Pauciulo MW - Search Results

1

Human liver single nuclear RNA sequencing implicates BMPR2, GDF15, arginine, and estrogen in portopulmonary hypertension.

Jose A, Elwing JM, Kawut SM, Pauciulo MW, Sherman KE, Nichols WC, Fallon MB, McCormack FX. Jose A, et al. Among authors: pauciulo mw. Commun Biol. 2023 Aug 9;6(1):826. doi: 10.1038/s42003-023-05193-3. Commun Biol. 2023. PMID: 37558836 Free PMC article.

2

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.

3

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.

4

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.

5

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.

6

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.

7

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

8

Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?

Stewart DR, Cogan JD, Kramer MR, Miller WT Jr, Christiansen LE, Pauciulo MW, Messiaen LM, Tu GS, Thompson WH, Pyeritz RE, Ryu JH, Nichols WC, Kodama M, Meyrick BO, Ross DJ. Stewart DR, et al. Among authors: pauciulo mw. Chest. 2007 Sep;132(3):798-808. doi: 10.1378/chest.06-3017. Epub 2007 Jun 15. Chest. 2007. PMID: 17573495

9

LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8.

Nichols WC, Elsaesser VE, Pankratz N, Pauciulo MW, Marek DK, Halter CA, Rudolph A, Shults CW, Foroud T; Parkinson Study Group-PROGENI Investigators. Nichols WC, et al. Among authors: pauciulo mw. Neurology. 2007 Oct 30;69(18):1737-44. doi: 10.1212/01.wnl.0000278115.50741.4e. Epub 2007 Sep 5. Neurology. 2007. PMID: 17804834

10

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

Nichols WC, Pankratz N, Marek DK, Pauciulo MW, Elsaesser VE, Halter CA, Rudolph A, Wojcieszek J, Pfeiffer RF, Foroud T; Parkinson Study Group-PROGENI Investigators. Nichols WC, et al. Among authors: pauciulo mw. Neurology. 2009 Jan 27;72(4):310-6. doi: 10.1212/01.wnl.0000327823.81237.d1. Epub 2008 Nov 5. Neurology. 2009. PMID: 18987351 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

81 results

Search Page