Boccuto L - Search Results

1

Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.

Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Among authors: boccuto l. Am J Med Genet A. 2021 Dec;185(12):3884-3894. doi: 10.1002/ajmg.a.62412. Epub 2021 Jun 29. Am J Med Genet A. 2021. PMID: 34184825 Review.

2

Fecal Microbiota Transplantation in NAFLD Treatment.

Abenavoli L, Maurizi V, Rinninella E, Tack J, Di Berardino A, Santori P, Rasetti C, Procopio AC, Boccuto L, Scarpellini E. Abenavoli L, et al. Among authors: boccuto l. Medicina (Kaunas). 2022 Oct 30;58(11):1559. doi: 10.3390/medicina58111559. Medicina (Kaunas). 2022. PMID: 36363516 Free PMC article. Review.

3

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

4

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS. Sarasua SM, et al. Among authors: boccuto l. J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7. J Med Genet. 2011. PMID: 21984749

5

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.

6

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR. Sarasua SM, et al. Among authors: boccuto l. Genet Med. 2014 Apr;16(4):318-28. doi: 10.1038/gim.2013.144. Epub 2013 Oct 17. Genet Med. 2014. PMID: 24136618 Free article.

7

Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.

Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC, Phelan K, DuPont BR. Sarasua SM, et al. Among authors: boccuto l. Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31. Hum Genet. 2014. PMID: 24481935

8

Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.

Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE. Phelan K, et al. Among authors: boccuto l. Am J Med Genet A. 2015 Jul;167(7):1679-80. doi: 10.1002/ajmg.a.36788. Am J Med Genet A. 2015. PMID: 26295085 No abstract available.

9

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.

10

Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.

Peterson JF, Bick DP, Geddes GC, McCarrier J, Grignon JW Jr, Chirempes B, Broeckel U, Abidi F, Rogers RC, Boccuto L, DuPont B, vanTuinen P. Peterson JF, et al. Among authors: boccuto l. Am J Med Genet A. 2016 Dec;170(12):3348-3351. doi: 10.1002/ajmg.a.37939. Epub 2016 Aug 23. Am J Med Genet A. 2016. PMID: 27549580 No abstract available.

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