Literature DB >> 23463023

Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.

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

Abstract

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Year:  2013        PMID： 23463023      PMCID： PMC3778360          DOI： 10.1038/ejhg.2013.34

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


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  23 in total

1.  High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

Authors:  Paola Quarello; Emanuela Garelli; Alfredo Brusco; Adriana Carando; Cecilia Mancini; Patrizia Pappi; Luciana Vinti; Johanna Svahn; Irma Dianzani; Ugo Ramenghi
Journal:  Haematologica       Date:  2012-06-11       Impact factor: 9.941

2.  A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.

Authors:  Ilenia Boria; Paola Quarello; Federica Avondo; Emanuela Garelli; Anna Aspesi; Adriana Carando; Maria Francesca Campagnoli; Irma Dianzani; Ugo Ramenghi
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

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.  Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Authors:  Leana Doherty; Mee Rie Sheen; Adrianna Vlachos; Valerie Choesmel; Marie-Françoise O'Donohue; Catherine Clinton; Hal E Schneider; Colin A Sieff; Peter E Newburger; Sarah E Ball; Edyta Niewiadomska; Michal Matysiak; Bertil Glader; Robert J Arceci; Jason E Farrar; Eva Atsidaftos; Jeffrey M Lipton; Pierre-Emmanuel Gleizes; Hanna T Gazda
Journal:  Am J Hum Genet       Date:  2010-01-28       Impact factor: 11.025

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

8.  Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.

Authors:  Paola Quarello; Emanuela Garelli; Adriana Carando; Alfredo Brusco; Roberto Calabrese; Carlo Dufour; Daniela Longoni; Aldo Misuraca; Luciana Vinti; Anna Aspesi; Laura Biondini; Fabrizio Loreni; Irma Dianzani; Ugo Ramenghi
Journal:  Haematologica       Date:  2009-09-22       Impact factor: 9.941

9.  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

10.  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
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  18 in total

1.  Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study.

Authors:  Yang Wan; Xiaojuan Chen; Wenbin An; Min Ruan; Jingliao Zhang; Lixian Chang; Ranran Zhang; Shuai Zhu; Yingchi Zhang; Wenyu Yang; Ye Guo; Weiping Yuan; Yao Zou; Yumei Chen; Xiaofan Zhu
Journal:  Int J Hematol       Date:  2016-06-21       Impact factor: 2.490

2.  Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.

Authors:  Natalia S Smetanina; Irina V Mersiyanova; Maria A Kurnikova; Galina S Ovsyannikova; Lili A Hachatryan; Vlasta O Bobrynina; Michael A Maschan; Galina A Novichkova; Jeffrey M Lipton; Alexey A Maschan
Journal:  Pediatr Blood Cancer       Date:  2015-05-06       Impact factor: 3.167

Review 3.  Marrow failure: a window into ribosome biology.

Authors:  Davide Ruggero; Akiko Shimamura
Journal:  Blood       Date:  2014-09-18       Impact factor: 22.113

4.  TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors.

Authors:  Elena Bibikova; Min-Young Youn; Nadia Danilova; Yukako Ono-Uruga; Yoan Konto-Ghiorghi; Rachel Ochoa; Anupama Narla; Bertil Glader; Shuo Lin; Kathleen M Sakamoto
Journal:  Blood       Date:  2014-09-30       Impact factor: 22.113

Review 5.  Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation.

Authors:  Andrew C Dietz; Parinda A Mehta; Adrianna Vlachos; Sharon A Savage; Dorine Bresters; Jakub Tolar; Farid Boulad; Jean Hugues Dalle; Carmem Bonfim; Josu de la Fuente; Christine N Duncan; K Scott Baker; Michael A Pulsipher; Jeffrey M Lipton; John E Wagner; Blanche P Alter
Journal:  Biol Blood Marrow Transplant       Date:  2017-01-20       Impact factor: 5.742

6.  Apoptotic mechanisms during competition of ribosomal protein mutant cells: roles of the initiator caspases Dronc and Dream/Strica.

Authors:  A Kale; W Li; C-H Lee; N E Baker
Journal:  Cell Death Differ       Date:  2015-01-23       Impact factor: 15.828

7.  Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR).

Authors:  Amit Lahoti; Yael T Harris; Phyllis W Speiser; Evangelia Atsidaftos; Jeffrey M Lipton; Adrianna Vlachos
Journal:  Pediatr Blood Cancer       Date:  2015-10-23       Impact factor: 3.167

8.  Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.

Authors:  Katelyn E Gagne; Roxanne Ghazvinian; Daniel Yuan; Rebecca L Zon; Kelsie Storm; Magdalena Mazur-Popinska; Laura Andolina; Halina Bubala; Sydonia Golebiowska; Meghan A Higman; Krzysztof Kalwak; Peter Kurre; Michal Matysiak; Edyta Niewiadomska; Salley Pels; Mary Jane Petruzzi; Aneta Pobudejska-Pieniazek; Tomasz Szczepanski; Mark D Fleming; Hanna T Gazda; Suneet Agarwal
Journal:  Blood       Date:  2014-04-15       Impact factor: 22.113

Review 9.  Inherited bone marrow failure syndromes in adolescents and young adults.

Authors:  David B Wilson; Daniel C Link; Philip J Mason; Monica Bessler
Journal:  Ann Med       Date:  2014-06-03       Impact factor: 4.709

10.  Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.

Authors:  Adrianna Vlachos; Jason E Farrar; Eva Atsidaftos; Ellen Muir; Anupama Narla; Thomas C Markello; Sharon A Singh; Michael Landowski; Hanna T Gazda; Lionel Blanc; Johnson M Liu; Steven R Ellis; Robert J Arceci; Benjamin L Ebert; David M Bodine; Jeffrey M Lipton
Journal:  Blood       Date:  2013-08-13       Impact factor: 22.113
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