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Studi pubblicati nel 2016

Chiabrando D, Castori M, di Rocco M, Voigt M, Gießelmann S, Di Capua M, Madeo A, Grammatico P, Hübner CA, Altruda F, Silengo L, Tolosano E and Kurth I. Mutations in the heme exporter flvcr1 cause sensory neurodegeneration with loss of pain perception. PLOS Genetics Dec 6 2016.

Cosentino I, Zeri F, Swann PG, Majore S, Radio FC, Palumbo P, Grammatico P, Petitti V. Hyperfeerritinemia-cataract syndrome: lung term ophtalmic observation in an Italian family. Ophtalmic Genet Sep 2016

Piceci F, Morlino S, Castori M, Buffone E, De Luca A, Grammatico P, Guida V. Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. Clin Genet 2016, Aug 9

Castori M, Morlino S, Sana ME, Paradisi M, Tadini G, Angioni A, Malacarne M, Grammatico P, Iascone M, Forzano F. Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2. Clin Exp Dermatol Aug 2016.

Bottillo I, Giordano C, Cerbelli B, D'Angelantonio D, Lipari M, Polidori T, Majore S, Bertini E, D'Amico A, Giannarelli D, De Bernardo C, Masuelli L, Musumeci F, Avella A, Re F, Zachara E, d'Amati G, Grammatico P. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female wih Danon disease: a case report and literature review. Cardiovasc Pathol 2016 Jul 25.

Cazzato D, Castori M, Lombardi R, Caravello F, Dallabella E, Petrucci A, Grammatico P, Dordoni C, Colombi M. Small fiber neuropathy is a common feature of Ehlers-Danlos Syndrome. Neurology, 2016 July 12.

Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. Clinical and molecular characterization of a boy woth intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL RAPL1 intragenic rearrangement. Eur J Paediatr Neurol 2016 Jul 11.

Castori M, Servadei F, Laino L, Pascolini G, Fabbri R, Cifani AE, Scassellati Sforzolini G, Silvestri E, Grammatico P. Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetuses. Am J Med Genet A. Mar 2016.

Bottillo I, D’Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Majore S, Castori M, Zachara E, Re F, Grammatico P. Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomiopathy. Data Brief, Mar, 2016.

Bottillo I, D'Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Giannarelli D, Pizzuti A, Majore S, Castori M, Zachara E, Re F, Grammatico P. Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. Feb 15 2016

Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P, Laino L. Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. Birth Defects Res A Clin Mol Teratol. Jan 2016