Emanuela Anna Roselli1, Silvia Lazzati1, Federico Iseppon1, Massimiliano Manganini2, Livia Marcato1, Marzia Gariboldi3, Francesca Romana Grati1, Federico Maggi1 and Giuseppe Simoni1 1: Research & Development, Cytogenetics and Molecular Biology, TOMA Advanced Biomedical Assays S.p.A., 21052 Busto Arsizio (VA), Italy 2: Biocell Center S.p.A, Viale Stelvio 125, 21052 Busto Arsizio (VA), Italy 3: Dipartimento di Biologia [...]

Rapid and novel prenatal molecular assay for detecting

aneuploidies and microdeletion syndromes

PRENATAL DIAGNOSIS Prenat Diagn 2010; 30: 280–283. Published online 4 January 2010 in Wiley InterScience (www.interscience.wiley.com) DOI: 10.1002/pd.2439 RESEARCH LETTER Prenatal diagnosis of del(4)(q27q31.23), due to a maternal balanced complex chromosome rearrangement, characterized by array-CGH Francesca Malvestiti1* , Simona De Toffol1, Sara Chinetti1, Beatrice Grimi1, Giancarlo Favero2, Alessandro Borsatti3, Federico Maggi1, Giuseppe Simoni1 and Francesca [...]

Misbehaviour of XIST RNA in Breast Cancer Cells Silvia M. Sirchia1*, Silvia Tabano1, Laura Monti1, Maria P. Recalcati2, Manuela Gariboldi3,4, Francesca R. Grati5, Giovanni Porta6, Palma Finelli2,7, Paolo Radice3,4, Monica Miozzo1 1 Department of Medicine, Surgery and Dentistry, Medical Genetics Unit, Universita` degli Studi di Milano, Milano, Italy, 2 Laboratory of Medical Cytogenetics and Molecular [...]

RESEARCH ARTICLE Pure Monosomy and Pure Trisomy of 13q21.2–31.1 Consequent to a Familial Insertional Translocation: Exclusion of PCDH9 as the Responsible Gene for Autosomal Dominant Auditory Neuropathy (AUNA1) Francesca R. Grati,1* Marci M. Lesperance,2 Simona De Toffol,1 Sara Chinetti,1 Angelo Selicorni,3 Sarah Emery,2 Beatrice Grimi,1 Francesca Dulcetti,1 Barbara Malvestiti,1 Joseph Taylor,3 Silvia Milani,1 Anna M. [...]

Placental IGF2 Expression in Normal and Intrauterine Growth Restricted (IUGR) Pregnancies P. Antonazzo G. Alvino V. Cozzi F.R. Grati Unit of Cytogenetics, TOMA Laboratory, Busto Arsizio, Varese, Italy S. Tabano S. Sirchia M. Miozzo Medical Genetics, Department of Medicine, Surgery and Dentistry San Paolo, University of Milano, via Di Rudinı` 8, 20142 Milano, Italy I. [...]

Prenatal detection by subtelomeric FISH and MLPA of unbalanced meiotic recombinants resulting from parental pericentric inversions Francesca R. Grati a,*, Sara Chinetti a, Roberta Malgara b, Giulia Rognoni c, Beatrice Grimi a, Simona De Toffol a, Silvia Milani a, Francesca Dulcetti a, Giuditta Frascoli a, Anna Maria Di Meco a, Rosaria Liuti a, Anna Trotta [...]

Veterinary Research Communications, 31(Suppl. 1) (2007) 205–207 DOI: 10.1007/s11259-007-0095-3 # Springer 2007 Fetal Microchimerism in Normal and Embryo Transfer Bovine Pregnancies L. Turin1,*, G. Tribbioli1, P. Invernizzi2, F.R. Grati2,3, S. Crema1, G. Laible4 and F. Riva1 1Dipartimento di Patologia Animale, Igiene e Sanita` Pubblica Veterinaria, Universita` di Milano, Via Celoria 10, 20133, Milano, Italy; 2Dipartimento [...]

AUTOIMMUNE, CHOLESTATIC, AND BILIARY DISEASE Preferential X Chromosome Loss But Random Inactivation Characterize Primary Biliary Cirrhosis Monica Miozzo,1,* Carlo Selmi,2,3,* Barbara Gentilin,1 Francesca R. Grati,1,4 Silvia Sirchia,1 Sabine Oertelt,2,3 Massimo Zuin,2 M. Eric Gershwin,3 Mauro Podda,2 and Pietro Invernizzi2 Recent work has demonstrated enhanced X monosomy in women with primary biliary cirrhosis (PBC) as well [...]

doi:10.1136/jmg.2006.046854 J. Med. Genet. 2007;44;257-263; originally published online 26 Jan 2007; Laurino, R Boldorini, E Frate, N Surico, L Larizza, F Maggi and G Simoni F R Grati, L Turolla, P D’Ajello, A Ruggeri, M Miozzo, G Bracalente, D Baldo, L in Beckwith–Wiedemann syndrome new highlights on phenotype–genotype correlations amniocytes from two fetuses with omphalocoele: Chromosome [...]