Studi pubblicati nel 2019


Pascolini G, Fleischer N, Ferraris A, Majore S, Grammatico P. The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers. J Hum Genet. 2019 Aug.

Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L. TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. Hum Mutat. 2019 Jun 27.

Fusco C, Morlino S, Micale L, Ferraris A, Grammatico P, Castori M. Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders. Genes (Basel).2019 Jun 10.

Han Y, Zhao X, Wang S, Wang C, Tian D, Lang Y, Bottillo I, Wang X, Shao L. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I. Endocrine. 2019 Jun.

Copetti M, Morlino S, Colombi M, Grammatico P, Fontana A, Castori M. Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. Rheumatology (Oxford). 2019 Feb 19.

Pascolini G, Majore S, Valiante M, Bottillo I, Laino L, Agolini E, Novelli A, Grammatico B, Calvani M, Grammatico P. Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene. Psychiatr Genet. 2019 Feb 4.

Catalano M, Preziosi N, Iaquinta G, Testi M, Grammatico P. A new HLA-C*04 variant, HLA-C*04:01:106, discovered in an Italian hematopoietic stem cell donor. HLA. 2019 Jan 20.

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. 2019 Jan;179(1):104-112. doi: 10.1002/ajmg.a.10. Epub 2018 Dec 18.

Rinelli M, Bellacchio E, Berardinelli F, Pascolini G, Grammatico P, Sgura A, Iori AP, Quattrocchi L, Novelli A, Majore S, Agolini E. Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres. Ann Hematol. 2019 Mar;98(3):809.