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Items: 1 to 20 of 223

1.

Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.

Machado RD, James V, Southwood M, Harrison RE, Atkinson C, Stewart S, Morrell NW, Trembath RC, Aldred MA.

Circulation. 2005 Feb 8;111(5):607-13.

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.
4.

A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension.

Fu LJ, Zhou AQ, Huang MR, Shen SH, Shen J, Zhang ZF, Li F.

Chin Med J (Engl). 2008 Mar 5;121(5):399-404.

PMID:
18364108
5.

Genes and pulmonary arterial hypertension.

Sztrymf B, Yaïci A, Girerd B, Humbert M.

Respiration. 2007;74(2):123-32. Review.

PMID:
17318011
6.

Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension.

Wang H, Li W, Zhang W, Sun K, Song X, Gao S, Zhang C, Hui R, Hu H.

Eur J Hum Genet. 2009 Aug;17(8):1063-9. doi: 10.1038/ejhg.2009.3. Epub 2009 Feb 18.

7.

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.

8.

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
9.

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.

Hamid R, Cogan JD, Hedges LK, Austin E, Phillips JA 3rd, Newman JH, Loyd JE.

Hum Mutat. 2009 Apr;30(4):649-54. doi: 10.1002/humu.20922.

10.

Genetic basis of pulmonary arterial hypertension: current understanding and future directions.

Newman JH, Trembath RC, Morse JA, Grunig E, Loyd JE, Adnot S, Coccolo F, Ventura C, Phillips JA 3rd, Knowles JA, Janssen B, Eickelberg O, Eddahibi S, Herve P, Nichols WC, Elliott G.

J Am Coll Cardiol. 2004 Jun 16;43(12 Suppl S):33S-39S. Review.

11.

[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.

12.

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
13.

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L.

N Engl J Med. 2001 Aug 2;345(5):325-34.

14.

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
15.

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.

Aldred MA, Vijayakrishnan J, James V, Soubrier F, Gomez-Sanchez MA, Martensson G, Galie N, Manes A, Corris P, Simonneau G, Humbert M, Morrell NW, Trembath RC.

Hum Mutat. 2006 Feb;27(2):212-3.

PMID:
16429403
17.

Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor.

Atkinson C, Stewart S, Upton PD, Machado R, Thomson JR, Trembath RC, Morrell NW.

Circulation. 2002 Apr 9;105(14):1672-8.

18.

Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension.

Phillips JA 3rd, Poling JS, Phillips CA, Stanton KC, Austin ED, Cogan JD, Wheeler L, Yu C, Newman JH, Dietz HC, Loyd JE.

Genet Med. 2008 May;10(5):359-65. doi: 10.1097/GIM.0b013e318172dcdf.

PMID:
18496036
19.

Genetic aspects of pulmonary arterial hypertension.

Morse JH, Deng Z, Knowles JA.

Ann Med. 2001 Dec;33(9):596-603. Review.

PMID:
11817654
20.

Dysfunctional Smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension.

Yang X, Long L, Southwood M, Rudarakanchana N, Upton PD, Jeffery TK, Atkinson C, Chen H, Trembath RC, Morrell NW.

Circ Res. 2005 May 27;96(10):1053-63. Epub 2005 Apr 21.

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