Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: SLC6A8[original query] |
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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Human genetics 2006 Jul 119 (6): 604-10. Clark Amy J, Rosenberg Efraim H, Almeida Ligia S, Wood Tim C, Jakobs Cornelis, Stevenson Roger E, Schwartz Charles E, Salomons Gajja |
Screening of male patients with autism spectrum disorder for creatine transporter deficiency. Neuropediatrics 2007 Dec 38 (6): 310-2. Newmeyer A, deGrauw T, Clark J, Chuck G, Salomons |
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 |
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Human molecular genetics 2012 Aug 21 (15): 3513-23. Griswold Anthony J, Ma Deqiong, Cukier Holly N, Nations Laura D, Schmidt Mike A, Chung Ren-Hua, Jaworski James M, Salyakina Daria, Konidari Ioanna, Whitehead Patrice L, Wright Harry H, Abramson Ruth K, Williams Scott M, Menon Ramkumar, Martin Eden R, Haines Jonathan L, Gilbert John R, Cuccaro Michael L, Pericak-Vance Margaret |
Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable stage III colorectal adenocarcinomas. PloS one 2012 7 (1): e30020. Katkoori Venkat R, Shanmugam Chandrakumar, Jia Xu, Vitta Swaroop P, Sthanam Meenakshi, Callens Tom, Messiaen Ludwine, Chen Dongquan, Zhang Bin, Bumpers Harvey L, Samuel Temesgen, Manne Upend |
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene. Gene 2015 Jul 565 (2): 187-91. DesRoches Caro-Lyne, Patel Jaina, Wang Peixiang, Minassian Berge, Salomons Gajja S, Marshall Christian R, Mercimek-Mahmutoglu Saad |
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 |
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. Medicine 2018 12 97 (50): e13565. Jiang TieJia, Shen Yaping, Chen Huai, Yuan Zhefeng, Mao Shanshan, Gao Fe |
Whole genome sequencing of 45 Japanese patients with intellectual disability. American journal of medical genetics. Part A 2021 2 185 (5): 1468-1480. Abe-Hatano Chihiro, Iida Aritoshi, Kosugi Shunichi, Momozawa Yukihide, Terao Chikashi, Ishikawa Keiko, Okubo Mariko, Hachiya Yasuo, Nishida Hiroya, Nakamura Kazuyuki, Miyata Rie, Murakami Chie, Takahashi Kan, Hoshino Kyoko, Sakamoto Haruko, Ohta Sayaka, Kubota Masaya, Takeshita Eri, Ishiyama Akihiko, Nakagawa Eiji, Sasaki Masayuki, Kato Mitsuhiro, Matsumoto Naomichi, Kamatani Yoichiro, Kubo Michiaki, Takahashi Yoshiyuki, Natsume Jun, Inoue Ken, Goto Yu-Ic |
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population. Human genetics 2021 11 141 (1): 81-99. Mir Ali, Almudhry Montaha, Alghamdi Fouad, Albaradie Raidah, Ibrahim Mona, Aldurayhim Fatimah, Alhedaithy Abdullah, Alamr Mushari, Bawazir Maryam, Mohammad Sahar, Abdelhay Salma, Bashir Shahid, Housawi Yous |
Pan-Cancer Analysis of the Oncogenic and Immunological Role of Solute Carrier Family 6 Member 8 (SLC6A8). Frontiers in genetics 2022 9 13 916439. Yang Xin, Li Qi |
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:Apr 22, 2024
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