Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: QDPR[original query] |
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Neurotransmission and bipolar disorder: a systematic family-based association study. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008 Oct 147B (7): 1270-7. Shi Jiajun, Badner Judith A, Hattori Eiji, Potash James B, Willour Virginia L, McMahon Francis J, Gershon Elliot S, Liu Chun |
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain : a journal of neurology 2009 Jul 132 (Pt 7): 1753-63. Clot Fabienne, Grabli David, Cazeneuve Cécile, Roze Emmanuel, Castelnau Pierre, Chabrol Brigitte, Landrieu Pierre, Nguyen Karine, Ponsot Gérard, Abada Myriem, Doummar Diane, Damier Philippe, Gil Roger, Thobois Stéphane, Ward Alana J, Hutchinson Michael, Toutain Annick, Picard Fabienne, Camuzat Agnès, Fedirko Estelle, Sân Chankannira, Bouteiller Delphine, LeGuern Eric, Durr Alexandra, Vidailhet Marie, Brice Alexis, |
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. European journal of human genetics : EJHG 2014 Apr 22 (4): 528-34. Trujillano Daniel, Perez Belén, González Justo, Tornador Cristian, Navarrete Rosa, Escaramis Georgia, Ossowski Stephan, Armengol Lluís, Cornejo Verónica, Desviat Lourdes R, Ugarte Magdalena, Estivill Xavi |
Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing. PloS one 2014 9 (4): e94100. Gu Ying, Lu Kangmo, Yang Guanghui, Cen Zhong, Yu Li, Lin Lin, Hao Jing, Yang Zhigang, Peng Jiabao, Cui Shujian, Huang Ji |
Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR. BMC medical genetics 2016 17 (1): 65. Zahra Charmaine, Tabone Christine, Camilleri Graziella, Felice Alex E, Farrugia Rosienne, Bezzina Wettinger Stephan |
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients. Journal of pediatric endocrinology & metabolism : JPEM 2018 7 31 (8): 911-916. Li Nana, Yu Ping, Rao Bin, Deng Ying, Guo Yixiong, Huang Yushan, Ding Lijie, Zhu Jun, Yang Huanming, Wang Jian, Guo Jian, Chen Fang, Liu Zh |
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. Clinica chimica acta; international journal of clinical chemistry 2018 3 481 132-138. Wang Ruifang, Shen Nan, Ye Jun, Han Lianshu, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Sun Yu, Fan Yanjie, Wang Lili, Wang Yu, Gong Zhuwen, Liu Huili, Wang Jianguo, Yan Hui, Blau Nenad, Gu Xuefan, Yu Yongg |
BH4-deficient hyperphenylalaninemia in Russia. PloS one 2021 4 16 (4): e0249608. Gundorova Polina, Kuznetcova Irina A, Baydakova Galina V, Stepanova Anna A, Itkis Yulia S, Kakaulina Victoria S, Alferova Irina P, Lyazina Lidya V, Andreeva Lilya P, Kanivets Ilya, Zakharova Ekaterina Y, Kutsev Sergey I, Polyakov Aleksander |
Genome-wide gene-bisphenol A, F and triclosan interaction analyses on urinary oxidative stress markers.
The Science of the total environment 2021 Oct 807 (Pt 1): 150753. Zhong Rong, He Heng, Jin Meng, Lu Zequn, Deng Yao, Liu Chong, Shen Na, Li Jiaoyuan, Wang Haoxue, Ying Pingting, Li Bin, Zeng Qiang, Lu Qing, Cheng Liming, Zhu Ying, Miao Xiaoping, Tian Jian |
[Screening results and genetic analysis of neonatal tetrahydrobiopterin deficiency in Hainan Province from 2007 to 2019]. Zhonghua yi xue za zhi 2021 10 101 (38): 3161-3163. Huang C D, Zhao Z D, Liu X L, Wen Y M, Haizhu H Z, Zhu X M, Yang C, Wang |
Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants. Molecular genetics & genomic medicine 2022 11 10 (12): e2081. Sadat Fatemi Seyedeh Helia, Eshraghi Peyman, Ghanei Mahmoud, Hamzehloei Tayeb |
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing. Biomedicines 2023 7 11 (7): . Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri, Sebastiano Cavalla |
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