Mariateresa Paciolla
- Type
- Persona (Classe)
- Label
- Mariateresa Paciolla (literal)
- Mariateresa Paciolla (literal)
- Persona in rapporto
- Rapporto con CNR di Mariateresa Paciolla (Rapporto con CNR)
- Autore CNR di
- Fork Stalling and Template Switching (FoSTeS) mechanism generates a novel rearrangement associated with Incontinentia Pigmenti (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (Articolo in rivista) (Prodotto della ricerca)
- Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms (Articolo in rivista) (Prodotto della ricerca)
- Deletion of the Overlapping Genes G6pd and Nemo Causes Severe form of Incontinentia Pigmenti Associated to Nervous System Delayed Development and Learning Disability. (Abstract/Poster in convegno) (Prodotto della ricerca)
- Recurrent and non-recurrent genomic rearrangements in IKBKG locus, causing IP, are generated by different mechanisms and may involve the contigous G6PD gene (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Transcript level of NF-kappa-B inhibitor alpha (IkBa) is regulated during mammalian meiosis. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- The inter-neuronopathies linked to ARX mutations: The role of Aristaless during ES differentiation into GABAergic neurons. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Aristaless brain diseases: A class of pathologies associated with an altered GABAergic homeostasis ? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Incontinentia pigmenti caused by NAHR in NEMO locus: a case report. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Gene Conversion at the Xq28 and novel non-recurrent deletions involving IKBKG/ NEMO and G6PD denote genomic instability causing incontinentia pigmenti. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Deletion of the overlapping genes G6PD and NEMO causes severe form of incontinentia pigmenti associated to nervous system delayed development and learning disabilities. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Identification of novel mutations in NEMO in a cohort of Incontinentia Pigmenti. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Alteration of the KBKG locus and diseases: un update of IP and EDA-ID IKBKG mutations. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Is NFkappa-B inhibitor alpha (IkBa) involved into oocyte-to-embryo transition? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Detection of a New Unbalanced Rearrangement leading to a partial Monosomy Xq and a partial 18q Trisomy associated with Diminished Ovarian Reserve (DOR)\" (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Coautore
- MARIA GIUSEPPINA MIANO (Persona)
- ALESSANDRA PESCATORE (Unità di personale esterno)
- MICHELE D'URSO (Persona)
- GENESIA MANGANELLI (Persona)
- FRANCESCA FUSCO (Persona)
- MATILDE URSINI (Persona)
- Matilde Immacolata Conte (Unità di personale esterno)
- STEFANIA FILOSA (Persona)
- Elio Esposito (Persona)
- Serena Raimo (Unità di personale esterno)
- Loredana Poeta (Persona)
- FRANCESCA FUSCO (Persona)
- Nome
- Mariateresa (literal)
- Cognome
- Paciolla (literal)
- Afferisce a
- Ha pubblicazioni con
- MATILDE URSINI (Persona)
- MICHELE D'URSO (Persona)
- FRANCESCA FUSCO (Persona)
- MARIA GIUSEPPINA MIANO (Persona)
- ALESSANDRA PESCATORE (Unità di personale esterno)
Incoming links:
- Coautore
- MICHELE D'URSO (Persona)
- MARIA GIUSEPPINA MIANO (Persona)
- MATILDE URSINI (Persona)
- GENESIA MANGANELLI (Persona)
- FRANCESCA FUSCO (Persona)
- FRANCESCA FUSCO (Persona)
- STEFANIA FILOSA (Persona)
- ALESSANDRA PESCATORE (Unità di personale esterno)
- Matilde Immacolata Conte (Unità di personale esterno)
- Elio Esposito (Persona)
- Serena Raimo (Unità di personale esterno)
- Loredana Poeta (Persona)
- Ha pubblicazioni con
- MICHELE D'URSO (Persona)
- MARIA GIUSEPPINA MIANO (Persona)
- MATILDE URSINI (Persona)
- FRANCESCA FUSCO (Persona)
- ALESSANDRA PESCATORE (Unità di personale esterno)
- Ha afferente
- Rapporto con persona
- Rapporto con CNR di Mariateresa Paciolla (Rapporto con CNR)
- Autore CNR
- Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations (Articolo in rivista) (Prodotto della ricerca)
- Fork Stalling and Template Switching (FoSTeS) mechanism generates a novel rearrangement associated with Incontinentia Pigmenti (Abstract/Poster in convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1304)
- Deletion of the Overlapping Genes G6pd and Nemo Causes Severe form of Incontinentia Pigmenti Associated to Nervous System Delayed Development and Learning Disability. (Abstract/Poster in convegno) (Prodotto della ricerca)
- Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms (Articolo in rivista) (Prodotto della ricerca)
- A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Deletion of the overlapping genes G6PD and NEMO causes severe form of incontinentia pigmenti associated to nervous system delayed development and learning disabilities. (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- The inter-neuronopathies linked to ARX mutations: The role of Aristaless during ES differentiation into GABAergic neurons. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Gene Conversion at the Xq28 and novel non-recurrent deletions involving IKBKG/ NEMO and G6PD denote genomic instability causing incontinentia pigmenti. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Recurrent and non-recurrent genomic rearrangements in IKBKG locus, causing IP, are generated by different mechanisms and may involve the contigous G6PD gene (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Alteration of the KBKG locus and diseases: un update of IP and EDA-ID IKBKG mutations. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Identification of novel mutations in NEMO in a cohort of Incontinentia Pigmenti. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Aristaless brain diseases: A class of pathologies associated with an altered GABAergic homeostasis ? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
- Detection of a New Unbalanced Rearrangement leading to a partial Monosomy Xq and a partial 18q Trisomy associated with Diminished Ovarian Reserve (DOR)\" (Abstract/Poster in atti di convegno) (Prodotto della ricerca)
- Is NFkappa-B inhibitor alpha (IkBa) involved into oocyte-to-embryo transition? (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Incontinentia pigmenti caused by NAHR in NEMO locus: a case report. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)
- Transcript level of NF-kappa-B inhibitor alpha (IkBa) is regulated during mammalian meiosis. (Abstract/Poster in atti di convegno) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1302)