CNR Institutional Research Information System

MIANO, MARIA GIUSEPPINA
 Distribuzione geografica
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Continente #
NA - Nord America 56
AS - Asia 35
EU - Europa 18
OC - Oceania 1
Totale 110
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Nazione #
US - Stati Uniti d'America 56
CN - Cina 21
IT - Italia 18
SG - Singapore 13
AU - Australia 1
KR - Corea 1
Totale 110
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Città #
Boardman 35
Singapore 8
Naples 7
Guangzhou 6
Queens 6
New York 5
Fiorano Modenese 2
Florence 2
Forest City 2
Lucca 2
Nashville 2
Saline 2
Udine 2
Arlington 1
Ashburn 1
Aversa 1
Casandrino 1
Des Moines 1
Rome 1
Seoul 1
Sydney 1
Totale 89
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Nome #
Conserved functions of mouse ARX and Caenorhabditis elegans alr-1 in controlling pathways damaged in neurodevelopmental disorders (NDDs) 20
Characterization of highly conserved molecular pathways involved in neurodevelopmental disorders (NDDs) 6
The Chromatin-Oxygen Sensor Gene KDM5C Associates with Novel Hypoxia-Related Signatures in Glioblastoma Multiforme. 5
Malattie ereditarie del segmento anteriore dell"occhio 2
Dissecting the Aristaless-related Homeobox Epilepsy path to find druggable target molecules 2
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 2
Gene Conversion at the Xq28 and novel non-recurrent deletions involving IKBKG/ NEMO and G6PD denote genomic instability causing incontinentia pigmenti. 2
Tumori 2
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations 2
Microtubule organization and splicing switches are altered in Arx animal models for neurodevelopmental disorders 2
Characterization of Retinitis Pigmentosa GTPase (RPGR) regulator gene promoter and identification of a new allele in patients with Retinitis Pigmentosa X-linked. 2
Characterization of Retinitis Pigmentosa GTPase (RPGR) regulator gene promoter and identification of a new allele in patients with Retinitis Pigmentosa X-linked 2
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy 2
Alteration of the KBKG locus and diseases: un update of IP and EDA-ID IKBKG mutations. 2
A human/bovine comparative approach to identify transcripts related to oocyte maturation: from fertility to aging 2
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region 2
analisi molecolare del gene RPGR in pazienti affetti da retinite pigmentosa legata all'X (RP3) 2
Alta frequenza di mutazioni nell'esone ORF15 del gene RPGR in famiglie sud-europee che causa retinite pigmentosa associata al cromosoma X (XLRP). 2
Clinical expression of x-linked retinitis pigmentosa in a family with a novel splice defect in the RPGR gene. 1
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report 1
Cell type-specific changes identified by single-cell transcriptomics in Arx mouse model of developmental and epileptic encephalopathy 1
Detection of a New Unbalanced Rearrangement leading to a partial Monosomy Xq and a partial 18q Trisomy associated with Diminished Ovarian Reserve (DOR)" 1
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. 1
A novel promising therapeutic paradigm in a preclinical mouse model for developmental and epileptic encephalopathy 1
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti 1
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. 1
Trio-based exome sequencing approach to identify candidate genes for phenotypic variability of Incontinentia pigmenti 1
Evidences for an evolutionary conserved druggable pathway damaged in models for ARX polyalanine expansions linked to Refractory Epilepsy and Intellectual Disability. 1
Siamo tutti connessi - XXXIV edizione di "FUTURO REMOTO: PIANETA - tra cambiamenti epocali e sfide globali. 1
La Diagnosi Genetico-Molecolare in Neurologia 1
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
A novel splicing SCN2A mutation in an adolescent with low functioning autism, acute dystonic movement disorder and late-onset generalized epilepsy 1
A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays 1
Le connessioni sinaptiche- La Notte Europea dei Ricercatori 2021 - Meet me tonight. FACCIA A FACCIA CON LA RICERCA. 1
Defective corticogenesis in Arx mouse model of developmental and epileptic encephalopathy caused by polyalanine elongations 1
Identification of a novel class of small molecules for the treatment of TREM2-related neurodegenerative dysfunctions 1
Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains 1
A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells. 1
Analysi genetica di due famiglie italiane affette da Ritardo Mentale X-linked. 1
Analysis of transcriptome landscapes in the epileptogenic cortex of the Arx(GCG)7/Y mouse 1
A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development. 1
Incontinentia Pigmenti Type 2 (IP2): isolation and characterisation of the gene through trascriptional and sequence analysis 1
A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate 1
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants. 1
DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms 1
Phytocannabinoid treatment in a mouse model of West syndrome with spontaneous seizures 1
A functional link between two XLID/Epilepsy genes ARX And KDM5C defines a crucial epigenetic disease path 1
Firthel RA. From Nonsyndromic X-linked Mental Retardation (MRX) diseases to discovery genes for cognitive circuitry in humans . 1
A Search for Genetic Markers in Disease Linkage Loci of distal Xq28 region 1
Clinical and molecular characterization of FOXP1 variants in subjects with neurodevelopmental disorders. 1
Metodi di indagine oftalmologici e genetico-molecolare 1
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. 1
Single-cell transcriptomic analysis of neocortex in Arx mouse model of developmental and epileptic encephalopathy caused by polyalanine elongations 1
From Nonsyndromic X-linked Mental Retardation (MRX) diseases to discovery genes for cognitive circuitry in humans 1
A comparative approach for identification of genes important for follicular development and early embryogenesis. 1
The histone demethylase KDM5C gene is a direct target of the ARX homeobox transcription factor. 1
Incontinentia pigmenti caused by NAHR in NEMO locus: a case report. 1
Nemo: un gene per due malattie 1
Histone methylation-demethylation defects in forms of Intellectual Disability and Refractory Epilepsy 1
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants 1
La Diagnosi Genetico-Molecolare in Neurologia 1
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms 1
Analysis of the X-chromosome cancer driver gene Lysine-specific demethylase 5C (KDM5C) in Glioblastoma Multiforme (GBM 1
A novel promising therapeutic paradigm for the treatment of drug-resistant seizures in a genetic mouse model of developmental and epileptic encephalopathy 1
Connessioni Neuronali & Sviluppo - La Notte Europea dei Ricercatori 2020- FACCIA A FACCIA CON LA RICERCA. 1
Construction of a pilot human YAC library in a recombination-defective yeast strain. 1
Identification of novel mutations in NEMO in a cohort of Incontinentia Pigmenti. 1
From Nonsyndromic X-linked Mental Retardation (MRX) diseases to discovery genes for cognitive circuitry in humans 1
A91V perforin variation in healthy subjects and FHLH patients. 1
Il fenotipo clinico dei maschi affetti da Incontinentia Pigmenti è causato da alterazioni del pathway di NF-kB come nelle femmine affette da IP? 1
Totale 113
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Categoria #
all - tutte 2.181
article - articoli 646
book - libri 33
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 82
Totale 2.942
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202492 0 0 0 0 0 0 0 0 17 3 28 44
2024/202521 17 4 0 0 0 0 0 0 0 0 0 0
Totale 113