Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 99 Records) |
Query Trace: Hypertension and Bmpr2[original query] |
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Genotypes and Phenotypes of Chinese Pediatric Patients With Idiopathic and Heritable Pulmonary Arterial Hypertension-A Single-Center Study. The Canadian journal of cardiology 2019 12 35 (12): 1851-1856. Zhang Hong-Sheng, Liu Qian, Piao Chun-Mei, Zhu Yan, Li Qiang-Qiang, Du Jie, Gu Ho |
Prevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort. PloS one 2020 9 15 (9): e0238698. Jang Albert Youngwoo, Kim Bo-Gyeong, Kwon Sunkoo, Seo Jiyoung, Kim Hyung Kwan, Chang Hyuk-Jae, Chang Sung-A, Cho Goo-Yeong, Rhee Sang Jae, Jung Hae Ok, Kim Kyung-Hee, Seo Hye Sun, Kim Kye Hun, Shin Jinho, Lee Jun Soo, Kim Minsu, Lee Young Jae, Chung Wook-J |
The features of rare pathogenic BMPR2 variants in pulmonary arterial hypertension: Comparison between patients and reference population. International journal of cardiology 2020 Jul . Lyu Zi-Chao, Wang Lan, Lin Jian-Hui, Li Su-Qi, Wu Dan-Chen, Lian Tian-Yu, Liu Shao-Fei, Ye Jue, Jiang Xin, Wang Xiao-Jian, Jing Zhi-Che |
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension. The Journal of pediatrics 2020 Jun . Haarman Meindina G, Kerstjens-Frederikse Wilhelmina S, Vissia-Kazemier Theresia R, Breeman Karel T N, Timens Wim, Vos Yvonne J, Roofthooft Marc T R, Hillege Hans L, Berger Rolf M |
Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants. BMC pulmonary medicine 2020 5 20 (1): 150. Zeng Qixian, Yang Hang, Liu Bingyang, Ma Yanyun, Liu Zhihong, Chen Qianlong, Li Wenke, Luo Qin, Zhao Zhihui, Zhou Zhou, Xiong Changmi |
Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension-A Genetic Study. International journal of molecular sciences 2020 May 21 (9): . Eichstaedt Christina A, Verweyen Jeremias, Halank Michael, Benjamin Nicola, Fischer Christine, Mayer Eckhard, Guth Stefan, Wiedenroth Christoph B, Egenlauf Benjamin, Harutyunova Satenik, Xanthouli Panagiota, Marra Alberto M, Wilkens Heinrike, Ewert Ralf, Hinderhofer Katrin, Grünig Ekkeha |
Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension. JAMA cardiology 2020 Apr . Wang Xiao-Jian, Xu Xi-Qi, Sun Kai, Liu Ke-Qiang, Li Su-Qi, Jiang Xin, Zhao Qin-Hua, Wang Lan, Peng Fu-Hua, Ye Jue, Wu Yan, Jiang Rui, Zhang Jin, Huang Wei, Wei Wen-Bin, Yan Yi, Li Jing-Hui, Liu Qian-Qian, Li Sheng, Wang Yong, Zhang Shu-Yang, Zhang Xue, Jing Zhi-Che |
Comprehensive identification of signaling pathways for idiopathic pulmonary arterial hypertension. American journal of physiology. Cell physiology 2020 3 318 (5): C913-C930. Liu Bingxun, Zhu Liping, Yuan Ping, Marsboom Glenn, Hong Zhigang, Liu Jinming, Zhang Peng, Hu Qingh |
Correlation Between Single Nucleotide Polymorphisms of the rs664589 Locus in the Long-Chain Noncoding RNA Lung Adenocarcinoma Metastasis-Associated Gene 1, Hypertension, and Its Mechanism. Genetic testing and molecular biomarkers 2020 Feb . Mou Xianyu, Wang Jinglin, Wang Lei, Wang Shum |
SCUBE1 Controls BMPR2-Relevant Pulmonary Endothelial Function: Implications for Diagnostic Marker Development in Pulmonary Arterial Hypertension. JACC. Basic to translational science 2020 12 5 (11): 1073-1092. Sun Wei, Tang Ying, Tai Yi-Yin, Handen Adam, Zhao Jingsi, Speyer Gil, Al Aaraj Yassmin, Watson Annie, Romanelli Makenna E, Sembrat John, Rojas Mauricio, Simon Marc A, Zhang Yingze, Lee Janet, Xiong Zeyu, Dutta Partha, Vasamsetti Sathish Badu, McNamara Dennis, McVerry Bryan, McTiernan Charles F, Sciurba Frank C, Kim Seungchan, Smith Kerri Akaya, Mazurek Jeremy A, Han Yuchi, Vaidya Anjali, Nouraie Seyed Mehdi, Kelly Neil J, Chan Stephen |
Alteration of Extracellular Superoxide Dismutase in Idiopathic Pulmonary Arterial Hypertension. Frontiers in medicine 2020 12 7 509. Zhang Rui, Wang Lan, Zhao Qin-Hua, Jiang Rong, Gong Su-Gang, Jiang Xin, Xu Xi-Qi, He Yang-Yang, Li Yuan, Jing Zhi-Che |
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clinical genetics 2020 12 99 (4): 547-557. Zarate Yuri A, Bosanko Katherine A, Thomas Mary Ann, Miller David T, Cusmano-Ozog Kristina, Martinez-Monseny Antonio, Curry Cynthia J, Graham John M, Velsher Lea, Bekheirnia Mir Reza, Seidel Veronica, Dedousis Demitrios, Mitchell Anna L, DiMarino Amy M, Riess Angelika, Balasubramanian Meena, Fish Jennifer L, Caffrey Aisling R, Fleischer Nicole, Pierson Tyler Mark, Lacro Ronald |
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation. The European respiratory journal 2020 12 58 (1): . Montani David, Girerd Barbara, Jaïs Xavier, Laveneziana Pierantonio, Lau Edmund M T, Bouchachi Amir, Hascoët Sébastien, Günther Sven, Godinas Laurent, Parent Florence, Guignabert Christophe, Beurnier Antoine, Chemla Denis, Hervé Philippe, Eyries Mélanie, Soubrier Florent, Simonneau Gérald, Sitbon Olivier, Savale Laurent, Humbert Ma |
Prognostic Value of Gamma-Glutamyltransferase in Male Patients With Idiopathic Pulmonary Arterial Hypertension. Frontiers in cardiovascular medicine 2020 11 7 580908. Lu Gang-Hua, Gong Su-Gang, Li Chao, Zhao Qin-Hua, Jiang Rong, Luo Ci-Jun, Wang Lan, Zhang R |
Genes that drive the pathobiology of pediatric pulmonary arterial hypertension. Pediatric pulmonology 2020 1 56 (3): 614-620. Welch Carrie L, Austin Eric D, Chung Wendy |
Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension. Frontiers in cardiovascular medicine 2021 9 8 711694. Takashima Tomoya, Brisset Sophie, Furukawa Asuka, Taniguchi Hirohisa, Takeyasu Rika, Kawamura Akio, Tamura Yuic |
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 |
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome medicine 2021 May 13 (1): 80. Zhu Na, Swietlik Emilia M, Welch Carrie L, Pauciulo Michael W, Hagen Jacob J, Zhou Xueya, Guo Yicheng, Karten Johannes, Pandya Divya, Tilly Tobias, Lutz Katie A, Martin Jennifer M, Treacy Carmen M, Rosenzweig Erika B, Krishnan Usha, Coleman Anna W, Gonzaga-Jauregui Claudia, Lawrie Allan, Trembath Richard C, Wilkins Martin R, , , , , Morrell Nicholas W, Shen Yufeng, Gräf Stefan, Nichols William C, Chung Wendy |
Pulmonary arterial hypertension-associated genetic variants in combined post-capillary and pre-capillary pulmonary hypertension: a case report. Pulmonary circulation 2021 3 11 (1): 2045894021996571. L Chomette, S Caravita, C Dewachter, M Abramowicz, Jl Vachiery, Antoine Bond |
Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations. Pulmonary circulation 2021 12 11 (4): 20458940211044577. Zhang Xinyu, Zhang Chen, Li Qiangqiang, Piao Chunmei, Zhang Hongsheng, Gu Ho |
Identification of a novel mutation in the BMPR2 gene in a pulmonary arterial hypertension patient using next-generation sequencing. Journal of clinical laboratory analysis 2021 12 36 (2): e24183. Xu Xiao, Wang Xin, Yang Guo-Can, Liu |
Gene Mutation Annotation and Pedigree for Pulmonary Arterial Hypertension Patients in Han Chinese Patients. Global heart 2021 12 16 (1): 70. Wang Mei-Tzu, Charng Ming-Ji, Chi Pei-Ling, Cheng Chin-Chang, Hung Cheng Chung, Huang Wei-Ch |
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 |
Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study. Jornal de pediatria 2021 Oct . Nakwan Narongsak, Mahasirimongkol Surakameth, Satproedprai Nusara, Chaiyasung Tassamonwan, Kunhapan Punna, Charoenlap Cheep, Singkhamanan Kamonnut, Charalsawadi Chariyaw |
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, , , |
Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan. Frontiers in cardiovascular medicine 2022 9 911649. Liang Kae-Woei, Chang Sheng-Kai, Chen Yu-Wei, Lin Wei-Wen, Tsai Wan-Jane, Wang Kuo-Ya |
Is iron deficiency caused by BMPR2 mutations or dysfunction in pulmonary arterial hypertension patients? Pulmonary circulation 2023 6 13 (2): e12242. Vivienne Theobald, Ekkehard Grünig, Nicola Benjamin, Hans-Jürgen Seyfarth, Michael Halank, Marc A Schneider, Sarah Richtmann, Daniel Kazdal, Katrin Hinderhofer, Panagiota Xanthouli, Benjamin Egenlauf, Satenik Harutyunova, Marius M Hoeper, Danny Jonigk, Richard Sparla, Martina U Muckenthaler, Christina A Eichstae |
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 |
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 |
Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension. The European respiratory journal 2024 7 . Eszter N Tóth, Lucas R Celant, Marili Niglas, Samara Jansen, Jelco Tramper, Nicoleta Baxan, Ali Ashek, Jeroen N Wessels, J Tim Marcus, Lilian J Meijboom, Arjan C Houweling, Esther J Nossent, Jurjan Aman, Julien Grynblat, Frédéric Perros, David Montani, Anton Vonk Noordegraaf, Lan Zhao, Frances S de Man, Harm Jan Bogaa |
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