MASCIADRI, MAURA

MASCIADRI, MAURA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Contiguous gene syndrome detected by FISH/MLPA in a CdLS patient 1-mag-2009 C. GervasiniM. MasciadriP. CastronovoA. CeredaL. Larizza + Conference Object -
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 2-ott-2013 C. GervasiniA. CeredaI. ParentiM. MasciadriJ. AzzolliniL. Larizza + 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) -
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients 1-lug-2012 M. MasciadriC. GervasiniJ. AzzolliniA. CeredaP. FinelliL. Larizza + Article (author) -
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype 4-apr-2012 P. FinelliS. SirchiaM. MasciadriM. CrippaM. RecalcatiD. RusconiL. MontiL. Larizza + Article (author) -
MeCP2 investigation in a wide cohort of italian Rett patients and array methylation assay in six cases sharing the 1164_1027del44 MeCP2 mutation 1-gen-2009 R. LupiM. MasciadriP. VeggiottiL. Larizza + Conference Object -
Minor components of olive oil affect the expression of pro-atherogenic molecules and cGMP-dependent PDE5 activity 1-giu-2004 M. Dell'AgliM. MasciadriN. MitroM. CrestaniE. De FabianiG.V. GalliL. MussoniE. TremoliE. BosisioD. Caruso Article (author) -
Minor components of olive oil modulate proatherogenic adhesion molecules involved in endothelial activation 1-gen-2006 M. DELL'AGLIR. FAGNANIN. MITROS. SCURATIM. MASCIADRIL. MUSSONIG.V. GALLIE. BOSISIOM. CRESTANIE. DE FABIANIE. TREMOLID. CARUSO Article (author) -
Molecular characterization of a large cohort of Cornelia de Lange Syndrome Italian patients 1-lug-2009 C. GervasiniM. MasciadriP. CastronovoA. CeredaL. Larizza + Conference Object -
Mosaicismo somatico nella sindrome di Cornelia de Lange: un ulteriore contributo all’eterogeneità’ clinica 1-nov-2009 P. CastronovoC. GervasiniM. MasciadriL. Larizza + Conference Object -
Olive oil phenols: antioxidant activity and beyond 1-giu-2004 M. Dell'AgliM. MasciadriN. MitroM. CrestaniE. De FabianiG.V. GalliE. BosisioD. Caruso Article (author) -
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls 1-lug-2014 I. ParentiD. RovinaM. MasciadriA. CeredaJ. AzzolliniP. FinelliC. GervasiniL. Larizza + Article (author) -
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 1-lug-2019 Giorgini V.Masciadri M.Marchi M.Gentilini D.Peron A.Savini M. N.Maitz S.Vignoli A.Larizza L. + Article (author) -
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome 1-gen-2009 P. CastronovoC. GervasiniM. MasciadriL. Larizza + Article (author) -
Prenatal/neonatal pathology findings in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL 1-mar-2007 B. GentilinM. MasciadriC. GervasiniBENTIVEGNA, ANGELAP. CastronovoL. Larizza + Article (author) -
Prevalence of growth retardation and medical complications in a large cohort of Cornelia de Lange syndrome patients and their relationships with genotype 1-lug-2009 M. MasciadriC. Gervasini + Conference Object -
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes 1-gen-2008 C. GervasiniP. CastronovoG. RoversiM. MasciadriL. Larizza + Article (author) -
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome 24-lug-2020 Crippa M.Bestetti I.Maitz S.Spano A.Masciadri M.Larizza L.Finelli P. + 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 -
Sindrome di Cornelia de Lange: analisi mutazionale dei geni NIPBL e SMC1L1 nella flow-chart diagnostico-molecolare 1-nov-2009 M. MasciadriC. GervasiniP. CastronovoA. CeredaL. Larizza + Conference Object -