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Items: 1 to 20 of 337

1.
Genetic Anticipation and Abnormal Gender Ratio at Birth in Familial Primary Pulmonary Hypertension
JAMES E. LOYD, MERLIN G. BUTLER, TATIANA M. FOROUD, P. MICHAEL CONNEALLY, JOHN A. PHILLIPS, III, JOHN H. NEWMAN
Am J Respir Crit Care Med. Author manuscript; available in PMC 2018 Jul 31.
Published in final edited form as: Am J Respir Crit Care Med. 1995 Jul; 152(1): 93–97. doi: 10.1164/ajrccm.152.1.7599869
PMCID:
PMC6067924
AbstractArticlePDF–769K
2.
Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor–II Gene
Zemin Deng, Jane H. Morse, Susan L. Slager, Nieves Cuervo, Keith J. Moore, George Venetos, Sergey Kalachikov, Eftihia Cayanis, Stuart G. Fischer, Robyn J. Barst, Susan E. Hodge, James A. Knowles
Am J Hum Genet. 2000 Sep; 67(3): 737–744. Published online 2000 Jul 20. doi: 10.1086/303059
PMCID:
PMC1287532
AbstractArticlePDF–230K
3.
Early identification of SOX17 deficiency in infants to guide management of heritable pulmonary arterial hypertension using PDA stent to create reverse Potts shunt physiology
Heidi Ostler, Carolyn Fall, Howaida El‐Said, Henri Justino, Shylah Haldeman, Jeanne Carroll, Rohit Rao
Pulm Circ. 2024 Apr; 14(2): e12366. Published online 2024 Apr 22. doi: 10.1002/pul2.12366
PMCID:
PMC11035901
AbstractArticlePDF–399K
4.
Heritable Pulmonary Arterial Hypertension in a Patient With Empty Sella Syndrome: A Case Report
Bader Alghamdi, Shahad Aljuhani, Ghaday Alansari, Nouf M BinHumaid, Abdulkareem Alkahtani
Cureus. 2024 Feb; 16(2): e54632. Published online 2024 Feb 21. doi: 10.7759/cureus.54632
PMCID:
PMC10959505
AbstractArticlePDF–150K
5.
BMPR2 mutation and clinical response to imatinib in a case of heritable pulmonary arterial hypertension
Shine Kumar, Lalitha Biswas, Anju Choorakottayil Pushkaran, Raman Krishna Kumar
Pulm Circ. 2024 Jan; 14(1): e12335. Published online 2024 Jan 10. doi: 10.1002/pul2.12335
PMCID:
PMC10782117
AbstractArticlePDF–711K
6.
Long Term Survival of Heritable Pulmonary Arterial Hypertension Associated with Hereditary Hemorrhagic Telangiectasia: A Case Series
Parth Jamindar, Michael Pope, James Gossage
J Clin Med. 2024 Jan; 13(1): 141. Published online 2023 Dec 27. doi: 10.3390/jcm13010141
PMCID:
PMC10780235
AbstractArticlePDF–515K
7.
Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience
Maki Ishizuka, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D. Coleman, Dolores H. Lopez-Terrada, Daniel J. Penny, Yuxin Fan, Nidhy P. Varghese
Front Pediatr. 2023; 11: 1050706. Published online 2023 Mar 29. doi: 10.3389/fped.2023.1050706
PMCID:
PMC10090688
AbstractArticlePDF–220K
8.
A cluster of heritable pulmonary arterial hypertension cases in a family with all three siblings carrying the same novel AQP1 c.273C>G variant‐a case report
Kae‐Woei Liang, Sheng‐Kai Chang, Yu‐Wei Chen, Wan‐Jane Tsai, Kuo‐Yang Wang
Pulm Circ. 2023 Apr; 13(2): e12211. Published online 2023 Apr 1. doi: 10.1002/pul2.12211
PMCID:
PMC10064854
AbstractArticlePDF–2.2M
9.
Association between Genotype, Presentation, and Outcome in Childhood Idiopathic and Hereditary Pulmonary Arterial Hypertension
Zhuoyuan Xu, Hongsheng Zhang, Chen Zhang, Qiangqiang Li, Hong Gu
J Clin Med. 2022 Dec; 11(24): 7331. Published online 2022 Dec 9. doi: 10.3390/jcm11247331
PMCID:
PMC9783670
AbstractArticlePDF–875K
10.
TGF‐β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension
Xinyu Zhang, Chen Zhang, Qiangqiang Li, Hong Gu
Pulm Circ. 2022 Apr; 12(2): e12076. Published online 2022 Apr 22. doi: 10.1002/pul2.12076
PMCID:
PMC9063954
AbstractArticlePDF–805K
11.
Mate-pair sequencing identifies a cryptic BMPR2 mutation in hereditary pulmonary arterial hypertension
Sarah J. Chalmers, Stephen J. Murphy, Laura L. Thompson, Nicole L. Hoppman, James B. Smadbeck, Jessica R. Balcom, Faye R. Harris, Robert P. Frantz, George Vasmatzis, Mark E. Wylam
Pulm Circ. 2020 Jul-Sep; 10(3): 2045894020933081. Published online 2021 Jul 12. doi: 10.1177/2045894020933081
PMCID:
PMC8278463
AbstractArticlePDF–400K
12.
＜Editors’ Choice＞
Differential effects of combination therapy on the components of the risk stratification table in patients with idiopathic or heritable pulmonary arterial hypertension in a Japanese population
Masahiro Yoshida, Shiro Adachi, Ryo Imai, Shigetake Shimokata, Yoshihisa Nakano, Toyoaki Murohara, Takahisa Kondo
Nagoya J Med Sci. 2021 May; 83(2): 321–330. doi: 10.18999/nagjms.83.2.321
PMCID:
PMC8236678
AbstractArticlePDF–1.0M
13.
Heritable pulmonary arterial hypertension complicated by multiple pulmonary arteriovenous malformations
Takahiro Arano, Takuro Imamoto, Rika Suda, Hajime Kasai, Toshihiko Sugiura, Ayako Shigeta, Keiko Yamamoto, Jun Nagata, Seiichiro Sakao, Nobuhiro Tanabe, Koichiro Tatsumi
Respir Med Case Rep. 2021; 32: 101352. Published online 2021 Jan 19. doi: 10.1016/j.rmcr.2021.101352
PMCID:
PMC7841351
AbstractArticlePDF–2.7M
14.
A novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia: A case report
Fanhao Ye, Wenbing Jiang, Wei Lin, Yi Wang, Hao Chen, He Zou, Shiwei Huang, Ning Zhu, Sisi Han
Medicine (Baltimore) 2020 Jul 31; 99(31): e21342. Published online 2020 Jul 31. doi: 10.1097/MD.0000000000021342
PMCID:
PMC7402743
AbstractArticlePDF–308K
15.
A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype
Ifeoma Oriaku, Mallory N. LeSieur, William C. Nichols, Roberto Barrios, C. Gregory Elliott, Adaani Frost
Pulm Circ. 2020 Jul-Sep; 10(3): 2045894020931315. Published online 2020 Jun 3. doi: 10.1177/2045894020931315
PMCID:
PMC7273341
AbstractArticlePDF–642K
16.
Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension
Ossama K. Abou Hassan, Wiam Haidar, Mariam Arabi, Hadi Skouri, Fadi Bitar, Georges Nemer, Imad Bou Akl
BMC Med Genet. 2019; 20: 176. Published online 2019 Nov 11. doi: 10.1186/s12881-019-0915-7
PMCID:
PMC6849225
AbstractArticlePDF–2.6M
17.
A Nationwide multicenter registry and biobank program for deep phenotyping of idiopathic and hereditary pulmonary arterial hypertension in Korea: the PAH platform for deep phenotyping in Korean subjects (PHOENIKS) cohort
Albert Youngwoo Jang, Sungseek Kim, Su Jung Park, Hanul Choi, Pyung Chun Oh, Seyeon Oh, Kyung-Hee Kim, Kye Hun Kim, Kyunghee Byun, Wook-Jin Chung, for the PHOENIKS Investigators
Clin Hypertens. 2019; 25: 21. Published online 2019 Sep 15. doi: 10.1186/s40885-019-0126-8
PMCID:
PMC6745060
AbstractArticlePDF–562K
18.
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension
Chiara Barozzi, Margherita Galletti, Luciana Tomasi, Sara De Fanti, Massimiliano Palazzini, Alessandra Manes, Marco Sazzini, Nazzareno Galiè
Sci Rep. 2019; 9: 753. Published online 2019 Jan 24. doi: 10.1038/s41598-018-37277-0
PMCID:
PMC6345742
AbstractArticlePDF–1.0M
19.
Factors Associated with Heritable Pulmonary Arterial Hypertension Exert Convergent Actions on the miR-130/301-Vascular Matrix Feedback Loop
Thomas Bertero, Adam L. Handen, Stephen Y. Chan
Int J Mol Sci. 2018 Aug; 19(8): 2289. Published online 2018 Aug 4. doi: 10.3390/ijms19082289
PMCID:
PMC6121519
AbstractArticlePDF–20M
20.
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen M. Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Micheala Aldred, Harm J. Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrea Olschewski, Horst Olschewski, Andrew J. Peacock, Joanna Pepke-Zaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Dan F. Stein, Jay Suntharalingam, Emilia M. Swietlik, Mark R. Toshner, David A. van Heel, Anton Vonk Noordegraaf, Quinten Waisfisz, John Wharton, Stephen J. Wort, Willem H. Ouwehand, Nicole Soranzo, Allan Lawrie, Paul D. Upton, Martin R. Wilkins, Richard C. Trembath, Nicholas W. Morrell
Nat Commun. 2018; 9: 1416. Published online 2018 Apr 12. doi: 10.1038/s41467-018-03672-4
PMCID:
PMC5897357
AbstractArticlePDF–7.2M

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