BENTIVEGNA, ANGELA

BENTIVEGNA, ANGELA  

DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)  

Mostra records
Risultati 1 - 20 di 80 (tempo di esecuzione: 0.011 secondi).
Titolo Tipologia Data di pubblicazione Autori File
Multiple applications of FISH analysis with locus-specific probes generated by means of a novel procedure 01 - Articolo su rivista 1999 BENTIVEGNA, ANGELA +
FISH on extended chromatin and PFGE: a complementing approach for high resolution mapping of deletion breakpoints in NF1 patients 01 - Articolo su rivista 2000 BENTIVEGNA, ANGELA +
Duplicated genes and markers in 17q11.2 detected by high resolution FISH and involvement of repeated regions in NF1 microdeletion breakpoints 01 - Articolo su rivista 2001 BENTIVEGNA, ANGELA +
Identification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibers 01 - Articolo su rivista 2001 BENTIVEGNA, ANGELA +
FISH with locus-specific probes on stretched chromosomes: a useful tool for genome organization studies 01 - Articolo su rivista 2001 BENTIVEGNA, ANGELA +
Genotype-phenotype correlation in patients with NF1 microdeletion syndrome: identification of candidate genes for mental retardation 02 - Intervento a convegno 2002 BENTIVEGNA, ANGELA +
Tandem duplication of the NF1 gene detected by high-resolution FISH in 17q11.2 region 02 - Intervento a convegno 2002 BENTIVEGNA, ANGELA +
Tandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 region 01 - Articolo su rivista 2002 BENTIVEGNA, ANGELA +
High resolution FISH analysis of NF1 REP and non-REP microdeletions evidences nonhomologous end joining mediated rearrangements 02 - Intervento a convegno 2003 BENTIVEGNA, ANGELA +
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions. 01 - Articolo su rivista 2004 BENTIVEGNA, ANGELA +
Ricerca di alterazioni del Gene CREBBP (CREB Binding Protein) in pazienti con sindrome di Rubinstein-Taybi 08 - Tesi di specializzazione 2004 BENTIVEGNA, ANGELA
Mutation spectrum of CBP gene in a cohort of 20 Italian patients with Rubinstein-Taybi syndrome 01 - Articolo su rivista 2005 BENTIVEGNA, ANGELAMANZINI, STEFANO +
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval 01 - Articolo su rivista 2005 BENTIVEGNA, ANGELA +
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients 01 - Articolo su rivista 2006 BENTIVEGNA, ANGELA +
X;Y translocations and POF 02 - Intervento a convegno 2007 LISSONI, SARAREDAELLI, SERENABENTIVEGNA, ANGELADALPRA', LEDA +
Prenatal/neonatal pathology findings in two cases of Cornelia de Lange syndrome harbouring novel mutations of NIPBL 01 - Articolo su rivista 2007 BENTIVEGNA, ANGELA +
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation 01 - Articolo su rivista 2007 BENTIVEGNA, ANGELA +
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 01 - Articolo su rivista 2007 BENTIVEGNA, ANGELA +
Rubinstein-Taybi Syndrome 03 - Contributo in libro 2008 BENTIVEGNA, ANGELA +
Base molecolare della sindrome di Chromatin remodelling Rubinstein-Taybi: un sistema modello per lo studio dei deficit funzionali di acetilazione istonica 09 - Tesi di dottorato 2008 BENTIVEGNA, ANGELA