MASCIADRI, MAURA

MASCIADRI, MAURA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele 2022 Sironi A.Bestetti I.Masciadri M.Tumiatti F.Crippa M.Larizza L.Finelli P. + Article (author) -
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome 2020 Crippa M.Bestetti I.Maitz S.Spano A.Masciadri M.Larizza L.Finelli P. + Article (author) -
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation 2020 Cacciatori E.Lelii M.Alari V.Masciadri M.Marchisio P. + Article (author) -
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 2019 Giorgini V.Masciadri M.Marchi M.Gentilini D.Peron A.Savini M. N.Maitz S.Vignoli A.Larizza L. + Article (author) -
Sleep disorders in Cornelia de Lange syndrome 2016 C. FossatiA. VignoliC. GervasiniM. MasciadriM.P. Canevini + Article (author) -
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls 2014 I. ParentiD. RovinaM. MasciadriA. CeredaJ. AzzolliniP. FinelliC. GervasiniL. Larizza + Article (author) -
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum 2013 C. GervasiniA. CeredaI. ParentiM. MasciadriJ. AzzolliniL. Larizza + Article (author) -
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients 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 2012 P. FinelliS. SirchiaM. MasciadriM. CrippaM. RecalcatiD. RusconiL. MontiL. Larizza + Article (author) -
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) -
Contiguous gene syndrome detected by FISH/MLPA in a CdLS patient 2009 C. GervasiniM. MasciadriP. CastronovoA. CeredaL. Larizza + 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 -
Mosaicismo somatico nella sindrome di Cornelia de Lange: un ulteriore contributo all’eterogeneità’ clinica 2009 P. CastronovoC. GervasiniM. MasciadriL. Larizza + Conference Object -
Prevalence of growth retardation and medical complications in a large cohort of Cornelia de Lange syndrome patients and their relationships with genotype 2009 M. MasciadriC. Gervasini + Conference Object -
Sindrome di Cornelia de Lange: analisi mutazionale dei geni NIPBL e SMC1L1 nella flow-chart diagnostico-molecolare 2009 M. MasciadriC. GervasiniP. CastronovoA. CeredaL. Larizza + Conference Object -
Molecular characterization of a large cohort of Cornelia de Lange Syndrome Italian patients 2009 C. GervasiniM. MasciadriP. CastronovoA. CeredaL. Larizza + Conference Object -
MeCP2 investigation in a wide cohort of italian Rett patients and array methylation assay in six cases sharing the 1164_1027del44 MeCP2 mutation 2009 R. LupiM. MasciadriP. VeggiottiL. Larizza + Conference Object -
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome 2009 P. CastronovoC. GervasiniM. MasciadriL. Larizza + Article (author) -
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes 2008 C. GervasiniP. CastronovoG. RoversiM. MasciadriL. Larizza + Article (author) -
Prenatal/neonatal pathology findings in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL 2007 B. GentilinM. MasciadriC. GervasiniBENTIVEGNA, ANGELAP. CastronovoL. Larizza + Article (author) -