CEREDA, ANNA

CEREDA, ANNA  

Universita' degli Studi di MILANO  

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Risultati 1 - 14 di 14 (tempo di esecuzione: 0.014 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi 1-gen-2015 L. PaganiniL. FontanaR. SilipigniS. FioriA. CeredaS. SirchiaM. MiozzoS. Tabano + Article (author) -
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype 1-gen-2016 I. ParentiC. GervasiniJ. AzzolliniA. CeredaM. MarianiL. Larizza + Article (author) -
Cervical spine malformation in Cornelia de Lange syndrome: a report of three patients 1-giu-2014 M. MarianiA. CeredaC. Gervasini + Article (author) -
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) -
Cornelia de Lange syndrome : extending the physical and psychological phenotype 1-mag-2010 A. CeredaC. GervasiniP. Marchisio + Article (author) -
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia 1-feb-2012 A. CeredaL. Larizza + Article (author) -
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature 1-gen-2011 A. CeredaS. MaitzP. FinelliL. 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) -
Molecular characterization of a large cohort of Cornelia de Lange Syndrome Italian patients 1-lug-2009 C. GervasiniM. MasciadriP. CastronovoA. CeredaL. Larizza + Conference Object -
A novel non-sense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9 1-gen-2019 Indellicato, RossellaCereda, AnnaPezzani, Lidia + Article (author) -
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q 1-nov-2009 D. RusconiM. CrippaC. GervasiniA. CeredaL. LarizzaP.Finelli + Conference Object -
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) -
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 -