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Mostrati risultati da 1 a 20 di 34
Titolo Data di pubblicazione Autori Tipo File Abstract
Centa2 is expressed during heart development and is a candidate gene for CVMs 2008 M. VenturinG. GaudenziM. StroppiM. CrippaF. CotelliP. Riva + Conference Object -
Ricerca di interattori molecolari della centaurina-α2 : evidenze di associazione con la tubulina β 2008 M. StroppiM. CrippaM. VenturinE. BattaglioliP. Riva Conference Object -
Searching for centaurin-α2 interacting proteins: evidence of interaction with tubulin-β 2009 M. StroppiM. CrippaM. VenturinE. BattaglioliP. Riva Article (author) -
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q 2009 D. RusconiM. CrippaC. GervasiniA. CeredaL. LarizzaP.Finelli + Conference Object -
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. CrippaD. RusconiC. CastronovoM. MasciadriC. GervasiniL. LarizzaP. Finelli + Conference Object -
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region 2011 P. FinelliM. CrippaE. ValtortaC. CastronovoM. MasciadriM. RecalcatiD. RusconiL. Larizza + Article (author) -
Possible position effect on TRPS1 in a patient carrying t(2;8)(p16.1;q23.3) translocation with phenotype referring to trichorhinopahalangeal syndrome 2011 M. CrippaS. TabanoL. LarizzaP. Finelli + Article (author) -
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype 2012 P. FinelliS. SirchiaM. MasciadriM. CrippaM. RecalcatiD. RusconiL. MontiL. Larizza + Article (author) -
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype 2012 F.M. ElliC. GiavoliL. DioniM. CrippaP. FinelliS. BergamaschiF. MoscaA. SpadaP. Beck Peccoz + Article (author) -
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 2013 C. CastronovoE. ValtortaM. CrippaD. RusconiD. MilaniL. LarizzaP. Finelli + Article (author) -
ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing 2013 S. MonciniP. CastronovoM. CrippaP. FinelliM. Venturin + Article (author) -
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 2013 D. RusconiM. CrippaC. GervasiniL. LarizzaP. Finelli + Article (author) -
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 S. GallettiM. CrippaI. BestettiC. CastronovoL. LarizzaP. Finelli + Article (author) -
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 2014 M. CrippaA. SironiL. LarizzaP. Finelli + Conference Object -
Central nervous system developmental disorder in Noonan syndrome: a genomic approach 2014 M. CrippaI. BestettiA. SironiP. 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 2014 M. CrippaI. BestettiC. CastronovoS. TabanoL. LarizzaP. Finelli + Article (author) -
Identification of rare CNVs involving genes acting in oocyte maturation and differentiation in a cohort of patients affected by Primary Ovarian Insufficiency 2014 I. BestettiC. CastronovoM. CrippaR. RossettiA. PistocchiC. CasliniL. PersaniA. MarozziP. Finelli + Conference Object -
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors 2015 I. BestettiM. CrippaP. Finelli + 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. 2015 C. CastronovoM. CrippaI. BestettiD. RusconiL. LarizzaP. Finelli + Article (author) -
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome 2015 M. CrippaD. RusconiC. CastronovoI. BestettiL. LarizzaP. Finelli + Article (author) -
Mostrati risultati da 1 a 20 di 34
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