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Items: 8

1.

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, Phillips JA 3rd, Newman J, Williams D, Galiè N, Manes A, McNeil K, Yacoub M, Mikhail G, Rogers P, Corris P, Humbert M, Donnai D, Martensson G, Tranebjaerg L, Loyd JE, Trembath RC, Nichols WC.

Am J Hum Genet. 2001 Jan;68(1):92-102. Epub 2000 Dec 12.

2.

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

Morisaki H, Nakanishi N, Kyotani S, Takashima A, Tomoike H, Morisaki T.

Hum Mutat. 2004 Jun;23(6):632. Erratum in: Hum Mutat. 2004 Sep;24(3):275.

PMID:
15146475
3.

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, Janssen B, Koehler R, Seeger W, Eickelberg O, Olschewski H, Elliott CG, Glissmeyer E, Carlquist J, Kim M, Torbicki A, Fijalkowska A, Szewczyk G, Parma J, Abramowicz MJ, Galie N, Morisaki H, Kyotani S, Nakanishi N, Morisaki T, Humbert M, Simonneau G, Sitbon O, Soubrier F, Coulet F, Morrell NW, Trembath RC.

Hum Mutat. 2006 Feb;27(2):121-32.

PMID:
16429395
4.

Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension.

Rosenzweig EB, Morse JH, Knowles JA, Chada KK, Khan AM, Roberts KE, McElroy JJ, Juskiw NK, Mallory NC, Rich S, Diamond B, Barst RJ.

J Heart Lung Transplant. 2008 Jun;27(6):668-74. doi: 10.1016/j.healun.2008.02.009. Epub 2008 Apr 9.

PMID:
18503968
5.

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. Epub 2008 Mar 20.

PMID:
18356561
6.

Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.

Wang H, Cui QQ, Sun K, Song L, Zou YB, Wang XJ, Jia L, Liu X, Gao S, Zhang CN, Hui RT.

Clin Genet. 2010 Feb;77(2):189-92. doi: 10.1111/j.1399-0004.2009.01335.x. Epub 2009 Dec 10. No abstract available.

PMID:
20002458
7.

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

Elliott CG, Glissmeyer EW, Havlena GT, Carlquist J, McKinney JT, Rich S, McGoon MD, Scholand MB, Kim M, Jensen RL, Schmidt JW, Ward K.

Circulation. 2006 May 30;113(21):2509-15. Epub 2006 May 22.

8.

Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.

Girerd B, Montani D, Eyries M, Yaici A, Sztrymf B, Coulet F, Sitbon O, Simonneau G, Soubrier F, Humbert M.

Respir Res. 2010 Jun 10;11:73. doi: 10.1186/1465-9921-11-73.

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