MIANO, MARIA GIUSEPPINA
MIANO, MARIA GIUSEPPINA
Istituto di genetica e biofisica "Adriano Buzzati Traverso"- IGB - Sede Napoli
A comparative approach for identification of genes important for follicular development and early embryogenesis.
2006 Miano MG; Larocca F; Boi R; Crispi S; Lioi MB; Ursini MV.
A functional link between two XLID/Epilepsy genes ARX And KDM5C defines a crucial epigenetic disease path
2013 Poeta, L; Padula, A; Fusco, F; Shoubridge, C; Manganelli, G; Filosa, S; Gjernes, E; Collombat, P; Paciolla, M; Lioi, Mb; Gecz, J; Ursini, Mv; Miano, Mg
A human/bovine comparative approach to identify transcripts related to oocyte maturation: from fertility to aging
2007 Laperuta, C; Carbone, C; D'Urso, M; Lioi, B; Ursini, Mv; Miano, Mg
A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays
2018 Frost, S; Padula, A; Pedersen, I S; Le, V Q; Ernst, A; Nielsen, I K; Miano, M G; Petersen, M B
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
2007 Abidi F.E.; Miano M.G.; Murray J.C.; Schwartz C.E.
A novel promising therapeutic paradigm for the treatment of drug-resistant seizures in a genetic mouse model of developmental and epileptic encephalopathy
2022 Verrillo, L; Drongitis, D; Barra, A; Terrone, G; Miano, Mg
A novel promising therapeutic paradigm in a preclinical mouse model for developmental and epileptic encephalopathy
2023 Di Palma, R; Verrillo, L; Mangano, E; Drongitis, D; Schiano Visconte, M; Barra, A; Terrone, G; Miano, Mg
A novel splicing SCN2A mutation in an adolescent with low functioning autism, acute dystonic movement disorder and late-onset generalized epilepsy
2022 Alagia, Marianna; Fecarotta, Simona; Romano, Alfonso; Parrini, Elena; Auricchio, Gianfranca; Miano, MARIA GIUSEPPINA; Terrone, Gaetano
A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development.
2011 Fusco, F; Pescatore, A; Conte, Mi; Paciolla, M; Lioi, Mb; Miano, Mg; Ursini, Mv
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
2013 Poeta, L; Fusco, F; Drongitis, D; Shoubridge, C; Manganelli, G; Filosa, S; Paciolla, M; Courtney, M; Collombat, P; Lioi, Mb; Gecz, J; Ursini, Mv; Miano, Mg
A regulatory path associated with X-Linked Intellectual Disability and Epilepsy links the histone demethylase KDM5C to the Polyalanine expansions in the transcription factor ARX
2013 Poeta L; Fusco F; Shoubridge C; Manganelli G; Filosa S; Padula A; Courtney M; Collombat P; Lioi MB; Gecz J; Ursini MV;Miano MG
A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells.
2020 Verrillo, Lucia; Verrillo, Lucia; Mangano, Eleonora; Mangano, Eleonora; Drongitis, ; Denise, ; Merelli, Ivan; Merelli, Ivan; Pischedda, ; Francesca, ; Piccoli, ; Giovanni, ; Consolandi, Clarissa; Consolandi, Clarissa; Bordoni, Roberta; Bordoni, Roberta; Miano, MARIA GIUSEPPINA; Giuseppina, Maria
A Search for Genetic Markers in Disease Linkage Loci of distal Xq28 region
2003 Miano MG; Fimiani G; Bardaro T; Monfregola J; Mercadante G; Circolo D; De Luca P; D'Urso M; Ursini MV.
A91V perforin variation in healthy subjects and FHLH patients.
2006 Busiello R; Fimiani G; Miano MG; Arico M; Santoro A; Ursini MV; Pignata C.
Alta frequenza di mutazioni nell'esone ORF15 del gene RPGR in famiglie sud-europee che causa retinite pigmentosa associata al cromosoma X (XLRP).
2001 Zullo A; Conte I; D'Urso M; Circolo D; Torino A; Cocchia S; Ciccodicola A; Miano MG.
Alteration of the KBKG locus and diseases: un update of IP and EDA-ID IKBKG mutations.
2008 Fusco, F; Pescatore, A; Paciolla, M; Lioi, Mb; Mg, Miano; Mv, Ursini
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
2008 Fusco, Francesca; Pescatore, Alessandra; Bal, Elodie; Ghoul, Aida; Paciolla, Mariateresa; Brigida Lioi, Maria; D'Urso, Michele; Hadj Rabia, Smail; Bodemer, Christine; Paul, Jean; Bonnefont, ; Munnich, Arnold; Miano, MARIA GIUSEPPINA; Smahi, Asma; Valeria Ursini, Matilde
Analisi di linkage genetico in una famiglia italiana affetta da ritardo mentale X-linked non specifico.
2000 Miano, Mg; Lanzara, C; Torino, A; Annunziata, I; Circolo, D; Ventruto, V; Casari, G; D'Urso, M; Ciccodicola, A
analisi molecolare del gene RPGR in pazienti affetti da retinite pigmentosa legata all'X (RP3)
1997 Miano MG; Testa F; Migliaccio C; Terracciano A; Simonelli F; Baiget M; Antinolo G; Danesino C; Novelli G; Del Porto G et al.
Analysi genetica di due famiglie italiane affette da Ritardo Mentale X-linked.
2002 Miano, Mg; Annunziata, I; Di Leva, F; Fimiani, G; Russo, S; Cogliati, F; Casari, G; Ventruto, V; Ursini, Mv; D'Urso, M
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A comparative approach for identification of genes important for follicular development and early embryogenesis. | 1-gen-2006 | Miano MG; Larocca F; Boi R; Crispi S; Lioi MB; Ursini MV. | |
| A functional link between two XLID/Epilepsy genes ARX And KDM5C defines a crucial epigenetic disease path | 1-gen-2013 | Poeta, L; Padula, A; Fusco, F; Shoubridge, C; Manganelli, G; Filosa, S; Gjernes, E; Collombat, P; Paciolla, M; Lioi, Mb; Gecz, J; Ursini, Mv; Miano, Mg | |
| A human/bovine comparative approach to identify transcripts related to oocyte maturation: from fertility to aging | 1-gen-2007 | Laperuta, C; Carbone, C; D'Urso, M; Lioi, B; Ursini, Mv; Miano, Mg | |
| A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays | 1-gen-2018 | Frost, S; Padula, A; Pedersen, I S; Le, V Q; Ernst, A; Nielsen, I K; Miano, M G; Petersen, M B | |
| A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate | 1-gen-2007 | Abidi F.E.; Miano M.G.; Murray J.C.; Schwartz C.E. | |
| A novel promising therapeutic paradigm for the treatment of drug-resistant seizures in a genetic mouse model of developmental and epileptic encephalopathy | 1-gen-2022 | Verrillo, L; Drongitis, D; Barra, A; Terrone, G; Miano, Mg | |
| A novel promising therapeutic paradigm in a preclinical mouse model for developmental and epileptic encephalopathy | 1-gen-2023 | Di Palma, R; Verrillo, L; Mangano, E; Drongitis, D; Schiano Visconte, M; Barra, A; Terrone, G; Miano, Mg | |
| A novel splicing SCN2A mutation in an adolescent with low functioning autism, acute dystonic movement disorder and late-onset generalized epilepsy | 1-gen-2022 | Alagia, Marianna; Fecarotta, Simona; Romano, Alfonso; Parrini, Elena; Auricchio, Gianfranca; Miano, MARIA GIUSEPPINA; Terrone, Gaetano | |
| A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development. | 1-gen-2011 | Fusco, F; Pescatore, A; Conte, Mi; Paciolla, M; Lioi, Mb; Miano, Mg; Ursini, Mv | |
| A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. | 1-gen-2013 | Poeta, L; Fusco, F; Drongitis, D; Shoubridge, C; Manganelli, G; Filosa, S; Paciolla, M; Courtney, M; Collombat, P; Lioi, Mb; Gecz, J; Ursini, Mv; Miano, Mg | |
| A regulatory path associated with X-Linked Intellectual Disability and Epilepsy links the histone demethylase KDM5C to the Polyalanine expansions in the transcription factor ARX | 1-gen-2013 | Poeta L; Fusco F; Shoubridge C; Manganelli G; Filosa S; Padula A; Courtney M; Collombat P; Lioi MB; Gecz J; Ursini MV;Miano MG | |
| A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells. | 1-gen-2020 | Verrillo, Lucia; Verrillo, Lucia; Mangano, Eleonora; Mangano, Eleonora; Drongitis, ; Denise, ; Merelli, Ivan; Merelli, Ivan; Pischedda, ; Francesca, ; Piccoli, ; Giovanni, ; Consolandi, Clarissa; Consolandi, Clarissa; Bordoni, Roberta; Bordoni, Roberta; Miano, MARIA GIUSEPPINA; Giuseppina, Maria | |
| A Search for Genetic Markers in Disease Linkage Loci of distal Xq28 region | 1-gen-2003 | Miano MG; Fimiani G; Bardaro T; Monfregola J; Mercadante G; Circolo D; De Luca P; D'Urso M; Ursini MV. | |
| A91V perforin variation in healthy subjects and FHLH patients. | 1-gen-2006 | Busiello R; Fimiani G; Miano MG; Arico M; Santoro A; Ursini MV; Pignata C. | |
| Alta frequenza di mutazioni nell'esone ORF15 del gene RPGR in famiglie sud-europee che causa retinite pigmentosa associata al cromosoma X (XLRP). | 1-gen-2001 | Zullo A; Conte I; D'Urso M; Circolo D; Torino A; Cocchia S; Ciccodicola A; Miano MG. | |
| Alteration of the KBKG locus and diseases: un update of IP and EDA-ID IKBKG mutations. | 1-gen-2008 | Fusco, F; Pescatore, A; Paciolla, M; Lioi, Mb; Mg, Miano; Mv, Ursini | |
| Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations | 1-gen-2008 | Fusco, Francesca; Pescatore, Alessandra; Bal, Elodie; Ghoul, Aida; Paciolla, Mariateresa; Brigida Lioi, Maria; D'Urso, Michele; Hadj Rabia, Smail; Bodemer, Christine; Paul, Jean; Bonnefont, ; Munnich, Arnold; Miano, MARIA GIUSEPPINA; Smahi, Asma; Valeria Ursini, Matilde | |
| Analisi di linkage genetico in una famiglia italiana affetta da ritardo mentale X-linked non specifico. | 1-gen-2000 | Miano, Mg; Lanzara, C; Torino, A; Annunziata, I; Circolo, D; Ventruto, V; Casari, G; D'Urso, M; Ciccodicola, A | |
| analisi molecolare del gene RPGR in pazienti affetti da retinite pigmentosa legata all'X (RP3) | 1-gen-1997 | Miano MG; Testa F; Migliaccio C; Terracciano A; Simonelli F; Baiget M; Antinolo G; Danesino C; Novelli G; Del Porto G et al. | |
| Analysi genetica di due famiglie italiane affette da Ritardo Mentale X-linked. | 1-gen-2002 | Miano, Mg; Annunziata, I; Di Leva, F; Fimiani, G; Russo, S; Cogliati, F; Casari, G; Ventruto, V; Ursini, Mv; D'Urso, M |