BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 33256393)

  • 1. Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.
    Andolfo I; Martone S; Ribersani M; Bianchi S; Manna F; Genesio R; Gambale A; Pignataro P; Testi AM; Iolascon A; Russo R
    Haematologica; 2020 Dec; 105(12):2883-2886. PubMed ID: 33256393
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.
    LeBlanc MA; Bettle A; Berman JN; Price VE; Pambrun C; Yu Z; Tiller M; McMaster CR; Fernandez CV
    Pediatr Blood Cancer; 2016 Jul; 63(7):1307-9. PubMed ID: 27038157
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.
    Daniels EG; Alders M; Lezzerini M; McDonald A; Peters M; Kuijpers TW; Lakeman P; Houtkooper RH; MacInnes AW
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31653659
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.
    Woods E; Yates M; Kanani F; Balasubramanian M
    Clin Dysmorphol; 2022 Jul; 31(3):132-135. PubMed ID: 35256563
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. [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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing.
    Kakourou G; Vrettou C; Kattamis A; Destouni A; Poulou M; Moutafi M; Kokkali G; Pantos K; Davies S; Kitsiou-Tzeli S; Kanavakis E; Traeger-Synodinos J
    Syst Biol Reprod Med; 2016; 62(1):69-76. PubMed ID: 26636621
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.
    Furuyama K; Kaneko K
    Int J Hematol; 2018 Jan; 107(1):44-54. PubMed ID: 29139060
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.