Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: GDF2[original query] |
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Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia. Human genome variation 2016 4 2 15040. Hernandez Felicia, Huether Robert, Carter Lester, Johnston Tami, Thompson Jennifer, Gossage James R, Chao Elizabeth, Elliott Aaron |
Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon. BMC medical genetics 2018 5 19 (1): 89. Abou Hassan Ossama K, Haidar Wiam, Nemer Georges, Skouri Hadi, Haddad Fadi, BouAkl Im |
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nature communications 2018 4 9 (1): 1416. Gräf Stefan, Haimel Matthias, Bleda Marta, Hadinnapola Charaka, Southgate Laura, Li Wei, Hodgson Joshua, Liu Bin, Salmon Richard M, Southwood Mark, Machado Rajiv D, Martin Jennifer M, Treacy Carmen M, Yates Katherine, Daugherty Louise C, Shamardina Olga, Whitehorn Deborah, Holden Simon, Aldred Micheala, Bogaard Harm J, Church Colin, Coghlan Gerry, Condliffe Robin, Corris Paul A, Danesino Cesare, Eyries Mélanie, Gall Henning, Ghio Stefano, Ghofrani Hossein-Ardeschir, Gibbs J Simon R, Girerd Barbara, Houweling Arjan C, Howard Luke, Humbert Marc, Kiely David G, Kovacs Gabor, MacKenzie Ross Robert V, Moledina Shahin, Montani David, Newnham Michael, Olschewski Andrea, Olschewski Horst, Peacock Andrew J, Pepke-Zaba Joanna, Prokopenko Inga, Rhodes Christopher J, Scelsi Laura, Seeger Werner, Soubrier Florent, Stein Dan F, Suntharalingam Jay, Swietlik Emilia M, Toshner Mark R, van Heel David A, Vonk Noordegraaf Anton, Waisfisz Quinten, Wharton John, Wort Stephen J, Ouwehand Willem H, Soranzo Nicole, Lawrie Allan, Upton Paul D, Wilkins Martin R, Trembath Richard C, Morrell Nicholas |
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome medicine 2019 Nov 11 (1): 69. Zhu Na, Pauciulo Michael W, Welch Carrie L, Lutz Katie A, Coleman Anna W, Gonzaga-Jauregui Claudia, Wang Jiayao, Grimes Joseph M, Martin Lisa J, He Hua, , Shen Yufeng, Chung Wendy K, Nichols William |
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension. American journal of respiratory and critical care medicine 2019 10 201 (5): 575-585. Hodgson Joshua, Swietlik Emilia M, Salmon Richard M, Hadinnapola Charaka, Nikolic Ivana, Wharton John, Guo Jingxu, Liley James, Haimel Matthias, Bleda Marta, Southgate Laura, Machado Rajiv D, Martin Jennifer M, Treacy Carmen M, Yates Katherine, Daugherty Louise C, Shamardina Olga, Whitehorn Deborah, Holden Simon, Bogaard Harm J, Church Colin, Coghlan Gerry, Condliffe Robin, Corris Paul A, Danesino Cesare, Eyries Mélanie, Gall Henning, Ghio Stefano, Ghofrani Hossein-Ardeschir, Gibbs J Simon R, Girerd Barbara, Houweling Arjan C, Howard Luke, Humbert Marc, Kiely David G, Kovacs Gabor, Lawrie Allan, MacKenzie Ross Robert V, Moledina Shahin, Montani David, Olschewski Andrea, Olschewski Horst, Ouwehand Willem H, Peacock Andrew J, Pepke-Zaba Joanna, Prokopenko Inga, Rhodes Christopher J, Scelsi Laura, Seeger Werner, Soubrier Florent, Suntharalingam Jay, Toshner Mark R, Trembath Richard C, Vonk Noordegraaf Anton, Wort Stephen J, Wilkins Martin R, Yu Paul B, Li Wei, Gräf Stefan, Upton Paul D, Morrell Nicholas |
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia. Orphanet journal of rare diseases 2020 9 15 (1): 254. Giraud Sophie, Bardel Claire, Dupuis-Girod Sophie, Carette Marie-France, Gilbert-Dussardier Brigitte, Riviere Sophie, Saurin Jean-Christophe, Eyries Mélanie, Patri Sylvie, Decullier Evelyne, Calender Alain, Lesca Gaët |
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 |
[Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2021 12 56 (12): 1307-1312. Song X Y, Yang Y J, Yao Y, Zhang Y, Song X |
Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. American journal of medical genetics. Part A 2021 12 188 (3): 959-964. Balachandar Srimmitha, Graves Tamara J, Shimonty Anika, Kerr Katie, Kilner Jill, Xiao Sihao, Slade Richard, Sroya Manveer, Alikian Mary, Curetean Emanuel, Thomas Ellen, McConnell Vivienne P M, McKee Shane, Boardman-Pretty Freya, Devereau Andrew, Fowler Tom A, Caulfield Mark J, Alton Eric W, Ferguson Teena, Redhead Julian, McKnight Amy J, Thomas Geraldine A, , Aldred Micheala A, Shovlin Claire |
Multiplex Protein Biomarker Profiling in Patients with Familial Hypercholesterolemia. Genes 2021 10 12 (10): . Dlouha Dana, Blaha Milan, Rohlova Eva, Hubacek Jaroslav A, Lanska Vera, Visek Jakub, Blaha Vladim |
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- Page last updated:Apr 22, 2024
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