Boccuto L - Search Results

1

Gut Microbiota and Critically Ill Patients: Immunity and Its Modulation via Probiotics and Immunonutrition.

Abenavoli L, Scarpellini E, Paravati MR, Scarlata GGM, Boccuto L, Tilocca B, Roncada P, Luzza F. Abenavoli L, et al. Among authors: boccuto l. Nutrients. 2023 Aug 13;15(16):3569. doi: 10.3390/nu15163569. Nutrients. 2023. PMID: 37630759 Free PMC article. Review.

2

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.

3

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.

Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A. Cerrato F, et al. Among authors: boccuto l. Hum Mol Genet. 2008 May 15;17(10):1427-35. doi: 10.1093/hmg/ddn031. Epub 2008 Feb 1. Hum Mol Genet. 2008. PMID: 18245780 Free article.

4

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz CE, Sadikovic B. Schenkel LC, et al. Among authors: boccuto l. Clin Epigenetics. 2021 Jan 6;13(1):2. doi: 10.1186/s13148-020-00990-7. Clin Epigenetics. 2021. PMID: 33407854 Free PMC article.

5

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

6

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.

7

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.

8

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

9

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

10

Controlling false discoveries in high-dimensional situations: boosting with stability selection.

Hofner B, Boccuto L, Göker M. Hofner B, et al. Among authors: boccuto l. BMC Bioinformatics. 2015 May 6;16:144. doi: 10.1186/s12859-015-0575-3. BMC Bioinformatics. 2015. PMID: 25943565 Free PMC article.

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