Literature DB >> 21248735

Clinical utility gene card for: Diamond Blackfan anemia.

Adrianna Vlachos1, Niklas Dahl, Irma Dianzani, Jeffrey M Lipton.   

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Year:  2011        PMID： 21248735      PMCID： PMC3083626          DOI： 10.1038/ejhg.2010.247

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  18 in total

1.  Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI).

Authors:  T N Willig; C M Niemeyer; T Leblanc; C Tiemann; A Robert; J Budde; A Lambiliotte; E Kohne; G Souillet; S Eber; J L Stephan; R Girot; P Bordigoni; G Cornu; S Blanche; J M Guillard; N Mohandas; G Tchernia
Journal:  Pediatr Res       Date:  1999-11       Impact factor: 3.756

2.  Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

Authors:  A Vlachos; N Federman; C Reyes-Haley; J Abramson; J M Lipton
Journal:  Bone Marrow Transplant       Date:  2001-02       Impact factor: 5.483

Review 3.  Preimplantation genetics: Improving access to stem cell therapy.

Authors:  Anver Kuliev; Svetlana Rechitsky; Ilan Tur-Kaspa; Yury Verlinsky
Journal:  Ann N Y Acad Sci       Date:  2005       Impact factor: 5.691

4.  Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

Authors:  Hanna T Gazda; Agnieszka Grabowska; Lilia B Merida-Long; Elzbieta Latawiec; Hal E Schneider; Jeffrey M Lipton; Adrianna Vlachos; Eva Atsidaftos; Sarah E Ball; Karen A Orfali; Edyta Niewiadomska; Lydie Da Costa; Gil Tchernia; Charlotte Niemeyer; Joerg J Meerpohl; Joachim Stahl; Gerhard Schratt; Bertil Glader; Karen Backer; Carolyn Wong; David G Nathan; Alan H Beggs; Colin A Sieff
Journal:  Am J Hum Genet       Date:  2006-11-02       Impact factor: 11.025

5.  RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.

Authors:  Hanna T Gazda; Rong Zhong; Lilia Long; Edyta Niewiadomska; Jeffrey M Lipton; Anna Ploszynska; Jan M Zaucha; Adrianna Vlachos; Evangelia Atsidaftos; David H Viskochil; Charlotte M Niemeyer; Joerg J Meerpohl; Roma Rokicka-Milewska; Dagmar Pospisilova; W Wiktor-Jedrzejczak; David G Nathan; Alan H Beggs; Colin A Sieff
Journal:  Br J Haematol       Date:  2004-10       Impact factor: 6.998

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

Authors:  Jason E Farrar; Michelle Nater; Emi Caywood; Michael A McDevitt; Jeanne Kowalski; Clifford M Takemoto; C Conover Talbot; Paul Meltzer; Diane Esposito; Alan H Beggs; Hal E Schneider; Agnieszka Grabowska; Sarah E Ball; Edyta Niewiadomska; Colin A Sieff; Adrianna Vlachos; Eva Atsidaftos; Steven R Ellis; Jeffrey M Lipton; Hanna T Gazda; Robert J Arceci
Journal:  Blood       Date:  2008-06-05       Impact factor: 22.113

Review 7.  RPS19 mutations in patients with Diamond-Blackfan anemia.

Authors:  Maria Francesca Campagnoli; Ugo Ramenghi; Marta Armiraglio; Paola Quarello; Emanuela Garelli; Adriana Carando; Federica Avondo; Elisa Pavesi; Sébastien Fribourg; Pierre-Emmanuel Gleizes; Fabrizio Loreni; Irma Dianzani
Journal:  Hum Mutat       Date:  2008-07       Impact factor: 4.878

8.  Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.

Authors:  Radek Cmejla; Jana Cmejlova; Helena Handrkova; Jiri Petrak; Dagmar Pospisilova
Journal:  Hum Mutat       Date:  2007-12       Impact factor: 4.878

9.  The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.

Authors:  Ilenia Boria; Emanuela Garelli; Hanna T Gazda; Anna Aspesi; Paola Quarello; Elisa Pavesi; Daniela Ferrante; Joerg J Meerpohl; Mutlu Kartal; Lydie Da Costa; Alexis Proust; Thierry Leblanc; Maud Simansour; Niklas Dahl; Anne-Sophie Fröjmark; Dagmar Pospisilova; Radek Cmejla; Alan H Beggs; Mee R Sheen; Michael Landowski; Christopher M Buros; Catherine M Clinton; Lori J Dobson; Adrianna Vlachos; Eva Atsidaftos; Jeffrey M Lipton; Steven R Ellis; Ugo Ramenghi; Irma Dianzani
Journal:  Hum Mutat       Date:  2010-12       Impact factor: 4.878

10.  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Authors:  N Draptchinskaia; P Gustavsson; B Andersson; M Pettersson; T N Willig; I Dianzani; S Ball; G Tchernia; J Klar; H Matsson; D Tentler; N Mohandas; B Carlsson; N Dahl
Journal:  Nat Genet       Date:  1999-02       Impact factor: 38.330
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  1 in total

Review 1.  Recent insights into inherited bone marrow failure syndromes.

Authors:  Shefali Parikh; Monica Bessler
Journal:  Curr Opin Pediatr       Date:  2012-02       Impact factor: 2.856
  1 in total

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