These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases. Eyries M; Montani D; Nadaud S; Girerd B; Levy M; Bourdin A; Trésorier R; Chaouat A; Cottin V; Sanfiorenzo C; Prevot G; Reynaud-Gaubert M; Dromer C; Houeijeh A; Nguyen K; Coulet F; Bonnet D; Humbert M; Soubrier F Eur Respir J; 2019 Mar; 53(3):. PubMed ID: 30578383 [TBL] [Abstract][Full Text] [Related]
4. Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants. Zeng Q; Yang H; Liu B; Ma Y; Liu Z; Chen Q; Li W; Luo Q; Zhao Z; Zhou Z; Xiong C BMC Pulm Med; 2020 May; 20(1):150. PubMed ID: 32471403 [TBL] [Abstract][Full Text] [Related]
5. Genetic counselling in a national referral centre for pulmonary hypertension. Girerd B; Montani D; Jaïs X; Eyries M; Yaici A; Sztrymf B; Savale L; Parent F; Coulet F; Godinas L; Lau EM; Tamura Y; Sitbon O; Soubrier F; Simonneau G; Humbert M Eur Respir J; 2016 Feb; 47(2):541-52. PubMed ID: 26699722 [TBL] [Abstract][Full Text] [Related]
6. Phenotypic Characterization of Hadinnapola C; Bleda M; Haimel M; Screaton N; Swift A; Dorfmüller P; Preston SD; Southwood M; Hernandez-Sanchez J; Martin J; Treacy C; Yates K; Bogaard H; Church C; Coghlan G; Condliffe R; Corris PA; Gibbs S; Girerd B; Holden S; Humbert M; Kiely DG; Lawrie A; Machado R; MacKenzie Ross R; Moledina S; Montani D; Newnham M; Peacock A; Pepke-Zaba J; Rayner-Matthews P; Shamardina O; Soubrier F; Southgate L; Suntharalingam J; Toshner M; Trembath R; Vonk Noordegraaf A; Wilkins MR; Wort SJ; Wharton J; ; Gräf S; Morrell NW Circulation; 2017 Nov; 136(21):2022-2033. PubMed ID: 28972005 [TBL] [Abstract][Full Text] [Related]
7. Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients. Yang H; Zeng Q; Ma Y; Liu B; Chen Q; Li W; Xiong C; Zhou Z Respir Res; 2018 May; 19(1):87. PubMed ID: 29743074 [TBL] [Abstract][Full Text] [Related]
8. Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension. Eichstaedt CA; Saßmannshausen Z; Shaukat M; Cao D; Xanthouli P; Gall H; Sommer N; Ghofrani HA; Seyfarth HJ; Lerche M; Halank M; Kleymann J; Benjamin N; Harutyunova S; Egenlauf B; Milger K; Rosenkranz S; Ewert R; Klose H; Hoeper MM; Olsson KM; Lankeit M; Lange TJ; Hinderhofer K; Grünig E Respir Res; 2022 Mar; 23(1):74. PubMed ID: 35346192 [TBL] [Abstract][Full Text] [Related]
9. Genetic analyses in a cohort of children with pulmonary hypertension. Levy M; Eyries M; Szezepanski I; Ladouceur M; Nadaud S; Bonnet D; Soubrier F Eur Respir J; 2016 Oct; 48(4):1118-1126. PubMed ID: 27587546 [TBL] [Abstract][Full Text] [Related]
10. Pulmonary vascular remodeling patterns and expression of general control nonderepressible 2 (GCN2) in pulmonary veno-occlusive disease. Nossent EJ; Antigny F; Montani D; Bogaard HJ; Ghigna MR; Lambert M; Thomas de Montpréville V; Girerd B; Jaïs X; Savale L; Mercier O; Fadel E; Soubrier F; Sitbon O; Simonneau G; Vonk Noordegraaf A; Humbert M; Perros F; Dorfmüller P J Heart Lung Transplant; 2018 May; 37(5):647-655. PubMed ID: 29108819 [TBL] [Abstract][Full Text] [Related]
11. Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants. Wang MT; Weng KP; Chang SK; Huang WC; Chen LW Int J Mol Sci; 2024 Feb; 25(5):. PubMed ID: 38473983 [TBL] [Abstract][Full Text] [Related]
12. Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study. Montani D; Girerd B; Jaïs X; Levy M; Amar D; Savale L; Dorfmüller P; Seferian A; Lau EM; Eyries M; Le Pavec J; Parent F; Bonnet D; Soubrier F; Fadel E; Sitbon O; Simonneau G; Humbert M Lancet Respir Med; 2017 Feb; 5(2):125-134. PubMed ID: 28087362 [TBL] [Abstract][Full Text] [Related]
13. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Zhu N; Swietlik EM; Welch CL; Pauciulo MW; Hagen JJ; Zhou X; Guo Y; Karten J; Pandya D; Tilly T; Lutz KA; Martin JM; Treacy CM; Rosenzweig EB; Krishnan U; Coleman AW; Gonzaga-Jauregui C; Lawrie A; Trembath RC; Wilkins MR; ; ; ; ; Morrell NW; Shen Y; Gräf S; Nichols WC; Chung WK Genome Med; 2021 May; 13(1):80. PubMed ID: 33971972 [TBL] [Abstract][Full Text] [Related]
14. Unique wreath-like smooth muscle proliferation of the pulmonary vasculature in pulmonary veno-occlusive disease versus pulmonary arterial hypertension. Lai YJ; Chen PR; Huang YL; Hsu HH J Formos Med Assoc; 2020 Jan; 119(1 Pt 2):300-309. PubMed ID: 31202500 [TBL] [Abstract][Full Text] [Related]
15. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension. Welch CL; Aldred MA; Balachandar S; Dooijes D; Eichstaedt CA; Gräf S; Houweling AC; Machado RD; Pandya D; Prapa M; Shaukat M; Southgate L; Tenorio-Castano J; ; Chung WK; Genet Med; 2023 Nov; 25(11):100925. PubMed ID: 37422716 [TBL] [Abstract][Full Text] [Related]
16. EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension. Eichstaedt CA; Song J; Benjamin N; Harutyunova S; Fischer C; Grünig E; Hinderhofer K Respir Res; 2016 Nov; 17(1):141. PubMed ID: 27809840 [TBL] [Abstract][Full Text] [Related]
17. Good response to pulmonary arterial hypertension-targeted therapy in 2 pulmonary veno-occlusive disease patients: A case report. Zhang L; Wang Y; Zhang R Medicine (Baltimore); 2021 Oct; 100(41):e27334. PubMed ID: 34731104 [TBL] [Abstract][Full Text] [Related]
18. EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension. Best DH; Sumner KL; Smith BP; Damjanovich-Colmenares K; Nakayama I; Brown LM; Ha Y; Paul E; Morris A; Jama MA; Dodson MW; Bayrak-Toydemir P; Elliott CG Chest; 2017 Apr; 151(4):821-828. PubMed ID: 27884767 [TBL] [Abstract][Full Text] [Related]
19. Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. Zhu N; Gonzaga-Jauregui C; Welch CL; Ma L; Qi H; King AK; Krishnan U; Rosenzweig EB; Ivy DD; Austin ED; Hamid R; Nichols WC; Pauciulo MW; Lutz KA; Sawle A; Reid JG; Overton JD; Baras A; Dewey F; Shen Y; Chung WK Circ Genom Precis Med; 2018 Apr; 11(4):e001887. PubMed ID: 29631995 [TBL] [Abstract][Full Text] [Related]