检索结果 - Cecilia Anichini
- Showing 1 - 4 results of 4
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1
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour 由 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
出版 2006Artigo -
2
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites 由 Jasmin Beygo, Valentina Citro, Angela Sparago, Agostina De Crescenzo, Flavia Cerrato, Melanie Heitmann, Katrin Rademacher, Andrea Guala, Thorsten Enklaar, Cecilia Anichini, Margherita Silengo, Notker Graf, Dirk Prawitt, Maria Vittoria Cubellis, Bernhard Horsthemke, Karin Buiting, Andrea Riccio
出版 2012Artigo -
3
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair 由 Viviana Cordeddu, Elia Di Schiavi, L Pennacchio, Avi Ma’ayan, Anna Sárközy, Valentina Fodale, Serena Cecchetti, Alessio Cardinale, Joel Martin, Wendy Schackwitz, Anna Lipzen, Giuseppe Zampino, Laura Mazzanti, M. Cristina Digilio, Simone Martinelli, Elisabetta Flex, Francesca Romana Lepri, Deborah Bartholdi, Kerstin Kutsche, Giovanni Battista Ferrero, Cecilia Anichini, Angelo Selicorni, Cesare Rossi, Romano Tenconi, Martin Zenker, Daniela Merlo, Bruno Dallapiccola, Ravi Iyengar, Paolo Bazzicalupo, Bruce D. Gelb, Marco Tartaglia
出版 2009Artigo -
4
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients 由 Manuela De Gregori, Roberto Ciccone, Pamela Magini, Tiziano Pramparo, Stefania Gimelli, Jole Messa, Francesca Novara, Annalisa Vetro, Elena Rossi, P Maraschio, María Clara Bonaglia, Cecilia Anichini, Giovanni Battista Ferrero, Margherita Silengo, Elisa Fazzi, Adriana Zatterale, Rita Fischetto, Carlo Previderé, S. Belli, Alessandra Turci, G Calabrese, Franca Bernardi, Emanuela Meneghelli, Mariluce Riegel, Mariano Rocchi, Silvana Guerneri, Faustina Lalatta, Leopoldo Zelante, Corrado Romano, Marco Fichera, Teresa Mattina, Giulia Arrigo, Marcella Zollino, Sabrina Giglio, Fortunato Lonardo, Aldo Bonfante, Alessandra Ferlini, Francisco Tejada Cifuentes, Hilde Van Esch, Liesbeth Backx, Albert Schinzel, Joris Vermeesch, Orsetta Zuffardi
出版 2007Artigo
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Biology
Gene
Genetics
Phenotype
Allele
CTCF
DNA methylation
Enhancer
Gene expression
Genomic imprinting
Imprinting (psychology)
Methylation
Penetrance
Beckwith–Wiedemann syndrome
Breakpoint
Cancer research
Cell biology
Chromosomal rearrangement
Chromosomal translocation
Chromosome
Cytogenetics
Gene silencing
Karyotype
Locus (genetics)
Missense mutation
Mutation
Myristoylation
Noonan syndrome
Phosphorylation
Receptor