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Young boy with a long history of splenomegaly and cytopenia.
De Nardi L, Zanchi C, Basso L, Sanabor D, Di Leo G, Barbi E. De Nardi L, et al. Arch Dis Child Educ Pract Ed. 2020 Oct 15:edpract-2019-318626. doi: 10.1136/archdischild-2019-318626. Online ahead of print. Arch Dis Child Educ Pract Ed. 2020. PMID: 33060125
The Reference Site Collaborative Network of the European Innovation Partnership on Active and Healthy Ageing.
Bousquet J, Illario M, Farrell J, Batey N, Carriazo AM, Malva J, Hajjam J, Colgan E, Guldemond N, Perälä-Heape M, Onorato GL, Bedbrook A, Leonardini L, Stroetman V, Birov S, Abreu C, Abrunhosa A, Agrimi A, Alalääkkölä T, Allegretti N, Alonso-Trujillo F, Álvarez-Benito M, Angioli S, Apóstolo J, Armitage G, Arnavielhe S, Baena-ParejoI M, Bamidis PD, Balenović A, Barbolini M, Baroni I, Blain H, Bernard PL, Bersani M, Berti E, Bogatyrchuk L, Bourret R, Brehm J, Brussino L, Buhr D, Bultje D, Cabeza E, Cano A, De Capitani C, Carantoña E, Cardoso A, Coll Clavero JI, Combe B, Conforti D, Coppola L, Corti F, Coscioni E, Costa E, Crooks G, Cunha A, Daien C, Dantas, Darpón Sierra J, Davoli M, Dedeu Baraldes A, De Luca V, De Nardi L, Di Ciano M, Dozet A, Ekinci B, Erve S, Espinoza Almendro JM, Fait A, Fensli R, Fernandez Nocelo S, Gálvez-Daza P, Gámez-Payá J, García Sáez M, Garcia Sanchez I, Gemicioğlu B, Goetzke W, Goossens E, Geurdens M, Gütter Z, Hansen H, Hartman S, Hegendörfer G, Heikka H, Henderson D, Héran D, Hirvonen S, Iaccarino G, Jansson N, Kallasvaara H, Kalyoncu F, Kirchmayer U, Kokko JA, Korpelainen J, Kostka T, Kuna P, Lajarín Ortega T, Lama CM, Laune D, Lauri D, Ledroit V, Levato G, Lewis L, Liotta G, Lundgren L, Lupiañez-Villanueva F, Mc Garry P, Maggio M, Manuel de Keenoy E, Martinez C, Martínez-Domene M, Martínez-Lozano Aranaga B, Massimilliano M, Maurizio A, Mayora O, Melle C, Mendez-Zorilla A, Mengon H, Mercier G, Mercier J, Meyer I, Millet Pi-Figueras A, Mitsias P, Molloy DW, Monti R, Moro ML, Muranko H, Nalin M, Nobili A, Noguès M, O'Caoimh R, Pais S, Papini D, Parkkila P, Pattichis C, Pavlickova A, Peiponen A, Pereira S, Pépin JL, Piera Jiménez J, Portheine P, Potel L, Pozzi AC, Quiñonez P, Ramirez Lauritsen X, Ramos MJ, Rännäli-Kontturi A, Risino A, Robalo-Cordeiro C, Rolla G, Roller R, Romano M, Romano V, Ruiz-Fernández J, Saccavini C, Sachinopoulou A, Sánchez Rubio MJ, Santos L, Scalvini S, Scopetani E, Smedberg D, Solana-Lara R, Sołtysik B, Sorlini M, Stericker S, Stramba Badiale M, Taillieu I, Tervahauta M, Teixeira A, Tikanmäki H, Todo-Bom A, Tooley A, Tuulonen A, Tziraki C, Ussai S, Van der Veen S, Venchiarutti A, Verdoy-Berastegi D, Verissimo M, Visconti L, Vollenbroek-Hutten M, Weinzerl K, Wozniak L, Yorgancıoğlu A, Zavagli V, Zurkuhlen AJ. Bousquet J, et al. Among authors: de nardi l. Transl Med UniSa. 2019 Jan 6;19:66-81. eCollection 2019 Jan-Jun. Transl Med UniSa. 2019. PMID: 31360670 Free PMC article.
Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L, Faletra F, D'Adamo AP, Bianco AMR, Athanasakis E, Bruno I, Barbi E. De Nardi L, et al. Am J Med Genet A. 2021 Feb;185(2):584-590. doi: 10.1002/ajmg.a.61994. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258286
Involvement of DAT1 Gene on Internet Addiction: Cross-Correlations of Methylation Levels in 5'-UTR and 3'-UTR Genotypes, Interact with Impulsivity and Attachment-Driven Quality of Relationships.
De Nardi L, Carpentieri V, Pascale E, Pucci M, D'Addario C, Cerniglia L, Adriani W, Cimino S. De Nardi L, et al. Int J Environ Res Public Health. 2020 Oct 29;17(21):7956. doi: 10.3390/ijerph17217956. Int J Environ Res Public Health. 2020. PMID: 33138218 Free PMC article.
Don't just look at the surface: when mucosa tells more than the skin.
Trombetta A, De Nardi L, Barbi E, Declich V, Dall'Amico R. Trombetta A, et al. Among authors: de nardi l. Arch Dis Child Educ Pract Ed. 2021 Jan 27:edpract-2020-319195. doi: 10.1136/archdischild-2020-319195. Online ahead of print. Arch Dis Child Educ Pract Ed. 2021. PMID: 33504471 No abstract available.
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