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Mostrati risultati da 61 a 80 di 98
Titolo Data di pubblicazione Autori Tipo File Abstract
Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies 2017 J. AzzolliniC. PesentiL. FerrariL. FontanaCALVELLO, MARIAROSARIAPORTERA, GIORGIOS. TabanoP. RivaM. Miozzo + Article (author) -
Fragile X syndrome : A review of clinical and molecular diagnoses 2017 C. CiaccioL. FontanaD. MilaniS. TabanoM. MiozzoS. Esposito Article (author) -
Mitochondrial DNA content and methylation in fetal cord blood of pregnancies with placental insufficiency 2017 C. NovielliC. MandòS. TabanoG. M. AnelliL. FontanaM. MiozzoI. Cetin + Article (author) -
Mass spectrometry-based assay for the molecular diagnosis of glioma : Concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status 2017 C. PesentiL. PaganiniL. FontanaE. VenianiS. FerreroS. BosariG. MarfiaR. SilipigniS. TabanoM. Miozzo + Article (author) -
Sequence variants identification at the KCNQ1OT1: TSS differentially Methylated region in isolated omphalocele cases 2017 M. CalvelloL. PaganiniL. PezzaniM. BaccarinL. FontanaS.M. SirchiaL. CanazzaL.L. ColomboF. MoscaS.M. TabanoM.R. Miozzo + Article (author) -
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders 2018 L. FontanaP. D'UrsiS. SirchiaM. MiozzoS. Tabano + Article (author) -
Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry 2018 E. BonaparteC. PesentiL. FontanaR. FalconeL. PaganiniM. NosottiP. MendogniS. M. SirchiaS. M. TabanoS. BosariM. R. Miozzo + Article (author) -
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome 2018 Paganini, LedaPesenti, ChiaraMilani, DonatellaFontana, LauraMotta, SilviaSirchia, Silvia MariaScuvera, GiuliettaMarchisio, PaolaCinnante, Claudia MariaTabano, Silvia MariaMiozzo, Monica Rosa + Article (author) -
MassARRAY-based simultaneous detection of hotspot somatic mutations and recurrent fusion genes in papillary thyroid carcinoma : the PTC-MA assay 2018 C. PesentiM. MuzzaC. ColomboM. C. ProverbioS. FerreroM. MiozzoL. FugazzolaS. Tabano + Article (author) -
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy 2018 Monzio Compagnoni GAureli MRonchi DFrattini EAbati ETabano SMiozzo MBresolin NCorti SDi Fonzo A + Article (author) -
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins 2018 Paganini, LedaCHETTA, MASSIMILIANORovina, DavideFontana, LauraColapietro, PatriziaBonaparte, EleonoraPezzani, LidiaMarchisio, PaolaTabano, Silvia MSirchia, Silvia MRiboni, LauraMilani, DonatellaMiozzo, Monica + Article (author) -
A miRNome analysis of drug-free manic psychotic bipolar patients versus healthy controls 2019 Tabano S.Caldiroli A.Terrasi A.Colapietro P.Grassi S.Carnevali G. S.Fontana L.Serati M.Vaira V.Altamura A. C.Miozzo M.Buoli M. Article (author) -
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E) 2019 Peverelli, LorenzoTabano, SilviaGhezzi, DanieleLamperti, Costanza + Article (author) -
Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer 2019 Azzollini, JacopoPesenti, ChiaraFontana, LauraPlebani, MaddalenaTabano, SilviaSirchia, Silvia MariaColapietro, PatriziaVERDERIO, PAOLOMiozzo, Monica + Article (author) -
Impact of Mutation Density and Heterogeneity on Papillary Thyroid Cancer Clinical Features and Remission Probability 2019 Colombo, CarlaMuzza, MarinaProverbio, Maria CarlaTosi, DelfinaPesenti, ChiaraRossi, StefaniaCirello, ValentinaDe Leo, SimoneFusco, NicolaMiozzo, MonicaBulfamante, GaetanoFerrero, StefanoTabano, SilviaFugazzola, Laura + Article (author) -
The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity 2019 Pesenti CGuarnaccia LTerrasi ASilipigni RFusco NicolaFontana LauraLocatelli MarcoTabano SMiozzo MMarfia G. + Article (author) -
DNA methylation in the diagnosis of monogenic diseases 2020 Gervasini C.Miozzo M.Sirchia S. M.Tabano S. + Article (author) -
Studio della nutrizione in gravidanza nell'ambito del progetto "HUMAN-BB": impatto dell'alimentazione sulla salute mterno/neonatale in un campione di 800 gravide fisiologiche 2020 P. A. MauriS. Tabano + Working Paper -
Analysis of BRCA1 and RAD51C promoter methylation in italian families at high-risk of breast and ovarian cancer 2020 Tabano S.Azzollini J.Fontana L.Miozzo M. + Article (author) -
Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients 2020 Rovina D.Fontana L.Tabano S.Bodega B.Miozzo M.Sirchia S. M. + Article (author) -
Mostrati risultati da 61 a 80 di 98
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