Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 472 Records) |
Query Trace: PAH[original query] |
---|
Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry. International journal of molecular sciences 2022 Sep 23 (18): . Cruz-Utrilla Alejandro, Gallego-Zazo Natalia, Tenorio-Castaño Jair Antonio, Guillén Inmaculada, Torrent-Vernetta Alba, Moya-Bonora Amparo, Labrandero Carlos, Rodríguez-Monte María Elvira Garrido-Lestache, Rodríguez-Ogando Alejandro, Rey María Del Mar Rodríguez Vázquez Del, Espín Juana, Plata-Izquierdo Beatriz, Álvarez-Fuente María, Moreno-Galdó Antonio, Escribano-Subias Pilar, Marín María Jesús Del Cer |
Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China. Molecular biology reports 2022 Sep . Zhou Jinfu, Zeng Yinglin, Qiu Xiaolong, Lin Qingying, Chen Weifeng, Luo Jinying, Xu Liang |
Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province. Frontiers in genetics 2022 12 13 1077729. Xie Kang, Zeng Baitao, Zhang Liuyang, Chen Shaohong, Zou Yongyi, Yuan Huizhen, Huang Shuhui, Wang Feng, Lu Qing, Liu Yanqiu, Yang Biche |
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants. Genetic testing and molecular biomarkers 2022 12 26 (12): 573-581. Zhang Wenyan, Jin Feng, Guo Ruolan, Qi Zhan, Wang Yaling, Li Xueling, Wu Yali, Li Wei, Hu Xuyun, Hao Chanju |
Right ventricular energetic biomarkers from 4D Flow CMR are associated with exertional capacity in pulmonary arterial hypertension. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2022 12 24 (1): 61. Zhao Xiaodan, Leng Shuang, Tan Ru-San, Chai Ping, Yeo Tee Joo, Bryant Jennifer Ann, Teo Lynette L S, Fortier Marielle V, Ruan Wen, Low Ting Ting, Ong Ching Ching, Zhang Shuo, van der Geest Rob J, Allen John C, Hughes Marina, Garg Pankaj, Tan Teng Hong, Yip James W, Tan Ju Le, Zhong Lia |
Passive smoking and insomnia in rural Chinese nonsmoking housewives: An environmental and genetic perspective. Environment international 2022 Oct 170 107569. Jin Ming, Chen Huiting, Na Jigen, An Hang, Li Zhiwen, Li N |
MEG3 polymorphisms associated with leukocyte telomere length in workers exposed to polycyclic aromatic hydrocarbons. Environmental science and pollution research international 2023 9 . Xinling Li, Xiaoran Duan, Meiye Wang, Wei Wa |
Identification of potential susceptibility genes in patients with primary Sjögren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing. Arthritis research & therapy 2023 9 25 (1): 175. Mucong Li, Yue Shi, Jiuliang Zhao, Qian Wang, Mengtao Li, Xiuli Zh |
Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City. Discovery medicine 2023 8 35 (177): 533-538. Xinyou Yu, Fang Liu, Bo Wei, Meijuan Li, Ruiping Lu, Lihua P |
Mutational landscape of phenylketonuria in Iran. Journal of cellular and molecular medicine 2023 8 . Naser Ajami, Anvar Soleimani, Reza Jafarzadeh-Esfehani, Mojtaba Hasanpour, Romina Rashid Shomali, Mohammad Reza Abbaszadeg |
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 |
Association study identified HLA-DQA1 as a novel genetic risk of systemic lupus erythematosus-associated pulmonary arterial hypertension. Arthritis & rheumatology (Hoboken, N.J.) 2023 6 . Junyan Qian, Ying Chen, Xinzhuang Yang, Qian Wang, Jiuliang Zhao, Xiaoyue Deng, Yufang Ding, Shengjie Li, Yongtai Liu, Zhuang Tian, Juan Shen, Qijun Liao, Yanhong Wang, Xianbo Zuo, Xuejun Zhang, Mengtao Li, Yong Cui, Xueqing Yu, Xiaofeng Ze |
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing. Orphanet journal of rare diseases 2023 5 18 (1): 128. Chuan Zhang, Yousheng Yan, Bingbo Zhou, Yupei Wang, Xinyuan Tian, Shengju Hao, Panpan Ma, Lei Zheng, Qinghua Zhang, Ling Hui, Yan Wang, Zongfu Cao, Xu |
[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 |
Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension. Radiology 2023 5 222488. Qinhua Zhao, Rui Zhang, Jingyun Shi, Huikang Xie, Liping Zhang, Fei Li, Rong Jiang, Wenhui Wu, Cijun Luo, Hongling Qiu, Huiting Li, Jing He, Ping Yuan, JinMing Liu, Sugang Gong, Lan Wa |
PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania. Diagnostics (Basel, Switzerland) 2023 5 13 (8): . Alin Iuhas, Claudia Jurca, Kinga Kozma, Anca-Lelia Riza, Ioana Strea??, Codru?a Petche?i, Andra Dan, Cristian Sava, Andreea Balmo?, Cristian Marin?u, Larisa Niula?, Mihai Ioana, Marius Bemb |
RASA3 is a candidate gene in sickle cell disease-associated pulmonary hypertension and pulmonary arterial hypertension. Pulmonary circulation 2023 4 13 (2): e12227. Clare C Prohaska, Xu Zhang, Tae-Hwi L Schwantes-An, Robert S Stearman, Stanley Hooker, Rick A Kittles, Micheala A Aldred, Katie A Lutz, Michael W Pauciulo, William C Nichols, Ankit A Desai, Victor R Gordeuk, Roberto F Macha |
Identification of novel genetic variants, including PIM1 and LINC01491, with ICD-10 based diagnosis of pulmonary arterial hypertension in the UK Biobank cohort.
Frontiers in drug discovery 2023 4 3 . Alex Pu, Gautam Ramani, Yi-Ju Chen, James A Perry, Charles C Ho |
Mendelian randomization study on causal association of IL-6 signaling with pulmonary arterial hypertension. Clinical and experimental hypertension (New York, N.Y. : 1993) 2023 3 45 (1): 2183963. Zhang Min, Zeng Qi, Zhou Shan, Zhu Gaizhi, Xu Yaqi, Gao Ran, Su Wenting, Wang Ren |
Nitrated polycyclic aromatic hydrocarbon (nitro-PAH) signatures and somatic mutations in diesel exhaust-exposed bladder tumors. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2023 3 . Gonzalez Nicole, Rao Nina, Dean Michael, Lee Donghyuk, Hurson Amber N, Baris Dalsu, Schwenn Molly, Johnson Alison, Prokunina-Olsson Ludmila, Friesen Melissa C, Zhu Bin, Rothman Nathaniel, Silverman Debra T, Koutros Stel |
Transpulmonary generation of cell-free hemoglobin contributes to vascular dysfunction in pulmonary arterial hypertension via dysregulated clearance mechanisms. Pulmonary circulation 2023 2 13 (1): e12185. Meegan Jamie E, Kerchberger Vern Eric, Fortune Niki L, McNeil Joel Brennan, Bastarache Julie A, Austin Eric D, Ware Lorraine B, Hemnes Anna R, Brittain Evan |
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia. The Journal of molecular diagnostics : JMD 2023 2 . Luo Xiaomei, Wang Ruifang, Sun Yu, Qiu Wenjuan, Lu Deyun, Wang Yu, Gong Zhuwen, Zhang Huiwen, Han Lianshu, Liang Lili, Gu Xuefan, Yu Yongguo, Xiao Bi |
Evaluation of maternal-fetal outcomes in pregnancy complicated with severe pulmonary hypertension and its influencing factors: a single-center retrospective study in China. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2023 12 36 (2): 2290923. Qiulan Dai, Manman Shang, Yu Zhou, Qin W |
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023 12 1-10. Duo Zhou, Rulai Yang, Xinwen Huang, Xiaolei Huang, Xin Yang, Huaqing Mao, Jianbin Yang, Zhengyan Zh |
Treprostinil effectiveness in higher-risk pediatric patients with Idiopathic and Heritable Pulmonary Arterial Hypertension. The Canadian journal of cardiology 2023 11 . Yuan He, Qiangqiang Li, Chen Zhang, Bradley B Keller, Hong |
Case report: Pathological differences in pulmonary arterial hypertension in long-term responders to calcium channel blockers. Frontiers in cardiovascular medicine 2023 11 10 1295718. Yuichi Tamura, Sayamaa Lkhagvadorj, Yudai Tamura, Asuka Furukawa, Shinsuke Aida, Hirotoshi Ebinuma, Takayuki Shio |
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with Phenylketonuria. Iranian biomedical journal 2023 1 27 (1): 46-57. Namdar Aligoodarzi Pegah, Rostami Golale, Kazemi Nezhad Seyed Reza, Hamid Mohamm |
Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children. Pediatric radiology 2024 1 . Helio V Neves da Silva, Jason P Weinman, Erin K Englund, Robin R Deterding, Dunbar D Ivy, Lorna P Brow |
Germline and Somatic Mutations in DNA Methyltransferase 3A (DNMT3A) Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice: Implications for Associated PAH. medRxiv : the preprint server for health sciences 2024 1 . Ruaa Al-Qazazi, Isaac M Emon, François Potus, Ashley Y Martin, Patricia D A Lima, Caitlyn Vlasschaert, Kuang-Hueih Chen, Danchen Wu, Asish Das Gupta, Curtis Noordhof, Lindsay Jefferson, Amy J M McNaughton, Alexander G Bick, Michael W Pauciulo, William C Nichols, Wendy K Chung, Paul M Hassoun, Rachel L Damico, Michael J Rauh, Stephen L Arch |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: