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Results: 1 to 20 of 102

1.

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.

Cogan JD, Vnencak-Jones CL, Phillips JA 3rd, Lane KB, Wheeler LA, Robbins IM, Garrison G, Hedges LK, Loyd JE.

Genet Med. 2005 Mar;7(3):169-74.

PMID:
15775752
[PubMed - indexed for MEDLINE]
2.

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.

Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, Ward K, Yacoub M, Mikhail G, Rogers P, Newman J, Wheeler L, Higenbottam T, Gibbs JS, Egan J, Crozier A, Peacock A, Allcock R, Corris P, Loyd JE, Trembath RC, Nichols WC.

J Med Genet. 2000 Oct;37(10):741-5.

PMID:
11015450
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
11115378
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Cogan JD, Pauciulo MW, Batchman AP, Prince MA, Robbins IM, Hedges LK, Stanton KC, Wheeler LA, Phillips JA 3rd, Loyd JE, Nichols WC.

Am J Respir Crit Care Med. 2006 Sep 1;174(5):590-8. Epub 2006 May 25.

PMID:
16728714
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension.

Kataoka M, Aimi Y, Yanagisawa R, Ono M, Oka A, Fukuda K, Yoshino H, Satoh T, Gamou S.

Genet Med. 2013 Dec;15(12):941-7. doi: 10.1038/gim.2013.41. Epub 2013 Apr 11.

PMID:
23579436
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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 2002 Apr 18;346(16):1258. N Engl J Med 2001 Nov 15;345(20):1506.

PMID:
11484688
[PubMed - indexed for MEDLINE]
Free Article
9.

Bone morphogenetic protein receptor 2 in patients with idiopathic portal hypertension.

De Gottardi A, Seijo S, Milá M, Alvarez MI, Bruguera M, Abraldes JG, Bosch J, García-Pagán JC.

J Cell Mol Med. 2012 Sep;16(9):2017-21. doi: 10.1111/j.1582-4934.2011.01496.x.

PMID:
22129439
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
14684682
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Identification of a novel mutation in the gene for bone morphogenetic protein receptor II in an Israeli patient with familial primary pulmonary hypertension.

Cahn A, Meiner V, Leitersdorf E, Berkman N.

Isr Med Assoc J. 2004 Mar;6(3):156-9.

PMID:
15055271
[PubMed - indexed for MEDLINE]
Free Article
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
Free Article
14.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
18159113
[PubMed - indexed for MEDLINE]
Free Article
16.

Novel insertional mutation in the bone morphogenetic protein receptor type II associated with sporadic primary pulmonary hypertension.

Sugiyama S, Hirota H, Yoshida M, Takemura Y, Nakaoka Y, Oshima Y, Terai K, Izumi M, Fujio Y, Hasegawa S, Mano T, Nakatsuchi Y, Hori M, Yamauchi-Takihara K, Kawase I.

Circ J. 2004 Jun;68(6):592-4.

PMID:
15170098
[PubMed - indexed for MEDLINE]
Free Article
17.

Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.

International PPH Consortium, Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA 3rd, Loyd JE, Nichols WC, Trembath RC.

Nat Genet. 2000 Sep;26(1):81-4.

PMID:
10973254
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension.

Aldred MA, Machado RD, James V, Morrell NW, Trembath RC.

Am J Respir Crit Care Med. 2007 Oct 15;176(8):819-24. Epub 2007 Jul 19.

PMID:
17641158
[PubMed - indexed for MEDLINE]
20.

Pulmonary hypertension in scleroderma spectrum of disease: lack of bone morphogenetic protein receptor 2 mutations.

Morse J, Barst R, Horn E, Cuervo N, Deng Z, Knowles J.

J Rheumatol. 2002 Nov;29(11):2379-81.

PMID:
12415595
[PubMed - indexed for MEDLINE]

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