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

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

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 86 (2), pp.222-228. ⟨10.1016/j.ajhg.2009.12.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 86 (2), pp.222-8. ⟨10.1016/j.ajhg.2009.12.015⟩

International audience; Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec83c48f96914ae2228a3c17e1299b9

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

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

Publikováno v: The American Journal of Human Genetics. 79:1110-1118

Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in appr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21fabe76c95738b747ce8b4d2181c185
https://doi.org/10.1086/510020

Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes

Autor: Yiping Shen, Alan H. Beggs, Elicia Estrella, Andrew S Cheng, Bai-Lin Wu, Louis M. Kunkel, Va Lip, Caitlin Barrett, Poh San Lai, Hal E. Schneider, Stephanie L. Burgess, Richard R. Bennett, Basil T. Darras

Publikováno v: BMC Genetics
BMC Genetics, Vol 10, Iss 1, p 66 (2009)

Background One of the most common and efficient methods for detecting mutations in genes is PCR amplification followed by direct sequencing. Until recently, the process of designing PCR assays has been to focus on individual assay parameters rather t

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http://europepmc.org/articles/PMC2781300

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

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

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2008, 83 (6), pp.769-780. ⟨10.1016/j.ajhg.2008.11.004⟩

Diamond-Blackfan anemia (DBA), a congenital bone-marrow-failure syndrome, is characterized by red blood cell aplasia, macrocytic anemia, clinical heterogeneity, and increased risk of malignancy. Although anemia is the most prominent feature of DBA, t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f5d3a59ebf9cd3805b24a1cda0bb3f

Ribosomal Protein Genes S10 and S26 Are Commonly Mutated in Diamond-Blackfan Anemia

Autor: Alan H. Beggs, Edyta Niewiadomska, Colin A. Sieff, Hanna T. Gazda, Catherine Clinton, Michał Matysiak, Mee Rie Sheen, Hal E. Schneider, Jeffrey M. Lipton, Marie-Françoise O'Donohue, Pierre-Emmanuel Gleizes, Peter E. Newburger, Adrianna Vlachos, Leana Doherty, Sarah E. Ball, Bertil Glader, Valérie Choesmel, Eva Atsidaftos

Publikováno v: ResearcherID

Abstract 175 Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by anemia usually presenting during infancy or in early childhood, birth defects, and increased risk of cancer. Although anemia is the most prominen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::609cd0685a7482ac68f4dd1bea16e8a0
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000272725800176&KeyUID=WOS:000272725800176