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Items: 1 to 20 of 106

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.

J Med Genet. 2013 Aug;50(8):500-6. doi: 10.1136/jmedgenet-2012-101152.

2.

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. doi: 10.1002/ajmg.a.36134.

PMID:
24038782
3.

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.

4.

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

Harrison RE, Berger R, Haworth SG, Tulloh R, Mache CJ, Morrell NW, Aldred MA, Trembath RC.

Circulation. 2005 Feb 1;111(4):435-41.

5.

Genetics and genomics of pulmonary arterial hypertension.

Soubrier F, Chung WK, Machado R, Grünig E, Aldred M, Geraci M, Loyd JE, Elliott CG, Trembath RC, Newman JH, Humbert M.

J Am Coll Cardiol. 2013 Dec 24;62(25 Suppl):D13-21. doi: 10.1016/j.jacc.2013.10.035. Review.

6.

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Pfarr N, Szamalek-Hoegel J, Fischer C, Hinderhofer K, Nagel C, Ehlken N, Tiede H, Olschewski H, Reichenberger F, Ghofrani AH, Seeger W, Grünig E.

Respir Res. 2011 Jul 29;12:99. doi: 10.1186/1465-9921-12-99.

7.

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. doi: 10.1016/j.rec.2016.03.029. English, Spanish.

PMID:
27453251
8.

Genetic analyses in a cohort of children with pulmonary hypertension.

Levy M, Eyries M, Szezepanski I, Ladouceur M, Nadaud S, Bonnet D, Soubrier F.

Eur Respir J. 2016 Oct;48(4):1118-1126. doi: 10.1183/13993003.00211-2016.

PMID:
27587546
9.

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

Pfarr N, Fischer C, Ehlken N, Becker-Grünig T, López-González V, Gorenflo M, Hager A, Hinderhofer K, Miera O, Nagel C, Schranz D, Grünig E.

Respir Res. 2013 Jan 9;14:3. doi: 10.1186/1465-9921-14-3.

10.

Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.

Sztrymf B, Coulet F, Girerd B, Yaici A, Jais X, Sitbon O, Montani D, Souza R, Simonneau G, Soubrier F, Humbert M.

Am J Respir Crit Care Med. 2008 Jun 15;177(12):1377-83. doi: 10.1164/rccm.200712-1807OC.

PMID:
18356561
11.

Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.

Abdul-Rahman OA, La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L.

Am J Med Genet A. 2006 Jul 15;140(14):1567-72.

PMID:
16761293
12.

Genetics and the molecular pathogenesis of pulmonary arterial hypertension.

Liu D, Morrell NW.

Curr Hypertens Rep. 2013 Dec;15(6):632-7. Review.

PMID:
24078385
13.

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.

Nimmakayalu M, Major H, Sheffield V, Solomon DH, Smith RJ, Patil SR, Shchelochkov OA.

Am J Med Genet A. 2011 Feb;155A(2):418-23. doi: 10.1002/ajmg.a.33827.

PMID:
21271665
14.

Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.

Fujiwara M, Yagi H, Matsuoka R, Akimoto K, Furutani M, Imamura S, Uehara R, Nakayama T, Takao A, Nakazawa M, Saji T.

Circ J. 2008 Jan;72(1):127-33.

15.

Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension.

Kabata H, Satoh T, Kataoka M, Tamura Y, Ono T, Yamamoto M, Huqun, Hagiwara K, Fukuda K, Betsuyaku T, Asano K.

Respirology. 2013 Oct;18(7):1076-82. doi: 10.1111/resp.12117.

PMID:
23675998
16.

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

Liu D, Liu QQ, Eyries M, Wu WH, Yuan P, Zhang R, Soubrier F, Jing ZC.

Eur Respir J. 2012 Mar;39(3):597-603. doi: 10.1183/09031936.00072911.

17.

The genetic basis of pulmonary arterial hypertension.

Ma L, Chung WK.

Hum Genet. 2014 May;133(5):471-9. doi: 10.1007/s00439-014-1419-3. Review.

PMID:
24442418
18.

Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.

Smoot LB, Obler D, McElhinney DB, Boardman K, Wu BL, Lip V, Mullen MP.

Arch Dis Child. 2009 Jul;94(7):506-11. doi: 10.1136/adc.2007.133082.

PMID:
19357124
19.

Genetic counselling in a national referral centre for pulmonary hypertension.

Girerd B, Montani D, Jaïs X, Eyries M, Yaici A, Sztrymf B, Savale L, Parent F, Coulet F, Godinas L, Lau EM, Tamura Y, Sitbon O, Soubrier F, Simonneau G, Humbert M.

Eur Respir J. 2016 Feb;47(2):541-52. doi: 10.1183/13993003.00717-2015.

PMID:
26699722
20.

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.

Austin ED, Phillips JA, Cogan JD, Hamid R, Yu C, Stanton KC, Phillips CA, Wheeler LA, Robbins IM, Newman JH, Loyd JE.

Respir Res. 2009 Sep 28;10:87. doi: 10.1186/1465-9921-10-87.

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