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Items: 1 to 20 of 358

1.

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.

2.

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.

3.

Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia.

Abdalla SA, Gallione CJ, Barst RJ, Horn EM, Knowles JA, Marchuk DA, Letarte M, Morse JH.

Eur Respir J. 2004 Mar;23(3):373-7.

4.

Genetics of pulmonary hypertension: from bench to bedside.

Humbert M, Trembath RC.

Eur Respir J. 2002 Sep;20(3):741-9. Review.

5.

Genetic aspects of pulmonary arterial hypertension.

Morse JH, Deng Z, Knowles JA.

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

PMID:
11817654
6.

Genetics of pulmonary arterial hypertension: current and future implications.

Elliott CG.

Semin Respir Crit Care Med. 2005 Aug;26(4):365-71. Review.

PMID:
16121312
7.

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. Epub 2009 Apr 8.

PMID:
19357124
8.

Genetic clues to the cause of primary pulmonary hypertension.

Loscalzo J.

N Engl J Med. 2001 Aug 2;345(5):367-71. No abstract available.

PMID:
11484696
9.

[Analysis of genetic mutation and modifier genes in pulmonary arterial hypertension].

Fujiwara M, Yagi H, Matsuoka R, Saji T.

Nihon Rinsho. 2008 Nov;66(11):2071-5. Review. Japanese.

PMID:
19051722
10.

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA.

Nat Genet. 1996 Jun;13(2):189-95.

PMID:
8640225
11.

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC.

J Med Genet. 2003 Dec;40(12):865-71. Erratum in: J Med Genet. 2004 Jul;41(7):576.

12.

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.

Klaus DJ, Gallione CJ, Anthony K, Yeh EY, Yu J, Lux A, Johnson DW, Marchuk DA.

Hum Mutat. 1998;12(2):137.

PMID:
10694922
13.

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.

14.

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.

15.

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.

16.

BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia.

Rigelsky CM, Jennings C, Lehtonen R, Minai OA, Eng C, Aldred MA.

Am J Med Genet A. 2008 Oct 1;146A(19):2551-6. doi: 10.1002/ajmg.a.32468.

PMID:
18792970
17.

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
18.

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.

Eyries M, Coulet F, Girerd B, Montani D, Humbert M, Lacombe P, Chinet T, Gouya L, Roume J, Axford MM, Pearson CE, Soubrier F.

Clin Genet. 2012 Aug;82(2):173-9. doi: 10.1111/j.1399-0004.2011.01727.x. Epub 2011 Jul 13.

PMID:
21651515
19.
20.

Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred.

Newman JH, Wheeler L, Lane KB, Loyd E, Gaddipati R, Phillips JA 3rd, Loyd JE.

N Engl J Med. 2001 Aug 2;345(5):319-24. Erratum in: N Engl J Med 2001 Nov 15;345(20):1506. N Engl J Med 2002 Apr 18;346(16):1258.

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