Literature DB >> 31097629

Novel variants in Iranian individuals suspected to have inherited red blood cell disorders, including bone marrow failure syndromes.

Maryam Neishabury1, Maghsood Mehri2, Zohreh Fattahi2, Hossein Najmabadi2, Azita Azarkeivan3.   

Abstract

Entities:  

Mesh：

Year:  2019        PMID： 31097629      PMCID： PMC6939539          DOI： 10.3324/haematol.2019.216069

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  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:  2019-02-07       Impact factor: 11.025

2.  Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.

Authors:  Maghsood Mehri; Maryam Zarin; Fariba Ardalani; Hossein Najmabadi; Azita Azarkeivan; Maryam Neishabury
Journal:  Blood Cells Mol Dis       Date:  2018-02-22       Impact factor: 3.039

3.  Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

Authors:  Michael Y Zhang; Siobán B Keel; Tom Walsh; Ming K Lee; Suleyman Gulsuner; Amanda C Watts; Colin C Pritchard; Stephen J Salipante; Michael R Jeng; Inga Hofmann; David A Williams; Mark D Fleming; Janis L Abkowitz; Mary-Claire King; Akiko Shimamura
Journal:  Haematologica       Date:  2014-09-19       Impact factor: 9.941

4.  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

5.  Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Authors:  María-Isabel Moreno-Carralero; Saul Horta-Herrera; Marta Morado-Arias; María-Pilar Ricard-Andrés; Angelina Lemes-Castellano; Mariola Abio-Calvete; María-Teresa Cedena-Romero; Fernando-Ataulfo González-Fernández; Laura Llorente-González; Adela-María Periago-Peralta; Silvia de-la-Iglesia-Íñigo; Manuel Méndez; María-José Morán-Jiménez
Journal:  Eur J Haematol       Date:  2018-07-27       Impact factor: 2.997

6.  Diamond-Blackfan anemia associated with beta-thalassemia trait.

Authors:  Betül Tavil; Mualla Cetin; Bariş Kuşkonmaz; Fatma Gümrük
Journal:  Am J Hematol       Date:  2006-03       Impact factor: 10.047

7.  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

8.  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

9.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

10.  Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome.

Authors:  Jessica M Schmit; Daniel J Turner; Robert A Hromas; John R Wingard; Randy A Brown; Ying Li; Marilyn M Li; William B Slayton; Christopher R Cogle
Journal:  Leuk Res Rep       Date:  2015-04-03
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