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[Congenital malformations in Italy. A network to monitor the phenomenon].
Carbone P, Taruscio D, Bianchi F, Calzolari E, Scarano G; Coordinamento Nazionale dei Registri delle Malformazioni Congenite. Carbone P, et al. Epidemiol Prev. 2011 Sep-Dec;35(5-6 Suppl 2):90-1. Epidemiol Prev. 2011. PMID: 22166874 Free article. Italian. No abstract available.
Poikiloderma with Neutropenia.
Wang L, Clericuzio C, Larizza L, Concolino D. Wang L, et al. Among authors: concolino d. 2017 Oct 26 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 Oct 26 [updated 2024 Feb 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29072891 Free Books & Documents. Review.
Cerebral and systemic near infrared spectroscopy patterns in preterm infants treated by caffeine.
Strozzi C, Di Battista C, Graziosi A, D'Adamo E, Librandi M, Patacchiola R, Maconi A, Ghiglione V, Pelazzo C, Pasino M, Paterlini G, Bozzetti V, Salvo V, Gazzolo F, Concolino D, Abella L, Spinelli M, Betti M, Bertolotti M, Gazzolo D. Strozzi C, et al. Among authors: concolino d. Acta Paediatr. 2024 Apr;113(4):700-708. doi: 10.1111/apa.17077. Epub 2023 Dec 29. Acta Paediatr. 2024. PMID: 38156367
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
Riillo C, Bonapace G, Moricca MT, Sestito S, Salatino A, Concolino D. Riillo C, et al. Among authors: concolino d. Mol Genet Metab. 2023 Nov;140(3):107700. doi: 10.1016/j.ymgme.2023.107700. Epub 2023 Sep 14. Mol Genet Metab. 2023. PMID: 37774431 Free article.
7p22.2 Microduplication: A Pathogenic CNV?
Bauleo A, Montesanto A, Pace V, Guarasci F, Apa R, Brando R, De Stefano L, Sestito S, Concolino D, Falcone E. Bauleo A, et al. Among authors: concolino d. Genes (Basel). 2023 Jun 19;14(6):1292. doi: 10.3390/genes14061292. Genes (Basel). 2023. PMID: 37372471 Free PMC article.
149 results