Boccuto L - Search Results

1

New Strategies for Clinical Trials in Autism Spectrum Disorder.

Pauly R, Ziats CA, Abenavoli L, Schwartz CE, Boccuto L. Pauly R, et al. Among authors: boccuto l. Rev Recent Clin Trials. 2021;16(2):131-137. doi: 10.2174/1574887115666201120093634. Rev Recent Clin Trials. 2021. PMID: 33222679 Review.

2

Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan-McDermid syndrome.

Mitz AR, Boccuto L, Thurm A. Mitz AR, et al. Among authors: boccuto l. Clin Genet. 2024 May;105(5):459-469. doi: 10.1111/cge.14503. Epub 2024 Feb 27. Clin Genet. 2024. PMID: 38414139 Review.

3

Incidental Findings in Study Participants: What Is the Researcher's Obligation?

Schaare D, Ward LD, Boccuto L. Schaare D, et al. Among authors: boccuto l. Genes (Basel). 2022 Sep 22;13(10):1702. doi: 10.3390/genes13101702. Genes (Basel). 2022. PMID: 36292587 Free PMC article.

4

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.

Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE. Lyons MJ, et al. Among authors: boccuto l. J Med Genet. 2009 Jan;46(1):9-13. doi: 10.1136/jmg.2008.060509. Epub 2008 Sep 19. J Med Genet. 2009. PMID: 18805826

5

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder.

Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE. Jackson PB, et al. Among authors: boccuto l. Autism Res. 2009 Aug;2(4):232-6. doi: 10.1002/aur.87. Autism Res. 2009. PMID: 19681062

6

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.

Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL. Carter MT, et al. Among authors: boccuto l. Am J Med Genet A. 2011 Feb;155A(2):301-6. doi: 10.1002/ajmg.a.33841. Am J Med Genet A. 2011. PMID: 21271646

7

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE. Boccuto L, et al. Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15. Eur J Hum Genet. 2013. PMID: 22892527 Free PMC article.

8

Decreased tryptophan metabolism in patients with autism spectrum disorders.

Boccuto L, Chen CF, Pittman AR, Skinner CD, McCartney HJ, Jones K, Bochner BR, Stevenson RE, Schwartz CE. Boccuto L, et al. Mol Autism. 2013 Jun 3;4(1):16. doi: 10.1186/2040-2392-4-16. Mol Autism. 2013. PMID: 23731516 Free PMC article.

9

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.

Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. Boccuto L, et al. Hum Mol Genet. 2014 Jan 15;23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026681 Free PMC article.

10

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Oberman LM, et al. Among authors: boccuto l. Orphanet J Rare Dis. 2015 Aug 27;10:105. doi: 10.1186/s13023-015-0323-9. Orphanet J Rare Dis. 2015. PMID: 26306707 Free PMC article.

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