Studi pubblicati nel 2018

Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Clin Genet. Jan;93(1):126-133,2018

Bottillo I, La Starza R, Radio FC, Molica C, Pedace L, Pierini T, De Bernardo C, Stingeni L, Bargiacchi S, Paiardini A, Janson G, Mecucci C, Grammatico P A novel germline mutation in CDK4 codon 24 associated to familial melanoma. Clin Genet. Apr;93(4):934-935,2018.

D'Andrea E, Lagerberg T, De Vito C, Pitini E, Marzuillo C, Massimi A, Vacchio MR, Grammatico P, Villari P. Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. Eur J Hum Genet. Apr;26(4):518-526,2018

Pascolini G, Agolini E, Majore S, Novelli A, Grammatico P, Digilio MC. Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. Eur J Paediatr Neurol. May;22(3):552-557,2018.

Pascolini G, Valiante M, Majore S, Cariola F, Laino L, Calvani M, Grammatico P. Incidental finding of an Xq microdeletion in a girl with Trichorhinophalangeal Syndrome Type I harboring a novel TRPS1 Nonsense mutation. Minerva Pediatr. Apr 12. doi: 10.23736/S0026-4946.18.05011-9,2018

Matteocci A, Mancuso T, Pirelli F, Hailemariam T, Moscetti A, Castagna K, Collaretti A, Rogai L, Nespoli G, Grammatico P, Pierelli L.Two novel RHD alleles encoding truncated, nonfunctional D polypeptides. Transfusion. Aug;58(8):2082-2083,2018.

D'Andrea E, Lagerberg T, De Vito C, Pitini E, Marzuillo C, Massimi A, Vacchio MR, Grammatico P, Villari P. Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. Eur J Hum Genet. Sep;26(9):1398. doi: 10.1038/s41431-018-0186-3, 2018.

Rinelli M, Bellacchio E, Berardinelli F, Pascolini G, Grammatico P, Sgura A, Iori AP, Quattrocchi L, Novelli A, Majore S, Agolini E. Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. Ann Hematol. Jul 6. doi: 10.1007/s00277-018-3415-5,2018.

Piedimonte C, Penge R, Morlino S, Sperduti I, Terzani A, Giannini MT, Colombi M, Grammatico P, Cardona F, Castori M.Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder. Am J Med Genet B Neuropsychiatr Genet. Sep;177(6):546-556,2018.

Scherl KC, Leonetti E, Laino L ì Gigantino V, Grammatico P, Bizzari M, Franco R, Oosterhuis WJ, Looijenga LHJ, Ricci G, Catizone A. c-MET receptor as potential biomarker and target molecule for Testicular Germ Cell Tumours. Oncotarget. Aug 7;9(61):31842-31860,2018.

Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A. LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant. Am J Med Genet A. 2018 Dec 18.