CRIPPA, MILENA

CRIPPA, MILENA  

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale  

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Risultati 1 - 20 di 32 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 1-ago-2019 Castronovo CSironi AZimbalatti DBestetti ICrippa MLarizza LFinelli P. + Article (author) -
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype 1-nov-2012 F.M. ElliC. GiavoliL. DioniM. CrippaP. FinelliS. BergamaschiF. MoscaA. SpadaP. Beck Peccoz + Article (author) -
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 1-mar-2013 D. RusconiM. CrippaC. GervasiniL. LarizzaP. Finelli + Article (author) -
ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing 1-gen-2013 S. MonciniP. CastronovoM. CrippaP. FinelliM. Venturin + Article (author) -
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature 1-ago-2018 M. CrippaS. GiangiobbeR. VillaI. BestettiL. FattiTAURINO, JACOPOL. LarizzaL. PersaniF. BelliniP. Finelli + Article (author) -
Centa2 is expressed during heart development and is a candidate gene for CVMs 1-set-2008 M. VenturinG. GaudenziM. StroppiM. CrippaF. CotelliP. Riva + Conference Object -
Central nervous system developmental disorder in Noonan syndrome: a genomic approach 1-mag-2014 M. CrippaI. BestettiA. SironiP. Finelli + Conference Object -
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) -
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors 1-gen-2015 I. BestettiM. CrippaP. 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) -
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome 1-set-2020 Fontana L.Cagnoli G. A.Persico N.Colapietro P.Crippa M.Sirchia s. m.Miozzo M.Tabano S. + Article (author) -
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders 1-mar-2019 Crippa, MilenaDi Fede, ElisabettaColombo, Elisa AdeleFinelli, PalmaGervasini, Cristina + 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) -
Fetal cell microchimerism : a protective role in autoimmune thyroid diseases 1-lug-2015 V. CirelloM. CrippaI. CampiC. ColomboS. FerreroP. FinelliL. Fugazzola + Article (author) -
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 1-feb-2016 G. NegriD. MilaniP. ColapietroD. RusconiM. CrippaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*) 1-lug-2018 V. AlariM. CrippaC. GervasiniP. FinelliG. PompilioL. Larizza + Article (author) -
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations 1-ott-2019 Crippa M.Finelli P.Gervasini C. + Article (author) -
High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function 1-mar-2019 Bestetti, ISironi, ACaslini, CCrippa, MFerrari, IPistocchi, APersani, LMarozzi, AFinelli, P + 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 -