Literature DB >> 27556864

Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome.

Anupama Narla1, Natalie L Davis2, Corinne Lavasseur1, Carolyn Wong1, Bertil Glader1,3.   

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Year:  2016        PMID： 27556864      PMCID： PMC5937275          DOI： 10.1002/ajh.24541

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  6 in total

Review 1.  Ribosomopathies: human disorders of ribosome dysfunction.

Authors:  Anupama Narla; Benjamin L Ebert
Journal:  Blood       Date:  2010-03-01       Impact factor: 22.113

2.  Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

Authors:  Vijay G Sankaran; Roxanne Ghazvinian; Ron Do; Prathapan Thiru; Jo-Anne Vergilio; Alan H Beggs; Colin A Sieff; Stuart H Orkin; David G Nathan; Eric S Lander; Hanna T Gazda
Journal:  J Clin Invest       Date:  2012-06-18       Impact factor: 14.808

3.  Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.

Authors:  John H Fargo; Christian P Kratz; Neelam Giri; Sharon A Savage; Carolyn Wong; Karen Backer; Blanche P Alter; Bertil Glader
Journal:  Br J Haematol       Date:  2012-12-17       Impact factor: 6.998

4.  Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia.

Authors:  B E Glader; K Backer; L K Diamond
Journal:  N Engl J Med       Date:  1983-12-15       Impact factor: 91.245

5.  Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Authors:  Hanna T Gazda; Mee Rie Sheen; Adrianna Vlachos; Valerie Choesmel; Marie-Françoise O'Donohue; Hal Schneider; Natasha Darras; Catherine Hasman; Colin A Sieff; Peter E Newburger; Sarah E 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:  Am J Hum Genet       Date:  2008-12       Impact factor: 11.025

6.  Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.

Authors:  Benjamin L Ebert; Jennifer Pretz; Jocelyn Bosco; Cindy Y Chang; Pablo Tamayo; Naomi Galili; Azra Raza; David E Root; Eyal Attar; Steven R Ellis; Todd R Golub
Journal:  Nature       Date:  2008-01-17       Impact factor: 49.962
  6 in total
  4 in total

1.  The Genetic Landscape of Diamond-Blackfan Anemia.

Authors:  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; Michal 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 H O'Donnell-Luria; Namrata Gupta; Stacey B Gabriel; Daniel G MacArthur; Eric S Lander; Monkol Lek; Lydie Da Costa; David G Nathan; Andrei A Korostelev; Ron Do; Vijay G Sankaran; Hanna T Gazda
Journal:  Am J Hum Genet       Date:  2018-11-29       Impact factor: 11.025

Review 2.  Diamond-Blackfan anemia.

Authors:  Lydie Da Costa; Thierry Leblanc; Narla Mohandas
Journal:  Blood       Date:  2020-09-10       Impact factor: 25.476

Review 3.  Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome.

Authors:  K M Sakamoto; A Narla
Journal:  Leukemia       Date:  2017-09-08       Impact factor: 11.528

Review 4.  An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.

Authors:  Lydie Da Costa; Anupama Narla; Narla Mohandas
Journal:  F1000Res       Date:  2018-08-29
  4 in total

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