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Rothmund-Thomson syndrome
Author / Creator:Larizza, Lidia ; Roversi, Gaia ; Volpi, Ludovica
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2010-01, Vol.5 (1), p.2-2, Article 2
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Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein–Taybi Intellectual Disability Syndromes
Author / Creator:Larizza, Lidia ; Alari, Valentina ; Calzari, Luciano ; Russo, Silvia
Publisher:Frontiers Media S.A
Journal title:Frontiers in neuroscience, 2021-10, Vol.15, p.745684-745684
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.88-98
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Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
Author / Creator:Calzari, Luciano ; Barcella, Matteo ; Alari, Valentina ; Braga, Daniele ; Muñoz-Viana, Rafael ; Barlassina, Cristina ; Finelli, Palma ; Gervasini, Cristina ; Barco, Angel ; Russo, Silvia ; Larizza, Lidia
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2020-09, Vol.57 (9), p.3685-3701
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
Author / Creator: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.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2017-03, Vol.136 (3), p.307-320
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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling
Author / Creator:Eggermann, Thomas ; Brioude, Frédéric ; Russo, Silvia ; Lombardi, Maria P ; Bliek, Jet ; Maher, Eamonn R ; Larizza, Lidia ; Prawitt, Dirk ; Netchine, Irène ; Gonzales, Marie ; Grønskov, Karen ; Tümer, Zeynep ; Monk, David ; Mannens, Marcel ; Chrzanowska, Krystyna ; Walasek, Malgorzata K ; Begemann, Matthias ; Soellner, Lukas ; Eggermann, Katja ; Tenorio, Jair ; Nevado, Julián ; Moore, Gudrun E ; Mackay, Deborah Jg ; Temple, Karen ; Gillessen-Kaesbach, Gabriele ; Ogata, Tsutomu ; Weksberg, Rosanna ; Algar, Elizabeth ; Lapunzina, Pablo
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.784-793
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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
Author / Creator:Bliek, Jet ; Verde, Gaetano ; Callaway, Jonathan ; Maas, Saskia M ; De Crescenzo, Agostina ; Sparago, Angela ; Cerrato, Flavia ; Russo, Silvia ; Ferraiuolo, Serena ; Rinaldi, Maria Michela ; Fischetto, Rita ; Lalatta, Faustina ; Giordano, Lucio ; Ferrari, Paola ; Cubellis, Maria Vittoria ; Larizza, Lidia ; Temple, I Karen ; Mannens, Marcel M A M ; Mackay, Deborah J G ; Riccio, Andrea
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Author / Creator:Rusconi, Daniela ; Negri, Gloria ; Colapietro, Patrizia ; Picinelli, Chiara ; Milani, Donatella ; Spena, Silvia ; Magnani, Cinzia ; Silengo, Margherita Cirillo ; Sorasio, Lorena ; Curtisova, Vaclava ; Cavaliere, Maria Luigia ; Prontera, Paolo ; Stangoni, Gabriela ; Ferrero, Giovanni Battista ; Biamino, Elisa ; Fischetto, Rita ; Piccione, Maria ; Gasparini, Paolo ; Salviati, Leonardo ; Selicorni, Angelo ; Finelli, Palma ; Larizza, Lidia ; Gervasini, Cristina
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2015-06, Vol.134 (6), p.613-626
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Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
Author / Creator:Colombo, Elisa Adele ; Spaccini, Luigina ; Volpi, Ludovica ; Negri, Gloria ; Cittaro, Davide ; Lazarevic, Dejan ; Zirpoli, Salvatore ; Farolfi, Andrea ; Gervasini, Cristina ; Cubellis, Maria Vittoria ; Larizza, Lidia
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-10, Vol.11 (1), p.136-136, Article 136
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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes
Author / Creator:Russo, Silvia ; Calzari, Luciano ; Mussa, Alessandro ; Mainini, Ester ; Cassina, Matteo ; Di Candia, Stefania ; Clementi, Maurizio ; Guzzetti, Sara ; Tabano, Silvia ; Miozzo, Monica ; Sirchia, Silvia ; Finelli, Palma ; Prontera, Paolo ; Maitz, Silvia ; Sorge, Giovanni ; Calcagno, Annalisa ; Maghnie, Mohamad ; Divizia, Maria Teresa ; Melis, Daniela ; Manfredini, Emanuela ; Ferrero, Giovanni Battista ; Pecile, Vanna ; Larizza, Lidia
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2016-03, Vol.8 (23), p.23-23, Article 23
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Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
Author / Creator:Azzollini, Jacopo ; Rovina, Davide ; Gervasini, Cristina ; Parenti, Ilaria ; Fratoni, Alessia ; Cubellis, Maria Vittoria ; Cerri, Amilcare ; Pietrogrande, Luca ; Larizza, Lidia
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-11, Vol.59 (11), p.631-637
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Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome
Author / Creator:Mussa, Alessandro ; Peruzzi, Licia ; Chiesa, Nicoletta ; De Crescenzo, Agostina ; Russo, Silvia ; Melis, Daniela ; Tarani, Luigi ; Baldassarre, Giuseppina ; Larizza, Lidia ; Riccio, Andrea ; Silengo, Margherita ; Ferrero, Giovanni Battista
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Pediatric nephrology (Berlin, West), 2012-03, Vol.27 (3), p.397-406
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A familial t(4;8) translocation segregates with epilepsy and migraine with aura
Author / Creator:Crippa, Milena ; Malatesta, Paola ; Bonati, Maria Teresa ; Trapasso, Francesco ; Fortunato, Francesco ; Annesi, Grazia ; Larizza, Lidia ; Labate, Angelo ; Finelli, Palma ; Perrotti, Nicola ; Gambardella, Antonio
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-05, Vol.7 (5), p.855-859
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13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature
Author / Creator:Bestetti, Ilaria ; Sironi, Alessandra ; Catusi, Ilaria ; Mariani, Milena ; Giardino, Daniela ; Manoukian, Siranoush ; Milani, Donatella ; Larizza, Lidia ; Castronovo, Chiara ; Finelli, Palma
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2018-09, Vol.11 (1), p.53-8, Article 53
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Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Author / Creator:RUSSO, Silvia ; MASCIADRI, Maura ; TENCONI, Romano ; SELICORNI, Angelo ; LARIZZA, Lidia ; GERVASINI, Cristina ; AZZOLLINI, Jacopo ; CEREDA, Anna ; ZAMPINO, Giuseppe ; HAAS, Oskar ; SCARANO, Gioacchino ; DI ROCCO, Maja ; FINELLI, Palma
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.734-741
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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
Author / Creator:Colombo, Elisa A ; Bazan, J Fernando ; Negri, Gloria ; Gervasini, Cristina ; Elcioglu, Nursel H ; Yucelten, Deniz ; Altunay, Ilknur ; Cetincelik, Umram ; Teti, Anna ; Del Fattore, Andrea ; Luciani, Matteo ; Sullivan, Spencer K ; Yan, Albert C ; Volpi, Ludovica ; Larizza, Lidia
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-01, Vol.7 (1), p.7-7, Article 7
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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
Author / Creator:Crippa, Milena ; Rusconi, Daniela ; Castronovo, Chiara ; Bestetti, Ilaria ; Russo, Silvia ; Cereda, Anna ; Selicorni, Angelo ; Larizza, Lidia ; Finelli, Palma
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2015-03, Vol.8 (1), p.20, Article 20
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Evaluation of autism traits in Angelman syndrome : a resource to unfold autism genes
Author / Creator:BONATI, Maria Teresa ; RUSSO, Silvia ; FINELLI, Palma ; VALSECCHI, Maria Rosa ; COGLIATI, Francesca ; CAVALLERI, Florinda ; ROBERTS, Wendy ; ELIA, Maurizio ; LARIZZA, Lidia
Publisher:Berlin: Springer
Journal title:Neurogenetics, 2007-08, Vol.8 (3), p.169-178
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The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines
Author / Creator:Beghini, Alessandro ; Magnani, Ivana ; Roversi, Gaia ; Piepoli, Tiziana ; Terlizzi, Simona Di ; Moroni, Ramona F ; Pollo, Bianca ; Fuhrman Conti, Anna M ; Cowell, John K ; Finocchiaro, Gaetano ; Larizza, Lidia
Publisher:London: Nature Publishing Group UK
Journal title:Oncogene, 2003-05, Vol.22 (17), p.2581-2591
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Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes
Author / Creator:Larizza, Lidia ; Colombo, Elisa Adele
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-09, Vol.25 (17), p.9387
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Rothmund-Thomson syndrome

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Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein–Taybi Intellectual Disability Syndromes

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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

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Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

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Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling

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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

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Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

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Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy

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Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

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A familial t(4;8) translocation segregates with epilepsy and migraine with aura

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13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature

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Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

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Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

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Evaluation of autism traits in Angelman syndrome : a resource to unfold autism genes

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The neural progenitor-restricted isoform of the MARK4 gene in 19q13.2 is upregulated in human gliomas and overexpressed in a subset of glioblastoma cell lines

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Interdependence between Nuclear Pore Gatekeepers and Genome Caretakers: Cues from Genome Instability Syndromes

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