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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 3
2005 3
2006 4
2008 5
2009 4
2010 3
2011 5
2012 5
2013 9
2014 3
2015 3
2016 12
2017 10
2018 9
2019 11
2020 15
2021 7
2022 17
2023 2
2024 0

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Similar articles for PMID: 23592887

117 results

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Page 1
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.
Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.
Thoré P, Girerd B, Jaïs X, Savale L, Ghigna MR, Eyries M, Levy M, Ovaert C, Servettaz A, Guillaumot A, Dauphin C, Chabanne C, Boiffard E, Cottin V, Perros F, Simonneau G, Sitbon O, Soubrier F, Bonnet D, Remy-Jardin M, Chaouat A, Humbert M, Montani D. Thoré P, et al. Eur Respir J. 2020 May 14;55(5):1902340. doi: 10.1183/13993003.02340-2019. Print 2020 May. Eur Respir J. 2020. PMID: 32079640 Free article.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B. Kariminejad A, et al. Am J Hum Genet. 2019 Dec 5;105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21. Am J Hum Genet. 2019. PMID: 31761294 Free PMC article.
Small patella syndrome.
Penhoat-Gahier M, Chaillous B, Cozic C, Andre V, Cormier G. Penhoat-Gahier M, et al. Joint Bone Spine. 2017 May;84(3):377-378. doi: 10.1016/j.jbspin.2016.05.007. Epub 2016 Jun 22. Joint Bone Spine. 2017. PMID: 27344077 No abstract available.
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.
Zhu N, Gonzaga-Jauregui C, Welch CL, Ma L, Qi H, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Nichols WC, Pauciulo MW, Lutz KA, Sawle A, Reid JG, Overton JD, Baras A, Dewey F, Shen Y, Chung WK. Zhu N, et al. Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887. Circ Genom Precis Med. 2018. PMID: 29631995 Free PMC article.
Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.
Navas P, Tenorio J, Quezada CA, Barrios E, Gordo G, Arias P, López Meseguer M, Santos-Lozano A, Palomino Doza J, Lapunzina P, Escribano Subías P. Navas P, et al. Rev Esp Cardiol (Engl Ed). 2016 Nov;69(11):1011-1019. doi: 10.1016/j.rec.2016.03.029. Epub 2016 Jul 21. Rev Esp Cardiol (Engl Ed). 2016. PMID: 27453251 English, Spanish.
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Murik O, Zeevi DA, Altarescu G, Stankiewicz P. Yıldız Bölükbaşı E, et al. Am J Med Genet A. 2022 May;188(5):1420-1425. doi: 10.1002/ajmg.a.62656. Epub 2022 Jan 25. Am J Med Genet A. 2022. PMID: 35075769 Free PMC article.
117 results