104 developmental biology, Autism, Haploinsufficiency, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Guillaume Huguet, Catherine Schramm, Elise Douard, Tamer Petra, Antoine Main, Pauline Monin, Jade England, Khadije Jizi, Thomas Renne, Myriam Poirier, Sabrina Nowak, Charles-Olivier Martin, Nadine Younis, Inga Sophia Knoth, Martineau Jean-Louis, Zohra Saci, Maude Auger, Frédérique Tihy, Géraldine Mathonnet, Catalina Maftei, France Léveillé, David Porteous, Gail Davies, Paul Redmond, Sarah E. Harris, W. David Hill, Emmanuelle Lemyre, Gunter Schumann, Thomas Bourgeron, Zdenka Pausova, Tomas Paus, Sherif Karama, Sarah Lippe, Ian J. Deary, Laura Almasy, Aurélie Labbe, David Glahn, Celia M.T. Greenwood, Sébastien Jacquemont
مصطلحات موضوعية: Genetics, Regulation of gene expression, 0303 health sciences, Inheritance (genetic algorithm), Biology, medicine.disease, Gene dosage, Genome, 03 medical and health sciences, 0302 clinical medicine, medicine, Autism, Copy-number variation, Haploinsufficiency, Gene, 030217 neurology & neurosurgery, 030304 developmental biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9d6fa59e2d59de11e995f6b60e232585
https://doi.org/10.1101/2020.04.03.024554 -
6When you are Told That Your Fetus or Newborn has an Endocrine Condition: Perspectives of the Parents
المؤلفون: Cheri Deal, Catalina Maftei
مصطلحات موضوعية: medicine.medical_specialty, Fetus, Obstetrics, business.industry, medicine, Endocrine system, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fdf96eeb2c560fa5ec63c427b3ff8cf3
https://doi.org/10.1016/b978-0-12-814823-5.09983-9 -
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المؤلفون: Guylaine D’Amours, Anne-Marie Laberge, Catalina Maftei, Audrey Meleu, Jacques L. Michaud, Julie Gauthier, Jean-François Soucy, Fadi F. Hamdan
المصدر: Molecular Genetics and Metabolism. 132:S102
مصطلحات موضوعية: Whole genome sequencing, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Intensive care, Yield (finance), Genetics, Biology, business, Molecular Biology, Biochemistry, Biotechnology
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المؤلفون: Philippe Major, Inge A. Meijer, Grant A. Mitchell, Catalina Maftei, Florin Sasarman, Catherine Brunel-Guitton, Elsa Rossignol, Michel Vanasse
المصدر: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 85-88 (2015)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: medicine.medical_specialty, Case Report, Biology, medicine.disease_cause, Rhabdomyolysis, Frameshift mutation, Exon, Endocrinology, Internal medicine, Genetics, medicine, PA, phosphatidic acid, Creatine kinase, lcsh:QH301-705.5, Molecular Biology, Dexamethasone, UPD, uniparental disomy, lcsh:R5-920, Mutation, aCGH, array comparative genomic hybridization, Lipin-1, Uniparental disomy, Chromosome 2, medicine.disease, Treatment, lcsh:Biology (General), Uniparental Isodisomy, biology.protein, lcsh:Medicine (General), DAG, diacylglycerol, LPIN1, CK, creatine kinase, medicine.drug
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المؤلفون: Nicholas Katsanis, Rachel Laframboise, Myriam Srour, Catherine Fallet-Bianco, Erica E. Davis, Alexandre Dionne-Laporte, Anne-Marie Laberge, Guy A. Rouleau, Emmanuelle Lemyre, Luis H. Ospina, Brissa Martin, Mary K. Kukolich, Lysanne Patry, Bruno Maranda, Kym M. Boycott, Dorith Goldsher, Christine Massicotte, F. Rypens, Stavit A. Shalev, Jeremy Schwartzentruber, Fadi F. Hamdan, Orly Elpeleg, Renee-Myriam Boucher, Dianalee McKnight, Damian Labuda, Jacek Majewski, Jean-François Soucy, Hanna Mandel, Jean-Claude Décarie, Catalina Maftei, Christina Nassif, Jacques L. Michaud, Bernard Brais
المصدر: The American Journal of Human Genetics. 97:744-753
مصطلحات موضوعية: Adult, Male, Canada, Adolescent, Nonsense mutation, Population, Biology, Retina, Joubert syndrome, Frameshift mutation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Report, Cerebellum, Ciliogenesis, Genetics, medicine, Humans, Abnormalities, Multiple, Exome, Genetics(clinical), Cilia, Eye Abnormalities, Child, education, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Homozygote, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Kidney Diseases, Cystic, Prognosis, medicine.disease, Pedigree, Ciliopathy, Child, Preschool, Mutation, Female, Allelic heterogeneity, Microtubule-Associated Proteins, 030217 neurology & neurosurgery, Follow-Up Studies
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المؤلفون: Benjamin Ellazam, Hana Antonicka, Alexandre Janer, Orly Elpeleg, Neil Webb, Grant A. Mitchell, Catherine Brunel-Guitton, Steven Salomon, Florin Sasarman, Eric A. Shoubridge, Catalina Maftei, Isabelle Thiffault, Woranontee Weraarpachai, Julie Gauthier
المصدر: Human Molecular Genetics. 24:2841-2847
مصطلحات موضوعية: Male, Mitochondrial Diseases, Mitochondrial translation, Mitochondrion, Biology, Sideroblastic anemia, Genetics, medicine, Protein biosynthesis, Humans, Exome, Child, Molecular Biology, RNA, Transfer, Ser, Genetics (clinical), Infant, Newborn, Infant, RNA, RNA Nucleotidyltransferases, Translation (biology), Sequence Analysis, DNA, Syndrome, Articles, General Medicine, medicine.disease, Molecular biology, Hypotonia, Mitochondria, Child, Preschool, Protein Biosynthesis, Mutation, Transfer RNA, Female, medicine.symptom
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07e6598e6da73355e8c06c36451d886
https://doi.org/10.1093/hmg/ddv044