Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

Por Vlachos, Adrianna, Rosenberg, Philip S., Atsidaftos, Eva, Alter, Blanche P., Lipton, Jeffrey M.
Publicado em 2012

Ribosomal protein gene deletions in Diamond-Blackfan anemia

Por Farrar, Jason E., Vlachos, Adrianna, Atsidaftos, Eva, Carlson-Donohoe, Hannah, Markello, Thomas C., Arceci, Robert J., Ellis, Steven R., Lipton, Jeffrey M., Bodine, David M.
Publicado em 2011

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

Por Vlachos, Adrianna, Ball, Sarah, Dahl, Niklas, Alter, Blanche P, Sheth, Sujit, Ramenghi, Ugo, Meerpohl, Joerg, Karlsson, Stefan, Liu, Johnson M, Leblanc, Thierry, Paley, Carole, Kang, Elizabeth M, Leder, Eva Judmann, Atsidaftos, Eva, Shimamura, Akiko, Bessler, Monica, Glader, Bertil, Lipton, Jeffrey M
Publicado em 2008

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome

Por Vlachos, Adrianna, Farrar, Jason E., Atsidaftos, Eva, Muir, Ellen, Narla, Anupama, Markello, Thomas C., Singh, Sharon A., Landowski, Michael, Gazda, Hanna T., Blanc, Lionel, Liu, Johnson M., Ellis, Steven R., Arceci, Robert J., Ebert, Benjamin L., Bodine, David M., Lipton, Jeffrey M.
Publicado em 2013

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

Por Landowski, Michael, O’Donohue, Marie-Françoise, Buros, Christopher, Ghazvinian, Roxanne, Montel-Lehry, Nathalie, Vlachos, Adrianna, Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Atsidaftos, Eva, Lipton, Jeffrey M., Beggs, Alan H., Gleizes, Pierre-Emmanuel, Gazda, Hanna T.
Publicado em 2013

Exploiting Pre-rRNA Processing in Diamond Blackfan Anemia Gene Discovery and Diagnosis

Por Farrar, Jason E., Quarello, Paola, Fisher, Ross, O’Brien, Kelly A., Aspesi, Anna, Parrella, Sara, Henson, Adrianna L., Seidel, Nancy E., Atsidaftos, Eva, Prakash, Supraja, Bari, Shahla, Garelli, Emanuela, Arceci, Robert J., Dianzani, Irma, Ramenghi, Ugo, Vlachos, Adrianna, Lipton, Jeffrey M., Bodine, David M., Ellis, Steven R.
Publicado no Am J Hematol (2014)

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

Por Doherty, Leana, Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Clinton, Catherine, Schneider, Hal E., Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Arceci, Robert J., Farrar, Jason E., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Gazda, Hanna T.
Publicado em 2010

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

Por Doherty, Leana, Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Clinton, Catherine, Schneider, Hal E., Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Arceci, Robert J., Farrar, Jason E., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Gazda, Hanna T.
Publicado em 2010

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-rRNA processing defect in Diamond-Blackfan anemia

Por Gazda, Hanna T., Preti, Milena, Sheen, Mee Rie, O’Donohue, Marie-Françoise, Vlachos, Adrianna, Davies, Stella M., Kattamis, Antonis, Doherty, Leana, Landowski, Michael, Buros, Christopher, Ghazvinian, Roxanne, Sieff, Colin A., Newburger, Peter E., Niewiadomska, Edyta, Matysiak, Michal, Glader, Bertil, Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Beggs, Alan H.
Publicado em 2012

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

Por Gazda, Hanna T., Sheen, Mee Rie, Vlachos, Adrianna, Choesmel, Valerie, O'Donohue, Marie-Françoise, Schneider, Hal, Darras, Natasha, Hasman, Catherine, Sieff, Colin A., Newburger, Peter E., Ball, Sarah E., Niewiadomska, Edyta, Matysiak, Michal, Zaucha, Jan M., Glader, Bertil, Niemeyer, Charlotte, Meerpohl, Joerg J., Atsidaftos, Eva, Lipton, Jeffrey M., Gleizes, Pierre-Emmanuel, Beggs, Alan H.
Publicado em 2008

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

Por Farrar, Jason E., Nater, Michelle, Caywood, Emi, McDevitt, Michael A., Kowalski, Jeanne, Takemoto, Clifford M., Talbot, C. Conover, Meltzer, Paul, Esposito, Diane, Beggs, Alan H., Schneider, Hal E., Grabowska, Agnieszka, Ball, Sarah E., Niewiadomska, Edyta, Sieff, Colin A., Vlachos, Adrianna, Atsidaftos, Eva, Ellis, Steven R., Lipton, Jeffrey M., Gazda, Hanna T., Arceci, Robert J.
Publicado em 2008

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

Por Gazda, Hanna T. , Grabowska, Agnieszka , Merida-Long, Lilia B. , Latawiec, Elzbieta , Schneider, Hal E. , Lipton, Jeffrey M. , Vlachos, Adrianna , Atsidaftos, Eva , Ball, Sarah E. , Orfali, Karen A. , Niewiadomska, Edyta , Da Costa, Lydie , Tchernia, Gil , Niemeyer, Charlotte , Meerpohl, Joerg J. , Stahl, Joachim , Schratt, Gerhard , Glader, Bertil , Backer, Karen , Wong, Carolyn , Nathan, David G. , Beggs, Alan H. , Sieff, Colin A. 
Publicado em 2006

The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update

Por Boria, Ilenia, Garelli, Emanuela, Gazda, Hanna T., Aspesi, Anna, Quarello, Paola, Pavesi, Elisa, Ferrante, Daniela, Meerpohl, Joerg J., Kartal, Mutlu, Da Costa, Lydie, Proust, Alexis, Leblanc, Thierry, Simansour, Maud, Dahl, Niklas, Fröjmark, Anne-Sophie, Pospisilova, Dagmar, Cmejla, Radek, Beggs, Alan H., Sheen, Mee R., Landowski, Michael, Buros, Christopher M., Clinton, Catherine M., Dobson, Lori J., Vlachos, Adrianna, Atsidaftos, Eva, Lipton, Jeffrey M., Ellis, Steven R., Ramenghi, Ugo, Dianzani, Irma
Publicado no Hum Mutat (2010)