Pulmonary Hypertension--Mechanisms and Family Registry
|ClinicalTrials.gov Identifier: NCT00005357|
Recruitment Status : Completed
First Posted : May 26, 2000
Last Update Posted : February 10, 2016
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by:
No Study Results Posted on ClinicalTrials.gov for this Study
|Recruitment Status :||Completed|
|Actual Primary Completion Date :||March 1999|
|Actual Study Completion Date :||March 1999|
Loyd JE, Slovis B, Phillips JA 3rd, Butler MG, Foroud TM, Conneally PM, Newman JH. The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion. Chest. 1997 Jun;111(6 Suppl):82S-83S.
Nichols WC, Koller DL, Slovis B, Foroud T, Terry VH, Arnold ND, Siemieniak DR, Wheeler L, Phillips JA 3rd, Newman JH, Conneally PM, Ginsburg D, Loyd JE. Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. Nat Genet. 1997 Mar;15(3):277-80.
Robbins IM, Christman BW, Newman JH, Matlock R, Loyd JE. A survey of diagnostic practices and the use of epoprostenol in patients with primary pulmonary hypertension. Chest. 1998 Nov;114(5):1269-75.
Chazova I, Robbins I, Loyd J, Newman J, Tapson V, Zhdaov V, Meyrick B. Venous and arterial changes in pulmonary veno-occlusive disease, mitral stenosis and fibrosing mediastinitis. Eur Respir J. 2000 Jan;15(1):116-22.
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. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am J Hum Genet. 2001 Jan;68(1):92-102. Epub 2000 Dec 12.
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. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. J Med Genet. 2000 Oct;37(10):741-5.
International PPH Consortium, Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA 3rd, Loyd JE, Nichols WC, Trembath RC. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet. 2000 Sep;26(1):81-4.
Doyle TP, Loyd JE, Robbins IM. Percutaneous pulmonary artery and vein stenting: a novel treatment for mediastinal fibrosis. Am J Respir Crit Care Med. 2001 Aug 15;164(4):657-60.
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. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med. 2001 Aug 2;345(5):325-34.
Holcomb BW, Loyd JE, Byrd BF 3rd, Wilsdorf TT, Casey-Cato T, Mason WR, Robbins IM. Iatrogenic paradoxical air embolism in pulmonary hypertension. Chest. 2001 May;119(5):1602-5.
Province MA, Rao DC. General purpose model and a computer program for combined segregation and path analysis (SEGPATH): automatically creating computer programs from symbolic language model specifications. Genet Epidemiol. 1995;12(2):203-19.
Loyd JE. Parker B. Francis Lecture. Genetics and gene expression in pulmonary hypertension. Chest. 2002 Mar;121(3 Suppl):46S-50S.
Runo JR, Vnencak-Jones CL, Prince M, Loyd JE, Wheeler L, Robbins IM, Lane KB, Newman JH, Johnson J, Nichols WC, Phillips JA 3rd. Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. Am J Respir Crit Care Med. 2003 Mar 15;167(6):889-94. Epub 2002 Nov 21.
Kuhn KP, Byrne DW, Arbogast PG, Doyle TP, Loyd JE, Robbins IM. Outcome in 91 consecutive patients with pulmonary arterial hypertension receiving epoprostenol. Am J Respir Crit Care Med. 2003 Feb 15;167(4):580-6. Epub 2002 Nov 21.
Newman JH, Wheeler L, Lane KB, Loyd E, Gaddipati R, Phillips JA 3rd, Loyd JE. Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. 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.