Sol-Church K - Search Results

1

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB. Gripp KW, et al. Am J Med Genet A. 2016 Sep;170(9):2237-47. doi: 10.1002/ajmg.a.37781. Epub 2016 Jun 5. Am J Med Genet A. 2016. PMID: 27264673 Free PMC article.

2

Evolution of placentally expressed cathepsins.

Sol-Church K, Picerno GN, Stabley DL, Frenck J, Xing S, Bertenshaw GP, Mason RW. Sol-Church K, et al. Biochem Biophys Res Commun. 2002 Apr 26;293(1):23-9. doi: 10.1016/S0006-291X(02)00167-5. Biochem Biophys Res Commun. 2002. PMID: 12054558

3

Evolution of placental proteases.

Mason RW, Stabley DL, Picerno GN, Frenck J, Xing S, Bertenshaw GP, Sol-Church K. Mason RW, et al. Biol Chem. 2002 Jul-Aug;383(7-8):1113-8. doi: 10.1515/BC.2002.120. Biol Chem. 2002. PMID: 12437094 Review.

4

Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density.

Devoto M, Spotila LD, Stabley DL, Wharton GN, Rydbeck H, Korkko J, Kosich R, Prockop D, Tenenhouse A, Sol-Church K. Devoto M, et al. Eur J Hum Genet. 2005 Jun;13(6):781-8. doi: 10.1038/sj.ejhg.5201411. Eur J Hum Genet. 2005. PMID: 15827564

5

Exploring whole genome amplification as a DNA recovery tool for molecular genetic studies.

Holbrook JF, Stabley D, Sol-Church K. Holbrook JF, et al. J Biomol Tech. 2005 Jun;16(2):125-33. J Biomol Tech. 2005. PMID: 16030319 Free PMC article.

6

Murine Spam1 mRNA: involvement of AU-rich elements in the 3'UTR and antisense RNA in its tight post-transcriptional regulation in spermatids.

Zhang H, Barnoski BL, Sol-Church K, Stabley DL, Martin-Deleon PA. Zhang H, et al. Mol Reprod Dev. 2006 Feb;73(2):247-55. doi: 10.1002/mrd.20400. Mol Reprod Dev. 2006. PMID: 16250006

7

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2006 Jan 1;140(1):1-7. doi: 10.1002/ajmg.a.31047. Am J Med Genet A. 2006. PMID: 16329078

8

Paternal bias in parental origin of HRAS mutations in Costello syndrome.

Sol-Church K, Stabley DL, Nicholson L, Gonzalez IL, Gripp KW. Sol-Church K, et al. Hum Mutat. 2006 Aug;27(8):736-41. doi: 10.1002/humu.20381. Hum Mutat. 2006. PMID: 16835863

9

Failure of shortening and inversion of the perinatal gubernaculum in the cryptorchid long-evans orl rat.

Barthold JS, Si X, Stabley D, Sol-Church K, Campion L, McCahan SM. Barthold JS, et al. J Urol. 2006 Oct;176(4 Pt 1):1612-7. doi: 10.1016/j.juro.2006.06.063. J Urol. 2006. PMID: 16952701

10

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2006 Oct 15;140(20):2163-9. doi: 10.1002/ajmg.a.31456. Am J Med Genet A. 2006. PMID: 16969868

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