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First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease

Autor: Prapa, M., Lago-Docampo, M., Swietlik, E.M., Montani, D., Eyries, M., Humbert, M., Welch, C.C.L., Chung, W., Berger, R.M.F., Bogaard, H.J., Danhaive, O., Escribano-Subías, P., Gall, H., Girerd, B., Hernandez-Gonzalez, I., Holden, S., Hunt, D., Jansen, S.M.A., Kerstjens-Frederikse, W., Kiely, D., Lapunzina, P., McDermott, J., Moledina, S., Pepke-Zaba, J., Polwarth, G.J., Schotte, G., Tenorio-Castaño, J., Thompson, A.A.R., Wharton, J., Wort, S.J., Megy, K., Mapeta, R., Treacy, C.M., Martin, J.M., Li, W., Swift, A.J., Upton, P.D., Morrell, N.W., Gräf, S., Valverde, D.

Publikováno v: NIHR BioResource for Translational Research-Rare Diseases32, National Cohort Study of Idiopathic and Heritable PAH33 & PAH Biobank Enrolling Centers' Investigators33 2022, ' First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease ', American Journal of Respiratory and Critical Care Medicine, vol. 206, no. 12, pp. 1522-1533 . https://doi.org/10.1164/rccm.202203-0485OC
American Journal of Respiratory and Critical Care Medicine, 206(12), 1522-1533. AMER THORACIC SOC
American Journal of Respiratory and Critical Care Medicine, 206(12), 1522-1533. American Thoracic Society

Rationale: Despite the increased recognition of TBX4 (T-BOX transcription factor 4)-associated pulmonary arterial hypertension (PAH), genotype-phenotype associations are lacking and may provide important insights.Objectives: To compile and functional

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afc656dbcf7620d1c2092bf87ce2ec1c
https://research.vumc.nl/en/publications/e3d9ace5-5ec4-462f-93bb-ed63892953e4

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(158) - Impact of Preoperative Body Mass Index on Long-Term Survival and Functional Outcomes After Pulmonary Endarterectomy: Results from the UK National Cohort

Autor: Bunclark, K., Appenzeller, P., Ghani, H., Cannon, J., Taghavi, F., Ng, C., Tsui, S., Pepke-Zaba, J., Jenkins, D.

Publikováno v: In Journal of Heart and Lung Transplantation April 2024 43(4) Supplement:S85-S86