McPherson E - Search Results

1

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.

Mroske C, Rasmussen K, Shinde DN, Huether R, Powis Z, Lu HM, Baxter RM, McPherson E, Tang S. Mroske C, et al. Among authors: mcpherson e. BMC Med Genet. 2015 Nov 5;16:102. doi: 10.1186/s12881-015-0240-8. BMC Med Genet. 2015. PMID: 26542245 Free PMC article.

2

Extreme values of maternal serum analytes in second trimester screening: looking beyond trisomy and NTD's.

McPherson E, Thomas GD, Manlick C, Zaleski CA, Reynolds KK, Rasmussen K, Giampietro PF, Wiley C, Mascola M. McPherson E, et al. J Genet Couns. 2011 Aug;20(4):396-403. doi: 10.1007/s10897-011-9364-y. Epub 2011 Apr 20. J Genet Couns. 2011. PMID: 21505920

3

Mitochondrial mutation in a child with distal arthrogryposis.

McPherson E, Zabel C. McPherson E, et al. Am J Med Genet A. 2006 Jan 15;140(2):184-5. doi: 10.1002/ajmg.a.31041. Am J Med Genet A. 2006. PMID: 16353243

4

Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?

McPherson E, Zaleski C, Ye Z, Lin S. McPherson E, et al. Am J Med Genet A. 2014 Jul;164A(7):1841-5. doi: 10.1002/ajmg.a.36555. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715698

5

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Among authors: mcpherson ew. Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683120 Free PMC article.

6

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.

McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF. McPherson E, et al. Am J Med Genet A. 2009 Feb 15;149A(4):567-72. doi: 10.1002/ajmg.a.32627. Am J Med Genet A. 2009. PMID: 19283854

7

Recurrence of stillbirth and second trimester pregnancy loss.

McPherson E. McPherson E. Am J Med Genet A. 2016 May;170A(5):1174-80. doi: 10.1002/ajmg.a.37606. Epub 2016 Mar 5. Am J Med Genet A. 2016. PMID: 26945668

8

Stillbirth: the heart of the matter.

Jorgensen M, McPherson E, Zaleski C, Shivaram P, Cold C. Jorgensen M, et al. Among authors: mcpherson e. Am J Med Genet A. 2014 Mar;164A(3):691-9. doi: 10.1002/ajmg.a.36366. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459042

9

Neuroblastoma in a 17-week fetus: a stimulus for investigation of tumors in a series of 2786 stillbirth and late miscarriages.

McPherson E, Cold C, Johnson P, Schema L, Zaleski C. McPherson E, et al. Am J Med Genet A. 2015 Jan;167A(1):246-9. doi: 10.1002/ajmg.a.36829. Epub 2014 Oct 22. Am J Med Genet A. 2015. PMID: 25339601

10

Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies.

McPherson E, Cold C. McPherson E, et al. Am J Med Genet A. 2013 Oct;161A(10):2666-9. doi: 10.1002/ajmg.a.36117. Epub 2013 Aug 15. Am J Med Genet A. 2013. PMID: 23950073 No abstract available.

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