Lista de obras -

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult

artículo científico publicado en 2016

AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B.

artículo científico publicado en 2002

Addressing the diagnostic gaps in pyruvate kinase (PK) deficiency: Consensus recommendations on the diagnosis of PK deficiency

artículo científico publicado en 2018

Adenovirus-associated virus vector-mediated gene transfer in hemophilia B

artículo científico publicado en 2011

Anti-Mur as the most likely cause of mild hemolytic disease of the newborn

artículo científico publicado en 2016

Approach to the bleeding child

artículo científico publicado en 2002

Clinical outcomes of splenectomy in children: report of the splenectomy in congenital hemolytic anemia registry

artículo científico publicado en 2014

Cold agglutinin syndrome in pediatric liver transplant recipients

artículo científico publicado en 2007

Development of antibodies to human thrombin and factor V in a pediatric patient exposed to topical bovine thrombin

artículo científico publicado el 1 de diciembre de 2010

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

artículo científico publicado en 2008

Diagnosis of Pyruvate Kinase Deficiency

artículo científico publicado en 2016

Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase

artículo científico publicado en 2020

Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome

artículo científico publicado en 2016

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

artículo científico publicado en 2012

Erythrocyte pyruvate kinase deficiency: 2015 status report

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis ⬇️

artículo científico publicado el 5 de enero de 2011

Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation

artículo científico publicado en 2018

Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia

artículo científico publicado en 2015

Immune thrombocytopenia in children less than 1 year of age: a single-institution 10-year experience

artículo científico publicado en 2013

In memoriam: Bernard G. Forget

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Loss of Forkhead box M1 promotes erythropoiesis through increased proliferation of erythroid progenitors

artículo científico publicado en 2017

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

artículo científico publicado en 2013

Neonatal hemolysis

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

artículo científico publicado en 2013

Novel protocol including liver biopsy to identify and treat CD8+ T-cell predominant acute hepatitis and liver failure

artículo científico publicado en 2014

One year follow-up of children and adolescents with chronic immune thrombocytopenic purpura (ITP) treated with rituximab

artículo científico publicado en 2009

Point-of-Care Quantitative Measure of Glucose-6-Phosphate Dehydrogenase Enzyme Deficiency

artículo científico publicado en 2015

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

artículo científico publicado en 2018

Prospective phase 1/2 study of rituximab in childhood and adolescent chronic immune thrombocytopenic purpura

artículo científico publicado en 2005

Red Blood Cell Enzyme Disorders.

artículo científico publicado en 2018

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome ⬇️

artículo científico publicado el 25 de julio de 2011

Resolution of severe Donath-Landsteiner autoimmune hemolytic anemia temporally associated with institution of plasmapheresis

artículo científico publicado en 2002

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

artículo científico publicado en 2008

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response

artículo científico publicado en 2006

TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors

artículo científico publicado en 2014

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

The Genetic Landscape of Diamond-Blackfan Anemia

The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

artículo científico publicado en 2018

The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.

artículo científico publicado en 2014

Lista de obras de

A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult

AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B.

Addressing the diagnostic gaps in pyruvate kinase (PK) deficiency: Consensus recommendations on the diagnosis of PK deficiency

Adenovirus-associated virus vector-mediated gene transfer in hemophilia B

Anti-Mur as the most likely cause of mild hemolytic disease of the newborn

Approach to the bleeding child

Clinical outcomes of splenectomy in children: report of the splenectomy in congenital hemolytic anemia registry

Cold agglutinin syndrome in pediatric liver transplant recipients

Development of antibodies to human thrombin and factor V in a pediatric patient exposed to topical bovine thrombin

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

Diagnosis of Pyruvate Kinase Deficiency

Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase

Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia

Erythrocyte pyruvate kinase deficiency: 2015 status report

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

Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis ⬇️

Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype-phenotype correlation

Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia

Immune thrombocytopenia in children less than 1 year of age: a single-institution 10-year experience

In memoriam: Bernard G. Forget

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

Loss of Forkhead box M1 promotes erythropoiesis through increased proliferation of erythroid progenitors

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

Neonatal hemolysis

Neonatal hemolysis

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

Novel protocol including liver biopsy to identify and treat CD8+ T-cell predominant acute hepatitis and liver failure

One year follow-up of children and adolescents with chronic immune thrombocytopenic purpura (ITP) treated with rituximab

Point-of-Care Quantitative Measure of Glucose-6-Phosphate Dehydrogenase Enzyme Deficiency

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

Prospective phase 1/2 study of rituximab in childhood and adolescent chronic immune thrombocytopenic purpura

Red Blood Cell Enzyme Disorders.

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome ⬇️

Resolution of severe Donath-Landsteiner autoimmune hemolytic anemia temporally associated with institution of plasmapheresis

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

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

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

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

Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response

TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors

The Genetic Landscape of Diamond-Blackfan Anemia

The Genetic Landscape of Diamond-Blackfan Anemia

The Genetic Landscape of Diamond-Blackfan Anemia

The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.