Sfoglia per Autore
Sindrome di Cornelia de Lange in un paziente portatore della Traslocazione t(5;15)(p13;q25.1): possibile effetto di posizione su NIPBL
2009 M. Crippa, D. Rusconi, C. Castronovo, M. Masciadri, S. Russo, C. Gervasini, D. Giardino, A. Selicorni, P.G. Flora, L. Memo, L. Larizza, P. Finelli
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region
2011 P. Finelli, M. Crippa, E. Valtorta, C. Castronovo, M. Masciadri, S. Russo, M. Recalcati, D. Rusconi, D. Giardino, M. Bonati, F. Natacci, P. Castelluccio, L. Larizza
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
2013 C. Castronovo, E. Valtorta, M. Crippa, S. Tedoldi, L. Romitti, M.C. Amione, S. Guerneri, D. Rusconi, L. Ballarati, D. Milani, E. Grosso, P. Cavalli, D. Giardino, M.T. Bonati, L. Larizza, P. Finelli
RARE DE NOVO AND TRANSMITTED COPY NUMBER VARIATIONS IN AUTISM SPECTRUM DISORDERS: IMPLICATIONS FOR FUNCTIONAL NETWORKS OF GENES INVOLVED IN NEUROGENESIS, NEURONAL METABOLISM, SYNAPTIC FUNCTION, NEUROIMMUNITY, INTRACELLULAR SIGNALING AND CHROMATIN REMODELING
2013 C. Castronovo
Submicroscopic genomic alterations detected by array CGH analysis in a cohort of patients with Silver Russell syndrome found negative to classical genetic and epigenetic tests
2013 C. Picinelli, S. Galletti, L. Calzari, M. Crippa, I. Bestetti, C. Castronovo, S. Cuzzetti, S. Russo, L. Larizza, P. Finelli
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome
2014 C. Castronovo, R. Rossetti, D. Rusconi, M.P. Recalcati, C. Cacciatore, E. Beccaria, V. Calcaterra, P. Invernizzi, D. Larizza, P. Finelli, L. Persani
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
2014 M. Crippa, I. Bestetti, M. Perotti, C. Castronovo, S. Tabano, C. Picinelli, G. Grassi, L. Larizza, A.I. Pincelli, P. Finelli
Identification of rare CNVs involving genes acting in oocyte maturation and differentiation in a cohort of patients affected by Primary Ovarian Insufficiency
2014 I. Bestetti, C. Castronovo, M. Crippa, R. Rossetti, A. Pistocchi, C. Caslini, C. Sala, D. Toniollo, L. Persani, A. Marozzi, P. Finelli
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature.
2015 C. Castronovo, M. Crippa, I. Bestetti, D. Rusconi, S. Russo, L. Larizza, R. Sangermani, M. Bonati, P. Finelli
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
2015 M. Crippa, D. Rusconi, C. Castronovo, I. Bestetti, S. Russo, A. Cereda, A. Selicorni, L. Larizza, P. Finelli
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
2017 M..T. Bonati, F. Verde, U. Hladnik, P. Cattelan, L. Campana, C. Castronovo, N. Ticozzi, L. Maderna, C. Colombrita, S. Papa, P. Banfi, V. Silani
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature
2018 I. Bestetti, A. Sironi, I. Catusi, M. Mariani, D. Giardino, S. Manoukian, D. Milani, L. Larizza, C. Castronovo, P. Finelli
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
2018 V. Cirello, V. Giorgini, C. Castronovo, S. Marelli, E. Mainini, A. Sironi, M. Recalcati, M. Pessina, D. Giardino, L. Larizza, L. Persani, P. Finelli, S. Russo, L. Fugazzola
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
2019 M. Bonati, C. Castronovo, A. Sironi, D. Zimbalatti, I. Bestetti, M. Crippa, A. Novelli, S. Loddo, M. Dentici, J. Taylor, F. Devillard, L. Larizza, P. Finelli
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