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Journal Articles

Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations

Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Francoise O’Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A. Sieff, Peter E. Newburger, Sarah Ball, Edyta Niewiadomska, Michal Matysiak, Jan M. Zaucha, Bertil Glader, Charlotte Niemeyer, Joerg J. Meerpohl, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Alan H. Beggs
Journal: Blood
Blood (2008) 112 (11): 39.
https://doi.org/10.1182/blood.V112.11.39.39
Published: 2008
Journal Articles

Transfusion Independence Achieved in a Case of Diamond Blackfan Anaemia by Essential Amino Acid Supplementation

Diana Wright, Sarah Ball, Josu de la Fuente
Journal: Blood
Blood (2008) 112 (11): 4119.
https://doi.org/10.1182/blood.V112.11.4119.4119
Published: 2008
Journal Articles

Normal Initial Response to Erythropoietin but Impaired Proliferation in 2-Phase Erythroid Culture in Diamond Blackfan Anemia.

Sarah Ball, Carine Marius, Yaw Ohene-Abuakwa
Journal: Blood
Blood (2007) 110 (11): 1685.
https://doi.org/10.1182/blood.V110.11.1685.1685
Published: 2007
Journal Articles

A Large Ribosomal Subunit Protein Abnormality in Diamond-Blackfan Anemia (DBA).

Jason Farrar, Michelle Nater, Emi Caywood, Michael McDevitt, Jeanne Kowalski, Clifford Takemoto, Connie Talbot, Paul Meltzer, Diane Esposito, Alan Beggs, Hal Schneider, Agnieszka Grabowska, Sarah Ball, Edyta Niewiadomska, Colin Sieff, Adrianna Vlachos, Eva Atsidaftos, Steven Ellis, Jeffrey Lipton, Hanna Gazda, Robert J. Arceci
Journal: Blood
Blood (2007) 110 (11): 422.
https://doi.org/10.1182/blood.V110.11.422.422
Published: 2007
Journal Articles

Proliferative Defect but Normal Transcriptional Response to Erythropoietin in Diamond Blackfan Anemia Erythroid Progenitor Cells in 2-Phase Erythroid Culture.

Carine Marius, BSc, Yaw Ohene-Abuakwa, PhD, Ken Laing, PhD, Sarah Ball, DM
Journal: Blood
Blood (2006) 108 (11): 1309.
https://doi.org/10.1182/blood.V108.11.1309.1309
Published: 2006
Journal Articles

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia.

Hanna Gazda, Agnieszka Grabowska, Lilia Long, Elzbieta Latawiec, Hal Schneider, Jeffrey Lipton, Adrianna Vlachos, Eva Atsidaftos, Sarah Ball, Karen Orfali, Edyta Niewiadomska, Lydie Da Costa, Gilbert Jean Tchernia, Charlotte Marie Niemeyer, Joerg Meerpohl, Joachim Stahl, Gerhard Schratt, Bertil Glader, David G. Nathan, Alan H. Beggs, Colin A. Sieff
Journal: Blood
Blood (2006) 108 (11): 181.
https://doi.org/10.1182/blood.V108.11.181.181
Published: 2006
Journal Articles

Evidence for Ribosomal Insufficiency Affecting Non-Erythroid Cells in RPS19 and Non-RPS19 Mutated DBA.

Sarah Ball, Claire Andres, Carine Marius, Yaw Ohene-Abuakwa, Michael Clemens
Journal: Blood
Blood (2005) 106 (11): 3547.
https://doi.org/10.1182/blood.V106.11.3547.3547
Published: 2005
Journal Articles

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

Hanna Gazda, Jeffrey M. Lipton, Thiébaut-Noël Willig, Sarah Ball, Charlotte M. Niemeyer, Gil Tchernia, Narla Mohandas, Mark J. Daly, Anna Ploszynska, Karen A. Orfali, Adrianna Vlachos, Bertil E. Glader, Roma Rokicka-Milewska, Akira Ohara, David Baker, Dagmar Pospisilova, Allison Webber, David H. Viskochil, David G. Nathan, Alan H. Beggs, Colin A. Sieff
Journal: Blood
Blood (2001) 97 (7): 2145–2150.
https://doi.org/10.1182/blood.V97.7.2145
Published: 2001
Journal Articles

Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression

Thiébaut-Noël Willig, Natalia Draptchinskaia, Irma Dianzani, Sarah Ball, Charlotte Niemeyer, Ugo Ramenghi, Karen Orfali, Peter Gustavsson, Emanuela Garelli, Alfredo Brusco, Christian Tiemann, Jean Louis Pérignon, Christiane Bouchier, Lawrence Cicchiello, Niklas Dahl, Narla Mohandas, Gil Tchernia
Journal: Blood
Blood (1999) 94 (12): 4294–4306.
https://doi.org/10.1182/blood.V94.12.4294
Published: 1999