CASTRONOVO, PAOLA

CASTRONOVO, PAOLA  

DIPARTIMENTO DI BIOLOGIA E GENETICA PER LE SCIENZE MEDICHE (attivo dal 01/11/1983 al 26/04/2012)  

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Risultati 1 - 19 di 19 (tempo di esecuzione: 0.018 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
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) -
CHROMOSOMAL IMBALANCES IN RUBINSTEIN-TAYBI PATIENTS NEGATIVE TO CREBBP MUTATIONAL TEST 1-mag-2008 C. GervasiniF. MottadelliP. CastronovoL. Larizza + Article (author) -
Chromosome 13q14.2-q14.3 and 15q26.2-qter deletions detected by array-CGH in two patients with Cornelia de Lange syndrome 1-gen-2007 G. RoversiC. GervasiniP. CastronovoL. Larizza + Article (author) -
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation 1-ago-2007 C. GervasiniP. CastronovoA. BentivegnaL. Larizza + Article (author) -
Contiguous gene syndrome detected by FISH/MLPA in a CdLS patient 1-mag-2009 C. GervasiniM. MasciadriP. CastronovoA. CeredaL. Larizza + Conference Object -
Extensive mutational analysis of CDK5 and CDK5R1 in patients with non-syndromic mental retardation reveals novel variants in CDK5R1 3’-UTR 1-gen-2012 S. MonciniP. CastronovoP. RivaM. Venturin + Article (author) -
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability 1-apr-2016 MONCINI, SILVIACASTRONOVO, PAOLALUNGHI, MARTARIVA, PAOLA VANDAM. Venturin + Article (author) -
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis 1-lug-2010 C.C.G. GervasiniF. MottadelliP. CastronovoL. Larizza + Article (author) -
High frequency of mosaic CREBBP deletions in RSTS patients and mapping of somatic and germline breakpoints 1-gen-2007 C. GervasiniP. CastronovoF. MottadelliL. Larizza + Article (author) -
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 1-nov-2007 C. GervasiniP. CastronovoA. BentivegnaF. MottadelliL. Larizza + Article (author) -
Huntingtin gene CAG repeat size affects autism risk: Family-based and case–control association study 1-gen-2020 Iennaco R.Baccarin M.Castronovo P.Cucinotta F.Zuccato C.Cattaneo E. + 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 -
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) -
Rubinstein-Taybi syndrome : spectrum of CREBBP mutations in Italian patients. 1-ott-2006 C. GervasiniP. CastronovoMOTTADELLI, FEDERICAS. ManziniP. ColapietroL. 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 1-gen-2008 C. GervasiniP. CastronovoG. RoversiM. MasciadriL. 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 -
Sindrome di Rubinstein Taybi: CREBBP e oltre 1-nov-2009 F. MottadelliC. GervasiniP. CastronovoS. SirchiaL. Larizza + Conference Object -