Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male
Pescatore, Alessandra, Spinosa, Ezia, Casale, Carmela, Lioi, Maria Brigida, Ursini, Matilde Valeria, Fusco, Francesca
Published in International journal of molecular sciences (21.01.2022)
Published in International journal of molecular sciences (21.01.2022)
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Radiofrequency Electromagnetic Field Exposure and Apoptosis: A Scoping Review of In Vitro Studies on Mammalian Cells
Romeo, Stefania, Zeni, Olga, Scarfì, Maria Rosaria, Poeta, Loredana, Lioi, Maria Brigida, Sannino, Anna
Published in International journal of molecular sciences (19.02.2022)
Published in International journal of molecular sciences (19.02.2022)
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Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability
Poeta, Loredana, Malacarne, Michela, Padula, Agnese, Drongitis, Denise, Verrillo, Lucia, Lioi, Maria Brigida, Chiariello, Andrea M, Bianco, Simona, Nicodemi, Mario, Piccione, Maria, Salzano, Emanuela, Coviello, Domenico, Miano, Maria Giuseppina
Published in International journal of molecular sciences (13.03.2022)
Published in International journal of molecular sciences (13.03.2022)
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Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
FUSCO, Francesca, PACIOLLA, Mariateresa, NAPOLITANO, Federico, PESCATORE, Alessandra, D'ADDARIO, Irene, BAL, Elodie, BRIGIDA LIOI, Maria, SMAHI, Asma, GIUSEPPINA MIANO, Maria, VALERIA URSINI, Matilde
Published in Human molecular genetics (15.03.2012)
Published in Human molecular genetics (15.03.2012)
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A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX
Poeta, Loredana, Fusco, Francesca, Drongitis, Denise, Shoubridge, Cheryl, Manganelli, Genesia, Filosa, Stefania, Paciolla, Mariateresa, Courtney, Monica, Collombat, Patrick, Lioi, Maria Brigida, Gecz, Jozef, Ursini, Matilde Valeria, Miano, Maria Giuseppina
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
Fusco, Francesca, Pescatore, Alessandra, Bal, Elodie, Ghoul, Aida, Paciolla, Mariateresa, Lioi, Maria Brigida, D'Urso, Michele, Rabia, Smail Hadj, Bodemer, Christine, Bonnefont, Jean Paul, Munnich, Arnold, Miano, Maria Giuseppina, Smahi, Asma, Ursini, Matilde Valeria
Published in Human mutation (01.05.2008)
Published in Human mutation (01.05.2008)
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Verminoside- and verbascoside-induced genotoxicity on human lymphocytes: Involvement of PARP-1 and p53 proteins
Santoro, Antonietta, Bianco, Giuseppe, Picerno, Patrizia, Aquino, Rita Patrizia, Autore, Giuseppina, Marzocco, Stefania, Gazzerro, Patrizia, Lioi, Maria Brigida, Bifulco, Maurizio
Published in Toxicology letters (05.05.2008)
Published in Toxicology letters (05.05.2008)
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Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti
Francesca, Fusco, Mariateresa, Paciolla, Alessandra, Pescatore, Brigida, Lioi Maria, Carmen, Ayuso, Francesca, Faravelli, Mattia, Gentile, Marcella, Zollino, Michele, D'Urso, Giuseppina, Miano Maria, Valeria, Ursini Matilde
Published in Human mutation (01.09.2009)
Published in Human mutation (01.09.2009)
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The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide
Fusco, Francesca, Valente, Valeria, Fergola, Dario, Pescatore, Alessandra, Lioi, Maria Brigida, Ursini, Matilde Valeria
Published in European journal of human genetics : EJHG (01.10.2019)
Published in European journal of human genetics : EJHG (01.10.2019)
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Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy
Drongitis, Denise, Caterino, Marianna, Verrillo, Lucia, Santonicola, Pamela, Costanzo, Michele, Poeta, Loredana, Attianese, Benedetta, Barra, Adriano, Terrone, Gaetano, Lioi, Maria Brigida, Paladino, Simona, Di Schiavi, Elia, Costa, Valerio, Ruoppolo, Margherita, Miano, Maria Giuseppina
Published in Human molecular genetics (04.06.2022)
Published in Human molecular genetics (04.06.2022)
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EDA-ID and IP, Two Faces of the Same Coin: How the Same IKBKG/NEMO Mutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation
Fusco, Francesca, Pescatore, Alessandra, Conte, Matilde Immacolata, Mirabelli, Peppino, Paciolla, Mariateresa, Esposito, Elio, Lioi, Maria Brigida, Ursini, Matilde Valeria
Published in International reviews of immunology (01.01.2015)
Published in International reviews of immunology (01.01.2015)
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Treatment with 3-Aminobenzamide Negates the Radiofrequency-Induced Adaptive Response in Two Cell Models
Sannino, Anna, Zeni, Olga, Romeo, Stefania, Lioi, Maria Brigida, Scarfì, Maria Rosaria
Published in International journal of environmental research and public health (02.08.2019)
Published in International journal of environmental research and public health (02.08.2019)
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Incontinentia pigmenti: report on data from 2000 to 2013
Fusco, Francesca, Paciolla, Mariateresa, Conte, Matilde Immacolata, Pescatore, Alessandra, Esposito, Elio, Mirabelli, Peppino, Lioi, Maria Brigida, Ursini, Matilde Valeria
Published in Orphanet journal of rare diseases (24.06.2014)
Published in Orphanet journal of rare diseases (24.06.2014)
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Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders
Poeta, Loredana, Padula, Agnese, Attianese, Benedetta, Valentino, Mariaelena, Verrillo, Lucia, Filosa, Stefania, Shoubridge, Cheryl, Barra, Adriano, Schwartz, Charles E, Christensen, Jesper, van Bokhoven, Hans, Helin, Kristian, Lioi, Maria Brigida, Collombat, Patrick, Gecz, Jozef, Altucci, Lucia, Di Schiavi, Elia, Miano, Maria Giuseppina
Published in Human molecular genetics (15.12.2019)
Published in Human molecular genetics (15.12.2019)
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Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease
Conte, Matilde Immacolata, Pescatore, Alessandra, Paciolla, Mariateresa, Esposito, Elio, Miano, Maria Giuseppina, Lioi, Maria Brigida, McAleer, Maeve A., Giardino, Giuliana, Pignata, Claudio, Irvine, Alan D., Scheuerle, Angela E., Royer, Ghislaine, Hadj-Rabia, Smail, Bodemer, Christine, Bonnefont, Jean-Paul, Munnich, Arnold, Smahi, Asma, Steffann, Julie, Fusco, Francesca, Ursini, Matilde Valeria
Published in Human mutation (01.02.2014)
Published in Human mutation (01.02.2014)
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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
Fusco, Francesca, Paciolla, Mariateresa, Chen, Emily, Li, Xu, Genesio, Rita, Conti, Anna, Jones, Julie, Poeta, Loredana, Lioi, Maria Brigida, Ursini, Matilde Valeria, Miano, Maria Giuseppina
Published in Human reproduction (Oxford) (01.11.2011)
Published in Human reproduction (Oxford) (01.11.2011)
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Rare Mendelian Primary Immunodeficiency diseases associated to impaired NF-κB signaling
Paciolla, Mariateresa, Pescatore, Alessandra, Conte, Matilde Immacolata, Esposito, Elio, Incoronato, Mariarosaria, Lioi, Maria Brigida, Fusco, Francesca, Ursini, Matilde Valeria
Published in Genes and immunity (12.03.2015)
Published in Genes and immunity (12.03.2015)
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Spontaneous rate of sister chromatid exchanges (SCEs) and BrdU dose-response relationships in mitotic chromosomes of goat (Capra hircus L.)
di Berardino, Dino, Jovino, Valeria, Lioi, Maria Brigida, Scarfi, Maria Rosaria, Burguete, Isabel
Published in Hereditas (01.01.1996)
Published in Hereditas (01.01.1996)
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