Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Disease and OTC[original query] |
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| Is the ornithine transcarbamylase gene a genetic determinant of Alzheimer's disease? Neuroscience letters 2009 Jan 449 (1): 76-80. Hansmannel Franck, Lendon Corinne, Pasquier Florence, Dumont Julie, Hannequin Didier, Chapuis Julien, Laumet Geoffroy, Ayral Anne-Marie, Galimberti Daniela, Scarpini Elio, Campion Dominique, Amouyel Philippe, Lambert Jean-Charl |
| Association of ornithine transcarbamylase gene polymorphisms with hypertension and coronary artery vasomotion. American journal of hypertension 2009 Sep 22 (9): 993-1000. Dumont Julie, Meroufel Djabaria, Bauters Christophe, Hansmannel Franck, Bensemain Faïza, Cottel Dominique, Hamon Martial, Lambert Jean-Charles, Ducimetière Pierre, Amouyel Philippe, Zureik Mahmoud, Brousseau Thier |
| High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Molecular genetics and metabolism 2009 Mar 96 (3): 97-105. Shchelochkov Oleg A, Li Fang-Yuan, Geraghty Michael T, Gallagher Renata C, Van Hove Johan L, Lichter-Konecki Uta, Fernhoff Paul M, Copeland Sara, Reimschisel Tyler, Cederbaum Stephen, Lee Brendan, Chinault A Craig, Wong Lee-J |
| Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update. Journal of genetics and genomics = Yi chuan xue bao 2015 May 42 (5): 181-94. Caldovic Ljubica, Abdikarim Iman, Narain Sahas, Tuchman Mendel, Morizono Hiro |
| OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort. Journal of inherited metabolic disease 2021 5 44 (5): 1235-1247. Gobin-Limballe Stephanie, Ottolenghi Chris, Reyal Fabien, Arnoux Jean-Baptiste, Magen Maryse, Simon Marie, Brassier Anaïs, Jabot-Hanin Fabienne, Lonlay Pascale De, Pontoizeau Clement, Guirat Manel, Rio Marlene, Gesny Roselyne, Gigarel Nadine, Royer Ghislaine, Steffann Julie, Munnich Arnold, Bonnefont Jean-Pa |
| Phenotypes of undiagnosed adults with actionable OTC and GLA variants. HGG advances 2023 8 4 (4): 100226. Jessica I Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, , , Robert C Green, Nina B Go |
| Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China. Italian journal of pediatrics 2024 9 50 (1): 171. Gaopin Yuan, Zhiyong Liu, Zhixu Chen, Xiaohong Zhang, Weifeng Zhang, Dongmei Ch |
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