Literature DB >> 24634369

Diamond Blackfan anemia: a Cheshire cat of hematology.

Jason E Farrar1.   

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Year:  2014        PMID： 24634369      PMCID： PMC4255456          DOI： 10.1002/pbc.25014

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


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  11 in total

1.  Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.

Authors:  K E Nichols; J D Crispino; M Poncz; J G White; S H Orkin; J M Maris; M J Weiss
Journal:  Nat Genet       Date:  2000-03       Impact factor: 38.330

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

Authors:  Adrianna Vlachos; Philip S Rosenberg; Eva Atsidaftos; Blanche P Alter; Jeffrey M Lipton
Journal:  Blood       Date:  2012-02-23       Impact factor: 22.113

3.  Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.

Authors:  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; Michal Matysiak; Bertil Glader; Eva Atsidaftos; Jeffrey M Lipton; Pierre-Emmanuel Gleizes; Alan H Beggs
Journal:  Hum Mutat       Date:  2012-04-16       Impact factor: 4.878

4.  What's in a name?

Authors:  Mitchell J Weiss; Philip J Mason; Monica Bessler
Journal:  J Clin Invest       Date:  2012-06-18       Impact factor: 14.808

5.  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

6.  An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis.

Authors:  Luciana M Hollanda; Carmen S P Lima; Anderson F Cunha; Dulcinéia M Albuquerque; José Vassallo; Margareth C Ozelo; Paulo P Joazeiro; Sara T O Saad; Fernando F Costa
Journal:  Nat Genet       Date:  2006-06-18       Impact factor: 38.330

7.  Ribosomal protein gene deletions in Diamond-Blackfan anemia.

Authors:  Jason E Farrar; Adrianna Vlachos; Eva Atsidaftos; Hannah Carlson-Donohoe; Thomas C Markello; Robert J Arceci; Steven R Ellis; Jeffrey M Lipton; David M Bodine
Journal:  Blood       Date:  2011-11-01       Impact factor: 22.113

Review 8.  Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.

Authors:  Jason E Farrar; Niklas Dahl
Journal:  Semin Hematol       Date:  2011-04       Impact factor: 3.851

Review 9.  GATA1 mutations in Down syndrome: implications for biology and diagnosis of children with transient myeloproliferative disorder and acute megakaryoblastic leukemia.

Authors:  John D Crispino
Journal:  Pediatr Blood Cancer       Date:  2005-01       Impact factor: 3.167

10.  Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Authors:  Sara Parrella; Anna Aspesi; Paola Quarello; Emanuela Garelli; Elisa Pavesi; Adriana Carando; Margherita Nardi; Steven R Ellis; Ugo Ramenghi; Irma Dianzani
Journal:  Pediatr Blood Cancer       Date:  2014-01-22       Impact factor: 3.167
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