Nichols WC - Search Results

1

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Zhu N, Pauciulo MW, Welch CL, Lutz KA, Coleman AW, Gonzaga-Jauregui C, Wang J, Grimes JM, Martin LJ, He H; PAH Biobank Enrolling Centers’ Investigators; Shen Y, Chung WK, Nichols WC. Zhu N, et al. Among authors: nichols wc. Genome Med. 2019 Nov 14;11(1):69. doi: 10.1186/s13073-019-0685-z. Genome Med. 2019. PMID: 31727138 Free PMC article.

2

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: nichols wc. 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.

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. 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

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: nichols wc. 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.

5

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: nichols wc. 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.

6

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. Mov Disord. 2007 Jan 15;22(2):254-7. doi: 10.1002/mds.21233. Mov Disord. 2007. PMID: 17149721

7

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: nichols wc. Chest. 2007 Sep;132(3):798-808. doi: 10.1378/chest.06-3017. Epub 2007 Jun 15. Chest. 2007. PMID: 17573495

8

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. Neurology. 2007 Oct 30;69(18):1737-44. doi: 10.1212/01.wnl.0000278115.50741.4e. Epub 2007 Sep 5. Neurology. 2007. PMID: 17804834

9

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. 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.

10

High levels of placenta growth factor in sickle cell disease promote pulmonary hypertension.

Sundaram N, Tailor A, Mendelsohn L, Wansapura J, Wang X, Higashimoto T, Pauciulo MW, Gottliebson W, Kalra VK, Nichols WC, Kato GJ, Malik P. Sundaram N, et al. Among authors: nichols wc. Blood. 2010 Jul 8;116(1):109-12. doi: 10.1182/blood-2009-09-244830. Epub 2010 Mar 24. Blood. 2010. PMID: 20335221 Free PMC article.

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