Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 52 Records) |
Query Trace: Homocysteinemia[original query] |
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[Effect of polymorphisms on key enzymes in homocysteine metabolism, on plasma homocysteine level and on coronary artery-disease risk in a Tunisian population]. Annales de cardiologie et d'angéiologie 2008 Aug 57 (4): 219-24. Belkahla R, Omezzine A, Kchok K, Rebhi L, Ben Hadj Mbarek I, Rejeb J, Ben Rejeb N, Slimane N, Nabli N, Ben Abdelaziz A, Boughzala E, Bouslama |
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2009 Mar 47 (3): 189-93. Wang Fei, Han Lian-shu, Hu Yu-hui, Yang Yan-ling, Ye Jun, Qiu Wen-juan, Zhang Ya-fen, Gao Xiao-lan, Wang Yu, Gu Xue-f |
Prothrombotic gene mutations in patients with sudden sensorineural hearing loss and cardiovascular thrombotic disease. The Annals of otology, rhinology, and laryngology 2009 Mar 118 (3): 205-10. Capaccio Pasquale, Cuccarini Valeria, Ottaviani Francesco, Fracchiolla Nicola Stefano, Bossi Anna, Pignataro Loren |
Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study. American journal of kidney diseases : the official journal of the National Kidney Foundation 2009 May 53 (5): 779-89. Jamison Rex L, Shih Mei-Chiung, Humphries Donald E, Guarino Peter D, Kaufman James S, Goldfarb David S, Warren Stuart R, Gaziano J Michael, Lavori Philip, |
Determinants of homocysteine levels in colorectal and breast cancer patients. Anticancer research 2009 Oct 29 (10): 4131-8. Ferroni P, Palmirotta R, Martini F, Riondino S, Savonarola A, Spila A, Ciatti F, Sini V, Mariotti S, Del Monte G, Roselli M, Guadagni |
Hyperhomocysteinemia in patients with epilepsy: does it play a role in the pathogenesis of brain atrophy? A preliminary report. Epilepsia 2009 Jan 50 Suppl 1 33-6. Gorgone Gaetano, Caccamo Daniela, Pisani Laura Rosa, Currò Monica, Parisi Giulia, Oteri Giancarla, Ientile Riccardo, Rossini Paolo Maria, Pisani Frances |
Could genetic analysis be useful in reducing cerebrovascular risk in hypertensive subjects with hyperhomocysteinemia and patent foramen ovale? A 2-year follow-up study. Microvascular research 2010 Dec 80 (3): 545-8. Mazza Alberto, Montemurro Domenico, L'Erario Roberto, Chinaglia Mauro, Piergentili Cristian, Aggio Silvio, Zanon Francesco, Pastore Gianni, Zanier Ada, Grassetto Gaia, Zamboni Sergio, Rubello Domeni |
Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts. Fertility and sterility 2011 Feb 95 (2): 635-40. Montjean Debbie, Benkhalifa Moncef, Dessolle Lionel, Cohen-Bacrie Paul, Belloc Stéphanie, Siffroi Jean-Pierre, Ravel Célia, Bashamboo Anu, McElreavey Kenne |
Association of uricemia with biochemical and dietary factors in human adults with metabolic syndrome genotyped to C677T polymorphism in the methylenetetrahydrofolate reductase gene. Nutrición hospitalaria 0 26 (2): 298-303. Kimi Uehara S, Rosa |
Molecular diagnosis of hereditary thrombotic disorders. Methods in molecular medicine 2011 3 49 413-26. Donnelly J |
Factor V Leiden, prothrombin 20210G>A, MTHFR 677C>T and 1298A>C, and homocysteinemia in Tunisian blood donors. Journal of clinical laboratory analysis 2012 May 26 (3): 167-73. Hadhri Samira, Rejab Mohamed Ben, Guedria Hajer, Ifa Lamia, Chatti Noureddine, Skouri Had |
Evaluation of plasma homocysteine level according to the C677T and A1298C polymorphism of the enzyme MTHRF in type 2 diabetic adults. Arquivos brasileiros de endocrinologia e metabologia 2012 Oct 56 (7): 429-34. Mello Adriana Lima, Cunha Selma Freire de Carvalho da, Foss-Freitas Maria Cristina, Vannucchi Hel |
Genetic profile and determinants of homocysteine levels in Kazakhstan patients with breast cancer. Anticancer research 2013 Sep 33 (9): 4049-59. Akilzhanova Ainur, Nurkina Zhannur, Momynaliev Kuvat, Ramanculov Erlan, Zhumadilov Zhaxibai, Zhumadilov Zhaxybai, Rakhypbekov Tolebay, Hayashida Naomi, Nakashima Masahiro, Takamura Nobo |
Hyperhomocysteinemia is an independent predictor of sub-clinical carotid vascular damage in subjects with grade-1 hypertension. Endocrine 2014 Jun 46 (2): 340-6. Mazza Alberto, Cuppini Stefano, Schiavon Laura, Zuin Marco, Ravenni Roberta, Balbi Giulia, Montemurro Domenico, Opocher Giuseppe, Pelizzo Maria Rosa, Colletti Patrick M, Rubello Domeni |
Comparison of homocysteinemia and MTHFR 677CT polymorphism with Framingham Coronary Heart Risk Score. Archivos de cardiología de México 0 84 (2): 71-8. Gariglio Luis, Riviere Stephanie, Morales Analía, Porcile Rafael, Potenzoni Miguel, Fridman Osval |
Prevalence of metilentetrahidrofolate reductase C677T polymorphism, consumption of vitamins B6, B9, B12 and determination of lipidic hydroperoxides in obese and normal weight Mexican population. Nutrición hospitalaria 0 28 (6): 2142-50. Hernández-Guerrero César, Romo-Palafox Inés, Díaz-Gutiérrez Mary Carmen, Iturbe-García Mariana, Texcahua-Salazar Alejandra, Pérez-Lizaur Ana Bert |
MTHFR polymorphism and risk of periprocedural myocardial infarction after coronary stenting. Nutrition, metabolism, and cardiovascular diseases : NMCD 2014 May 24 (5): 532-7. Verdoia M, Schaffer A, Cassetti E, Barbieri L, Di Giovine G, Marino P, De Luca G, |
Homocysteine and cognitive function in Parkinson's disease. Parkinsonism & related disorders 2017 Aug . Licking Nicole, Murchison Charles, Cholerton Brenna, Zabetian Cyrus P, Hu Shu-Ching, Montine Thomas J, Peterson-Hiller Amie L, Chung Kathryn A, Edwards Karen, Leverenz James B, Quinn Joseph |
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria. World journal of pediatrics : WJP 2018 3 14 (2): 197-203. Li Dong-Xiao, Li Xi-Yuan, Dong Hui, Liu Yu-Peng, Ding Yuan, Song Jin-Qing, Jin Ying, Zhang Yao, Wang Qiao, Yang Yan-Li |
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations. Frontiers in genetics 2019 2 9 726. Zhou Wei, Li Huizhong, Wang Chuanxia, Wang Xiuli, Gu Maoshe |
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations. Journal of human genetics 2019 1 64 (4): 305-312. Liu Yi, Kang Lulu, Li Dongxiao, Jin Ying, Song Jinqing, Li Haixia, Wang Junjuan, Yang Yanli |
Homocysteinemia is Associated with the Presence of Microbleeds in Cognitively Impaired Patients. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2020 9 29 (12): 105302. Yoo Jun Sang, Ryu Chang-Hwan, Kim Young Seo, Kim Hee-Jin, Bushnell Cheryl D, Kim Hyun You |
Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis. Molecular genetics & genomic medicine 2020 3 8 (6): e1221. Wang Chao, Liu Yang, Cai Fengying, Zhang Xinjie, Xu Xiaowei, Li Yani, Zou Qianqian, Zheng Jie, Zhang Yuqin, Guo Wei, Cai Chunquan, Shu Jian |
Life-threatening course in coronavirus disease 2019 (COVID-19): Is there a link to methylenetetrahydrofolic acid reductase (MTHFR) polymorphism and hyperhomocysteinemia? Medical hypotheses 2020 12 144 110234. Karst Matthias, Hollenhorst Josef, Achenbach Johann |
Methylenetetrahydrofolate reductase polymorphisms as genetic markers to predict homocysteinemia and clinical severity in sickle cell disease. Biomarkers in medicine 2021 3 15 (5): 337-345. Patel Suprava, Nanda Rachita, Hussain Nighat, Mohapatra Eli, Patra Pradeep |
Maternal one carbon metabolism and interleukin-10 &-17 synergistically influence the mode of delivery in women with Early Onset Pre-Eclampsia. Pregnancy hypertension 2021 Mar 24 79-89. Kaur Lovejeet, Puri Manju, Pal Sachdeva Mohinder, Mishra Jyoti, Nava Saraswathy Kall |
Circulating homocysteine and folate concentrations and risk of type 2 diabetes: A retrospective observational study in Chinese adults and a Mendelian randomization analysis. Frontiers in cardiovascular medicine 2022 9 978998. Cheng Yating, Wang Chen, Zhang Xiaokang, Zhao Yue, Jin Bingyu, Wang Chunfang, Lu Zhibing, Zheng Fa |
A Case-Control Study of the MTHFR C665T Gene Polymorphism on Macrocytic Anemia Among HIV-Infected Patients Receiving Zidovudine. Journal of multidisciplinary healthcare 2022 15 1633-1641. Pertiwi Danis, Sofro Muchlis Achsan Udji, Winarni Tri Indah, Probandari Ari Natal |
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1086-1092. Chongfen Chen, Yaodong Zhang, Lili Ge, Lei Liu, Xiaoman Zhang, Shiyue Mei, Shuying L |
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
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- Page last updated:Apr 22, 2024
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