Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: GAMT[original query] |
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Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility. Pakistan journal of pharmaceutical sciences 2011 Jan 24 (1): 75-9. Iqbal Furhan, Item Chike Bellarmine, Ratschmann Rene, Ali Muhammad, Plas Eugen, Bodamer Ol |
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. Molecular genetics and metabolism 2012 Aug . Mercimek-Mahmutoglu S, Sinclair G, van Dooren SJ, Kanhai W, Ashcraft P, Michel OJ, Nelson J, Betsalel OT, Sweetman L, Jakobs C, Salomons GS |
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. Molecular genetics and genomics : MGG 2015 May . Desroches Caro-Lyne, Patel Jaina, Wang Peixiang, Minassian Berge, Marshall Christian R, Salomons Gajja S, Mercimek-Mahmutoglu Saad |
Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population. Birth defects research. Part A, Clinical and molecular teratology 2016 Mar . Piao Wei, Guo Jin, Bao Yihua, Wang Fang, Zhang Ting, Huo Junsheng, Zhang Kunl |
Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder. International journal of molecular sciences 2017 8 18 (8): . Cameron Jessie M, Levandovskiy Valeriy, Roberts Wendy, Anagnostou Evdokia, Scherer Stephen, Loh Alvin, Schulze Andre |
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 3 22 (3): 369-379. Khaikin Yannay, Sidky Sarah, Abdenur Jose, Anastasi Arnaud, Ballhausen Diana, Buoni Sabrina, Chan Alicia, Cheillan David, Dorison Nathalie, Goldenberg Alice, Goldstein Jennifer, Hofstede Floris C, Jacquemont Marie-Line, Koeberl Dwight D, Lion-Francois Laurence, Lund Allan Meldgaard, Mention Karine, Mundy Helen, O'Rourke Declan, Pitelet Gaele, Raspall-Chaure Miquel, Tassini Maria, Billette de Villemeur Thierry, Williams Monique, Salomons Gajja S, Mercimek-Andrews Saad |
Duplications in 19p13.3 are associated with male infertility. Journal of assisted reproduction and genetics 2019 Aug . Singh Vertika, Bala Renu, Chakraborty Arijit, Rajender Singh, Trivedi Sameer, Singh Kir |
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
Genome-Wide Association Studies and Haplotype-Sharing Analysis Targeting the Egg Production Traits in Shaoxing Duck. Frontiers in genetics 2022 4 13 828884. Xu Wenwu, Wang Zhenzhen, Qu Yuanqi, Li Qingyi, Tian Yong, Chen Li, Tang Jianhong, Li Chengfeng, Li Guoqin, Shen Junda, Tao Zhengrong, Cao Yongqing, Zeng Tao, Lu Liz |
DNA Repair and Replication-Related Gene Signature Based on Tumor Mutation Burden Reveals Prognostic and Immunotherapy Response in Gastric Cancer. Journal of oncology 2022 1 2022 6469523. Zhang Lei, Hu Dahai, Huangfu Shuchen, Zhou Jiaxin, Wang Wei, Liu Shijin, Tang Hui, Pan Jinghua, Pan Yunlo |
Fourteen cases of cerebral creatine deficiency syndrome in children: a cohort study in China. Translational pediatrics 2023 6 12 (5): 927-937. Weihua Sun, Yi Wang, Mengyuan Wu, Hongjiang Wu, Xiaomin Peng, Yingyan Shi, Feifan Xiao, Bingbing Wu, Wenhao Zhou, Wei |
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- Page last updated:Mar 25, 2024
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