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Abbreviation : CDA
Long Form : congenital dyserythropoietic anemia
No. Year Title Co-occurring Abbreviation
2019 CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia. XLDAT
2019 Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature. HSCT
2019 KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cells. ATP8A1, GPI, GSR, iPSCs, KLF1
2019 Managing the Unusual Causes of Fetal Anemia. IUT, WG
2019 [New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review]. allo-HSCT
2018 A Case of Congenital Dyserythropoeitic Anemia Type IV Caused by E325K Mutation in Erythroid Transcription Factor KLF1. ---
2018 Clinical and genetic features of congenital dyserythropoietic anemia (CDA). CGH
2018 Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. HA
2018 Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. ---
10  2018 [Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. BDHAP-2014, CHA, CSA, DC, FA, FHL, NGS, Uc
11  2017 Heavy metal levels in patients with ineffective erythropoiesis. TI, TM
12  2016 An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Kruppel-like Factor 1 mutations. Hb, KLF1, MCV
13  2016 Angioid Streaks in Types I and II Congenital Dyserythropoietic Anaemia (CDA). AS, CNV, OCT
14  2015 Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox. ---
15  2015 Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A→G mutation, and pseudo-Gaucher cells in two siblings. HEMPAS
16  2014 Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity. PPHN
17  2013 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. HPFH
18  2013 High levels of soluble serum hemojuvelin in patients with congenital dyserythropoietic anemia type I. GDF15, HJV, HV, s-HJV, sHJV
19  2013 Tissue iron evaluation in chronically transfused children shows significant levels of iron loading at a very young age. DBA, TM
20  2013 [Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey]. ---
21  2012 A case of congenital dyserythropoietic anemia type 1 in a Japanese adult with a CDAN1 gene mutation and an inappropriately low serum hepcidin-25 level. ---
22  2012 Blood group phenotypes resulting from mutations in erythroid transcription factors. GATA1, KLF1, Lu
23  2012 Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves. ---
24  2012 Pulmonary alveolar proteinosis in association with congenital dyserythropoietic anemia: a case report. BAL, CMV, PAP
25  2011 E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. CDA II
26  2011 Growth differentiation factor 15 in patients with congenital dyserythropoietic anaemia (CDA) type II. CDAs, GDF15
27  2010 Epidemiology of rare anaemias in Europe. CHA, DBA, FA, HD, HS, PNH, RA, RBC, SCD
28  2010 Evaluation of eosin-5-maleimide flow cytometric test in diagnosis of hereditary spherocytosis. EMA, HA, HS, MFI
29  2009 Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? CDAII/HEMPAS
30  2009 Remission from transfusion-dependence in a patient with congenital dyserythropoietic anemia (CDA) and increased intensity of iron chelation. ---
31  2008 Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1). ---
32  2008 Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. CDA I, GDF15
33  2007 A new type of transfusion-dependent congenital dyserythropoietic anemia. ---
34  2007 Antioxidant therapy for severe cardiac failure induced by iron overload secondary to dyserythropoietic anaemia. ---
35  2005 Clinical and molecular variability in congenital dyserythropoietic anaemia type I. SNPs
36  2005 Congenital dyserythropoietic anaemia type II-like dysplastic anaemia preceding the development of non-Hodgkin lymphoma--a case report. ---
37  2005 Interferon therapy in congenital dyserythropoietic anemia type I/II. ---
38  2004 A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. ---
39  2004 [Abnormalities of the erythrocyte membrane ultrastructure and the membrane proteins in a patient with HEMPAS, alpha thalassemia and complicated diabetes]. ICSH, SDS-PAGE, TEM
40  2003 Congenital dyserythropoietic anaemia type II (HEMPAS) and haemochromatosis: a report of two cases. ---
41  2003 Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes. ---
42  2003 Congenital dyserythropoietic anemia: clinical and hematological profile. ---
43  2002 Allogeneic bone marrow transplantation: cure for familial Mediterranean fever. BMT, FMF
44  2002 Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults. ---
45  2002 Congenital dyserythropoietic anaemia type II: a case study. ---
46  2002 Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers. HEMPAS
47  2002 Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. BMT
48  2002 New sporadic case of congenital dyserythropoietic anemia type III in an aged woman: detailed description of ultrastructural findings. BM
49  2002 Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation. ATG, SCT
50  2001 The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. CRMO
51  2000 Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn. PPHN
52  2000 Congenital dyserythropoietic anemia type I with ringed sideroblasts. ---
53  2000 Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). CDA-II
54  2000 Interferon alpha is an effective therapy for congenital dyserythropoietic anaemia type I. IFN
55  2000 [Diagnosis and genetics of congenital dyserythropoietic anemias (CDA)]. ---
56  1999 Lethal congenital dyserythropoietic anaemia type I in siblings presenting as pericardial effusions in the second trimester. ---
57  1999 No response to recombinant human erythropoietin therapy in patients with congenital dyserythropoietic anemia type I. rHuEPO
58  1999 The congenital dyserythropoietic anaemias. ---
59  1999 [Elderly dyserythropoietic anemia first diagnosed after presentation of hemorrhagic gastric ulcer]. ---
60  1998 A patient with congenital dyserythropoietic anaemia type III presenting with stillbirths. ---
61  1998 Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data. ---
62  1998 Effects of four species of interferon-alpha on cultured erythroid progenitors from congenital dyserythropoietic anaemia type I. IFN
63  1998 Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3. ---
64  1998 Successful management of concurrent congenital dyserythropoietic anaemia and autoimmune haemolytic anaemia with splenectomy. AIHA, DAT
65  1998 Ultrastructural, cell culture and karyotype study of bone marrow in a patient with congenital dyserythropoietic anaemia (CDA)-type III presenting with recurrent still-births. ---
66  1997 A severe transfusion-dependent congenital dyserythropoietic anaemia presenting as hydrops fetalis. ---
67  1997 Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. ---
68  1997 Reduced interferon-alpha production by Epstein-Barr virus transformed B-lymphoblastoid cell lines and lectin-stimulated lymphocytes in congenital dyserythropoietic anaemia type I. EBV, IFN-alpha
69  1996 Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. BM
70  1996 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-globin chains. HbH
71  1996 Congenital dyserythropoiesis characterized by marked macrocytosis, vitamin B12- and folate-independent megaloblastic change and absence of the defining features of congenital dyserythropoietic anaemia types I or III. ---
72  1996 Limited value of serum holo-transcobalamin II measurements in the differential diagnosis of macrocytosis. Cbl, dU, holo-TCII
73  1996 Malignant lymphoma in congenital dyserythropoietic anaemia type III. ---
74  1995 Acral dysostosis dyserythropoiesis syndrome. ---
75  1995 Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child. CNSHA, G6PD Seattle
76  1995 New variant of congenital dyserythropoietic anemia with trilineage myelodysplasia. ---
77  1994 A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)]. MoAbs, RBCs
78  1994 Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia. CHIP
79  1994 Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs. ---
80  1994 Ultrastructural features in two cases of congenital dyserythropoietic anemia type II. ---
81  1994 [Isolated gonadotropin deficiency and secretory discrepancy of cortisol and adrenal androgen by hemochromatosis secondary to congenital dyserythropoietic anemia]. DHEA
82  1992 A case of congenital dyserythropoietic anemia type II associated with hemochromatosis. ---
83  1992 An unclassified case of congenital dyserythropoietic anaemia with a severe neonatal onset. ---
84  1992 Ultrastructural findings of congenital dyserythropoietic sickle cell beta thal-associated anemia. ---
85  1991 Circulating nucleated red blood cells following splenectomy in a patient with congenital dyserythropoietic anemia. NRBC
86  1991 Usefulness of electron microscopy in the diagnosis of congenital dyserythropoietic anemia type I: report of a case. ---
87  1990 Congenital dyserythropoietic anaemia (CDA) with intrauterine symptoms and early lethal outcome. ---
88  1990 [Morphological studies of erythrocytes in congenital dyserythropoietic anemia type II]. ---
89  1989 Iron loading anaemias. ---
90  1988 5-Aminolaevulinic acid synthase activity in developing human erythroblasts. ALA, PASA
91  1987 Aberrant pattern of red cell membrane and cytosolic proteins in a case of congenital dyserythropoietic anaemia. ---
92  1987 [Atypical congenital dyserythropoietic anemia]. ---
93  1987 [Case report of congenital dyserythropoietic anemia (CDA) type I]. ---
94  1986 A case of congenital dyserythropoietic anemia in a male Chinese. G6PD
95  1986 A variant of the congenital dyserythropoietic anaemia type II with structural abnormalities in the granulocytic series. ---
96  1986 Studies of erythroblast function in congenital dyserythropoietic anaemia, type I: evidence of impaired DNA, RNA, and protein synthesis and unbalanced globin chain synthesis in ultrastructurally abnormal cells. ---
97  1986 Unclassified type of congenital dyserythropoietic anaemia (CDA) with prominent peripheral erythroblastosis. ---
98  1985 Congenital dyserythropoietic anaemia (CDA) type I--a case report with ultrastructural study. ---
99  1985 Severe hemochromatosis: the predominant clinical manifestation of congenital dyserythropoietic anemia type 2. ---
100  1985 Unclassified type of congenital dyserythropoietic anaemia (CDA) with prominent peripheral erythroblastosis. ---