178 related articles for article (PubMed ID: 25912935)
1. Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene.
Demircioğlu F; Erkoçoğlu M; Dilek M; Bekdaş M; Göksügür S; Büyükkorkmaz S; Açar S
Turk J Haematol; 2015 Sep; 32(3):283-4. PubMed ID: 25912935
[No Abstract] [Full Text] [Related]
2. Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.
Sharma P; Das R; Bansal D; Trehan A
Hematology; 2015 Mar; 20(2):104-7. PubMed ID: 24801240
[TBL] [Abstract][Full Text] [Related]
3. Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.
Chen S; Guo Z; Ye Y; Yang S; Huang G
Int J Hematol; 2021 Sep; 114(3):390-394. PubMed ID: 33914262
[TBL] [Abstract][Full Text] [Related]
4. 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.
Zheng J; Gao L; Liu H; Xiao P; Lu J; Li J; Wu S; Cheng S; Bian X; Du Z; Kong L; Hu S; Fan J
Int J Hematol; 2024 Feb; 119(2):210-214. PubMed ID: 38127226
[TBL] [Abstract][Full Text] [Related]
5. Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.
Iolascon A; Russo R; Esposito MR; Asci R; Piscopo C; Perrotta S; Fénéant-Thibault M; Garçon L; Delaunay J
Haematologica; 2010 May; 95(5):708-15. PubMed ID: 20015893
[TBL] [Abstract][Full Text] [Related]
6. Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Punzo F; Bertoli-Avella AM; Scianguetta S; Della Ragione F; Casale M; Ronzoni L; Cappellini MD; Forni G; Oostra BA; Perrotta S
Orphanet J Rare Dis; 2011 Dec; 6():89. PubMed ID: 22208203
[TBL] [Abstract][Full Text] [Related]
7. E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II.
Amir A; Dgany O; Krasnov T; Resnitzky P; Mor-Cohen R; Bennett M; Berrebi A; Tamary H
Acta Haematol; 2011; 125(4):202-7. PubMed ID: 21252497
[TBL] [Abstract][Full Text] [Related]
8. Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.
Kedar P; Parmar V; Devendra R; Gupta V; Warang P; Madkaikar M
Ann Hematol; 2017 Dec; 96(12):2135-2139. PubMed ID: 28879554
[No Abstract] [Full Text] [Related]
9.
Alam MJ; Mandal AK; Mandal S; Jana JK
BMJ Case Rep; 2022 Jul; 15(7):. PubMed ID: 35820731
[TBL] [Abstract][Full Text] [Related]
10. 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.
Aydin Koker S; Karapinar TH; Oymak Y; Bianchi P; Fermo E; Gozmen S; Vergin C
J Pediatr Hematol Oncol; 2018 Oct; 40(7):e421-e423. PubMed ID: 29846281
[TBL] [Abstract][Full Text] [Related]
11. New Cases and Mutations in
Musri MM; Venturi V; Ferrer-Cortès X; Romero-Cortadellas L; Hernández G; Leoz P; Ricard Andrés MP; Morado M; Fernández Valle MDC; Beneitez Pastor D; Ortuño Cabrero A; Moreno Gamiz M; Senent Peris L; Perez-Valencia AI; Pérez-Montero S; Tornador C; Sánchez M
Int J Mol Sci; 2023 Jun; 24(12):. PubMed ID: 37373084
[TBL] [Abstract][Full Text] [Related]
12. [Congenital dyserythropoietic anemia type II: a case report and literature review].
Li Y; Zhao X; Zhou K; Li Y; Li JP; Ye L; Peng GX; Fan HH; Jing LP; Zhang L; Zhang FK
Zhonghua Xue Ye Xue Za Zhi; 2012 Apr; 33(4):270-3. PubMed ID: 22781715
[TBL] [Abstract][Full Text] [Related]
13. Neonatal manifestations of congenital dyserythropoietic anemia type I.
Shalev H; Tamary H; Shaft D; Reznitsky P; Zaizov R
J Pediatr; 1997 Jul; 131(1 Pt 1):95-7. PubMed ID: 9255198
[TBL] [Abstract][Full Text] [Related]
14. A novel variant mutation for congenital dyserythropoietic anemia, type II.
Song JY; Pawar A; Collins C
Blood Cells Mol Dis; 2014 Dec; 53(4):272-3. PubMed ID: 24801741
[No Abstract] [Full Text] [Related]
15. Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.
Singleton B; Bansal D; Varma N; Das R; Naseem S; Saikia UN; Malhotra P; Varma S; Marwaha RK; King MJ; Ahmed M
Clin Genet; 2015 Aug; 88(2):195-7. PubMed ID: 25418799
[No Abstract] [Full Text] [Related]
16. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K; Iolascon A; Verissimo F; Trede NS; Horsley W; Chen W; Paw BH; Hopfner KP; Holzmann K; Russo R; Esposito MR; Spano D; De Falco L; Heinrich K; Joggerst B; Rojewski MT; Perrotta S; Denecke J; Pannicke U; Delaunay J; Pepperkok R; Heimpel H
Nat Genet; 2009 Aug; 41(8):936-40. PubMed ID: 19561605
[TBL] [Abstract][Full Text] [Related]
17. RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.
De Rosa G; Andolfo I; Marra R; Manna F; Rosato BE; Iolascon A; Russo R
Int J Mol Sci; 2020 Aug; 21(15):. PubMed ID: 32759740
[TBL] [Abstract][Full Text] [Related]
18. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.
Fujino H; Doisaki S; Park YD; Hama A; Muramatsu H; Kojima S; Sumimoto S
Int J Hematol; 2013 May; 97(5):650-3. PubMed ID: 23605369
[TBL] [Abstract][Full Text] [Related]
19. Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.
Russo R; Langella C; Esposito MR; Gambale A; Vitiello F; Vallefuoco F; Ek T; Yang E; Iolascon A
Blood Cells Mol Dis; 2013 Jun; 51(1):17-21. PubMed ID: 23453696
[TBL] [Abstract][Full Text] [Related]
20. [54-year-old patient with anemia, jaundice, hepatosplenomegaly and paravertebral space-occupying lesions].
Denzlinger C; Humann M; Steiner W; Bader J; Greither L; Günther W; Reisbach G; Munker R; Baumgart R; Leeping M
Internist (Berl); 1995 Jul; 36(7):726-9. PubMed ID: 7672922
[No Abstract] [Full Text] [Related]
[Next] [New Search]
