Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Serge Gravel"'
Autor:
Paula J. Waters, Baiba Lace, Daniela Buhas, Serge Gravel, Denis Cyr, Renée‐Myriam Boucher, Geneviève Bernard, Sébastien Lévesque, Bruno Maranda
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2‐methyl‐3‐hydroxybutyryl‐CoA dehydrogenase (MHBD), is a rare X‐linked disorder of a moonlighting protein encoded by the HSD17B10. The diagno
Externí odkaz:
https://doaj.org/article/ac835807769b40c2821017a38e15b6ad
Publikováno v:
Microbial Cell, Vol 2, Iss 10, Pp 394-405 (2015)
In budding yeast, telomerase and the Cdc13p protein are two key players acting to ensure telomere stability. In the absence of telomerase, cells eventually enter a growth arrest which only few can overcome via a conserved process; such cells are call
Externí odkaz:
https://doaj.org/article/ee983e7de9ac41b29d85f956e75ab424
Autor:
Bojana Rakic, Serge Gravel, Elaine Gravel, Jorge Ganopolsky, Sébastien Lévesque, Fanny Thuriot, Paula J. Waters, Katherine Hodson
Publikováno v:
Journal of Clinical Medicine; Volume 10; Issue 17; Pages: 3868
Journal of Clinical Medicine, Vol 10, Iss 3868, p 3868 (2021)
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 10, Iss 3868, p 3868 (2021)
Journal of Clinical Medicine
Measurement of alpha-glucosidase activity on dried blood spots has been the main method to screen for Pompe disease, but a paradigm shift has been observed in recent years with the incorporation of gene panels and exome sequencing in molecular diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbb0e6654227acd079b7c62e37ac57b1
Autor:
Britta Seebauer, Johnny Deladoëy, Xavier De Deken, Gabrielle Dufort, Gabor Szinnai, Karl Heinimann, Dardye Eugene, Sébastien Lévesque, Stéphanie Larrivée-Vanier, Guy Van Vliet, Serge Gravel
Publikováno v:
Thyroid
Six patients are described with bi-allelic DUOX2 variants and widely variable phenotypes. Patient 1 is an infant with a compressive hypothyroid goiter causing respiratory distress, which was promptly alleviated by levothyroxine (LT4). He was a compou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c41912ad81e5a1cd98c83a2990f2bea8
https://doi.org/10.1089/thy.2018.0461
https://doi.org/10.1089/thy.2018.0461
Autor:
Paula J. Waters, Fanny Thuriot, Serge Gravel, David Watkins, Joe T. R. Clarke, Sébastien Lévesque, David S. Rosenblatt
Publikováno v:
Molecular Genetics and Metabolism Reports
Methylmalonyl-coA epimerase (MCE) follows propionyl-coA carboxylase and precedes methylmalonyl-coA mutase in the pathway converting propionyl-coA to succinyl-coA. MCE deficiency has previously been described in six patients, one presenting with metab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::008c444e974f6c956017a7ca4aba3c5b
https://doi.org/10.1016/j.ymgmr.2016.09.001
https://doi.org/10.1016/j.ymgmr.2016.09.001
Autor:
Serge Gravel, Renee-Myriam Boucher, Bruno Maranda, Geneviève Bernard, Baiba Lace, Sébastien Lévesque, Daniela Buhas, Paula J. Waters, Denis Cyr
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Background HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2‐methyl‐3‐hydroxybutyryl‐CoA dehydrogenase (MHBD), is a rare X‐linked disorder of a moonlighting protein encoded by the HSD17B10. The diagnosis is us
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::735ab40d5c44bc364a3438692aee7812
http://europepmc.org/articles/PMC6900358
http://europepmc.org/articles/PMC6900358
Autor:
Gabrielle, Dufort, Stéphanie, Larrivée-Vanier, Dardye, Eugène, Xavier, De Deken, Britta, Seebauer, Karl, Heinimann, Sébastien, Lévesque, Serge, Gravel, Gabor, Szinnai, Guy, Van Vliet, Johnny, Deladoëy
Publikováno v:
Thyroid : official journal of the American Thyroid Association. 29(7)
Six patients are described with bi-allelic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3be91b382cd05903c97622ff8e2641fd
https://pubmed.ncbi.nlm.nih.gov/31532729
https://pubmed.ncbi.nlm.nih.gov/31532729
Autor:
Serge Gravel, Elaine Gravel, Pierre-Étienne Jacques, Paula J. Waters, Marianne Doyon, Sandrine Larue, Caroline Buote, Lydia Marcoux, Sébastien Chénier, Amelie Nadeau, Sébastien Lévesque, Fanny Thuriot, Elvy Lapointe
Publikováno v:
Neurology Genetics. 6:e408
ObjectiveTo evaluate the diagnostic yield of an 89-gene panel in a large cohort of patients with suspected muscle disorders and to compare the diagnostic yield of gene panel and exome sequencing approaches.MethodsWe tested 1,236 patients from outpati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d4b87900f2676f6868ff53c87d24171
https://doi.org/10.1212/nxg.0000000000000408
https://doi.org/10.1212/nxg.0000000000000408
Publikováno v:
Microbial Cell, Vol 2, Iss 10, Pp 394-405 (2015)
Microbial Cell
Microbial Cell
In budding yeast, telomerase and the Cdc13p protein are two key players acting to ensure telomere stability. In the absence of telomerase, cells eventually enter a growth arrest which only few can overcome via a conserved process; such cells are call
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::242054c1a926b2e8280ed5b799a2609b
http://microbialcell.com/researcharticles/dna-damage-checkpoint-adaptation-genes-are-required-for-division-of-cells-harbouring-eroded-telomeres/
http://microbialcell.com/researcharticles/dna-damage-checkpoint-adaptation-genes-are-required-for-division-of-cells-harbouring-eroded-telomeres/
Autor:
Yannis Trakadis, Walla Al-Hertani, Christiane Auray-Blais, Paula J. Waters, Serge Gravel, Annette Feigenbaum, Michael T. Geraghty, Catherine Brunel-Guitton, Patrick Bherer, Thomas M. Kitzler, Komudi Siriwardena, Nathan McIntosh, Osama Y. Al-Dirbashi
Publikováno v:
JIMD Reports ISBN: 9783662575765
Glutaric aciduria type 3 (GA3) is associated with decreased conversion of free glutaric acid to glutaryl-coA, reflecting deficiency of succinate-hydroxymethylglutarate coA-transferase, caused by variants in the SUGCT (C7orf10) gene. GA3 remains less
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c904e75e8fb0d2a6ac730bd3f0a87eb1
https://pubmed.ncbi.nlm.nih.gov/28766179
https://pubmed.ncbi.nlm.nih.gov/28766179