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List of works by Adrianna Vlachos

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

scientific article published on 28 May 2018

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

scientific article

Acquired ribosomopathies in leukemia and solid tumors.

scientific article published in December 2017

Are children with SARS-CoV-2 infection at high risk for thrombosis? Viscoelastic testing and coagulation profiles in a case series of pediatric patients

scientific article published on 01 December 2020

Autologous peripheral blood stem cell transplantation in children with refractory or relapsed lymphoma: results of Children's Oncology Group study A5962.

scientific article

Breast cancer in a case of Shwachman Diamond syndrome ⬇️

scientific article published on December 27, 2011

Capsule endoscopy as a diagnostic tool in the evaluation of graft-vs.-host disease

scientific article published in March 2006

Clinical utility gene card for: Diamond Blackfan anemia

scientific article

Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013 ⬇️

scientific article published on 06 March 2013

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 Internati

scientific article

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

scientific article published on 30 July 2008

Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC)

scientific article

Diamond Blackfan Anemia Treatment: Past, Present, and Future ⬇️

scientific article published on April 1, 2011

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

scientific article published on 26 March 2014

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q− syndrome ⬇️

scientific article published on August 13, 2013

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

scientific article published on 26 February 2021

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

scientific article published on 23 October 2015

Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

scientific article

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

scientific article

Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A

scientific article published on 02 April 2020

How I treat Diamond-Blackfan anemia

scientific article

Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study

scientific article published on 04 April 2019

Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry

scientific article

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

scientific article published on 23 February 2012

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 Registr

scientific article published on 01 May 2018

Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia

scientific article published on 28 September 2018

L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry

scientific article published on 06 October 2020

Late Effects Screening Guidelines after Hematopoietic Cell Transplantation (HCT) for Inherited Bone Marrow Failure Syndromes (IBMFS): Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on La

scientific article

Low incidence of hepatic veno-occlusive disease in pediatric patients undergoing hematopoietic stem cell transplantation attributed to a combination of intravenous heparin, oral glutamine, and ursodiol at a single transplant institution

scientific article published on 30 December 2009

Matched Related vs Alternative Donor Stem Cell Tranplantation (SCT) for Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry

scientific article

Molecular convergence in ex vivo models of Diamond-Blackfan anemia

scientific article published on 4 April 2017

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

scientific article published on 30 June 2013

Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitors

scientific article published on 17 December 2015

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

scientific article published in October 2004

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

article

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

scientific article

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

scientific article

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

scientific article published on November 2011

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

scientific article

Ribosomopathy association with colorectal cancer

scientific article published on 22 November 2014

Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function

scientific article published on 24 December 2011

Shwachman Diamond syndrome-phenotypes and genotypes: when clinical research informs biology

scientific article published on 01 October 2008

Shwachman-Diamond syndrome: report from an international conference

scientific article

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

scientific article published on 30 November 2017

Somatic mutations and clonal hematopoiesis in congenital neutropenia.

scientific article

Steroid resistance in Diamond Blackfan anemia associates with p57Kip2 dysregulation in erythroid progenitors

scientific article published on 01 April 2020

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

scientific article published on 17 October 2008

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

The Genetic Landscape of Diamond-Blackfan Anemia

The Genetic Landscape of Diamond-Blackfan Anemia

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

scientific article

Unsuspected Toxoplasma gondii empyema in a bone marrow transplant recipient

scientific article

Varying Presentations and Favourable Outcomes of COVID-19 Infection in Children and Young Adults with Sickle Cell Disease: An Additional Case Series with Comparisons to Published Cases

scientific article published on 11 July 2020

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