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Page 1
Clinical phenotype of lathosterolosis.
Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G. Rossi M, et al. Among authors: andria g. Am J Med Genet A. 2007 Oct 15;143A(20):2371-81. doi: 10.1002/ajmg.a.31929. Am J Med Genet A. 2007. PMID: 17853487
Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
Rossi M, Di Micco P, Perone L, De Brasi D, Guzzetta V, Andreucci MV, Vega GR, Marzano MG, Iaccarino E, Andria G. Rossi M, et al. Among authors: andria g. Am J Med Genet. 2002 Jul 15;110(4):353-8. doi: 10.1002/ajmg.10440. Am J Med Genet. 2002. PMID: 12116209 Review.
A new patient with Lowry-Wood syndrome with mild phenotype.
Brunetti-Pierri N, De Brasi D, Ikegawa S, Camera G, Andria G, Sebastio G. Brunetti-Pierri N, et al. Among authors: andria g. Am J Med Genet A. 2003 Apr 1;118A(1):68-70. doi: 10.1002/ajmg.a.20008. Am J Med Genet A. 2003. PMID: 12605445
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G. Lonardo F, et al. Among authors: andria g. Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. doi: 10.1016/j.ejmg.2007.04.005. Epub 2007 May 21. Eur J Med Genet. 2007. PMID: 17591464
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.
Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G. Ballabio A, et al. Among authors: andria g. Clin Genet. 1988 Jul;34(1):31-7. doi: 10.1111/j.1399-0004.1988.tb02612.x. Clin Genet. 1988. PMID: 3165728
251 results