BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 36916508)

  • 1. Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.
    Salam MAE; Salama K; Selim YMM; Saad M; Rady R; Alawbathani S; Schroeder S; Elmonem MA; Elkhateeb N
    Ann Hum Genet; 2023 Jul; 87(4):166-173. PubMed ID: 36916508
    [TBL] [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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.
    Cazzola M; Malcovati L
    Hematology Am Soc Hematol Educ Program; 2015; 2015():19-25. PubMed ID: 26637696
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 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. 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]  

  • 12. Congenital sideroblastic anemia: a report of two cases.
    Gupta SK; Rao S; Kar R; Tyagi S; Pati HP
    Indian J Pathol Microbiol; 2009; 52(3):424-6. PubMed ID: 19679982
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
    Wiseman DH; May A; Jolles S; Connor P; Powell C; Heeney MM; Giardina PJ; Klaassen RJ; Chakraborty P; Geraghty MT; Major-Cook N; Kannengiesser C; Thuret I; Thompson AA; Marques L; Hughes S; Bonney DK; Bottomley SS; Fleming MD; Wynn RF
    Blood; 2013 Jul; 122(1):112-23. PubMed ID: 23553769
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Sideroblastic anemia associated with multisystem mitochondrial disorders.
    Tesarova M; Vondrackova A; Stufkova H; Veprekova L; Stranecky V; Berankova K; Hansikova H; Magner M; Galoova N; Honzik T; Vodickova E; Stary J; Zeman J
    Pediatr Blood Cancer; 2019 Apr; 66(4):e27591. PubMed ID: 30588737
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. The phenotypic spectrum of germline
    Riley LG; Heeney MM; Rudinger-Thirion J; Frugier M; Campagna DR; Zhou R; Hale GA; Hilliard LM; Kaplan JA; Kwiatkowski JL; Sieff CA; Steensma DP; Rennings AJ; Simons A; Schaap N; Roodenburg RJ; Kleefstra T; Arenillas L; Fita-Torró J; Ahmed R; Abboud M; Bechara E; Farah R; Tamminga RYJ; Bottomley SS; Sanchez M; Huls G; Swinkels DW; Christodoulou J; Fleming MD
    Haematologica; 2018 Dec; 103(12):2008-2015. PubMed ID: 30026338
    [No Abstract]   [Full Text] [Related]  

  • 18. Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.
    Sharma P; Bhatia P; Singh M; Jamwal M; Pallavelangini S; Das R; Malhotra P; Attri SV; Ducamp S; Fleming MD; Trehan A
    J Mol Diagn; 2024 May; 26(5):430-444. PubMed ID: 38360212
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.
    An W; Zhang J; Chang L; Zhang Y; Wan Y; Ren Y; Niu D; Wu J; Zhu X; Guo Y
    J Hematol Oncol; 2015 May; 8():55. PubMed ID: 25985931
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.