CASTRONOVO, CHIARA

CASTRONOVO, CHIARA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 1-set-2018 Bestetti I.Sironi A.Catusi I.Mariani M.Larizza L.Castronovo C.Finelli P. + Article (author) -
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 1-ago-2019 Castronovo CSironi AZimbalatti DBestetti ICrippa MLarizza LFinelli P. + Article (author) -
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype 1-gen-2017 F. VerdeC. CastronovoN. TicozziC. ColombritaV. Silani + Article (author) -
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. 1-gen-2015 C. CastronovoM. CrippaI. BestettiD. RusconiL. LarizzaP. Finelli + Article (author) -
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 1-gen-2013 C. CastronovoE. ValtortaM. CrippaD. RusconiD. MilaniL. LarizzaP. Finelli + Article (author) -
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome 26-mar-2015 M. CrippaD. RusconiC. CastronovoI. BestettiL. LarizzaP. Finelli + Article (author) -
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome 1-feb-2014 C. CastronovoR. RossettiD. RusconiM.P. RecalcatiCACCIATORE, CHIARAP. InvernizziP. FinelliL. Persani + Article (author) -
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region 1-giu-2011 P. FinelliM. CrippaE. ValtortaC. CastronovoM. MasciadriM. RecalcatiD. RusconiL. Larizza + Article (author) -
Identification of rare CNVs involving genes acting in oocyte maturation and differentiation in a cohort of patients affected by Primary Ovarian Insufficiency 31-mag-2014 I. BestettiC. CastronovoM. CrippaR. RossettiA. PistocchiC. CasliniL. PersaniA. MarozziP. Finelli + Conference Object -
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 2-mag-2014 M. CrippaI. BestettiC. CastronovoS. TabanoL. LarizzaP. Finelli + Article (author) -
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 25-mar-2013 C. Castronovo Doctoral Thesis -
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features 1-nov-2018 Cirello VGiorgini VCastronovo CSironi ALarizza LPersani LFinelli PFugazzola L. + Article (author) -
Sindrome di Cornelia de Lange in un paziente portatore della Traslocazione t(5;15)(p13;q25.1): possibile effetto di posizione su NIPBL 1-nov-2009 M. CrippaD. RusconiC. CastronovoM. MasciadriC. GervasiniL. LarizzaP. Finelli + Conference Object -
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 14-giu-2013 S. GallettiM. CrippaI. BestettiC. CastronovoL. LarizzaP. Finelli + Article (author) -