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Epigenomics|August 3, 2018
Very preterm birth is associated with PLAGL1 gene hypomethylation at birth and dischargeLivio Provenzi, Pietro De Carli, Monica Fumagalli, et al.European Journal of Human Genetics : EJHG|October 16, 2008
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversionMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.Human Mutation|March 22, 2007
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocationRenata Bocciardi, Roberto Giorda, Jens Buttgereit, et al.European Journal of Medical Genetics|June 29, 2011
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-ocPatrizia De Marco, Alessandro Raso, Silvana Beri, et al.Journal of Medical Genetics|January 31, 2018
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)Nehir Kurtas, Filippo Arrigoni, Edoardo Errichiello, et al.European Journal of Human Genetics : EJHG|July 22, 2010
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletionsMaria C Bonaglia, Susan Marelli, Francesca Novara, et al.Human Mutation|October 21, 2010
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tractStefania Gimelli, Gianluca Caridi, Silvana Beri, et al.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.European Journal of Human Genetics : EJHG|October 30, 2014
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3Annalisa Vetro, Mohammad Reza Dehghani, Lilia Kraoua, et al.Human Genetics|October 3, 2018
De novo unbalanced translocations have a complex history/aetiologyMaria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, et al.Pageof 4