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Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
Machado RD, Welch CL, Haimel M, Bleda M, Colglazier E, Coulson JD, Debeljak M, Ekstein J, Fineman JR, Golden WC, Griffin EL, Hadinnapola C, Harris MA, Hirsch Y, Hoover-Fong JE, Nogee L, Romer LH, Vesel S; NIHR Bioresource – Rare Diseases; Gräf S, Morrell NW, Southgate L, Chung WK. Machado RD, et al. Among authors: morrell nw. J Med Genet. 2022 Sep;59(9):906-911. doi: 10.1136/jmedgenet-2021-107831. Epub 2021 Sep 7. J Med Genet. 2022. PMID: 34493544 Free PMC article.
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC. Harrison RE, et al. Among authors: morrell nw. J Med Genet. 2003 Dec;40(12):865-71. doi: 10.1136/jmg.40.12.865. J Med Genet. 2003. PMID: 14684682 Free PMC article.
Genetic association of the serotonin transporter in pulmonary arterial hypertension.
Machado RD, Koehler R, Glissmeyer E, Veal C, Suntharalingam J, Kim M, Carlquist J, Town M, Elliott CG, Hoeper M, Fijalkowska A, Kurzyna M, Thomson JR, Gibbs SR, Wilkins MR, Seeger W, Morrell NW, Gruenig E, Trembath RC, Janssen B. Machado RD, et al. Among authors: morrell nw. Am J Respir Crit Care Med. 2006 Apr 1;173(7):793-7. doi: 10.1164/rccm.200509-1365OC. Epub 2006 Jan 6. Am J Respir Crit Care Med. 2006. PMID: 16399993
356 results