199 related articles for article (PubMed ID: 31338833)
1. Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C; Le Rouzic MA; Leblanc T; Fouyssac F; Leverger G; Hessissen L; Marlin S; Bourrat E; Fahd M; Raffoux E; Vannier JP; Jäkel N; Knoefler R; Triolo V; Pasquet M; Bayart S; Thuret I; Lutz P; Vermylen C; Touati M; Rose C; Matthes T; Isidor B; Kannengiesser C; Ducassou S
Br J Haematol; 2019 Nov; 187(4):530-542. PubMed ID: 31338833
[TBL] [Abstract][Full Text] [Related]
2. Novel frameshift variant (c.409dupG) in
Ravindra N; Athiyarath R; S E; S S; Kulkarni U; N A F; Korula A; Shaji RV; George B; Edison ES
J Clin Pathol; 2021 Mar; 74(3):157-162. PubMed ID: 32605921
[TBL] [Abstract][Full Text] [Related]
3. Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Le Rouzic MA; Fouquet C; Leblanc T; Touati M; Fouyssac F; Vermylen C; Jäkel N; Guichard JF; Maloum K; Toutain F; Lutz P; Perel Y; Manceau H; Kannengiesser C; Vannier JP
Blood Cells Mol Dis; 2017 Jul; 66():11-18. PubMed ID: 28772256
[TBL] [Abstract][Full Text] [Related]
4. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
Bergmann AK; Campagna DR; McLoughlin EM; Agarwal S; Fleming MD; Bottomley SS; Neufeld EJ
Pediatr Blood Cancer; 2010 Feb; 54(2):273-8. PubMed ID: 19731322
[TBL] [Abstract][Full Text] [Related]
5. Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.
Fujiwara T; Harigae H
Free Radic Biol Med; 2019 Mar; 133():179-185. PubMed ID: 30098397
[TBL] [Abstract][Full Text] [Related]
6. X-linked sideroblastic anaemia due to ALAS₂ mutations in the Netherlands: a disease in disguise.
Donker AE; Raymakers RA; Nieuwenhuis HK; Coenen MJ; Janssen MC; MacKenzie MA; Brons PP; Swinkels DW
Neth J Med; 2014 May; 72(4):210-7. PubMed ID: 24829177
[TBL] [Abstract][Full Text] [Related]
7. Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.
Uminski K; Houston DS; Hartley JN; Liu J; Cuvelier GDE; Israels SJ
Pediatr Blood Cancer; 2020 Oct; 67(10):e28623. PubMed ID: 32790119
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).
Ohba R; Furuyama K; Yoshida K; Fujiwara T; Fukuhara N; Onishi Y; Manabe A; Ito E; Ozawa K; Kojima S; Ogawa S; Harigae H
Ann Hematol; 2013 Jan; 92(1):1-9. PubMed ID: 22983749
[TBL] [Abstract][Full Text] [Related]
9. Pathophysiology and genetic mutations in congenital sideroblastic anemia.
Fujiwara T; Harigae H
Pediatr Int; 2013 Dec; 55(6):675-9. PubMed ID: 24003969
[TBL] [Abstract][Full Text] [Related]
10. Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.
Mehri M; Zarin M; Ardalani F; Najmabadi H; Azarkeivan A; Neishabury M
Blood Cells Mol Dis; 2018 Jul; 71():39-44. PubMed ID: 29499877
[TBL] [Abstract][Full Text] [Related]
11. Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.
Rose C; Callebaut I; Pascal L; Oudin C; Fournier M; Gouya L; Lambilliotte A; Kannengiesser C
Br J Haematol; 2017 Aug; 178(4):648-651. PubMed ID: 27292130
[No Abstract] [Full Text] [Related]
12. [Clinical features and gene mutation spectrum in children with sideroblastic anemia].
An WB; An WB; Liu C; Wan Y; Guo Y; Wang SC; Zhang YC; Zhu XF
Zhongguo Dang Dai Er Ke Za Zhi; 2019 Oct; 21(10):1016-1021. PubMed ID: 31642437
[TBL] [Abstract][Full Text] [Related]
13. Recent advances in the understanding of inherited sideroblastic anaemia.
Camaschella C
Br J Haematol; 2008 Oct; 143(1):27-38. PubMed ID: 18637800
[TBL] [Abstract][Full Text] [Related]
14. [Congenital sideroblastic anemia-a new family with identification of K156E mutation of ALAS2 gene and literature review].
Cui R; Xu Z; Qin T; Zhang Y; Xiao Z
Zhonghua Xue Ye Xue Za Zhi; 2014 Feb; 35(2):142-6. PubMed ID: 24606657
[TBL] [Abstract][Full Text] [Related]
15. GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.
Daher R; Mansouri A; Martelli A; Bayart S; Manceau H; Callebaut I; Moulouel B; Gouya L; Puy H; Kannengiesser C; Karim Z
Mol Genet Metab; 2019 Nov; 128(3):342-351. PubMed ID: 30660387
[TBL] [Abstract][Full Text] [Related]
16. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C; Sanchez M; Sweeney M; Hetet G; Kerr B; Moran E; Fuster Soler JL; Maloum K; Matthes T; Oudot C; Lascaux A; Pondarré C; Sevilla Navarro J; Vidyatilake S; Beaumont C; Grandchamp B; May A
Haematologica; 2011 Jun; 96(6):808-13. PubMed ID: 21393332
[TBL] [Abstract][Full Text] [Related]
17. Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.
Lee PL; Barton JC; Rao SV; Acton RT; Adler BK; Beutler E
Blood Cells Mol Dis; 2006; 36(2):292-7. PubMed ID: 16446107
[TBL] [Abstract][Full Text] [Related]
18. Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38.
Wong WS; Wong HF; Cheng CK; Chang KO; Chan NP; Ng MH; Wong KF
J Clin Pathol; 2015 Mar; 68(3):249-51. PubMed ID: 25512395
[No Abstract] [Full Text] [Related]
19. X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.
Nzelu D; Shangaris P; Story L; Smith F; Piyasena C; Alamelu J; Elmakky A; Pelidis M; Mayhew R; Sankaran S
BMC Med Genomics; 2021 Dec; 14(1):296. PubMed ID: 34930268
[TBL] [Abstract][Full Text] [Related]
20. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Campagna DR; de Bie CI; Schmitz-Abe K; Sweeney M; Sendamarai AK; Schmidt PJ; Heeney MM; Yntema HG; Kannengiesser C; Grandchamp B; Niemeyer CM; Knoers NV; Swart S; Marron G; van Wijk R; Raymakers RA; May A; Markianos K; Bottomley SS; Swinkels DW; Fleming MD
Am J Hematol; 2014 Mar; 89(3):315-9. PubMed ID: 24166784
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]