Pauciulo MW - Search Results

1

Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.

Toshner M, Church C, Harbaum L, Rhodes C, Villar Moreschi SS, Liley J, Jones R, Arora A, Batai K, Desai AA, Coghlan JG, Gibbs JSR, Gor D, Gräf S, Harlow L, Hernandez-Sanchez J, Howard LS, Humbert M, Karnes J, Kiely DG, Kittles R, Knightbridge E, Lam B, Lutz KA, Nichols WC, Pauciulo MW, Pepke-Zaba J, Suntharalingam J, Soubrier F, Trembath RC, Schwantes-An TL, Wort SJ, Wilkins MR, Gaine S, Morrell NW, Corris PA; Uniphy Clinical Trials Network. Toshner M, et al. Among authors: pauciulo mw. Eur Respir J. 2022 Mar 10;59(3):2002463. doi: 10.1183/13993003.02463-2020. Print 2022 Mar. Eur Respir J. 2022. PMID: 34588193 Free PMC article.

2

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.

Machado RD, Pauciulo MW, Fretwell N, Veal C, Thomson JR, Vilariño Güell C, Aldred M, Brannon CA, Trembath RC, Nichols WC. Machado RD, et al. Among authors: pauciulo mw. Genomics. 2000 Sep 1;68(2):220-8. doi: 10.1006/geno.2000.6291. Genomics. 2000. PMID: 10964520

3

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

4

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.

5

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.

6

Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein tùype II receptor.

Thomson J, Machado R, Pauciulo M, Morgan N, Yacoub M, Corris P, McNeil K, Loyd J, Nichols W, Trembath R. Thomson J, et al. J Heart Lung Transplant. 2001 Feb;20(2):149. doi: 10.1016/s1053-2498(01)00259-5. J Heart Lung Transplant. 2001. PMID: 11250205 No abstract available.

7

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.

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

Mutations in DJ-1 are rare in familial Parkinson disease.

Pankratz N, Pauciulo MW, Elsaesser VE, Marek DK, Halter CA, Wojcieszek J, Rudolph A, Shults CW, Foroud T, Nichols WC; Parkinson Study Group - PROGENI Investigators. Pankratz N, et al. Among authors: pauciulo mw. Neurosci Lett. 2006 Nov 20;408(3):209-13. doi: 10.1016/j.neulet.2006.09.003. Epub 2006 Sep 25. Neurosci Lett. 2006. PMID: 16997464 Free PMC article.

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