Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 151 Records) |
| Query Trace: Disease and PAH[original query] |
|---|
| Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population. Frontiers in genetics 2021 8 12 631688. Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R |
| Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population. Pulmonary circulation 2021 8 11 (3): 20458940211032057. Aldalaan Abdullah M, Ramzan Khushnooda, Saleemi Sarfraz A, Weheba Ihab, Alquait Laila, Abdelsayed Abeer, Alzubi Fatima, Zaytoun Hamdeia, Alharbi Nadeen, Al-Owain Mohammed, Imtiaz Fai |
| Association between prenatal polycyclic aromatic hydrocarbons and infantile allergic diseases modified by maternal glutathione S-transferase polymorphisms: results from the MOCEH birth cohort. Annals of occupational and environmental medicine 2021 33 e12. Koh Tai Kyung, Park Hyesook, Hong Yun-Chul, Ha Mina, Kim Yangho, Lee Bo-Eun, Shah Surabhi, Ha Eunh |
| Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort. Genes 2021 10 12 (10): . Jansen Samara M A, van de Heuvel Lieke M, Houweling Arjan C, van Tintelen J Peter, de Man Frances S, Vonk Noordegraaf Anton, Jan Bogaard Ha |
| 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 |
| First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease. American journal of respiratory and critical care medicine 2022 7 206 (12): 1522-1533. Prapa Matina, Lago-Docampo Mauro, Swietlik Emilia M, Montani David, Eyries Mélanie, Humbert Marc, Welch Carrie L, Chung Wendy K, Berger Rolf M F, Bogaard Harm Jan, Danhaive Olivier, Escribano-Subías Pilar, Gall Henning, Girerd Barbara, Hernandez-Gonzalez Ignacio, Holden Simon, Hunt David, Jansen Samara M A, Kerstjens-Frederikse Wilhelmina, Kiely David G, Lapunzina Pablo, McDermott John, Moledina Shahin, Pepke-Zaba Joanna, Polwarth Gary J, Schotte Gwen, Tenorio-Castaño Jair, Thompson A A Roger, Wharton John, Wort Stephen J, Megy Karyn, Mapeta Rutendo, Treacy Carmen M, Martin Jennifer M, Li Wei, Swift Andrew J, Upton Paul D, Morrell Nicholas W, Gräf Stefan, Valverde Diana, , , |
| Significance of Cyclooxgenase-2 gene polymorphism and related miRNAs in pulmonary arterial hypertension. Clinical biochemistry 2022 Jun . Durmus Sinem, Atahan Ersan, Avci Kilickiran Burcak, Onal Burak, Cakatay Ufuk, Gelisgen Remise, Uzun Hafi |
| Relation between endothelial nitric oxide synthase genetic polymorphisms and pulmonary arterial hypertension in newborns with congenital heart disease. Clinical and experimental hypertension (New York, N.Y. : 1993) 2022 Jun 1-6. Lin Qing-Fan, Rao Jing-Hong, Luo Shi-Mu, Wang Qing-Mu, Deng Li-Feng, Chen Xuan, Chen Chang-Di, Chen You-Fa |
| TET2 Variants in Japanese Patients With Pulmonary Arterial Hypertension. CJC open 2022 5 4 (4): 416-419. Hiraide Takahiro, Suzuki Hisato, Shinya Yoshiki, Momoi Mizuki, Inami Takumi, Katsumata Yoshinori, Fukuda Keiichi, Kosaki Kenjiro, Kataoka Masaha |
| Clinical, Serological, and Genetic Characteristics of a Hungarian Myositis-Scleroderma Overlap Cohort. BioMed research international 2022 2022 6251232. Szabó Katalin, Bodoki Levente, Nagy-Vincze Melinda, Béldi Tibor, Vincze Anett, Zilahi Erika, Varga József, Sz?cs Gabriella, Dankó Katalin, Griger Zolt |
| [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 |
| Common Variation in EDN1 Regulatory Regions Highlights the Role of PPAR? as a Key Regulator of Endothelin in vitro. Frontiers in cardiovascular medicine 2022 3 9 823133. Lago-Docampo Mauro, Solarat Carlos, Méndez-Martínez Luis, Baloira Adolfo, Valverde Dia |
| 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 |
| Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran. Clinical laboratory 2022 1 68 (1): . Hosseini Elaheh, Mousavi Seyed S, Zamanfar Daniel, Hashemi-Soteh S M Bagh |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Serum uric acid and pulmonary arterial hypertension: A two-sample Mendelian randomization study. Heart & lung : the journal of critical care 2024 9 68 337-341. Yingjie Tan, Yusi Chen, Tianyu Wang, Jiang |
| The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population. International journal of molecular sciences 2024 9 25 (17): . Grigoriy A Yanus, Evgeny N Suspitsin, Evgeny N Imyanit |
| Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants. International journal of preventive medicine 2024 8 15 22. Hossein Jalali, Daniel Zamanfar, Muhammad Amirzadegan, Farshide Ghadami, Mahan Mahdavi, Mohammad Reza Mahda |
| Resistin predicts disease severity and survival in patients with pulmonary arterial hypertension. Respiratory research 2024 6 25 (1): 235. Li Gao, John Skinner, Tanmay Nath, Qing Lin, Megan Griffiths, Rachel L Damico, Michael W Pauciulo, William C Nichols, Paul M Hassoun, Allen D Everett, Roger A Joh |
| Identifying the genetic association between rheumatoid arthritis and the risk of pulmonary arterial hypertension. Clinical rheumatology 2024 12 . Leilei Yang, Xiaoqin Wang, Bingjie Gu, Dinglei |
| SMAD5 as a novel gene for familial pulmonary arterial hypertension. Clinical science (London, England : 1979) 2024 12 . Ding Cao, Ekkehard Grünig, Yuriy Sirenko, Ganna Radchenko, Henning Gall, Ayat Ahmed, Susanne Theiß, Mareike Lankeit, Benjamin Meder, Magdalena Laugsch, Christina A Eichstae |
| 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
- Content source: