Sfoglia per Autore
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
2013 C. Gervasini, I. Parenti, C. Picinelli, J. Azzollini, M. Masciadri, A. Cereda, A. Selicorni, S. Russo, P. Finelli, L. Larizza
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
2013 C. Gervasini, S. Russo, A. Cereda, I. Parenti, M. Masciadri, J. Azzollini, D. Melis, T. Aravena, B. Doray, A. Ferrarini, L. Garavelli, A. Selicorni, L. Larizza
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls
2014 I. Parenti, D. Rovina, M. Masciadri, A. Cereda, J. Azzollini, C. Picinelli, G. Limongelli, P. Finelli, A. Selicorni, S. Russo, C. Gervasini, L. Larizza
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
2014 J. Azzollini, D. Rovina, C. Gervasini, I. Parenti, A. Fratoni, M. Cubellis, A. Cerri, L. Pietrogrande, L. Larizza
Hidden Mutations in Cornelia de Lange Syndrome : Limitations of Sanger Sequencing in Molecular Diagnostics
2015 D. Braunholz, C. Obieglo, I. Parenti, J. Pozojevic, J. Eckhold, B. Reiz, I. Brænne, K.S. Wendt, E. Watrin, J. Vodopiutz, H. Rieder, G. Gillessen-Kaesbach, F.J. Kaiser
De novo heterozygous mutations in SMC3 cause a range of Cornelia De Lange syndrome-overlapping phenotypes
2015 M.C. Gil-Rodríguez, M.A. Deardorff, M. Ansari, C.A. Tan, I. Parenti, C. Baquero-Montoya, L.B. Ousager, B. Puisac, M. Hernández-Marcos, M.E. Teresa-Rodrigo, I. Marcos-Alcalde, J. Wesselink, S. Lusa-Bernal, E.K. Bijlsma, D. Braunholz, I. Bueno-Martinez, D. Clark, N.S. Cooper, C.J. Curry, R. Fisher, A. Fryer, J. Ganesh, C. Gervasini, G. Gillessen-Kaesbach, Y. Guo, H. Hakonarson, R.J. Hopkin, M. Kaur, B.J. Keating, M. Kibaek, E. Kinning, T. Kleefstra, A.D. Kline, E. Kuchinskaya, L. Larizza, Y.R. Li, X. Liu, M. Mariani, J.D. Picker, Á. Pié, J. Pozojevic, E. Queralt, J. Richer, E. Roeder, A. Sinha, R.H. Scott, J. So, K.A. Wusik, L. Wilson, J. Zhang, P. Gómez-Puertas, C.H. Casale, L. Ström, A. Selicorni, F.J. Ramos, L.G. Jackson, I.D. Krantz, S. Das, R.C.M. Hennekam, F.J. Kaiser, D.R. Fitzpatrick, J. Pié
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes
2015 N. Bramswig, H. Lüdecke, Y. Alanay, B. Albrecht, A. Barthelmie, K. Boduroglu, D. Braunholz, A. Caliebe, K. Chrzanowska, J. Czeschik, S. Endele, E. Graf, E. Guillén-Navarro, P. Kiper, V. López-González, I. Parenti, J. Pozojevic, G. Utine, T. Wieland, F. Kaiser, B. Wollnik, T. Strom, D. Wieczorek
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
2016 I. Parenti, C. Gervasini, J. Pozojevic, L. Graul Neumann, J. Azzollini, D. Braunholz, E. Watrin, K.S. Wendt, A. Cereda, D. Cittaro, G. Gillessen Kaesbach, D. Lazarevic, M. Mariani, S. Russo, R. Werner, P. Krawitz, L. Larizza, A. Selicorni, F.J. Kaiser
CORNELIA DE LANGE SYNDROME AND RELATED DISORDERS: NEW INSIGHTS INTO GLOBAL TRANSCRIPTIONAL DISTURBANCES DUE TO MUTATIONS IN CHROMATIN-ASSOCIATED FACTORS
2016 I. Parenti
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction
2016 I. Parenti, C. Gervasini, J. Pozojevic, K.S. Wendt, E. Watrin, J. Azzollini, D. Braunholz, K. Buiting, A. Cereda, H. Engels, L. Garavelli, R. Glazar, B. Graffmann, L. Larizza, H.J. Lüdecke, M. Mariani, M. Masciadri, J. Pié, F.J. Ramos, S. Russo, A. Selicorni, M. Stefanova, T.M. Strom, R. Werner, J. Wierzba, G. Zampino, G. Gillessen Kaesbach, D. Wieczorek, F.J. Kaiser
Chromatinopathies: a focus on Cornelia de Lange Syndrome
2020 L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
2024 S. Haghshenas, H.J. Bout, J.M. Schijns, M.A. Levy, J. Kerkhof, P. Bhai, H. Mcconkey, Z.A. Jenkins, E.M. Williams, B.J. Halliday, S.A. Huisman, P. Lauffer, V. de Waard, L. Witteveen, S. Banka, A.F. Brady, E. Galazzi, J. van Gils, A.C.E. Hurst, F.J. Kaiser, D. Lacombe, A.F. Martinez-Monseny, P. Fergelot, F.P. Monteiro, I. Parenti, L. Persani, F.S. Simarro, B.N. Simpson, M. Alders, S.P. Robertson, B. Sadikovic, L.A. Menke
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