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Page 1
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. De Gregori M, et al. Among authors: messa j. J Med Genet. 2007 Dec;44(12):750-62. doi: 10.1136/jmg.2007.052787. Epub 2007 Aug 31. J Med Genet. 2007. PMID: 17766364 Free PMC article.
Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.
Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O. Rossi E, et al. Among authors: messa j. J Med Genet. 2008 Mar;45(3):147-54. doi: 10.1136/jmg.2007.054007. Epub 2007 Nov 15. J Med Genet. 2008. PMID: 18006671 Free article.
Ring syndrome: still true?
Rossi E, Messa J, Zuffardi O. Rossi E, et al. Among authors: messa j. J Med Genet. 2008 Nov;45(11):766-8. doi: 10.1136/jmg.2008.060442. J Med Genet. 2008. PMID: 18978335 No abstract available.
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O. Vetro A, et al. Among authors: messa j. Hum Mutat. 2015 May;36(5):562-8. doi: 10.1002/humu.22784. Epub 2015 Apr 7. Hum Mutat. 2015. PMID: 25754594
Clustering COVID-19 ARDS patients through the first days of ICU admission. An analysis of the CIBERESUCICOVID Cohort.
Ceccato A, Forne C, Bos LD, Camprubí-Rimblas M, Areny-Balagueró A, Campaña-Duel E, Quero S, Diaz E, Roca O, De Gonzalo-Calvo D, Fernández-Barat L, Motos A, Ferrer R, Riera J, Lorente JA, Peñuelas O, Menendez R, Amaya-Villar R, Añón JM, Balan-Mariño A, Barberà C, Barberán J, Blandino-Ortiz A, Boado MV, Bustamante-Munguira E, Caballero J, Carbajales C, Carbonell N, Catalán-González M, Franco N, Galbán C, Gumucio-Sanguino VD, de la Torre MDC, Estella Á, Gallego E, García-Garmendia JL, Garnacho-Montero J, Gómez JM, Huerta A, Jorge-García RN, Loza-Vázquez A, Marin-Corral J, Martínez de la Gándara A, Martin-Delgado MC, Martínez-Varela I, Messa JL, Muñiz-Albaiceta G, Nieto MT, Novo MA, Peñasco Y, Pozo-Laderas JC, Pérez-García F, Ricart P, Roche-Campo F, Rodríguez A, Sagredo V, Sánchez-Miralles A, Sancho-Chinesta S, Socias L, Solé-Violan J, Suarez-Sipmann F, Tamayo-Lomas L, Trenado J, Úbeda A, Valdivia LJ, Vidal P, Bermejo J, Gonzalez J, Barbe F, Calfee CS, Artigas A, Torres A; CIBERESUCICOVID Project. Ceccato A, et al. Among authors: messa jl. Crit Care. 2024 Mar 21;28(1):91. doi: 10.1186/s13054-024-04876-5. Crit Care. 2024. PMID: 38515193 Free PMC article.
25 results