215 related articles for article (PubMed ID: 32079640)
1. Phenotype and outcome of pulmonary arterial hypertension patients carrying a
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
Eur Respir J; 2020 May; 55(5):. PubMed ID: 32079640
[TBL] [Abstract][Full Text] [Related]
2. 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
J Med Genet; 2013 Aug; 50(8):500-6. PubMed ID: 23592887
[TBL] [Abstract][Full Text] [Related]
3. 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
Am J Hum Genet; 2019 Dec; 105(6):1294-1301. PubMed ID: 31761294
[TBL] [Abstract][Full Text] [Related]
4. Identification and Functional Evaluation of a Novel
Li P; Lan W; Li J; Zhang Y; Xiong Q; Ye J; Wu C; Xiao H
Int J Mol Sci; 2022 Feb; 23(4):. PubMed ID: 35216193
[TBL] [Abstract][Full Text] [Related]
5. Computed tomographic findings in TBX4 mutation: a common cause of severe pulmonary artery hypertension in children.
Neves da Silva HV; Weinman JP; Englund EK; Deterding RR; Ivy DD; Browne LP
Pediatr Radiol; 2024 Feb; 54(2):199-207. PubMed ID: 38191808
[TBL] [Abstract][Full Text] [Related]
6. Small patella syndrome: New clinical and molecular insights into a consistent phenotype.
Vanlerberghe C; Jourdain AS; Dieux A; Toutain A; Callewaert B; Dupuis-Girod S; Unger S; Wright M; Isidor B; Ghoumid J; Petit F; Boutry N; Escande F; Manouvrier-Hanu S
Clin Genet; 2017 Dec; 92(6):676-678. PubMed ID: 29120062
[No Abstract] [Full Text] [Related]
7. 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
Am J Med Genet A; 2022 May; 188(5):1420-1425. PubMed ID: 35075769
[TBL] [Abstract][Full Text] [Related]
8. Small patella syndrome.
Penhoat-Gahier M; Chaillous B; Cozic C; Andre V; Cormier G
Joint Bone Spine; 2017 May; 84(3):377-378. PubMed ID: 27344077
[No Abstract] [Full Text] [Related]
9. The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.
Haarman MG; Kerstjens-Frederikse WS; Vissia-Kazemier TR; Breeman KTN; Timens W; Vos YJ; Roofthooft MTR; Hillege HL; Berger RMF
J Pediatr; 2020 Oct; 225():65-73.e5. PubMed ID: 32502478
[TBL] [Abstract][Full Text] [Related]
10. A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
Matsushita M; Kitoh H; Kaneko H; Mishima K; Kadono I; Ishiguro N; Nishimura G
Am J Med Genet A; 2013 Oct; 161A(10):2528-34. PubMed ID: 24038782
[TBL] [Abstract][Full Text] [Related]
11. Phenotype characterisation of
Galambos C; Mullen MP; Shieh JT; Schwerk N; Kielt MJ; Ullmann N; Boldrini R; Stucin-Gantar I; Haass C; Bansal M; Agrawal PB; Johnson J; Peca D; Surace C; Cutrera R; Pauciulo MW; Nichols WC; Griese M; Ivy D; Abman SH; Austin ED; Danhaive O
Eur Respir J; 2019 Aug; 54(2):. PubMed ID: 31151956
[TBL] [Abstract][Full Text] [Related]
12. An emerging phenotype of pulmonary arterial hypertension patients carrying
Montani D; Lechartier B; Girerd B; Eyries M; Ghigna MR; Savale L; Jaïs X; Seferian A; Jevnikar M; Boucly A; Riou M; Traclet J; Chaouat A; Levy M; Le Pavec J; Fadel E; Perros F; Soubrier F; Remy-Jardin M; Sitbon O; Bonnet D; Humbert M
Eur Respir J; 2022 Dec; 60(6):. PubMed ID: 35618278
[TBL] [Abstract][Full Text] [Related]
13. 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
Rev Esp Cardiol (Engl Ed); 2016 Nov; 69(11):1011-1019. PubMed ID: 27453251
[TBL] [Abstract][Full Text] [Related]
14. Long-Term Effect of
Doughty ES; Norvik C; Levin A; Bodmer J; Tran-Lundmark K; Abman SH; Galambos C
Pediatr Dev Pathol; 2024; 27(1):83-89. PubMed ID: 37801629
[TBL] [Abstract][Full Text] [Related]
15. Clinical phenotypes and outcomes of heritable and sporadic pulmonary veno-occlusive disease: a population-based study.
Montani D; Girerd B; Jaïs X; Levy M; Amar D; Savale L; Dorfmüller P; Seferian A; Lau EM; Eyries M; Le Pavec J; Parent F; Bonnet D; Soubrier F; Fadel E; Sitbon O; Simonneau G; Humbert M
Lancet Respir Med; 2017 Feb; 5(2):125-134. PubMed ID: 28087362
[TBL] [Abstract][Full Text] [Related]
16. Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.
Zhu N; Swietlik EM; Welch CL; Pauciulo MW; Hagen JJ; Zhou X; Guo Y; Karten J; Pandya D; Tilly T; Lutz KA; Martin JM; Treacy CM; Rosenzweig EB; Krishnan U; Coleman AW; Gonzaga-Jauregui C; Lawrie A; Trembath RC; Wilkins MR; ; ; ; ; Morrell NW; Shen Y; Gräf S; Nichols WC; Chung WK
Genome Med; 2021 May; 13(1):80. PubMed ID: 33971972
[TBL] [Abstract][Full Text] [Related]
17. TBX4 variants and pulmonary diseases: getting out of the 'Box'.
Haarman MG; Kerstjens-Frederikse WS; Berger RMF
Curr Opin Pulm Med; 2020 May; 26(3):277-284. PubMed ID: 32195678
[TBL] [Abstract][Full Text] [Related]
18. 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
Circ Genom Precis Med; 2018 Apr; 11(4):e001887. PubMed ID: 29631995
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the human TBX4 gene cause small patella syndrome.
Bongers EM; Duijf PH; van Beersum SE; Schoots J; Van Kampen A; Burckhardt A; Hamel BC; Losan F; Hoefsloot LH; Yntema HG; Knoers NV; van Bokhoven H
Am J Hum Genet; 2004 Jun; 74(6):1239-48. PubMed ID: 15106123
[TBL] [Abstract][Full Text] [Related]
20. Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
van den Heuvel LM; Jansen SMA; Alsters SIM; Post MC; van der Smagt JJ; Handoko-De Man FS; van Tintelen JP; Gille H; Christiaans I; Vonk Noordegraaf A; Bogaard H; Houweling AC
Genes (Basel); 2020 Oct; 11(10):. PubMed ID: 33066286
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
