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251 results

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Page 1
The Williams syndrome: an Italian collaborative study.
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Mastroiacovo P, Gianotti A, Livini E, Lalatta F, Selicorni A, Andria G, Scarano G, Della Monica M, Rizzo R, Zelante L, Stabile M, Gabrielli O, Neri G. Franceschini P, et al. Among authors: andria g. Minerva Pediatr. 1996 Oct;48(10):421-8. Minerva Pediatr. 1996. PMID: 9017917
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
Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S, Pomponi MG, Mazzei A, Neri G, Andria G, Brahe C. Sebastio G, et al. Among authors: andria g. Am J Med Genet. 1996 May 17;63(2):366-72. doi: 10.1002/(SICI)1096-8628(19960517)63:2<366::AID-AJMG8>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8725787
Spina bifida, 677T-->C mutation, and role of folate.
de Franchis R, Sebastio G, Mandato C, Andria G, Mastroiacovo P. de Franchis R, et al. Among authors: andria g. Lancet. 1995 Dec 23-30;346(8991-8992):1703. doi: 10.1016/s0140-6736(95)92865-0. Lancet. 1995. PMID: 8551837 No abstract available.
Prevalence and clinical picture of celiac disease in italian down syndrome patients: a multicenter study.
Bonamico M, Mariani P, Danesi HM, Crisogianni M, Failla P, Gemme G, Quartino AR, Giannotti A, Castro M, Balli F, Lecora M, Andria G, Guariso G, Gabrielli O, Catassi C, Lazzari R, Balocco NA, De Virgiliis S, Culasso F, Romano C; SIGEP (Italian Society of Pediatric Gastroenterology and Hepatology) and Medical Genetic Group. Bonamico M, et al. Among authors: andria g. J Pediatr Gastroenterol Nutr. 2001 Aug;33(2):139-43. doi: 10.1097/00005176-200108000-00008. J Pediatr Gastroenterol Nutr. 2001. PMID: 11568513
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