Literature DB >> 23641487

First de novo mutation in RPS19 gene as the cause of hydrops fetalis in Diamond–Blackfan anemia.

Lydie Da Costa1, Genevieve Chanoz-Poulard, Maud Simansour, Martine French, Raymonde Bouvier, Fabienne Prieur, Nathalie Couque, Anne Lise Delezoide, Thierry Leblanc, Narla Mohandas, Renaud Touraine.   

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Year:  2013        PMID： 23641487     DOI： 10.1002/ajh.23429

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


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  7 in total

1.  Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.

Authors:  Neelam Giri; Helen D Reed; Pamela Stratton; Sharon A Savage; Blanche P Alter
Journal:  Pediatr Blood Cancer       Date:  2017-08-12       Impact factor: 3.167

Review 2.  Marrow failure: a window into ribosome biology.

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

3.  Diamond-Blackfan anemia.

Authors:  Lydie M Da Costa; Isabelle Marie; Thierry M Leblanc
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10

Review 4.  Diamond-Blackfan anemia.

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

5.  Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.

Authors:  Marcin W Wlodarski; Lydie Da Costa; Marie-Françoise O'Donohue; Marc Gastou; Narjesse Karboul; Nathalie Montel-Lehry; Ina Hainmann; Dominika Danda; Amina Szvetnik; Victor Pastor; Nahuel Paolini; Franca M di Summa; Hannah Tamary; Abed Abu Quider; Anna Aspesi; Riekelt H Houtkooper; Thierry Leblanc; Charlotte M Niemeyer; Pierre-Emmanuel Gleizes; Alyson W MacInnes
Journal:  Haematologica       Date:  2018-03-29       Impact factor: 9.941

6.  A new murine Rpl5 (uL18) mutation provides a unique model of variably penetrant Diamond-Blackfan anemia.

Authors:  Lei Yu; Philippe Lemay; Alexander Ludlow; Marie-Claude Guyot; Morgan Jones; Fatma F Mohamed; Ghazi-Abdullah Saroya; Christopher Panaretos; Emily Schneider; Yu Wang; Greggory Myers; Rami Khoriaty; Qing Li; Renny Franceschi; James Douglas Engel; Vesa Kaartinen; Thomas L Rothstein; Monica J Justice; Zoha Kibar; Sharon A Singh
Journal:  Blood Adv       Date:  2021-10-26

7.  A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.

Authors:  Anna Aspesi; Marta Betti; Marika Sculco; Chiara Actis; Cristina Olgasi; Marcin W Wlodarski; Adrianna Vlachos; Jeffrey M Lipton; Ugo Ramenghi; Claudio Santoro; Antonia Follenzi; Steven R Ellis; Irma Dianzani
Journal:  Hum Mutat       Date:  2018-05-28       Impact factor: 4.878
  7 in total

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