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Autore Titolo Tipo [ Anno] Filtri: Autore è Fabretto, Antonella [Clear All Filters]
Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
. Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling. J Crohns Colitis 2014;8(8):770-4.
. Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12. Gene 2012;492(1):315-8.
. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012;158A(4):882-7.
. . Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 2011;43(10):1005-11.
. A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature. J Appl Genet 2011;52(1):77-80.
. A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. Ophthalmic Genet 2010;31(2):98-100.
. Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I. Eur J Med Genet 2010;53(5):322-4.
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