MIANO, MARIA GIUSEPPINA
MIANO, MARIA GIUSEPPINA
Istituto di genetica e biofisica "Adriano Buzzati Traverso"- IGB - Sede Napoli
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 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 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 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
A91V perforin variation in healthy subjects and FHLH patients.
2006 Busiello R; Fimiani G; Miano MG; Arico M; Santoro A; Ursini MV; Pignata C.
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
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures
2021 Poeta, L; Padula, A; Lioi, Mb; van Bokhoven, H; Miano, Mg
Analysis of cortical gene expression variability in a mouse model of X-linked Infantile spsms syndrome
2019 Verrillo L; Tuccillo M; Drongitis D; Mangano E; Franco C; Terrone G; Canzoniero MT; Del Giudice E; Bordoni R; Poeta L; Miano MG.
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
1998 de Crecchio, G; Simonelli, F; Nunziata, G; Mazzeo, S; Greco, Gm; Rinaldi, E; Ventruto, V; Ciccodicola, A; Miano, Mg; Testa, F; Curci, A; D'Urso, M; Rinaldi, Mm; Cavaliere, Ml; Castelluccio, P
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
2002 Conte I; Lestingi M.; Den Hollander A.; Miano M.G.; Alfano G.; Circolo D.; Pugliese M.; Testa F.; Simonelli F.; Rinaldi E.; Baiget M.; Banfi S.; Ciccodicola A.
Characterization of Retinitis Pigmentosa GTPase (RPGR) regulator gene promoter and identification of a new allele in patients with Retinitis Pigmentosa X-linked
2000 Miano, Mg; Conte, I; Strazzullo, M; Testa, F; Lanzara, C; Zullo, A; Simonelli, F; D'Urso, M; Wright, Af; Ciccodicola, A
Complete congenital stationary night blindness maps on Xp11.4 in a sardinian family
1999 C. Rozzo; M. Fossarello; G. Galleri; M. G. Miano; A. Ciccodicola; G. Sole;M. Pirastu.
Construction of a pilot human YAC library in a recombination-defective yeast strain.
1997 Palmieri, G; Miano, Mg; Casamassimi, A; Lania, A; Kohno, K; Schlessinger, D; D'Urso, M; Featherstone, T
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy
2022 Drongitis, D; Caterino, M; Verrillo, L; Santonicola, P; Costanzo, M; Poeta, L; Attianese, B; Barra, A; Terrone, G; Lioi, Mb; Paladino, S; Di Schiavi, E; Costa, V; Ruoppolo, M; Miano, Mg
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region
2000 Ciccodicola, A ; D'Esposito, M; Esposito, T; Gianfrancesco, F; Migliaccio, C; Miano, MG; Matarazzo, MR ; Vacca, M; Franze, A; Cuccurese, M; Cocchia, M; Curci, A; Terracciano, A; Torino, A; Cocchia, S; Mercadante, G; Pannone, E; Archidiacono, N; Rocchi, M; Schlessinger, D; D'Urso, M
DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms
2020 Poeta, Loredana; Drongitis, Denise; Verrillo, Lucia; Miano, MARIA GIUSEPPINA
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
2023 Emanuela Leonardi ; Maria Cristina Aspromonte ; Denise Drongitis ; Elisa Bettella ; Lucia Verrillo ; Roberta Polli ; Meriel McEntagart ; Laura Licchetta ; Robertino Dilena ; Stefano D'Arrigo ; Claudia Ciaccio ; Silvia Esposito ; Vincenzo Leuzzi ; Annalaura Torella ; Demetrio Baldo ; Fortunato Lonardo ; Giulia Bonato ; Serena Pellegrin ; Franco Stanzial ; Renata Posmyk ; Ewa Kaczorowska ; Miryam Carecchio ; Monika Gos ; Sylwia RzocaNiewczas ; Maria Giuseppina Miano ; Alessandra Murgia
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
2022 Leonardi E; Aspromonte MC; Drongitis D; Bettella E; Verrillo L; Polli R; McEntagart M; Licchetta L; Dilena R; D'Arrigo S; Ciaccio C; Esposito S; Leuzzi V; Torella A; Baldo D; Lonardo F; Bonato G; Pellegrin S; Stanzial F; Posmyk R; Kaczorowska E; Carecchio M; Gos M; RzocaNiewczas S; Miano MG; Murgia A.
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
2022 Poeta, L; Malacarne, M; Padula, A; Drongitis, D; Verrillo, L; Lioi, Mb; Chiariello, Am; Bianco, S; Nicodemi, M; Piccione, M; Salzano, E; Coviello, D; Miano, Mg
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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 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 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 | |
| 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. | |
| 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 | |
| Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures | 1-gen-2021 | Poeta, L; Padula, A; Lioi, Mb; van Bokhoven, H; Miano, Mg | |
| Analysis of cortical gene expression variability in a mouse model of X-linked Infantile spsms syndrome | 1-gen-2019 | Verrillo L; Tuccillo M; Drongitis D; Mangano E; Franco C; Terrone G; Canzoniero MT; Del Giudice E; Bordoni R; Poeta L; Miano MG. | |
| Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. | 1-gen-1998 | de Crecchio, G; Simonelli, F; Nunziata, G; Mazzeo, S; Greco, Gm; Rinaldi, E; Ventruto, V; Ciccodicola, A; Miano, Mg; Testa, F; Curci, A; D'Urso, M; Rinaldi, Mm; Cavaliere, Ml; Castelluccio, P | |
| Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. | 1-gen-2002 | Conte I; Lestingi M.; Den Hollander A.; Miano M.G.; Alfano G.; Circolo D.; Pugliese M.; Testa F.; Simonelli F.; Rinaldi E.; Baiget M.; Banfi S.; Ciccodicola A. | |
| Characterization of Retinitis Pigmentosa GTPase (RPGR) regulator gene promoter and identification of a new allele in patients with Retinitis Pigmentosa X-linked | 1-gen-2000 | Miano, Mg; Conte, I; Strazzullo, M; Testa, F; Lanzara, C; Zullo, A; Simonelli, F; D'Urso, M; Wright, Af; Ciccodicola, A | |
| Complete congenital stationary night blindness maps on Xp11.4 in a sardinian family | 1-gen-1999 | C. Rozzo; M. Fossarello; G. Galleri; M. G. Miano; A. Ciccodicola; G. Sole;M. Pirastu. | |
| Construction of a pilot human YAC library in a recombination-defective yeast strain. | 1-gen-1997 | Palmieri, G; Miano, Mg; Casamassimi, A; Lania, A; Kohno, K; Schlessinger, D; D'Urso, M; Featherstone, T | |
| Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy | 1-gen-2022 | Drongitis, D; Caterino, M; Verrillo, L; Santonicola, P; Costanzo, M; Poeta, L; Attianese, B; Barra, A; Terrone, G; Lioi, Mb; Paladino, S; Di Schiavi, E; Costa, V; Ruoppolo, M; Miano, Mg | |
| Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region | 1-gen-2000 | Ciccodicola, A ; D'Esposito, M; Esposito, T; Gianfrancesco, F; Migliaccio, C; Miano, MG; Matarazzo, MR ; Vacca, M; Franze, A; Cuccurese, M; Cocchia, M; Curci, A; Terracciano, A; Torino, A; Cocchia, S; Mercadante, G; Pannone, E; Archidiacono, N; Rocchi, M; Schlessinger, D; D'Urso, M | |
| DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms | 1-gen-2020 | Poeta, Loredana; Drongitis, Denise; Verrillo, Lucia; Miano, MARIA GIUSEPPINA | |
| Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants | 1-gen-2023 | Emanuela Leonardi ; Maria Cristina Aspromonte ; Denise Drongitis ; Elisa Bettella ; Lucia Verrillo ; Roberta Polli ; Meriel McEntagart ; Laura Licchetta ; Robertino Dilena ; Stefano D'Arrigo ; Claudia Ciaccio ; Silvia Esposito ; Vincenzo Leuzzi ; Annalaura Torella ; Demetrio Baldo ; Fortunato Lonardo ; Giulia Bonato ; Serena Pellegrin ; Franco Stanzial ; Renata Posmyk ; Ewa Kaczorowska ; Miryam Carecchio ; Monika Gos ; Sylwia RzocaNiewczas ; Maria Giuseppina Miano ; Alessandra Murgia | |
| Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants. | 1-gen-2022 | Leonardi E; Aspromonte MC; Drongitis D; Bettella E; Verrillo L; Polli R; McEntagart M; Licchetta L; Dilena R; D'Arrigo S; Ciaccio C; Esposito S; Leuzzi V; Torella A; Baldo D; Lonardo F; Bonato G; Pellegrin S; Stanzial F; Posmyk R; Kaczorowska E; Carecchio M; Gos M; RzocaNiewczas S; Miano MG; Murgia A. | |
| Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. | 1-gen-2022 | Poeta, L; Malacarne, M; Padula, A; Drongitis, D; Verrillo, L; Lioi, Mb; Chiariello, Am; Bianco, S; Nicodemi, M; Piccione, M; Salzano, E; Coviello, D; Miano, Mg |