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Journal Articles

Diamond-Blackfan anemia

Lydie Da Costa, Thierry Leblanc, Narla Mohandas

Blood (2020) 136 (11): 1262–1273.

https://doi.org/10.1182/blood.2019000947

Published: 2020

Journal Articles

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Neelam Giri, MD, Matthew Gianferante, MD, Evangelia Atsidaftos, MA, MPH, Marcin W. Wlodarski, MD PhD, Paola Quarello, MD, Jana Volejnikova, MD, Polyxeni Delaporta, MD, Vijay G. Sankaran, MD PhD, Jason E. Farrar, MD, Maryam Hussain, MPH, Lisa J. McReynolds, MD PhD, Antonis Kattamis, Jeffrey M Lipton, MD PhD, Charlotte Niemeyer, MD, Dagmar Pospisilova, MD PhD, Ugo Ramenghi, MD, Sharon A. Savage, MD, Adrianna Vlachos, MD, Blanche P. Alter, MD MPH

Blood (2018) 132 (Supplement 1): 3854.

https://doi.org/10.1182/blood-2018-99-117171

Published: 2018

Journal Articles

Whole Genome Sequencing to Detect Small Deletions in Ribosomal Protein Genes in Diamond Blackfan Anemia Patients

Jens Lichtenberg, Jason E. Farrar, MD, David Chelimo, Frederick Horne, NISC Comparative Sequencing Program, Steven Ellis, PhD, Adrianna Vlachos, MD, Jeffrey H. Lipton, PhD MD FRCPC, David M. Bodine, PhD

Blood (2017) 130 (Supplement 1): 1174.

https://doi.org/10.1182/blood.V130.Suppl_1.1174.1174

Published: 2017

Journal Articles

Nucleolin Controls Ribosome Biogenesis through Its RNA-Binding Properties

Julia Fremerey, PhD, Pavel Morozov, PhD, Cindy Meyer, PhD, Aitor Garzia, PhD, Marianna Teplova, PhD, Thomas Tuschl, PhD, Arndt Borkhardt, MD

Blood (2016) 128 (22): 5056.

https://doi.org/10.1182/blood.V128.22.5056.5056

Published: 2016

Journal Articles

In Vitro Analysis of Erythroid Cells Derived from the Culture of Diamond Blackfan Anemia Patient CD34+ Cells

Kelly A O'Brien, PhD, Stacie M Anderson, Jason Farrar, MD, Adrianna Vlachos, MD, Eva Atsidaftos, Jeffrey Michael Lipton, MD PhD, Steven R Ellis, PhD, David M. Bodine, PhD

Blood (2014) 124 (21): 744.

https://doi.org/10.1182/blood.V124.21.744.744

Published: 2014

Journal Articles

RPL27A Is a Target for Mir-595 and Contributes to Myelodysplastic Phenotype through Ribosomal Dysgenesis

Heba A Alkhatabi, MSc, Joop Gaken, PhD, Austin Kulasekararaj, Shengjiang Tan, PhD, Farooq Malik, BSc, PhD, Alan John Warren, PhD FRCP, FRCPath, FMedSci, Thomas Seidl, David C Darling, PhD, Ghulam Mufti, MD DM, FRCP, FRCPath

Blood (2014) 124 (21): 1895.

https://doi.org/10.1182/blood.V124.21.1895.1895

Published: 2014

Journal Articles

Linking Defective Ribosome Maturation to Shwachman-Diamond Syndrome

Alan John Warren, PhD, FRCP, FRCPath, FMedSci

Blood (2013) 122 (21): SCI-36.

https://doi.org/10.1182/blood.V122.21.SCI-36.SCI-36

Published: 2013

Journal Articles

Insights Into Diagnosis and Etiology of Diamond Blackfan Anemia by Analysis of Pre-rRNA Processing

Ross Fisher, MD, Adrianna Henson, Paola Quarello, MD, Anna Aspesi, PhD, Jason E Farrar, MD, Robert J. Arceci, MD, PhD, David M. Bodine, PhD, Irma Dianzani, MD PhD, Jeffrey M. Lipton, MD, PhD, Ugo Ramenghi, MD, Adrianna Vlachos, MD, Steven R Ellis, PhD

Blood (2012) 120 (21): 3476.

https://doi.org/10.1182/blood.V120.21.3476.3476

Published: 2012

Journal Articles

Phenotype / Genotype Correlations in Diamond-Blackfan Anaemia – An Update From the Czech National DBA Registry

Dagmar Pospisilova, Jana Cmejlova, Jan Stary, M.D., Zdena Cerna, Jiri Hak, Radek Cmejla, PhD, Barbora Ludikova

Blood (2011) 118 (21): 5269.

https://doi.org/10.1182/blood.V118.21.5269.5269

Published: 2011

Journal Articles

Differential Down-Regulation of RPL35a in Human Bone Marrow Progenitors Demonstrates a p53 Independent Mechanism Mediating the Diamond Blackfan Anemia Phenotype.

Emi Caywood, M.D., Jason E. Farrar, MD, Jeffrey Michael Lipton, MD, PhD, Robert J. Arceci, MD, PhD

Blood (2009) 114 (22): 1096.

https://doi.org/10.1182/blood.V114.22.1096.1096

Published: 2009

Journal Articles

Mutations in Ribosomal Protein Genes of Diamond-Blackfan Anemia Patients in Japan.

Yuki Konno, MD, Tsutomu Toki, PhD, Satoru Tandai, MD, PhD, Gang Xu, MD, PhD, Kiminori Terui, MD, PhD, Shouichi Ohga, MD, PhD, Seiji Kojima, MD, PhD, Ryu Yanagisawa, MD, PhD, Kenichi Koike, MD, PhD, Daiichiro Hasegawa, MD.PhD, Yoshiyuki Kosaka, MD.PhD, Rie Kanei, MD.PhD, Tsuyoshi Imai, MD, PhD, Teruaki Hongo, MD, PhD, Myoung-Ja Park, MD.PhD, Arata Watanabe, MD, PhD, Etsuro Ito, MD, PhD

Blood (2009) 114 (22): 3204.

https://doi.org/10.1182/blood.V114.22.3204.3204

Published: 2009

Journal Articles

The Frequency and Characteristics of the Ribosomal Protein L5 (RPL5) and Ribosomal Protein L11 (RPL11) Gene Mutations in Patients with Diamond-Blackfan Anemia in the Czech National Registry

Dagmar Pospisilova, MD, Radek Cmejla, PhD, Jana Cmejlova, PhD, Helena Handrkova, Jan Stary, MD, PhD, Zdenka Cerna, MD

Blood (2008) 112 (11): 3103.

https://doi.org/10.1182/blood.V112.11.3103.3103

Published: 2008

Journal Articles

Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations

Blood (2008) 112 (11): 39.

https://doi.org/10.1182/blood.V112.11.39.39

Published: 2008

Journal Articles

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

Blood (2008) 112 (5): 1582–1592.

https://doi.org/10.1182/blood-2008-02-140012

Published: 2008

Includes: Supplemental data

Journal Articles

A Large Ribosomal Subunit Protein Abnormality in Diamond-Blackfan Anemia (DBA).

Blood (2007) 110 (11): 422.

https://doi.org/10.1182/blood.V110.11.422.422

Published: 2007

NARROW

Diamond-Blackfan anemia

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Whole Genome Sequencing to Detect Small Deletions in Ribosomal Protein Genes in Diamond Blackfan Anemia Patients

Nucleolin Controls Ribosome Biogenesis through Its RNA-Binding Properties

In Vitro Analysis of Erythroid Cells Derived from the Culture of Diamond Blackfan Anemia Patient CD34+ Cells

RPL27A Is a Target for Mir-595 and Contributes to Myelodysplastic Phenotype through Ribosomal Dysgenesis

Linking Defective Ribosome Maturation to Shwachman-Diamond Syndrome

Insights Into Diagnosis and Etiology of Diamond Blackfan Anemia by Analysis of Pre-rRNA Processing

Phenotype / Genotype Correlations in Diamond-Blackfan Anaemia – An Update From the Czech National DBA Registry

Differential Down-Regulation of RPL35a in Human Bone Marrow Progenitors Demonstrates a p53 Independent Mechanism Mediating the Diamond Blackfan Anemia Phenotype.

Mutations in Ribosomal Protein Genes of Diamond-Blackfan Anemia Patients in Japan.

The Frequency and Characteristics of the Ribosomal Protein L5 (RPL5) and Ribosomal Protein L11 (RPL11) Gene Mutations in Patients with Diamond-Blackfan Anemia in the Czech National Registry

Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations

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

A Large Ribosomal Subunit Protein Abnormality in Diamond-Blackfan Anemia (DBA).

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American Society of Hematology

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American Society of Hematology

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