Search Results - Eva Atsidaftos
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Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia by Michael Landowski, Marie-Françoise O’Donohue, Christopher Buros, Roxanne Ghazvinian, Nathalie Montel-Lehry, Adrianna Vlachos, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michał Matysiak, Bertil Glader, Eva Atsidaftos, Jeffrey M. Lipton, Alan H. Beggs, Pierre‐Emmanuel Gleizes, Hanna T. Gazda
Published 2013Artigo -
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Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference by Adrianna Vlachos, Sarah E. Ball, Niklas Dahl, Blanche P. Alter, Sujit Sheth, Ugo Ramenghi, Joerg J Meerpohl, Stefan Karlsson, Johnson M. Liu, Thierry Leblanc, Carole Paley, Elizabeth M. Kang, Eva Judmann Leder, Eva Atsidaftos, Akiko Shimamura, Monica Bessler, Bertil Glader, Jeffrey M. Lipton
Published 2008Artigo -
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Exploiting pre‐rRNA processing in <scp>D</scp>iamond <scp>B</scp>lackfan anemia gene discovery and diagnosis by Jason E. Farrar, Paola Quarello, Ross Fisher, Kelly A O'Brien, Anna Aspesi, Sara Parrella, Adrianna Henson, Nancy E. Seidel, Eva Atsidaftos, Supraja Prakash, Shahla Bari, Emanuela Garelli, R.J. Arceci, Irma Dianzani, Ugo Ramenghi, Adrianna Vlachos, Jeffrey M. Lipton, David M. Bodine, Steven R. Ellis
Published 2014Artigo -
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Frameshift mutation in p53 regulator<i>RPL26</i>is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia by Hanna T. Gazda, Milena Preti, Mee Rie Sheen, Marie-Françoise O’Donohue, Adrianna Vlachos, Stella M. Davies, Antonis Kattamis, Leana Doherty, Michael Landowski, Christopher Buros, Roxanne Ghazvinian, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michał Matysiak, Bertil Glader, Eva Atsidaftos, Jeffrey M. Lipton, Pierre‐Emmanuel Gleizes, Alan H. Beggs
Published 2012Artigo -
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Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia by Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, Valérie Choesmel, Marie-Françoise O’Donohue, Catherine Clinton, Hal E. Schneider, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michał Matysiak, Bertil Glader, R.J. Arceci, Jason E. Farrar, Eva Atsidaftos, Jeffrey M. Lipton, Pierre‐Emmanuel Gleizes, Hanna T. Gazda
Published 2010Artigo -
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Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia by Jason E. Farrar, Michelle Nater, Emi Caywood, Michael A. McDevitt, Jeanne Kowalski, Clifford M. Takemoto, C. Conover Talbot, Paul S. Meltzer, Diane Esposito, Alan H. Beggs, Hal E. Schneider, Agnieszka Grabowska, Sarah E. Ball, Edyta Niewiadomska, Colin A. Sieff, Adrianna Vlachos, Eva Atsidaftos, Steven R. Ellis, Jeffrey M. Lipton, Hanna T. Gazda, R.J. Arceci
Published 2008Artigo -
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Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients by Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos, Valérie Choesmel, Marie-Françoise O’Donohue, Hal E. Schneider, Natasha Darras, Catherine Hasman, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michał Matysiak, Jan Maciej Zaucha, Bertil Glader, Charlotte M. Niemeyer, Joerg J Meerpohl, Eva Atsidaftos, Jeffrey M. Lipton, Pierre‐Emmanuel Gleizes, Alan H. Beggs
Published 2008Artigo -
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Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia by Hanna T. Gazda, Agnieszka Grabowska, Lilia B. Merida‐Long, Elzbieta Latawiec, Hal E. Schneider, Jeffrey M. Lipton, Adrianna Vlachos, Eva Atsidaftos, Sarah E. Ball, Karen A. Orfali, Edyta Niewiadomska, Lydie Da Costa, Gil Tchernia, Charlotte M. Niemeyer, Joerg J Meerpohl, Joachim Stahl, Gerhard Schratt, Bertil Glader, Karen Backer, Carolyn Wong, David G. Nathan, Alan H. Beggs, Colin A. Sieff
Published 2006Artigo -
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The ribosomal basis of diamond-blackfan anemia: mutation and database update by Ilenia Boria, Emanuela Garelli, Hanna T. Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, Joerg J Meerpohl, Mutlu Kartal‐Kaess, Lydie Da Costa, Alexis Proust, Thierry Leblanc, Maud Simansour, Niklas Dahl, Anne-Sophie Fröjmark, Dagmar Pospı́šilová, Radek Čmejla, Alan H. Beggs, Mee Rie Sheen, Michael Landowski, Christopher Buros, Catherine Clinton, Lori Dobson, Adrianna Vlachos, Eva Atsidaftos, Jeffrey M. Lipton, Steven R. Ellis, Ugo Ramenghi, Irma Dianzani
Published 2010Artigo -
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The Genetic Landscape of Diamond-Blackfan Anemia by Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian, Michael H. Guo, Daniel Yuan, Leif S. Ludwig, Robert E. Handsaker, Nour J. Abdulhay, Claudia Fiorini, Giulio Genovese, Elaine T. Lim, Aaron Cheng, Beryl B. Cummings, Katherine R. Chao, Alan H. Beggs, Casie A. Genetti, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michał Matysiak, Adrianna Vlachos, Jeffrey M. Lipton, Eva Atsidaftos, Bertil Glader, Anupama Narla, Pierre‐Emmanuel Gleizes, Marie-Françoise O’Donohue, Nathalie Montel-Lehry, David J. Amor, Steven A. McCarroll, Anne O’Donnell‐Luria, Namrata Gupta, Stacey Gabriel, Daniel G. MacArthur, Eric S. Lander, Monkol Lek, Lydie Da Costa, David G. Nathan, А.A. Коростелев, Ron Do, Vijay G. Sankaran, Hanna T. Gazda
Published 2018Artigo -
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The Genetic Landscape of Diamond-Blackfan Anemia by Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian, Michael H. Guo, Daniel Yuan, Leif S. Ludwig, Robert E. Handsaker, Nour J. Abdulhay, Claudia Fiorini, Giulio Genovese, Elaine T. Lim, Aaron Cheng, Beryl B. Cummings, Katherine R. Chao, Alan H. Beggs, Casie A. Genetti, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michał Matysiak, Adrianna Vlachos, Jeffrey M. Lipton, Eva Atsidaftos, Bertil Glader, Anupama Narla, Pierre‐Emmanuel Gleizes, Marie-Françoise O’Donohue, Nathalie Montel-Lehry, David J. Amor, Steven A. McCarroll, Anne O’Donnell‐Luria, Namrata Gupta, Stacey Gabriel, Daniel G. MacArthur, Eric S. Lander, Monkol Lek, Lydie Da Costa, David G. Nathan, А.A. Коростелев, Ron Do, Vijay G. Sankaran, Hanna T. Gazda
Published 2019Errata/Corrigenda
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