Ngā hua rapu - Lidia Larizza
- E whakaatu ana i te 1 - 20 hua o te 28
- Haere ki te Whārangi Whai Ake
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Rothmund-Thomson syndrome mā Lidia Larizza, Gaia Roversi, Ludovica Volpi
I whakaputaina 2010Revisão -
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Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa mā Alessandro Beghini, MariaGrazia Tibiletti, Gaia Roversi, Anna Maria Chiaravalli, Giovanni Serio, Carlo Capella, Lidia Larizza
I whakaputaina 2001Artigo -
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Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome mā José P. López‐Atalaya, Cristina Gervasini, Federica Mottadelli, Silvia Spena, Maria Piccione, Gioacchino Scarano, Angelo Selicorni, Ángel Barco, Lidia Larizza
I whakaputaina 2011Artigo -
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Identification of novel genomic markers related to progression to glioblastoma through genomic profiling of 25 primary glioma cell lines mā Gaia Roversi, Rolph Pfundt, Ramona Frida Moroni, Ivana Magnani, S V van Reijmersdal, Bianca Pollo, Huub Straatman, Lidia Larizza, Eric Schoenmakers
I whakaputaina 2005Artigo -
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NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes mā Paola Riva, Lucia Corrado, Federica Natacci, Pierangela Castorina, Bai-Li Wu, Gretchen Schneider, Maurizio Clementi, Romano Tenconi, Bruce R. Korf, Lidia Larizza
I whakaputaina 2000Artigo -
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Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 mā Marco Venturin, Paolo Guarnieri, Federica Natacci, M Stabile, Romano Tenconi, Maurizio Clementi, Carmen Hernández, Peter Thompson, Meena Upadhyaya, Lidia Larizza, Paola Riva
I whakaputaina 2004Carta -
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Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes mā Silvia Russo, Margherita Marchi, Francesca Cogliati, Maria Teresa Bonati, Maria Pintaudi, E. Veneselli, Veronica Saletti, M. R. Balestrini, Bruria Ben‐Zeev, Lidia Larizza
I whakaputaina 2009Artigo -
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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 mā Alessandro Beghini, Ivana Magnani, Gaia Roversi, Tiziana Piepoli, Simona Di Terlizzi, Ramona Frida Moroni, Bianca Pollo, A. Conti, John K. Cowell, Gaetano Finocchiaro, Lidia Larizza
I whakaputaina 2003Artigo -
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Epigenetic modulation of the<i>IGF2</i>/<i>H19</i>imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction mā Silvia Tabano, Patrizia Colapietro, Irene Cetin, Francesca Romana Grati, Susanna Zanutto, Chiara Mandò, Patrizio Antonazzo, P. Pileri, Franca Rossella, Lidia Larizza, Silvia Maria Sirchia, Monica Miozzo
I whakaputaina 2010Artigo -
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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene mā Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabìo Macciardi, Rolph Pfundt, Eric Schoenmakers, Lidia Larizza
I whakaputaina 2009Artigo -
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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour mā Angela Sparago, Silvia Russo, Flavia Cerrato, Serena Ferraiuolo, Pierangela Castorina, Angelo Selicorni, Christine Schwienbacher, Massimo Negrini, Giovanni Battista Ferrero, Margherita Silengo, Cecilia Anichini, Lidia Larizza, Andrea Riccio
I whakaputaina 2006Artigo -
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SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome mā Cristina Gervasini, Francesca Romana Grati, Faustina Lalatta, Silvia Tabano, Barbara Gentilin, Patrizia Colapietro, Simona De Toffol, Giada Frontino, F. Motta, Silvia Maitz, Laura Bernardini, Bruno Dallapiccola, Luigi Fedele, Lidia Larizza, Monica Miozzo
I whakaputaina 2010Artigo -
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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 mā Elisa Adele Colombo, J. Fernando Bazán, Gloria Negri, Cristina Gervasini, Nursel Elçioğlu, Deniz Yücelten, İlknur Kıvanç Altunay, Umram Cetincelik, Anna Teti, Andrea Del Fattore, Matteo Luciani, Spencer K. Sullivan, Albert C. Yan, Ludovica Volpi, Lidia Larizza
I whakaputaina 2012Artigo -
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients mā Angela Bentivegna, Donatella Milani, Cristina Gervasini, Paola Castronovo, Federica Mottadelli, Stefano Manzini, Patrizia Colapietro, Lucio Giordano, Francesca Atzeri, Maria Teresa Divizia, Maria Luisa Giovannucci Uzielli, Giovanni Neri, Maria Francesca Bedeschi, Francesca Faravelli, Angelo Selicorni, Lidia Larizza
I whakaputaina 2006Artigo -
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Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype mā Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic, Luitgard Graul‐Neumann, Jacopo Azzollini, D. Braunholz, Erwan Watrin, Kerstin S. Wendt, Anna Cereda, Davide Cittaro, Gabriele Gillessen‐Kaesbach, Dejan Lazarević, Milena Mariani, Silvia Russo, Ralf Werner, Peter Krawitz, Lidia Larizza, Angelo Selicorni, Frank J. Kaiser
I whakaputaina 2015Artigo -
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TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival mā Lucia Micale, Carmela Fusco, Andrea Fontana, Raffaela Barbano, Bartolomeo Augello, Pasquelena De Nittis, Massimiliano Copetti, Maria Teresa Pellico, Barbara Mandriani, Dario Cocciadiferro, Paola Parrella, Vito Michele Fazio, Lucia Dimitri, Vincenzo D’Angelo, Chiara Novielli, Lidia Larizza, Antonio Daga, Giuseppe Merla
I whakaputaina 2015Artigo -
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13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients mā Lucia Ballarati, Elena Rossi, Maria Teresa Bonati, Stefania Gimelli, P Maraschio, Palma Finelli, Sabrina Giglio, Elisabetta Lapi, Maria Francesca Bedeschi, Silvana Guerneri, Giulia Arrigo, Maria Grazia Patricelli, Teresa Mattina, O. Guzzardi, Vanna Pecile, Adalgisa Police, Gioacchino Scarano, Lidia Larizza, Orsetta Zuffardi, Daniela Giardino
I whakaputaina 2006Carta -
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(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome mā Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Silengo, Lidia Larizza, Andrea Riccio, Giovanni Battista Ferrero
I whakaputaina 2015Artigo -
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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms mā Wigard P. Kloosterman, Masoumeh Tavakoli‐Yaraki, Markus J. van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson, Claudia Ruivenkamp, Myrthe Jager, Arie van Haeringen, Elly F. Ippel, Thomas Haaf, Eberhard Passarge, Ron Hochstenbach, Björn Menten, Lidia Larizza, Victor Guryev, Martin Poot, Edwin Cuppen
I whakaputaina 2012Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Genetics
Gene
Medicine
Phenotype
Chromosome
Gene expression
Mutation
Cancer research
DNA methylation
Beckwith–Wiedemann syndrome
Pathology
Genomic imprinting
Internal medicine
Methylation
Pregnancy
Allele
Breakpoint
Chromosomal translocation
Computational biology
Exon
Fetus
Glioma
Haploinsufficiency
Imprinting (psychology)
Karyotype
Locus (genetics)
Missense mutation
Molecular biology
Rubinstein–Taybi syndrome