المؤلفون: Valérie Larouche, Marie-Frédérique Paré, Pierre-Olivier Grenier, Anna Wieckowska, Eric Gagné, Rachel Laframboise, Nada Jabado, Isabelle De Bie

المصدر: Current Oncology, Vol 30, Iss 10, Pp 8992-9003 (2023)

مصطلحات موضوعية: congenital mastocytosis, KIT alteration, CNS tumor, hearing loss, microtia, tyrosine kinase inhibitor, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1718-7729/30/10/649; https://doaj.org/toc/1198-0052; https://doaj.org/toc/1718-7729

URL الوصول: https://doaj.org/article/7a85a845c31941a29b56dc5072539f4b

المؤلفون: Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell

المصدر: Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 55-58 (2018)

مصطلحات موضوعية: Tyrosinemia, Hypersuccinylacetonemia, Fah, Fumarylacetoacetate hydrolase, Nitisinone, Pseudodeficiency, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917301635; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/95486fd6a0e04bf1be78ba0866a34b6f

المؤلفون: Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Rachel Laframboise, Jean-François Soucy, Denis Cyr, Grant A. Mitchell, Hao Yang, Francis Rossignol, Shu Pei Wang

المصدر: Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 55-58 (2018)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: medicine.medical_specialty, Maleylacetoacetate isomerase, Nitisinone, Compound heterozygosity, Asymptomatic, Tyrosinemia, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, Medicine, Pseudodeficiency, 030212 general & internal medicine, Allele, lcsh:QH301-705.5, Molecular Biology, Fah, Fumarylacetoacetate hydrolase, lcsh:R5-920, business.industry, medicine.disease, lcsh:Biology (General), Pseudodeficiency alleles, medicine.symptom, lcsh:Medicine (General), business, Hypersuccinylacetonemia, 030217 neurology & neurosurgery, Research Paper, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44669ac539c818d7481cfd5651fb525c
https://doi.org/10.1016/j.ymgmr.2017.12.002

المؤلفون: Soma Das, Jennifer A. Lee, Amy K. Johnson, Jennifer Burton, Sandra Tremblay, Ying Ying Hu, Daniela del Gaudio, Kirsten Donato, Daniel B. Magner, Zejuan Li, Sarah E. Noon, Ian D. Krantz, Rachel Laframboise, Brett Deml, Jacea Deml, George E. Hoganson, Christian P. Schaaf, Maria Helgeson, Jennifer Keller-Ramey

المصدر: Journal of Human Genetics. 63:349-356

مصطلحات موضوعية: 0301 basic medicine, Cornelia de Lange Syndrome, DNA Copy Number Variations, Cohesin complex, Copy number analysis, SMC1A, Biology, Histone Deacetylases, Chromosome Breakpoints, 03 medical and health sciences, Germline mutation, X Chromosome Inactivation, De Lange Syndrome, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Child, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Comparative Genomic Hybridization, Base Sequence, Facies, NIPBL, Exons, Sequence Analysis, DNA, medicine.disease, Repressor Proteins, Phenotype, 030104 developmental biology, Child, Preschool, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7987cd68c6efe8bfa8eb3f74b5d1342d
https://doi.org/10.1038/s10038-017-0387-6

المؤلفون: Marie-Julie Blouin, Marc-Antoine Poulin, Rachel Laframboise

المصدر: International journal of pediatric otorhinolaryngology. 122

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, education, Laryngeal web, Disease, Epiglottis, Bardet–Biedl syndrome, otorhinolaryngologic diseases, medicine, Humans, Bardet-Biedl Syndrome, business.industry, Dystrophy, Infant, General Medicine, medicine.disease, Dermatology, Dysphagia, Ciliopathy, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, medicine.symptom, Respiratory System Abnormalities, Airway, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d332a8a26c33e25ff686a929500086b
https://pubmed.ncbi.nlm.nih.gov/31022684

المؤلفون: Bruno Maranda, Christiane Auray-Blais, Alina Levtova, Paula J. Waters, Nancy Braverman, Rachel Laframboise, Sébastien Lévesque, Catherine Brunel-Guitton, Joe T.R. Clarke, Grant A. Mitchell, Daniela Buhas

المصدر: Journal of inherited metabolic disease. 42(1)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Methylmalonic acid, Urine, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Neonatal Screening, Coenzyme A Ligases, Genetics, Medicine, Humans, Clinical significance, Child, Genetics (clinical), Alleles, Retrospective Studies, Newborn screening, Creatinine, business.industry, Infant, Newborn, Infant, Malonates, 030104 developmental biology, Cross-Sectional Studies, chemistry, Methylmalonic aciduria, Child, Preschool, Cohort, Mutation, Female, business, 030217 neurology & neurosurgery, Natural history study, Metabolism, Inborn Errors, Methylmalonic Acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0c0f273daabceb36eff61b2754680fa
https://pubmed.ncbi.nlm.nih.gov/30740739

المؤلفون: Carol Durno, Adam Shlien, Michael J. Sullivan, Michael Osborn, Vijay Ramaswamy, Vanan Magimairajan, Zane Cohen, Cynthia Hawkins, Brittany Campbell, Scott Lindhorst, Lindsay L. Peterson, Melyssa Aronson, Michael D. Taylor, Eric Bouffet, Ronit Elhasid, Gary Mason, Valérie Larouche, Uri Tabori, Daniele Merico, Roula Farah, Samina Afzal, Shlomi Constantini, Jeffrey Atkinson, Steffen Albrecht, Nancy Klauber-DeMore, Nataliya Zhukova, Nada Jabado, David Malkin, Richard de Borja, Vanja Cabric, Joerg Krueger, Jordan R. Hansford, Rina Dvir, Peter B. Dirks, Sunil J. Patel, Alyssa Reddy, Michal Yalon, Andrew Dodgshun, Roy W. R. Dudley, Michael Walsh, Rachel Laframboise, Gideon Rechavi

المصدر: Journal of Clinical Oncology. 34:2206-2211

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Cancer Research, medicine.medical_treatment, Programmed Cell Death 1 Receptor, medicine.disease_cause, Germline, 03 medical and health sciences, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, medicine, Humans, Child, Exome sequencing, Mutation, Temozolomide, Brain Neoplasms, business.industry, Melanoma, Antibodies, Monoclonal, Immunotherapy, medicine.disease, Magnetic Resonance Imaging, Immune checkpoint, Nivolumab, 030104 developmental biology, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Immunology, Cancer research, Female, Colorectal Neoplasms, Glioblastoma, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb38fb8cdcf764451f94f631aec16325
https://doi.org/10.1200/jco.2016.66.6552

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da2c33136a3c12d0f278dc35e51feb52
https://doi.org/10.1016/j.ajhg.2015.09.009

المؤلفون: Valerie Larouche, Jeffrey Atkinson, Nada Jabado, Eric Bouffet, Uri Tabori, Rachel Laframboise, Steffen Albrecht

المصدر: Pediatric bloodcancer. 65(12)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, medicine.medical_specialty, Immune checkpoint inhibitors, 03 medical and health sciences, 0302 clinical medicine, Neoplasm Recurrence, Antineoplastic Agents, Immunological, Neoplastic Syndromes, Hereditary, Internal medicine, medicine, Humans, Complete response, business.industry, Brain Neoplasms, Recurrent glioblastoma, Hematology, Ipilimumab, 030104 developmental biology, Nivolumab, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, MISMATCH REPAIR DEFICIENCY, Neoplasm Recurrence, Local, business, Colorectal Neoplasms, Glioblastoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f5d3d003b3b7f49e9577d3669ff915d
https://pubmed.ncbi.nlm.nih.gov/30160041

المؤلفون: Mathieu Trudel, Jacques E. Leclerc, Rachel Laframboise

المصدر: International journal of pediatric otorhinolaryngology. 104

مصطلحات موضوعية: 0301 basic medicine, Velopharyngeal Insufficiency, Nasal regurgitation, Trisomy, 030105 genetics & heredity, 03 medical and health sciences, Chromosome 19, Rare case, Chromosome Duplication, Medicine, Humans, Family, Family history, Child, Partial Trisomy, business.industry, Chromosome, General Medicine, Anatomy, Dna rearrangements, Pedigree, Cleft Palate, 030104 developmental biology, Phenotype, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Female, Velopharyngeal dysfunction, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f0f6a02986f510daab87c65e1f02609
https://pubmed.ncbi.nlm.nih.gov/29287853