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Plos One|June 22, 2012
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sElena Rossi, Roberto Giorda, Maria Clara Bonaglia, et al.
Journal of the American Society of Nephrology : JASN|July 26, 2014
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppressionSabrina Giglio, Aldesia Provenzano, Benedetta Mazzinghi, et al.
Frontiers in Immunology|May 6, 2022
A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian PopulationStefano Mocci, Roberto Littera, Stefania Tranquilli, et al.
European Journal of Medical Genetics|May 10, 2023
SMARCE1-related meningiomas: A clear example of cancer predisposing syndromeErika Fiorentini, Laura Giunti, Andrea Di Rita, et al.
BMC Cancer|February 2, 2019
Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic reviewErsilia Lucenteforte, Alfredo Vannacci, Giada Crescioli, et al.
American Journal of Human Genetics|June 12, 2002
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocationSabrina Giglio, Vladimiro Calvari, Giuliana Gregato, et al.
Frontiers in Immunology|May 16, 2022
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the LiteratureBoaz Palterer, Lorenzo Salvati, Manuela Capone, et al.
BMJ Open Respiratory Research|July 30, 2026
Telomere dysfunction and mucociliary impairment drive idiopathic pulmonary fibrosis susceptibility: insights from a Sardinian whole-exome studyStefano Mocci, Roberto Littera, Silvia Deidda, et al.
Journal of the American Society of Nephrology : JASN|January 9, 2015
Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney DisordersElena Lazzeri, Elisa Ronconi, Maria Lucia Angelotti, et al.
Journal of Medical Genetics|January 9, 2007
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patientsLucia Ballarati, Elena Rossi, Maria Teresa Bonati, et al.
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