Search Results - "Larizza, Lidia"

Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes by Larizza, Lidia, Colombo, Elisa Adele

“…This review starts off with the first germline homozygous variants of the Nucleoporin 98 gene ( ) in siblings whose clinical presentation recalls…”
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Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment by Larizza, Lidia, Cubellis, Maria Vittoria

“…Rare Diseases (RD) do not have an exact definition since local authorities define the criteria in different ways, from fewer than 5 people in 10,000, according…”
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Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol by Mussa, Alessandro, MD, PhD, Molinatto, Cristina, MD, Baldassarre, Giuseppina, MD, Riberi, Evelise, PhD, Russo, Silvia, PhD, Larizza, Lidia, MD, PhD, Riccio, Andrea, MD, PhD, Ferrero, Giovanni Battista, MD, PhD

“…Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM),…”
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Rothmund-Thomson syndrome by Larizza, Lidia, Roversi, Gaia, Volpi, Ludovica

“…Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp…”
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Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein–Taybi Intellectual Disability Syndromes by Larizza, Lidia, Alari, Valentina, Calzari, Luciano, Russo, Silvia

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Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease by Larizza, Lidia, Watson, Christopher M, Gillentine, Madelyn A, Finelli, Palma

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Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons by Larizza, Lidia, Calzari, Luciano, Alari, Valentina, Russo, Silvia

“…Taking advantage of the fast-growing knowledge of RNA-binding proteins (RBPs) we review the signature of downregulated genes for RBPs in the transcriptome of…”
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Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants by Perego, Sara, Alari, Valentina, Pietra, Gianluca, Lamperti, Andrea, Vimercati, Alessandro, Camporeale, Nicole, Garzo, Maria, Cogliati, Francesca, Milani, Donatella, Vignoli, Aglaia, Peron, Angela, Larizza, Lidia, Pizzorusso, Tommaso, Russo, Silvia

“…Rett syndrome caused by variants is characterized by a heterogenous clinical spectrum accounted for in 60% of cases by hot-spot variants. Focusing on the most…”
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Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling by Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D'Ursi, Pasqualina, Larizza, Lidia

“…Two adult siblings born to first-cousin parents presented a clinical phenotype reminiscent of Rothmund-Thomson syndrome (RTS), implying fragile hair, absent…”
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes by Di Fede, Elisabetta, Massa, Valentina, Augello, Bartolomeo, Squeo, Gabriella, Scarano, Emanuela, Perri, Anna Maria, Fischetto, Rita, Causio, Francesco Andrea, Zampino, Giuseppe, Piccione, Maria, Curridori, Elena, Mazza, Tommaso, Castellana, Stefano, Larizza, Lidia, Ghelma, Filippo, Colombo, Elisa Adele, Gandini, Maria Chiara, Castori, Marco, Merla, Giuseppe, Milani, Donatella, Gervasini, Cristina

“…Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as "writer"…”
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Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation by Calzari, Luciano, Barcella, Matteo, Alari, Valentina, Braga, Daniele, Muñoz-Viana, Rafael, Barlassina, Cristina, Finelli, Palma, Gervasini, Cristina, Barco, Angel, Russo, Silvia, Larizza, Lidia

“…Rubinstein-Taybi syndrome (RSTS) is a rare multisystem developmental disorder with moderate to severe intellectual disability caused by heterozygous mutations…”
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Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes by Cogliati, Francesca, Giorgini, Valentina, Masciadri, Maura, Bonati, Maria Teresa, Marchi, Margherita, Cracco, Irene, Gentilini, Davide, Peron, Angela, Savini, Miriam Nella, Spaccini, Luigina, Scelsa, Barbara, Maitz, Silvia, Veneselli, Edvige, Prato, Giulia, Pintaudi, Maria, Moroni, Isabella, Vignoli, Aglaia, Larizza, Lidia, Russo, Silvia

“…Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies,…”
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes by Parenti, Ilaria, Teresa-Rodrigo, María E., Pozojevic, Jelena, Ruiz Gil, Sara, Bader, Ingrid, Braunholz, Diana, Bramswig, Nuria C., Gervasini, Cristina, Larizza, Lidia, Pfeiffer, Lutz, Ozkinay, Ferda, Ramos, Feliciano, Reiz, Benedikt, Rittinger, Olaf, Strom, Tim M., Watrin, Erwan, Wendt, Kerstin, Wieczorek, Dagmar, Wollnik, Bernd, Baquero-Montoya, Carolina, Pié, Juan, Deardorff, Matthew A., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J.

“…The coordinated tissue-specific regulation of gene expression is essential for the proper development of all organisms. Mutations in multiple transcriptional…”
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Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients by Alari, Valentina, Scalmani, Paolo, Ajmone, Paola Francesca, Perego, Sara, Avignone, Sabrina, Catusi, Ilaria, Lonati, Paola Adele, Borghi, Maria Orietta, Finelli, Palma, Terragni, Benedetta, Mantegazza, Massimo, Russo, Silvia, Larizza, Lidia

“…Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder caused by mutations in CREBBP or EP300 genes encoding CBP/p300 lysine…”
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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms by Kloosterman, Wigard P., Tavakoli-Yaraki, Masoumeh, van Roosmalen, Markus J., van Binsbergen, Ellen, Renkens, Ivo, Duran, Karen, Ballarati, Lucia, Vergult, Sarah, Giardino, Daniela, Hansson, Kerstin, Ruivenkamp, Claudia A.L., Jager, Myrthe, van Haeringen, Arie, Ippel, Elly F., Haaf, Thomas, Passarge, Eberhard, Hochstenbach, Ron, Menten, Björn, Larizza, Lidia, Guryev, Victor, Poot, Martin, Cuppen, Edwin

“…Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with…”
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Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome by Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Bellini, Matteo, Tumiatti, Francesca, Ballabio, Sara, Ceriotti, Ferruccio, Memo, Luigi, Iascone, Maria, Larizza, Lidia, Finelli, Palma

“…Thanks to a long-read sequencing (LRS) approach, in this study, we have reported a molecularly solved case of a proband with a clinical diagnosis of Cornelia…”
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Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes by Peron, Angela, Catusi, Ilaria, Recalcati, Maria Paola, Calzari, Luciano, Larizza, Lidia, Vignoli, Aglaia, Canevini, Maria Paola

“…Ring chromosome 20 [r(20)] syndrome is a rare condition characterized by a non-supernumerary ring chromosome 20 replacing a normal chromosome 20. It is…”
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Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome by Catusi, Ilaria, Bonati, Maria Teresa, Mainini, Ester, Russo, Silvia, Orlandini, Eleonora, Larizza, Lidia, Recalcati, Maria Paola

“…Maternal uniparental disomy of chromosome 7 is present in 5-10% of patients with Silver-Russell syndrome (SRS), and duplication of 7p including (Growth Factor…”
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Prevalence of beckwith-wiedemann syndrome in North West of Italy by Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Chiesa, Nicoletta, Molinatto, Cristina, Selicorni, Angelo, Richiardi, Lorenzo, Larizza, Lidia, Silengo, Margherita Cirillo, Riccio, Andrea, Ferrero, Giovanni Battista

“…ABSTRACT Although Beckwith–Wiedemann syndrome (BWS, OMIM #130650) is the most common genetic overgrowth disorder, data on its epidemiology are scanty and the…”
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Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition by Roversi, Gaia, Colombo, Elisa Adele, Magnani, Ivana, Gervasini, Cristina, Maggiore, Giuseppe, Paradisi, Mauro, Larizza, Lidia

“…Two Italian patients with the initial clinical diagnosis of Rothmund-Thomson syndrome were negative for RECQL4 mutations but showed in peripheral blood cells a…”
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