Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 57 Records) |
| Query Trace: Disease and SLC22A5[original query] |
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| [Susceptibility genetic variants in Hungarian morbus Crohn and ulcerative colitis patients]. Orvosi hetilap 2009 Jan 150 (2): 81-8. Magyari Lili, Melegh Bé |
| Plasma carnitine ester profiles in Crohn's disease and ulcerative colitis patients with different IGR2230a_1 genotypes. International journal of immunogenetics 2009 Dec 36 (6): 329-35. Talián G, Lakner L, Bene J, Komlósi K, Horváth K, Gasztonyi B, Miheller P, Figler M, Mózsik G, Tulassay Z, Melegh |
| SLC22A4 and SLC22A5 gene polymorphisms and Crohn's disease in the Chinese Han population. Journal of digestive diseases 2009 Aug 10 (3): 181-7. Feng Yun, Zheng Ping, Zhao Hang, Wu K |
| [Possible role of selected IGR and SLC22A4/SLC22A5 loci in development of inflammatory bowel diseases]. Orvosi hetilap 2009 Jul 150 (29): 1375-80. Lakner Lilla, Csöngei Veronika, Magyari Lili, Varga Márta, Miheller Pál, Sarlós Patrícia, Orosz Péter, Bári Zsolt, Takács István, Járomi Luca, Sáfrány Eniko, Sipeky Csilla, Bene Judit, Tulassay Zsolt, Döbrönte Zoltán, Melegh Bé |
| Polymorphisms in the IBD5 locus are associated with Crohn disease in pediatric Ashkenazi Jewish patients. Journal of pediatric gastroenterology and nutrition 2009 May 48 (5): 531-7. Tomer Gitit, Wetzler Graciela, Keddache Mehdi, Denson Lee |
| IGR2096a_1 T and IGR2198a_1 C alleles on IBD5 locus of chromosome 5q31 region confer risk for Crohn's disease in Hungarian patients. International journal of colorectal disease 2009 May 24 (5): 503-7. Lakner Lilla, Csöngei Veronika, Sarlós Patrícia, Járomi Luca, Sáfrány Eniko, Varga Márta, Orosz Péter, Magyari Lili, Bene Judit, Miheller Pál, Tulassay Zsolt, Melegh Bé |
| Clinical and genetic analysis of lipid storage myopathies. Muscle & nerve 2009 Mar 39 (3): 333-42. Ohkuma Aya, Noguchi Satoru, Sugie Hideo, Malicdan May Christine V, Fukuda Tokiko, Shimazu Kunio, López Luis Carlos, Hirano Michio, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichi |
| Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
Circulation. Cardiovascular genetics 2009 Apr 2 (2): 134-41. Danik Jacqueline S, Paré Guillaume, Chasman Daniel I, Zee Robert Y L, Kwiatkowski David J, Parker Alex, Miletich Joseph P, Ridker Paul |
| High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. Clinical genetics 2010 Dec 78 (6): 565-9. Lan M-Y, Fu M-H, Liu Y-F, Huang C-C, Chang Y-Y, Liu J-S, Peng C-H, Chen S |
| Haplotype in the IBD5 region is associated with refractory Crohn's disease in Slovenian patients and modulates expression of the SLC22A5 gene. Journal of gastroenterology 2011 Jun . Repnik K, Poto?nik U |
| Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population. Inflammatory bowel diseases 2011 Jul 17 (7): 1523-9. Hradsky Ondrej, Dusatkova Petra, Lenicek Martin, Bronsky Jiri, Duricova Dana, Nevoral Jiri, Vitek Libor, Lukas Milan, Cinek Ondr |
| Identification of DLG5 and SLC22A5 gene polymorphisms in Malaysian patients with Crohn's disease. Journal of digestive diseases 2011 Dec 12 (6): 6. Chua KH, Lian LH, Kee BP, Thum CM, Lee WS, Hilmi I, Goh KL |
| Contribution of higher risk genes and European admixture to Crohn's disease in African Americans. Inflammatory bowel diseases 2012 Dec 18 (12): 2277-87. Wang Ming-Hsi, Okazaki Toshihiko, Kugathasan Subra, Cho Judy H, Isaacs Kim L, Lewis James D, Smoot Duane T, Valentine John F, Kader Howard A, Ford Jean G, Harris Mary L, Oliva-Hemker Maria, Cuffari Carmen, Torbenson Michael S, Duerr Richard H, Silverberg Mark S, Rioux John D, Taylor Kent D, Nguyen Geoffrey C, Wu Yuqiong, Datta Lisa W, Hooker Stanley, Dassopoulos Themistocles, Kittles Rick A, Kao Linda W H, Brant Steven |
| Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy. Pharmacological research : the official journal of the Italian Pharmacological Society 2012 Nov . Angelini S, Pantaleo MA, Ravegnini G, Zenesini C, Cavrini G, Nannini M, Fumagalli E, Palassini E, Saponara M, Di Battista M, Casali PG, Hrelia P, Cantelli-Forti G, Biasco G |
| Genetic variants in the JAK1 gene confer higher risk of Behcet's disease with ocular involvement in Han Chinese. Human genetics 2013 Sep 132 (9): 1049-58. Hou Shengping, Qi Jian, Zhang Qi, Liao Dan, Li Qi, Hu Ke, Zhou Yan, Kijlstra Aize, Yang Peize |
| Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. European journal of medical genetics 2014 Oct 57 (10): 571-5. Han Lianshu, Wang Fei, Wang Yu, Ye Jun, Qiu Wenjuan, Zhang Huiwen, Gao Xiaolan, Gong Zhuwen, Gu Xuef |
| Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions. World journal of gastroenterology : WJG 2014 Jan 20 (1): 219-27. Sarlos Patricia, Varszegi Dalma, Csongei Veronika, Magyari Lili, Jaromi Luca, Nagy Lajos, Melegh Be |
| Single Nucleotide Polymorphisms in MORC4, CD14, and TLR4 Are Related to Outcome of Allogeneic Stem Cell Transplantation. Annals of transplantation : quarterly of the Polish Transplantation Society 2016 21 56-67. Norén Elisabeth, Verma Deepti, Söderkvist Peter, Weisselberg Tilman, Söderman Jan, Lotfi Kourosh, Almer Sv |
| Carnitine levels and mutations in the SLC22A5 gene in Faroes patients with Parkinson's disease. Neuroscience letters 2018 4 675 116-119. Crooks Súsanna A, Bech Sára, Halling Jónrit, Christiansen Debes H, Ritz Beate, Petersen Maria Skaal |
| SLC22A5 polymorphism associated with risk of extra-articular manifestations in rheumatoid arthritis patients. Reumatologia 2019 57 (1): 3-7. Pawlik Andrzej, Paradowska-Gorycka Agnieszka, Safranow Krzysztof, Dziedziejko Violetta, Dutkiewicz Gra?yna, S?ucznowska-G?abowska Sylwia, Juzyszyn Zygmunt, Drozdzik Mar |
| A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease.
Scientific reports 2020 Feb 10 (1): 1862. González-Serna David, Ochoa Eguzkine, López-Isac Elena, Julià Antonio, Degenhardt Frauke, Ortego-Centeno Norberto, Radstake Timothy R D J, Franke Andre, Marsal Sara, Mayes Maureen D, Martín Javier, Márquez Ana, |
| Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population. Frontiers in genetics 2021 8 12 631688. Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R |
| Increased detection of primary carnitine deficiency through second-tier newborn genetic screening. Orphanet journal of rare diseases 2021 3 16 (1): 149. Lin Yiming, Zhang Weifeng, Huang Chenggang, Lin Chunmei, Lin Weihua, Peng Weilin, Fu Qingliu, Chen Dongm |
| Genetic Variants of ABC and SLC Transporter Genes and Chronic Myeloid Leukaemia: Impact on Susceptibility and Prognosis. International journal of molecular sciences 2022 9 23 (17): . Alves Raquel, Gonçalves Ana Cristina, Jorge Joana, Marques Gilberto, Ribeiro André B, Tenreiro Rita, Coucelo Margarida, Diamond Joana, Oliveiros Bárbara, Pereira Amélia, Freitas-Tavares Paulo, Almeida António M, Sarmento-Ribeiro Ana Be |
| Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China. Frontiers in genetics 2022 12 13 1062715. Chang Siyu, Yang Yi, Xu Feng, Ji Wenjun, Zhan Xia, Gao Xiaolan, Chen Ting, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Lu Deyun, Zhang Kaichuang, Gu Xuefan, Han Lians |
| Pharmacogenetic Variation and Its Clinical Relevance in a Latin American Rural Population. International journal of molecular sciences 2022 Oct 23 (19): . Olloquequi Jordi, Castro-Santos Patricia, Díaz-Peña Rober |
| [A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
| Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening. Frontiers in genetics 2023 12 14 1304458. Xiaoshan Ji, Yanzhuang Ge, Qi Ni, Suhua Xu, Zhongmeng Xiong, Lin Yang, Liyuan Hu, Yun Cao, Yulan Lu, Qiufen Wei, Wenqing Kang, Deyi Zhuang, Wenhao Zhou, Xinran Do |
| Newborn screening for fatty acid oxidation disorders in a southern Chinese population. Heliyon 2024 1 10 (1): e23671. Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Pe |
| Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening. Frontiers in public health 2025 1 12 1461141. Guihua Lai, Qiying Gu, Zhiyong Lai, Haijun Chen, Xiangwen Tu, Junkun Chen, Jungao Hua |
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