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Page 1
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. Urreizti R, et al. Among authors: cozzuto l. Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138. Sci Rep. 2017. PMID: 28281571 Free PMC article.
An atlas of alternative splicing profiles and functional associations reveals new regulatory programs and genes that simultaneously express multiple major isoforms.
Tapial J, Ha KCH, Sterne-Weiler T, Gohr A, Braunschweig U, Hermoso-Pulido A, Quesnel-Vallières M, Permanyer J, Sodaei R, Marquez Y, Cozzuto L, Wang X, Gómez-Velázquez M, Rayon T, Manzanares M, Ponomarenko J, Blencowe BJ, Irimia M. Tapial J, et al. Among authors: cozzuto l. Genome Res. 2017 Oct;27(10):1759-1768. doi: 10.1101/gr.220962.117. Epub 2017 Aug 30. Genome Res. 2017. PMID: 28855263 Free PMC article.
Citizen science charts two major "stomatotypes" in the oral microbiome of adolescents and reveals links with habits and drinking water composition.
Willis JR, González-Torres P, Pittis AA, Bejarano LA, Cozzuto L, Andreu-Somavilla N, Alloza-Trabado M, Valentín A, Ksiezopolska E, Company C, Onywera H, Montfort M, Hermoso A, Iraola-Guzmán S, Saus E, Labeeuw A, Carolis C, Hecht J, Ponomarenko J, Gabaldón T. Willis JR, et al. Among authors: cozzuto l. Microbiome. 2018 Dec 6;6(1):218. doi: 10.1186/s40168-018-0592-3. Microbiome. 2018. PMID: 30522523 Free PMC article.
The altered transcriptome of pediatric myelodysplastic syndrome revealed by RNA sequencing.
Zubovic L, Piazza S, Tebaldi T, Cozzuto L, Palazzo G, Sidarovich V, De Sanctis V, Bertorelli R, Lammens T, Hofmans M, De Moerloose B, Ponomarenko J, Pigazzi M, Masetti R, Mecucci C, Basso G, Macchi P. Zubovic L, et al. Among authors: cozzuto l. J Hematol Oncol. 2020 Oct 12;13(1):135. doi: 10.1186/s13045-020-00974-3. J Hematol Oncol. 2020. PMID: 33046098 Free PMC article.
Oral microbiome in down syndrome and its implications on oral health.
Willis JR, Iraola-Guzmán S, Saus E, Ksiezopolska E, Cozzuto L, Bejarano LA, Andreu-Somavilla N, Alloza-Trabado M, Puig-Sola A, Blanco A, Broglio E, Carolis C, Hecht J, Ponomarenko J, Gabaldón T. Willis JR, et al. Among authors: cozzuto l. J Oral Microbiol. 2020 Dec 30;13(1):1865690. doi: 10.1080/20002297.2020.1865690. J Oral Microbiol. 2020. PMID: 33456723 Free PMC article.
45 results