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Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31.
Rindermann M, Grünig E, von Hippel A, Koehler R, Miltenberger-Miltenyi G, Mereles D, Arnold K, Pauciulo M, Nichols W, Olschewski H, Hoeper MM, Winkler J, Katus HA, Kübler W, Bartram CR, Janssen B. Rindermann M, et al. Among authors: pauciulo m. J Am Coll Cardiol. 2003 Jun 18;41(12):2237-44. doi: 10.1016/s0735-1097(03)00491-1. J Am Coll Cardiol. 2003. PMID: 12821254 Free article.
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. Thomson JR, et al. Among authors: pauciulo mw. J Med Genet. 2000 Oct;37(10):741-5. doi: 10.1136/jmg.37.10.741. J Med Genet. 2000. PMID: 11015450 Free PMC article.
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. Machado RD, et al. Among authors: pauciulo mw. Am J Hum Genet. 2001 Jan;68(1):92-102. doi: 10.1086/316947. Epub 2000 Dec 12. Am J Hum Genet. 2001. PMID: 11115378 Free PMC article.
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. Trembath RC, et al. Among authors: pauciulo m. N Engl J Med. 2001 Aug 2;345(5):325-34. doi: 10.1056/NEJM200108023450503. N Engl J Med. 2001. PMID: 11484689 Free article.
A mutation in myotilin causes spheroid body myopathy.
Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC. Foroud T, et al. Among authors: pauciulo mw. Neurology. 2005 Dec 27;65(12):1936-40. doi: 10.1212/01.wnl.0000188872.28149.9a. Neurology. 2005. PMID: 16380616
85 results