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A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.
Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M. Caputo V, et al. Among authors: andria g. Am J Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011. Am J Hum Genet. 2012. PMID: 22243968 Free PMC article.
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b.
Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Balivo F, Piccolo P, Di Somma C, Colao A, Andria G. Melis D, et al. Among authors: andria g. J Pediatr. 2010 Apr;156(4):663-70.e1. doi: 10.1016/j.jpeds.2009.10.032. Epub 2009 Dec 21. J Pediatr. 2010. PMID: 20022338
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
251 results