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Pure segmental trisomy 1q42-qter in a boy with a severe phenotype.
Percesepe A, Lugli L, Pierluigi M, Cavani S, Malacarne M, Roversi MF, Ferrari F, Forabosco A. Percesepe A, et al. Am J Med Genet A. 2007 Oct 1;143A(19):2339-42. doi: 10.1002/ajmg.a.31890. Am J Med Genet A. 2007. PMID: 17702013 No abstract available.
Genes and translocations involved in POF.
Schlessinger D, Herrera L, Crisponi L, Mumm S, Percesepe A, Pellegrini M, Pilia G, Forabosco A. Schlessinger D, et al. Among authors: percesepe a. Am J Med Genet. 2002 Aug 15;111(3):328-33. doi: 10.1002/ajmg.10565. Am J Med Genet. 2002. PMID: 12210333 Review.
Pre- and post-natal growth in two sisters with 3-M syndrome.
Lugli L, Bertucci E, Mazza V, Elmakky A, Ferrari F, Neuhaus C, Percesepe A. Lugli L, et al. Among authors: percesepe a. Eur J Med Genet. 2016 Apr;59(4):232-6. doi: 10.1016/j.ejmg.2016.01.009. Epub 2016 Feb 2. Eur J Med Genet. 2016. PMID: 26850509
130 results