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Page 1
Association between intestinal microflora and obesity.
Savytska M, Kozyk M, Strubchevska K, Yosypenko K, Falalyeyeva T, Kobyliak N, Boccuto L, Pellicano R, Fagoonee S, Scarpellini E, Abenavoli L. Savytska M, et al. Among authors: boccuto l. Minerva Gastroenterol (Torino). 2023 Mar 21. doi: 10.23736/S2724-5985.23.03379-X. Online ahead of print. Minerva Gastroenterol (Torino). 2023. PMID: 36943206
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.
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.
Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.
Ceglie G, Del Baldo G, Agolini E, Rinelli M, Cacchione A, Del Bufalo F, Vinci M, Carta R, Boccuto L, Miele E, Mastronuzzi A, Locatelli F, Carai A. Ceglie G, et al. Among authors: boccuto l. Front Pediatr. 2020 Nov 12;8:561487. doi: 10.3389/fped.2020.561487. eCollection 2020. Front Pediatr. 2020. PMID: 33282797 Free PMC article. Review.
Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.
Del Baldo G, Carta R, Alessi I, Merli P, Agolini E, Rinelli M, Boccuto L, Milano GM, Serra A, Carai A, Locatelli F, Mastronuzzi A. Del Baldo G, et al. Among authors: boccuto l. Front Oncol. 2021 Feb 22;11:586288. doi: 10.3389/fonc.2021.586288. eCollection 2021. Front Oncol. 2021. PMID: 33692948 Free PMC article. Review.
Corrigendum: Childhood Vascular Tumors.
Hinen HB, Boccuto L, Trenor CC 3rd, Wine Lee L. Hinen HB, et al. Among authors: boccuto l. Front Pediatr. 2021 Feb 24;9:649610. doi: 10.3389/fped.2021.649610. eCollection 2021. Front Pediatr. 2021. PMID: 33718312 Free PMC article.
Overgrowth in myth and art.
Boccuto L, Neri G. Boccuto L, et al. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):176-181. doi: 10.1002/ajmg.c.31910. Epub 2021 May 13. Am J Med Genet C Semin Med Genet. 2021. PMID: 33982857
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L. Cooley Coleman JA, et al. Among authors: boccuto l. Hum Mol Genet. 2023 Apr 20;32(9):1457-1465. doi: 10.1093/hmg/ddac296. Hum Mol Genet. 2023. PMID: 36458889
133 results