Disease: Dyserythropoietic anemia- congenital type 3
- A <em>Krüppel-like factor 1</em> (<em>KLF1</em>) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity
- A case of congenital dyserythropoietic anemia type II, Gilbert's syndrome and malleolar trophic ulcers
- A case of congenital dyserythropoietic anemia type IV
- A dyserythropoietic anemia associated with homozygous Hb Plasencia [alpha125(H8)LeuArg (alpha2)] (HBA2:c.377T>G), a variant with an unstable alpha chain
- A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain
- A Kruppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity
- A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country
- Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene
- Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox
- Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis
- Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations
- CATSPER2, a human autosomal nonsyndromic male infertility gene
- CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis
- Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS)
- Clinical and hematological features of congenital dyserythropoietic anemia type I
- Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults
- Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts
- Composition of the intra-erythroblastic precipitates in thalassaemia and congenital dyserythropoietic anaemia (CDA): identification of a new type of CDA with intra-erythroblastic precipitates not reacting with monoclonal antibodies to alpha- and beta-glob
- Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II
- Congenital disorders involving defective N-glycosylation of proteins
- Congenital dyserthropoietic anaemia other than type I to III with a peculiar erythroblastic morphology
- Congenital dyserythropoiesis type I and alpha-interferon therapy
- Congenital dyserythropoiesis with intererythroblastic chromatin bridges and ultrastructurally-normal erythroblast heterochromatin: a new disorder
- Congenital dyserythropoietic anaemia type II-like dysplastic anaemia preceding the development of non-Hodgkin lymphoma--a case report
- Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1)
- Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data
- Congenital dyserythropoietic anemia
- Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation
- Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn
- Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR)
- Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature
- Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations
- Congenital Dyserythropoietic Anemia Type II With Myelofibrosis in an Adult Patient: A Report of a Rare Case With a Brief Review
- Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects
- Congenital dyserythropoietic anemia--type II (CDA-II) in 3 siblings with long-term follow up and iron overload
- Congenital dyserythropoietic anemia, type 1, in a polynesian patient: response to interferon alpha2b
- Congenital dyserythropoietic anemias
- Congenital Hemolytic Anemias: Is There a Role for the Immune System?
- Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II
- Defective organization of the erythroid cell membrane in a novel case of congenital anemia
- Determinants of iron status and bilirubin levels in congenital dyserythropoietic anaemia type I
- Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene
- Differential tissue specific expression of Kif23 alternative transcripts in mice with the human mutation causing congenital dyserythropoietic anemia type III
- Effects of four species of interferon-alpha on cultured erythroid progenitors from congenital dyserythropoietic anaemia type I
- Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm
- Excess of Pappenheimer bodies (siderocytes) in two splenectomized siblings with congenital dyserythropoietic anemia--type II (CDA-II) and iron overload
- Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II)
- Expression and methylation data from SLE patient and healthy control blood samples subdivided with respect to ARID3a levels
- Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation
- Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
- Favorable effect of splenectomy on anemia in 3 siblings with type II congenital dyserythropoietic anemia (HEMPAS). (Ultrastructural changes in erythrocytes after splenectomy)
- Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II
- Genetic and functional insights into CDA-I prevalence and pathogenesis
- Genetic heterogeneity of congenital dyserythropoietic anemia type I
- Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer
- Glycoconjugate abnormalities in patients with congenital dyserythropoietic anaemia type I, II and III
- Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated
- Golgi alpha-mannosidase II deficiency in vertebrate systems: implications for asparagine-linked oligosaccharide processing in mammals
- Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium
- HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test
- Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers
- Hypocholesterolemia in chronic anemias with increased erythropoietic activity
- Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia
- Ineffective erythropoiesis underlies the clinical heterogeneity of congenital dyserythropoietic anemia type II (CDA II)
- Interferon alpha is an effective therapy for congenital dyserythropoietic anaemia type I
- Interferon therapy in congenital dyserythropoietic anemia type I/II
- Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3
- Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3
- Managing the Unusual Causes of Fetal Anemia
- Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene
- New mutation site of SEC23B gene in type congenital erythrocythememia anemia: one case report and literatures review
- New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review
- Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging
- Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS)
- Plucking, pillaging and plundering proteomes with combinatorial peptide ligand libraries
- Possible oxidative stress involvement in congenital dyserythropoietic anemia type 1
- Pregnancy outcome in congenital dyserythropoietic anemia type I
- Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1)
- RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway
- Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia
- Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores
- SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells
- Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
- Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy
- Short report: erythrocyte membranes from a patient with congenital dyserythropoietic anaemia type I (CDA-I) show identical, although less pronounced, glycoconjugate abnormalities to those from patients with CDA-II (HEMPAS)
- Sleep disruption and objective sleepiness in children with beta-thalassemia and congenital dyserythropoietic anemia
- Soluble transferrin receptor as a potential determinant of iron loading in congenital anaemias due to ineffective erythropoiesis
- Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child
- Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a
- Successful treatment of iron overload with phlebotomies in two siblings with congenital dyserythropoietic anemia--type II (CDA-II)
- Suppression of CDA II expression in a homozygote
- Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias
- The congenital dyserythropoieitic anemias: genetics and pathophysiology
- The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I
- Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a
- Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population
- Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload
- Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias
- Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis
- Zebrafish erythropoiesis and the utility of fish as models of anemia