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Recurrent duplications of 17q12 associated with variable phenotypes.
Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC. Mitchell E, et al. Among authors: digilio mc. Am J Med Genet A. 2015 Dec;167A(12):3038-45. doi: 10.1002/ajmg.a.37351. Epub 2015 Sep 30. Am J Med Genet A. 2015. PMID: 26420380
New case of Bartsocas-Papas syndrome surviving at 20 months.
Giannotti A, Digilio MC, Standoli L, Zama M, Dallapiccola B. Giannotti A, et al. Among authors: digilio mc. Am J Med Genet. 1992 Mar 1;42(5):733-5. doi: 10.1002/ajmg.1320420522. Am J Med Genet. 1992. PMID: 1632449
Radial aplasia and chromosome 22q11 deletion.
Digilio MC, Giannotti A, Marino B, Guadagni AM, Orzalesi M, Dallapiccola B. Digilio MC, et al. J Med Genet. 1997 Nov;34(11):942-4. doi: 10.1136/jmg.34.11.942. J Med Genet. 1997. PMID: 9391893 Free PMC article.
Anatomic patterns of conotruncal defects associated with deletion 22q11.
Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B. Marino B, et al. Among authors: digilio mc. Genet Med. 2001 Jan-Feb;3(1):45-8. doi: 10.1097/00125817-200101000-00010. Genet Med. 2001. PMID: 11339377 Free article.
424 results