Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: SLC25A13[original query] |
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[Improving the diagnostic method for the SLC25A13 gene 851del4 mutation and analysis of the common mutation frequencies in Quanzhou area]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010 Dec 27 (6): 626-30. Gao Hong-zhi, Li Qiu-lan, Zhuang Xiang-long, Keiko Kobayashi, Miharu Ushikai, Takeyori Saheki, Hu Wei-peng, Zhou Chang-wen, Lin Li |
SLC25A13 gene mutations in Taiwanese patients with non-viral hepatocellular carcinoma. Molecular genetics and metabolism 2011 Jul 103 (3): 293-6. Chang Kuei-Wen, Chen Huey-Ling, Chien Yin-Hsiu, Chen Tse-Ching, Yeh Chau-Ti |
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2011 Apr 13 (4): 303-8. Wen Peng-Qiang, Wang Guo-Bing, Chen Zhan-Ling, Cui Dong, Yuan Quan, Song Ping, Chen Shu-Li, Liao Jian-Xiang, Li Cheng-Ro |
Association between in vivo alcohol metabolism and genetic variation in pathways that metabolize the carbon skeleton of ethanol and NADH reoxidation in the alcohol challenge twin study. Alcoholism, clinical and experimental research 2012 Dec 36 (12): 2074-85. Lind Penelope A, Macgregor Stuart, Heath Andrew C, Madden Pamela A F, Montgomery Grant W, Martin Nicholas G, Whitfield John |
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Nature genetics 2012 May 44 (5): 491-501. Estrada Karol, Styrkarsdottir Unnur, Evangelou Evangelos, Hsu Yi-Hsiang, Duncan Emma L, Ntzani Evangelia E, Oei Ling, Albagha Omar M E, Amin Najaf, Kemp John P, Koller Daniel L, Li Guo, Liu Ching-Ti, Minster Ryan L, Moayyeri Alireza, Vandenput Liesbeth, Willner Dana, Xiao Su-Mei, Yerges-Armstrong Laura M, Zheng Hou-Feng, Alonso Nerea, Eriksson Joel, Kammerer Candace M, Kaptoge Stephen K, Leo Paul J, Thorleifsson Gudmar, Wilson Scott G, Wilson James F, Aalto Ville, Alen Markku, Aragaki Aaron K, Aspelund Thor, Center Jacqueline R, Dailiana Zoe, Duggan David J, Garcia Melissa, Garcia-Giralt Natàlia, Giroux Sylvie, Hallmans Göran, Hocking Lynne J, Husted Lise Bjerre, Jameson Karen A, Khusainova Rita, Kim Ghi Su, Kooperberg Charles, Koromila Theodora, Kruk Marcin, Laaksonen Marika, Lacroix Andrea Z, Lee Seung Hun, Leung Ping C, Lewis Joshua R, Masi Laura, Mencej-Bedrac Simona, Nguyen Tuan V, Nogues Xavier, Patel Millan S, Prezelj Janez, Rose Lynda M, Scollen Serena, Siggeirsdottir Kristin, Smith Albert V, Svensson Olle, Trompet Stella, Trummer Olivia, van Schoor Natasja M, Woo Jean, Zhu Kun, Balcells Susana, Brandi Maria Luisa, Buckley Brendan M, Cheng Sulin, Christiansen Claus, Cooper Cyrus, Dedoussis George, Ford Ian, Frost Morten, Goltzman David, González-Macías Jesús, Kähönen Mika, Karlsson Magnus, Khusnutdinova Elza, Koh Jung-Min, Kollia Panagoula, Langdahl Bente Lomholt, Leslie William D, Lips Paul, Ljunggren Östen, Lorenc Roman S, Marc Janja, Mellström Dan, Obermayer-Pietsch Barbara, Olmos José M, Pettersson-Kymmer Ulrika, Reid David M, Riancho José A, Ridker Paul M, Rousseau François, Slagboom P Eline, Tang Nelson L S, Urreizti Roser, Van Hul Wim, Viikari Jorma, Zarrabeitia María T, Aulchenko Yurii S, Castano-Betancourt Martha, Grundberg Elin, Herrera Lizbeth, Ingvarsson Thorvaldur, Johannsdottir Hrefna, Kwan Tony, Li Rui, Luben Robert, Medina-Gómez Carolina, Palsson Stefan Th, Reppe Sjur, Rotter Jerome I, Sigurdsson Gunnar, van Meurs Joyce B J, Verlaan Dominique, Williams Frances M K, Wood Andrew R, Zhou Yanhua, Gautvik Kaare M, Pastinen Tomi, Raychaudhuri Soumya, Cauley Jane A, Chasman Daniel I, Clark Graeme R, Cummings Steven R, Danoy Patrick, Dennison Elaine M, Eastell Richard, Eisman John A, Gudnason Vilmundur, Hofman Albert, Jackson Rebecca D, Jones Graeme, Jukema J Wouter, Khaw Kay-Tee, Lehtimäki Terho, Liu Yongmei, Lorentzon Mattias, McCloskey Eugene, Mitchell Braxton D, Nandakumar Kannabiran, Nicholson Geoffrey C, Oostra Ben A, Peacock Munro, Pols Huibert A P, Prince Richard L, Raitakari Olli, Reid Ian R, Robbins John, Sambrook Philip N, Sham Pak Chung, Shuldiner Alan R, Tylavsky Frances A, van Duijn Cornelia M, Wareham Nick J, Cupples L Adrienne, Econs Michael J, Evans David M, Harris Tamara B, Kung Annie Wai Chee, Psaty Bruce M, Reeve Jonathan, Spector Timothy D, Streeten Elizabeth A, Zillikens M Carola, Thorsteinsdottir Unnur, Ohlsson Claes, Karasik David, Richards J Brent, Brown Matthew A, Stefansson Kari, Uitterlinden André G, Ralston Stuart H, Ioannidis John P A, Kiel Douglas P, Rivadeneira Fernan |
Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency. Gene 2012 Dec 511 (2): 227-34. Zhang Zhan-Hui, Lin Wei-Xia, Deng Mei, Zhao Xin-Jing, Song Yuan-Zo |
Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants. BMC gastroenterology 2012 12 (1): 141. Treepongkaruna Suporn, Jitraruch Suttiruk, Kodcharin Porawee, Charoenpipop Dussadee, Suwannarat Pim, Pienvichit Paneeya, Kobayashi Keiko, Wattanasirichaigoon Duangrurd |
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Molecular genetics and metabolism 2012 Apr 105 (4): 553-8. Kikuchi Atsuo, Arai-Ichinoi Natsuko, Sakamoto Osamu, Matsubara Yoichi, Saheki Takeyori, Kobayashi Keiko, Ohura Toshihro, Kure Shig |
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. PloS one 2013 8 (9): e74544. Song Yuan-Zong, Zhang Zhan-Hui, Lin Wei-Xia, Zhao Xin-Jing, Deng Mei, Ma Yan-Li, Guo Li, Chen Feng-Ping, Long Xiao-Ling, He Xiang-Ling, Sunada Yoshihide, Soneda Shun, Nakatomi Akiko, Dateki Sumito, Ngu Lock-Hock, Kobayashi Keiko, Saheki Takeyo |
Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis. World journal of gastroenterology : WJG 2013 Jul 19 (28): 4545-51. Chen Rui, Wang Xiao-Hong, Fu Hai-Yan, Zhang Shao-Ren, Abudouxikuer Kuerbanjiang, Saheki Takeyori, Wang Jian-S |
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests. BMC medical genetics 2013 14 (1): 24. Wang Li-Yun, Chen Nien-I, Chen Pin-Wen, Chiang Shu-Chuan, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hs |
Screening of SLC25A13 mutation in the Thai population. World journal of gastroenterology : WJG 2013 Nov 19 (43): 7735-42. Wongkittichote Parith, Sukasem Chonlaphat, Kikuchi Atsuo, Aekplakorn Wichai, Jensen Laran T, Kure Shigeo, Wattanasirichaigoon Duangrurd |
Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency. The Tohoku journal of experimental medicine 2014 233 (4): 275-81. Zhang Zhan-Hui, Yang Zhi-Gang, Chen Feng-Ping, Kikuchi Atsuo, Liu Zhen-Huan, Kuang Li-Zhen, Li Wei-Ming, Song Yuan-Zong, Kure Shigeo, Saheki Takeyo |
[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 Oct 34 (5): 676-679. Lin Yiming, Yu Ke, Li Lufeng, Zheng Zhenzhu, Lin Weihua, Fu Qingl |
SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations. Gene 2018 5 668 190-195. Radha Rama Devi Akella, Naushad Shaik Mohamm |
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency. The Turkish journal of pediatrics 2018 1 59 (3): 311-314. ?eker-Y?lmaz Berna, Kör Deniz, Tümgör Gökhan, Ceylaner Serdar, Önenli-Mungan Neslih |
Molecular findings in children with inherited intrahepatic cholestasis. Pediatric research 2019 Aug . Wang Neng-Li, Lu Yi, Gong Jing-Yu, Xie Xin-Bao, Lin Jing, Abuduxikuer Kuerbanjiang, Zhang Mei-Hong, Wang Jian-S |
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency. Journal of inherited metabolic disease 2019 Dec . Lin Yiming, Liu Yaru, Zhu Lin, Le Kaixing, Shen Yuyan, Yang Chiju, Chen Xigui, Hu Haili, Ma Qingqing, Shi Xueqin, Hu Zhenzhen, Yang Jianbin, Shen Yaping, Lin Chien-Hsing, Huang Chenggang, Huang Xinw |
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. Frontiers in genetics 2019 11 10 1052. Wang Ting, Ma Jun, Zhang Qin, Gao Ang, Wang Qi, Li Hong, Xiang Jingjing, Wang Benji |
Revisiting Schizophrenia from an Evolutionary Perspective: An Association Study of Recent Evolutionary Markers and Schizophrenia. Schizophrenia bulletin 2020 Dec . Bhattacharyya Upasana, Deshpande Smita N, Bhatia Triptish, Thelma B |
A Meta-Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2020 Nov . Yau Michelle S, Kuipers Allison L, Price Ryan, Nicolas Aude, Tajuddin Salman M, Handelman Samuel K, Arbeeva Liubov, Chesi Alessandra, Hsu Yi-Hsiang, Liu Ching-Ti, Karasik David, Zemel Babette S, Grant Struan Fa, Jordan Joanne M, Jackson Rebecca D, Evans Michele K, Harris Tamara B, Zmuda Joseph M, Kiel Douglas |
[Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment]. Postepy biochemii 2021 8 67 (2): 157-162. Lipi?ski Patryk, Ciara El?bieta, Ehmke Vel Emczy?ska-Seliga Ewa, Jankowska Ire |
Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis. Frontiers in pediatrics 2021 5 9 654527. Zeng Qinlong, Yang Yingsong, Luo Jiahong, Xu Jinmei, Deng Choufen, Yang Yuanjuan, Tan Shuming, Sun Shuxiang, Li Yuping, Ou To |
Germline variants predictive of tumor mutational burden and immune checkpoint inhibitor efficacy. iScience 2021 3 24 (3): 102248. Chatrath Ajay, Ratan Aakrosh, Dutta Anind |
Cancer carrier screening in the general population using whole-genome sequencing. Cancer medicine 2022 Jul . Chang Ya-Sian, Chao Dy-San, Chung Chin-Chun, Chou Yu-Pao, Chang Chieh-Min, Lin Chia-Li, Chu Hou-Wei, Chen Hon-Da, Liu Ting-Yuan, Juan Yu-Hsuan, Chang Shun-Jen, Chang Jan-Gow |
[Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 3 39 (3): 269-275. Xu Xilin, He Wenbin, Wang Ying, Gong Fei, Lu Guangxiu, Lin Ge, Tan Yueqiu, Du Ju |
Genetic background and clinical characteristics of infantile hyperammonemia. Translational pediatrics 2023 6 12 (5): 882-889. Mengyao Li, Xiang Chen, Huiyao Chen, Liyuan Hu, Yun Cao, Guoqiang Cheng, Laishuan Wang, Bingbing Wu, Wei Lu, Lin Yang, Wenhao Zh |
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis. Journal of human genetics 2023 1 . Nguyen Mai-Huong Thi, Nguyen Anh-Hoa Pham, Ngo Diem-Ngoc, Nguyen Phuong-Mai Thi, Tang Hung-Sang, Giang Hoa, Lu Y-Thanh, Nguyen Hoai-Nghia, Tran Minh-Di |
[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 461-466. Xinyun Zhu, Yizhuo Xu, Jie Zhang, Xiaole Li, Jingwen He, Chenlu Jia, Shubo Lyu, Suna Liu, Yanbo Gao, Kun Ma, Yunjia Ouyang, Yihui Ren, Dehua Zh |
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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