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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Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males
Fusco, Francesca, Conte, Matilde Immacolata, Diociaiuti, Andrea, Bigoni, Stefania, Branda, Maria Francesca, Ferlini, Alessandra, El Hachem, Maya, Ursini, Matilde Valeria
Published in Pediatrics (Evanston) (01.09.2017)
Published in Pediatrics (Evanston) (01.09.2017)
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Differential dysregulation of granule subsets in WASH-deficient neutrophil leukocytes resulting in inflammation
Johnson, Jennifer L., Meneses-Salas, Elsa, Ramadass, Mahalakshmi, Monfregola, Jlenia, Rahman, Farhana, Carvalho Gontijo, Raquel, Kiosses, William B., Pestonjamasp, Kersi, Allen, Dale, Zhang, Jinzhong, Osborne, Douglas G., Zhu, Yanfang Peipei, Wineinger, Nathan, Askari, Kasra, Chen, Danni, Yu, Juan, Henderson, Scott C., Hedrick, Catherine C., Ursini, Matilde Valeria, Grinstein, Sergio, Billadeau, Daniel D., Catz, Sergio D.
Published in Nature communications (21.09.2022)
Published in Nature communications (21.09.2022)
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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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Author Correction: Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells
Cuomo, Francesca, Coppola, Antonietta, Botti, Chiara, Maione, Ciro, Forte, Amalia, Scisciola, Lucia, Liguori, Giuseppina, Caiafa, Ilaria, Ursini, Matilde Valeria, Galderisi, Umberto, Cipollaro, Marilena, Altucci, Lucia, Cobellis, Gilda
Published in Scientific reports (17.04.2020)
Published in Scientific reports (17.04.2020)
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Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease
Pizzamiglio, Maria Rosa, Piccardi, Laura, Bianchini, Filippo, Canzano, Loredana, Palermo, Liana, Fusco, Francesca, D'Antuono, Giovanni, Gelmini, Chiara, Garavelli, Livia, Ursini, Matilde Valeria
Published in PloS one (29.01.2014)
Published in PloS one (29.01.2014)
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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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Novel STAT1 gain-of-function mutation and suppurative infections
Giardino, Giuliana, Somma, Domenico, Cirillo, Emilia, Ruggiero, Giuseppina, Terrazzano, Giuseppe, Rubino, Valentina, Ursini, Matilde Valeria, Vairo, Donatella, Badolato, Raffaele, Carsetti, Rita, Leonardi, Antonio, Puel, Anne, Pignata, Claudio
Published in Pediatric allergy and immunology (01.03.2016)
Published in Pediatric allergy and immunology (01.03.2016)
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Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis
Giardino, Giuliana, MD, Gallo, Vera, MD, Somma, Domenico, PhD, Farrow, Emily G., PhD, Thiffault, Isabelle, PhD, D'Assante, Roberta, PhD, Donofrio, Vittoria, MD, Paciolla, Mariateresa, PhD, Ursini, Matilde Valeria, PhD, Leonardi, Antonio, MD, PhD, Saunders, Carol J., PhD, Pignata, Claudio, MD, PhD
Published in Journal of allergy and clinical immunology (01.05.2016)
Published in Journal of allergy and clinical immunology (01.05.2016)
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Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti
Sebban-Benin, Hélène, Pescatore, Alessandra, Fusco, Francesca, Pascuale, Valérie, Gautheron, Jérémie, Yamaoka, Shoji, Moncla, Anne, Ursini, Matilde Valeria, Courtois, Gilles
Published in Human molecular genetics (01.12.2007)
Published in Human molecular genetics (01.12.2007)
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Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology
Gautheron, Jérémie, Pescatore, Alessandra, Fusco, Francesca, Esposito, Elio, Yamaoka, Shoji, Agou, Fabrice, Ursini, Matilde Valeria, Courtois, Gilles
Published in Human molecular genetics (15.08.2010)
Published in Human molecular genetics (15.08.2010)
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Journal Article
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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Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction
Fimiani, Giorgia, Laperuta, Carmela, Falco, Geppino, Ventruto, Valerio, D’Urso, Michele, Ursini, Matilde Valeria, Miano, Maria Giuseppina
Published in Human reproduction (Oxford) (01.02.2006)
Published in Human reproduction (Oxford) (01.02.2006)
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The R156H variation in IL-12Rβ1 is not a mutation
van de Vosse, Esther, van Dissel, Jaap T, Palamaro, Loredana, Giardino, Giuliana, Santamaria, Francesca, Romano, Rosa, Fusco, Anna, Montella, Silvia, Salerno, Mariacarolina, Ursini, Matilde Valeria, Pignata, Claudio
Published in Italian journal of pediatrics (14.02.2013)
Published in Italian journal of pediatrics (14.02.2013)
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The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter
Ambrosio, Raffaele, Fimiani, Giorgia, Monfregola, Jlenia, Sanzari, Emma, De Felice, Nicola, Salerno, Maria Carolina, Pignata, Claudio, D'Urso, Michele, Ursini, Matilde Valeria
Published in Gene (20.02.2002)
Published in Gene (20.02.2002)
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