Stabley DL[Author] - Search Results

Year	Number of Results
1996	1
1997	1
2002	3
2005	1
2006	4
2007	3
2008	1
2009	2
2010	1
2011	3
2012	4
2013	4
2014	2
2015	4
2016	1
2017	4
2019	1
2020	2
2021	1
2022	0

1

Evolution of placental proteases.

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

2

Medically actionable comorbidities in adults with Costello syndrome.

Shikany AR, Baker L, Stabley DL, Robbins K, Doyle D, Gripp KW, Weaver KN. Shikany AR, et al. Among authors: stabley dl. Am J Med Genet A. 2020 Jan;182(1):130-136. doi: 10.1002/ajmg.a.61394. Epub 2019 Nov 3. Am J Med Genet A. 2020. PMID: 31680412

3

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.

Stabley DL, Holbrook J, Scavina M, Crawford TO, Swoboda KJ, Robbins KM, Butchbach MER. Stabley DL, et al. Neurogenetics. 2021 Mar;22(1):53-64. doi: 10.1007/s10048-020-00630-5. Epub 2021 Jan 7. Neurogenetics. 2021. PMID: 33415588

4

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.

Gripp KW, Baker L, Robbins KM, Stabley DL, Bellus GA, Kolbe V, Nauth T, Rosenberger G. Gripp KW, et al. Among authors: stabley dl. Eur J Hum Genet. 2020 Nov;28(11):1548-1554. doi: 10.1038/s41431-020-0662-4. Epub 2020 Jun 4. Eur J Hum Genet. 2020. PMID: 32499600 Free PMC article.

5

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review.

Papadopoulou E, Sifakis S, Sol-Church K, Klein-Zighelboim E, Stabley DL, Raissaki M, Gripp KW, Kalmanti M. Papadopoulou E, et al. Among authors: stabley dl. Am J Med Genet A. 2011 Mar;155A(3):605-11. doi: 10.1002/ajmg.a.33787. Epub 2011 Feb 18. Am J Med Genet A. 2011. PMID: 21337689 Review.

6

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.

Cartledge DM, Robbins KM, Drake KM, Sternberg R, Stabley DL, Gripp KW, Kolb EA, Sol-Church K, Napper AD. Cartledge DM, et al. Among authors: stabley dl. Front Oncol. 2017 Apr 3;7:42. doi: 10.3389/fonc.2017.00042. eCollection 2017. Front Oncol. 2017. PMID: 28421158 Free PMC article.

7

Normative growth charts for individuals with Costello syndrome.

Sammon MR, Doyle D, Hopkins E, Sol-Church K, Stabley DL, McGready J, Schulze K, Alade Y, Hoover-Fong J, Gripp KW. Sammon MR, et al. Among authors: stabley dl. Am J Med Genet A. 2012 Nov;158A(11):2692-9. doi: 10.1002/ajmg.a.35534. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887473

8

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. Among authors: stabley dl. 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.

9

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. Among authors: stabley dl. 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

10

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. Among authors: stabley dl. 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.

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