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Studi pubblicati nel 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.

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 2018.

Zhang R, Wang J, Wang Q, Han Y, Liu X, Bottillo I, Lang Y, Shao L. Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report. BMC Med Genet. 2018 Sep 20.

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 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 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 2018.

Lu J, Zhao X, Paiardini A, Lang Y, Bottillo I, Shao L. Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report. BMC Nephrol. 2018 Jul 13.

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 2018.

Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA. Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. Eur J Hum Genet. 2018 Jun 11.

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 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 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 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 2018

Shao L, Cui L, Lu J, Lang Y, Bottillo I, Zhao X. A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. FEBS Open Bio. 2018 Feb 10.

Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G. Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis. Biochim Biophys Acta Mol Basis Dis. 2018 Feb.

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 2018.