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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. [PDF]
, 2016 BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 (BMPR2) are the commonest genetic cause of PAH, whereas ...Charaka Hadinnapola, Marta Bleda, Matthias Haimel, Nicholas Screaton, Andrew Swift, Peter Dorfmüller, Stephen D. Preston, Mark Southwood, Jules Hernandez-Sanchez, Jennifer Martin, Carmen Treacy, Katherine Yates, Harm Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Simon Gibbs, Barbara Girerd, Simon Holden, Marc Humbert, David G. Kiely, Allan Lawrie, Rajiv Machado, Robert MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrew Peacock, Joanna Pepke-Zaba, Paula Rayner-Matthews, Olga Shamardina, Florent Soubrier, Laura Southgate, Jay Suntharalingam, Mark Toshner, Richard Trembath, Anton Vonk Noordegraaf, Martin R. Wilkins, Stephen J. Wort, John Wharton, Stefan Gräf, Nicholas W. Morrell, Timothy Aitman, David Bennett, Mark Caulfield, Patrick Chinnery, Daniel Gale, Ania Koziell, Taco W Kuijpers, Michael A Laffan, Eamonn Maher, Hugh S Markus, Willem H Ouwehand, David Perry, F Lucy Raymond, Irene Roberts, Kenneth Smith, Adrian Thrasher, Hugh Watkins, Catherine Williamson, Geoffrey Woods, Sofie Ashford, John R Bradley, Debra Fletcher, Tracey Hammerton, Roger James, Nathalie Kingston, Willem H Ouwehand, Christopher J Penkett, F Lucy Raymond, Kathleen Stirrups, Marijke Veltman, Tim Young, Sofie Ashford, Matthew Brown, Naomi Clements-Brod, John Davis, Eleanor Dewhurst, Marie Erwood, Amy Frary, Rachel Linger, Sofia Papadia, Karola Rehnstrom, Hannah Stark, David Allsup, Steve Austin, Tamam Bakchoul, Tadbir K Bariana, Paula Bolton-Maggs, Elizabeth Chalmers, Peter Collins, Wendy N Erber, Tamara Everington, Remi Favier, Kathleen Freson, Bruce Furie, Michael Gattens, Keith Gomez, Daniel Greene, Andreas Greinacher, Daniel Hart, Johan WM Heemskerk, Yvonne Henskens, Rashid Kazmi, David Keeling, Anne M Kelly, Michael A Laffan, Michele P Lambert, Claire Lentaigne, Ri Liesner, Sarah Mangles, Mary Mathias, Carolyn M Millar, Andrew Mumford, Paquita Nurden, Willem H Ouwehand, Sofia Papadia, Jeanette Payne, John Pasi, David J Perry, Kathelijne Peerlinck, Michael Richards, Matthew Rondina, Catherine Roughley, Sol Schulman, Harald Schulze, Marie Scully, Suthesh Sivapalaratnam, R Campbell Tait, Kate Talks, Jecko Thachil, Ernest Turro, Cheng-Hock Toh, Chris Van Geet, Minka De Vries, Timothy Q Warner, Sarah Westbury, Abigail Furnell, Rutendo Mapeta, Ilenia Simeoni, Simon Staines, Jonathan Stephens, Kathleen Stirrups, Deborah Whitehorn, Christopher Watt, Antony Attwood, Louise Daugherty, Sri VV Deevi, Csaba Halmagyi, Fengyuan Hu, Roger James, Vera Matser, Stuart Meacham, Karyn Megy, Christopher J Penkett, Kathleen Stirrups, Catherine Titterton, Salih Tuna, Ping Yu, Julie von Ziegenweldt, William Astle, Keren Carss, Daniel Greene, Hana Lango-Allen, Ernest Turro, William Astle, Daniel Greene, Sylvia Richardson, Ernest Turro, Paul Calleja, Stuart Rankin, Wojciech Turek, Christine Bryson, Julie Anderson, Debra Fletcher, Coleen McJannet, Sophie Stock, Tim Young, Evangeline Wassmer, Aman Sohal, Saikat Santra, Julie Vogt, Manali Chitre, Deepa Krishnakumar, Gautum Ambegaonkar, Anna Maw, Ruth Armstrong, Soo-Mi Park, Sarju Mehta, Joan Paterson, Jenny Carmichael, Louise Allen, Anke Hensiek, Helen Firth, Penelope Stein, Patrick Deegan, Rainer Doffinger, Alasdair Parker, Maria Bitner-Glindzicz, Richard Scott, Jane Hurst, Elisabeth Rosser, Melissa Lees, Emma Clement, Robert Henderson, Dorothy Thompson, Alice Gardham, Paul Gissen, Dragana Josifova, Ellen Thomas, Chris Patch, Charu Deshpande, Frances Flinter, Muriel Holder, Natalie Canham, Emma Wakeling, Susan Holder, Neeti Ghali, Angie Brady, Virginia Clowes, Robert MacLaren, Andrew Webster, Anthony Moore, Gavin Arno, Michel Michaelides, Julia Rankin, Manju Kurian, Elaine Murphy, Keren Carss, Alba Sanchis-Juan, Marie Erwood, Eleanor Dewhurst, Detelina Grozeva, F Lucy Raymond, Evan Reid, Geoff Woods, Marc Tischkowitz, Richard Sandford, Sonia Ali, Amanda Creaser-Myers, Victoria Cookson, Rosa DaCosta, Natalie Dormand, Pavandeep K Ghataorhe, Alan Greenhalgh, Anna Huis in’t Veld, Fiona Kennedy, Rob Mackenzie Ross, Larahmie Masati, Sharon Meehan, Shokri Othman, Val Pollock, Gary Polwarth, Christopher J Rhodes, Kevin Rue-Albrecht, Gwen Schotte, Debbie Shipley, Yvonne Tan, Ivy Wanjiku, John Wort, Kenneth Smith, Taco Kuijpers, Adrian Thrasher, James Thaventhiran, Matthew Brown, Hana Lango Allen, Ilenia Simeoni, Emily Staples, Crina Samarghitean, Hana Alachkar, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen Baxendale, Claire Bethune, Shahnaz Bibi, Claire Booth, Michael Browning, Siobhan Burns, Anita Chandra, Nichola Cooper, Sophie Davies, Lisa Devlin, Rainer Doffinger, Elizabeth Drewe, David Edgar, William Egner, Rohit Ghurye, Kimberley Gilmour, Sarah Goddard, Pavel Gordins, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Grant Hayman, Archana Herwadkar, Aarnoud Huissoon, Stephen Jolles, Peter Kelleher, Dinakantha Kumararatne, Sara Lear, Hilary Longhurst, Lorena Lorenzo, Jesmeen Maimaris, Ania Manson, Elizabeth McDermott, Sai Murng, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark Ponsford, Waseem Qasim, Isabella Quinti, Alex Richter, Ravishankar Sargur, Sinisa Savic, Suranjith Seneviratne, Carrock Sewell, Hans Stauss, Moira Thomas, Steve Welch, Lisa Willcocks, Nigel Yeatman, Patrick Yong, null null +325 morecore +28 more sourcesGenetic cause of pulmonary veno-occlusive disease [PDF]
Lung India, 2022 Pulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic Kaustubh Mohite, Anil Kumar Saparedoaj +2 more sourcesMitomycin induced pulmonary veno-occlusive disease [PDF]
Respiratory Medicine Case Reports, 2021 Pulmonary veno-occlusive disease (PVOD) is a rare but devastating cause of pulmonary hypertension (PH) characterized by preferential remodeling of the pulmonary venules.Mitomycin-C (MMC) is an alkylating agent commonly used in chemotherapy with ...Afua Kunadu, J. Stephen Stalls, Heloise Labuschagne, Abdullah Thayyil, Randall Falls, Veeranna Maddipati +5 moredoaj +2 more sourcesEfficacy and safety of oral pulmonary vasodilators in pulmonary veno‐occlusive disease [PDF]
Pulmonary Circulation, 2022 Pulmonary veno‐occlusive disease (PVOD) or pulmonary capillary hemangiomatosis (PCH) is a rare subtype of pulmonary hypertension with dismal prognosis.Junichi Nakamura, Ichizo Tsujino, Hideki Shima, Toshitaka Nakaya, Ayako Sugimoto, Takahiro Sato, Taku Watanabe, Hiroshi Ohira, Masaru Suzuki, Satonori Tsuneta, Ryo Hisada, Masaru Kato, Satoshi Konno +12 moredoaj +2 more sourcesPulmonary Veno-Occlusive Disease after Autologous Stem Cell Transplantation [PDF]
Case Reports in Oncology, 2023 Pulmonary veno-occlusive disease (PVOD) is an extremely rare condition in oncology practice. Although PVOD is clinically similar to pulmonary arterial hypertension, the conditions differ in terms of pathophysiology, management, and prognosis. This report Takashi Hamada, Hiromichi Takahashi, Masaru Nakagawa, Hironao Nukariya, Shun Ito, Toshihide Endo, Kazuya Kurihara, Takashi Koike, Kazuhide Iizuka, Shimon Ohtake, Takashi Ichinohe, Toshiya Maebayashi, Katsuhiro Miura, Yoshihiro Hatta, Hideki Nakamura +14 moredoaj +2 more sourcesPulmonary hypertension secondary to interstitial fibrosis with pulmonary venous lesions masquerading pulmonary veno‐occlusive disease [PDF]
Respirology Case Reports, 2023 We present a 41‐year‐old man with idiopathic interstitial pneumonia and pulmonary hypertension (PH) in the setting of a non‐autoimmune background whose clinical presentation masqueraded pulmonary veno‐occlusive disease (PVOD).Hiroki Nakayama, Masayuki Ishida, Hiroshi Nakaoka, Yuki Nishimura, Ryu‐ichirou Imai, Hiroki Sugane, Hayato Hosoda, Yoko Nakaoka, Koji Nishida, Shu‐ichi Seki, Sho‐ichi Kubokawa, Kazuya Kawai, Naohisa Hamashige, Yoshinori Doi +13 moredoaj +2 more sources