Sol-Church K - Search Results

1

HRAS-Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia.

Rodríguez NA, Patel N, Dariolli R, Ng S, Aleman AG, Gong JQX, Lin HM, Rodríguez M, Josowitz R, Sol-Church K, Gripp KW, Lin X, Song SC, Fishman GI, Sobie EA, Gelb BD. Rodríguez NA, et al. Among authors: sol church k. Circ Arrhythm Electrophysiol. 2024 Apr;17(4):e012022. doi: 10.1161/CIRCEP.123.012022. Epub 2024 Feb 28. Circ Arrhythm Electrophysiol. 2024. PMID: 38415356

2

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

3

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

4

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

Gripp KW, Hopkins E, Serrano A, Leonard NJ, Stabley DL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2012 May;158A(5):1095-101. doi: 10.1002/ajmg.a.35294. Epub 2012 Apr 9. Am J Med Genet A. 2012. PMID: 22488832 Free PMC article.

5

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, Lapointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2008 Mar 15;146A(6):683-90. doi: 10.1002/ajmg.a.32227. Am J Med Genet A. 2008. PMID: 18247425

6

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE. Gripp KW, et al. Am J Med Genet A. 2011 Apr;155A(4):706-16. doi: 10.1002/ajmg.a.33884. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21438134 Free PMC article.

7

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, Carey JC, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2011 Sep;155A(9):2263-8. doi: 10.1002/ajmg.a.34150. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834037 Free PMC article.

8

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

Gripp KW, Bifeld E, Stabley DL, Hopkins E, Meien S, Vinette K, Sol-Church K, Rosenberger G. Gripp KW, et al. Am J Med Genet A. 2012 Sep;158A(9):2106-18. doi: 10.1002/ajmg.a.35449. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821884 Free PMC article.

9

Assessing genotype-phenotype correlation in Costello syndrome using a severity score.

McCormick EM, Hopkins E, Conway L, Catalano S, Hossain J, Sol-Church K, Stabley DL, Gripp KW. McCormick EM, et al. Genet Med. 2013 Jul;15(7):554-7. doi: 10.1038/gim.2013.6. Epub 2013 Feb 21. Genet Med. 2013. PMID: 23429430 Free article.

10

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Bertola D, Buscarilli M, Stabley DL, Baker L, Doyle D, Bartholomew DW, Sol-Church K, Gripp KW. Bertola D, et al. Am J Med Genet A. 2017 May;173(5):1309-1318. doi: 10.1002/ajmg.a.38178. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371260 Free PMC article.

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