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Items: 9

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.

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
3.

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.

Sankelo M, Flanagan JA, Machado R, Harrison R, Rudarakanchana N, Morrell N, Dixon M, Halme M, Puolijoki H, Kere J, Elomaa O, Kupari M, Räisänen-Sokolowski A, Trembath RC, Laitinen T.

Hum Mutat. 2005 Aug;26(2):119-24.

PMID:
15965979
4.

Evolutionary conservation and mutational spectrum of BMPR2 gene.

Wong WK, Morse JH, Knowles JA.

Gene. 2006 Mar 1;368:84-93. Epub 2005 Dec 20.

PMID:
16361068
5.

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
6.

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
7.

[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].

Portillo K, Santos S, Madrigal I, Blanco I, Paré C, Borderías L, Peinado VI, Roca J, Milà M, Barberà JA.

Arch Bronconeumol. 2010 Mar;46(3):129-34. doi: 10.1016/j.arbres.2009.11.005. Epub 2010 Jan 21. Spanish.

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.

9.

Computer three-dimensional reconstruction of the sinoatrial node.

Dobrzynski H, Li J, Tellez J, Greener ID, Nikolski VP, Wright SE, Parson SH, Jones SA, Lancaster MK, Yamamoto M, Honjo H, Takagishi Y, Kodama I, Efimov IR, Billeter R, Boyett MR.

Circulation. 2005 Feb 22;111(7):846-54. Epub 2005 Feb 7.

PMID:
15699261

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