Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing
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Hsi-Yuan Huang | Jan-Gowth Chang | Chien-Yu Lin | Ya-Sian Chang | Pei-Chin Lin | Chao-Neng Cheng | Yu-Hsin Tseng
[1] Hsi-Yuan Huang,et al. Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan. , 2018, Clinica chimica acta; international journal of clinical chemistry.
[2] A. Iolascon,et al. Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias , 2018, American journal of hematology.
[3] Abramowicz Anna,et al. Splicing mutations in human genetic disorders: examples, detection, and confirmation , 2018, Journal of Applied Genetics.
[4] Yongwei Wang,et al. Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia. , 2018, Gene.
[5] R. Kushwaha,et al. Congenital Dyserythropoietic Anemia Type I: Report of a Case , 2014, Indian Journal of Hematology and Blood Transfusion.
[6] H. Heimpel,et al. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. , 2013, Blood.
[7] S. Kojima,et al. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia , 2013, International Journal of Hematology.
[8] A. Iolascon,et al. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach , 2012, Haematologica.
[9] A. Brand,et al. A life‐threatening episode of treatment‐resistant haemolysis in a pregnant patient with dyserythropoietic anaemia (CDA) type I , 2012, Transfusion medicine.
[10] A. Iolascon,et al. Congenital dyserythropoietic anemias , 2011, Current opinion in hematology.
[11] H. Tamary,et al. Pregnancy outcome in congenital dyserythropoietic anemia type I , 2008, European journal of haematology.
[12] K. Schwarz,et al. Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene , 2008, Annals of Hematology.
[13] W. Wood,et al. Advances in the understanding of the congenital dyserythropoietic anaemias , 2005, British journal of haematology.
[14] H. Tamary,et al. Clinical and molecular variability in congenital dyserythropoietic anaemia type I , 2005, British journal of haematology.
[15] H. Tamary,et al. A Comprehensive Study of the Neonatal Manifestations of Congenital Dyserythropoietic Anemia Type I , 2004, Journal of pediatric hematology/oncology.
[16] J. Beckmann,et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. , 2002, American journal of human genetics.
[17] M. Ayas,et al. Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation , 2002, Bone Marrow Transplantation.
[18] H. Chambost,et al. Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha‐interferon therapy , 2000, British journal of haematology.
[19] D. Winfield,et al. Transfusion‐dependent congenital dyserythropoietic anaemia with non‐specific dysplastic changes in erythroblasts , 1998, European Journal of Haematology.
[20] H. Tamary,et al. Neonatal manifestations of congenital dyserythropoietic anemia type I. , 1997, The Journal of pediatrics.
[21] H. Tamary,et al. Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. , 1996, Blood.
[22] B. Eyden,et al. Congenital dyserythropoietic anemia in China: a case report from two families and a review , 2013, Annals of Hematology.
[23] K. Nakao,et al. 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. , 2012, Internal medicine.
[24] K. Schwarz,et al. Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. , 2006, Blood.