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Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis.
Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi MM, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Laganà C, Stuppia L, Sabatino G, Palka G. Guanciali-Franchi P, et al. Among authors: morizio e. Am J Med Genet A. 2004 Jun 1;127A(2):144-8. doi: 10.1002/ajmg.a.20691. Am J Med Genet A. 2004. PMID: 15108201
FISH analysis in detecting 9p duplication (p22p24).
Guanciali Franchi P, Calabrese G, Morizio E, Modestini E, Stuppia L, Mingarelli R, Palka G. Guanciali Franchi P, et al. Among authors: morizio e. Am J Med Genet. 2000 Jan 3;90(1):35-7. Am J Med Genet. 2000. PMID: 10602115
Deletion of the SHOX gene in patients with short stature of unknown cause.
Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Verrotti A, Chiarelli F, Calabrese G, Palka G. Morizio E, et al. Am J Med Genet A. 2003 Jun 15;119A(3):293-6. doi: 10.1002/ajmg.a.20198. Am J Med Genet A. 2003. PMID: 12784295
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia.
Calabrese G, Franchi PG, Stuppia L, Mingarelli R, Rossi C, Ramenghi L, Marino M, Morizio E, Peila R, Antonucci A, et al. Calabrese G, et al. Among authors: morizio e. J Med Genet. 1994 Oct;31(10):804-6. doi: 10.1136/jmg.31.10.804. J Med Genet. 1994. PMID: 7837258 Free PMC article.
56 results