These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 28772256)

  • 1. 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]  

  • 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. 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]  

  • 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. 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]  

  • 6. 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]  

  • 7. [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]  

  • 8. Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.
    Peoc'h K; Nicolas G; Schmitt C; Mirmiran A; Daher R; Lefebvre T; Gouya L; Karim Z; Puy H
    Mol Genet Metab; 2019 Nov; 128(3):190-197. PubMed ID: 30737140
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia.
    Kaneko K; Furuyama K; Fujiwara T; Kobayashi R; Ishida H; Harigae H; Shibahara S
    Haematologica; 2014 Feb; 99(2):252-61. PubMed ID: 23935018
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.
    Camaschella C
    Semin Hematol; 2009 Oct; 46(4):371-7. PubMed ID: 19786205
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.
    Fernández-Murray JP; Prykhozhij SV; Dufay JN; Steele SL; Gaston D; Nasrallah GK; Coombs AJ; Liwski RS; Fernandez CV; Berman JN; McMaster CR
    PLoS Genet; 2016 Jan; 12(1):e1005783. PubMed ID: 26821380
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience.
    Shamsian BS; Jafari MR; Abolghasemi H; Eshghi P; Ehsani MA; Shahgholi E; Kazemi Aghdam M; Latifi A; Jamee M
    Exp Clin Transplant; 2023 Jan; 21(1):70-75. PubMed ID: 36757170
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.
    Kucerova J; Horvathova M; Mojzikova R; Belohlavkova P; Cermak J; Divoky V
    Acta Haematol; 2011; 125(4):193-7. PubMed ID: 21252495
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [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]  

  • 18. 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]  

  • 19. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
    Guernsey DL; Jiang H; Campagna DR; Evans SC; Ferguson M; Kellogg MD; Lachance M; Matsuoka M; Nightingale M; Rideout A; Saint-Amant L; Schmidt PJ; Orr A; Bottomley SS; Fleming MD; Ludman M; Dyack S; Fernandez CV; Samuels ME
    Nat Genet; 2009 Jun; 41(6):651-3. PubMed ID: 19412178
    [TBL] [Abstract][Full Text] [Related]  

  • 20. SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
    Heeney MM; Berhe S; Campagna DR; Oved JH; Kurre P; Shaw PJ; Teo J; Shanap MA; Hassab HM; Glader BE; Shah S; Yoshimi A; Ameri A; Antin JH; Boudreaux J; Briones M; Dickerson KE; Fernandez CV; Farah R; Hasle H; Keel SB; Olson TS; Powers JM; Rose MJ; Shimamura A; Bottomley SS; Fleming MD
    Hum Mutat; 2021 Nov; 42(11):1367-1383. PubMed ID: 34298585
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.