Pauciulo MW - Search Results

1

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Zhu N, Gonzaga-Jauregui C, Welch CL, Ma L, Qi H, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Nichols WC, Pauciulo MW, Lutz KA, Sawle A, Reid JG, Overton JD, Baras A, Dewey F, Shen Y, Chung WK. Zhu N, et al. Among authors: pauciulo mw. Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887. Circ Genom Precis Med. 2018. PMID: 29631995 Free PMC article.

2

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. International PPH Consortium, et al. Among authors: pauciulo mw. Nat Genet. 2000 Sep;26(1):81-4. doi: 10.1038/79226. Nat Genet. 2000. PMID: 10973254

3

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.

4

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.

5

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. N Engl J Med. 2001 Aug 2;345(5):325-34. doi: 10.1056/NEJM200108023450503. N Engl J Med. 2001. PMID: 11484689 Free article.

6

Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families.

Nichols WC, Pankratz N, Uniacke SK, Pauciulo MW, Halter C, Rudolph A, Conneally PM, Foroud T. Nichols WC, et al. Among authors: pauciulo mw. J Med Genet. 2002 Jul;39(7):489-92. doi: 10.1136/jmg.39.7.489. J Med Genet. 2002. PMID: 12114481 Free PMC article. No abstract available.

7

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. 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.

8

Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.

Koehler R, Grünig E, Pauciulo MW, Hoeper MM, Olschewski H, Wilkens H, Halank M, Winkler J, Ewert R, Bremer H, Kreuscher S, Janssen B, Nichols WC. Koehler R, et al. Among authors: pauciulo mw. J Med Genet. 2004 Dec;41(12):e127. doi: 10.1136/jmg.2004.023101. J Med Genet. 2004. PMID: 15591269 Free PMC article. No abstract available.

9

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. Cogan JD, et al. Among authors: pauciulo mw. Am J Respir Crit Care Med. 2006 Sep 1;174(5):590-8. doi: 10.1164/rccm.200602-165OC. Epub 2006 May 25. Am J Respir Crit Care Med. 2006. PMID: 16728714 Free PMC article.

10

R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation.

Nichols WC, Marek DK, Pauciulo MW, Pankratz N, Halter CA, Rudolph A, Shults CW, Wojcieszek J, Foroud T; Parkinson Study Group - PROGENI Investigators. Nichols WC, et al. Among authors: pauciulo mw. Mov Disord. 2007 Jan 15;22(2):254-7. doi: 10.1002/mds.21233. Mov Disord. 2007. PMID: 17149721

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