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First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Prapa M, Lago-Docampo M, Swietlik EM, Montani D, Eyries M, Humbert M, Welch CL, Chung WK, Berger RMF, Bogaard HJ, Danhaive O, Escribano-Subías P, Gall H, Girerd B, Hernandez-Gonzalez I, Holden S, Hunt D, Jansen SMA, Kerstjens-Frederikse W, Kiely DG, Lapunzina P, McDermott J, Moledina S, Pepke-Zaba J, Polwarth GJ, Schotte G, Tenorio-Castaño J, Thompson AAR, Wharton J, Wort SJ, Megy K, Mapeta R, Treacy CM, Martin JM, Li W, Swift AJ, Upton PD, Morrell NW, Gräf S, Valverde D; NIHR BioResource for Translational Research–Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; PAH Biobank Enrolling Centers’ Investigators. Prapa M, et al. Among authors: berger rmf. Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC. Am J Respir Crit Care Med. 2022. PMID: 35852389 Free PMC article.
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, Leter EM, Douwes JM, Van Dijk A, Vonk-Noordegraaf A, Dijk-Bos KK, Hoefsloot LH, Hoendermis ES, Gille JJ, Sikkema-Raddatz B, Hofstra RM, Berger RM. Kerstjens-Frederikse WS, et al. J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152. Epub 2013 Apr 16. J Med Genet. 2013. PMID: 23592887 Free PMC article.
Pulmonary arterial hypertension in children after neonatal arterial switch operation.
Zijlstra WM, Elmasry O, Pepplinkhuizen S, Ivy DD, Bonnet D, Luijendijk P, Lévy M, Gavilan JL, Torrent-Vernetta A, Mendoza A, Del Cerro MJ, Moledina S, Berger RM. Zijlstra WM, et al. Heart. 2017 Aug;103(16):1244-1249. doi: 10.1136/heartjnl-2016-310624. Epub 2017 Jan 23. Heart. 2017. PMID: 28115472 Free article.
Physical Activity in Pediatric Pulmonary Arterial Hypertension Measured by Accelerometry. A Candidate Clinical Endpoint.
Zijlstra WMH, Ploegstra MJ, Vissia-Kazemier T, Roofthooft MTR, Sarvaas GDM, Bartelds B, Rackowitz A, van den Heuvel F, Hillege HL, Plasqui G, Berger RMF. Zijlstra WMH, et al. Among authors: berger rmf. Am J Respir Crit Care Med. 2017 Jul 15;196(2):220-227. doi: 10.1164/rccm.201608-1576OC. Am J Respir Crit Care Med. 2017. PMID: 28178426
220 results