Literature DB >> 29748317

Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry.

Adrianna Vlachos1,2, Diana S Osorio3,2,4, Evangelia Atsidaftos3,2, Jessica Kang3,5, Mohammad Lutfi Lababidi3, Howard S Seiden6,7, Dorota Gruber3,6, Bertil E Glader8, Kenan Onel3,2,9, Jason E Farrar10, David M Bodine5, Anna Aspesi11, Irma Dianzani11, Ugo Ramenghi12, Steven R Ellis13,14, Jeffrey M Lipton3,2.   

Abstract

Entities:  

Keywords:  anemia, Diamond Blackfan; child; human genetics; humans; mutation

Mesh：

Year:  2018        PMID： 29748317      PMCID： PMC5951415          DOI： 10.1161/CIRCGENETICS.117.002044

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  5 in total

1.  Inherited thrombocytopenia and Occam's razor.

Authors:  Jeffrey M Lipton
Journal:  Blood       Date:  2017-08-17       Impact factor: 22.113

2.  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

3.  Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005.

Authors:  Mark D Reller; Matthew J Strickland; Tiffany Riehle-Colarusso; William T Mahle; Adolfo Correa
Journal:  J Pediatr       Date:  2008-07-26       Impact factor: 4.406

Review 4.  Diamond Blackfan anemia: a model for the translational approach to understanding human disease.

Authors:  Adrianna Vlachos; Lionel Blanc; Jeffrey M Lipton
Journal:  Expert Rev Hematol       Date:  2014-03-26       Impact factor: 2.929

Review 5.  Genetics of congenital heart disease: the glass half empty.

Authors:  Akl C Fahed; Bruce D Gelb; J G Seidman; Christine E Seidman
Journal:  Circ Res       Date:  2013-02-15       Impact factor: 17.367
  5 in total
  15 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

2.  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 3.  Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.

Authors:  Emma M Groarke; Neal S Young; Katherine R Calvo
Journal:  Best Pract Res Clin Haematol       Date:  2021-06-02       Impact factor: 3.670

Review 4.  Ribosomopathies: Old Concepts, New Controversies.

Authors:  Katherine I Farley-Barnes; Lisa M Ogawa; Susan J Baserga
Journal:  Trends Genet       Date:  2019-07-31       Impact factor: 11.639

Review 5.  Diamond-Blackfan anemia.

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

6.  Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.

Authors:  Kris Gevaert; Christine Seidman; J G Seidman; Tarsha Ward; Warren Tai; Sarah Morton; Francis Impens; Petra Van Damme; Delphi Van Haver; Evy Timmerman; Gabriela Venturini; Kehan Zhang; Min Young Jang; Jon A L Willcox; Alireza Haghighi; Bruce D Gelb; Wendy K Chung; Elizabeth Goldmuntz; George A Porter; Richard P Lifton; Martina Brueckner; H Joseph Yost; Benoit G Bruneau; Joshua Gorham; Yuri Kim; Alexandre Pereira; Jason Homsy; Craig C Benson; Steven R DePalma; Sylvia Varland; Christopher S Chen; Thomas Arnesen
Journal:  Circ Res       Date:  2021-02-09       Impact factor: 17.367

7.  A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease.

Authors:  Hieu T Nim; Louis Dang; Harshini Thiyagarajah; Daniel Bakopoulos; Michael See; Natalie Charitakis; Tennille Sibbritt; Michael P Eichenlaub; Stuart K Archer; Nicolas Fossat; Richard E Burke; Patrick P L Tam; Coral G Warr; Travis K Johnson; Mirana Ramialison
Journal:  Genome Biol       Date:  2021-12-15       Impact factor: 13.583

8.  Dental considerations in a paediatric patient with Diamond-Blackfan anaemia.

Authors:  Imam Azam; Morankar Rahul; Nitesh Tewari; Kalpana Bansal
Journal:  BMJ Case Rep       Date:  2020-09-14

9.  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

Review 10.  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
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