BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

305 related articles for article (PubMed ID: 23400930)

  • 1. Induced pluripotent stem cells with a mitochondrial DNA deletion.
    Cherry AB; Gagne KE; McLoughlin EM; Baccei A; Gorman B; Hartung O; Miller JD; Zhang J; Zon RL; Ince TA; Neufeld EJ; Lerou PH; Fleming MD; Daley GQ; Agarwal S
    Stem Cells; 2013 Jul; 31(7):1287-97. PubMed ID: 23400930
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure.
    Falcon CP; Howard TH
    Blood; 2017 May; 129(19):2710. PubMed ID: 28495927
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. Pearson syndrome.
    Farruggia P; Di Marco F; Dufour C
    Expert Rev Hematol; 2018 Mar; 11(3):239-246. PubMed ID: 29337599
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pearson syndrome in a Diamond-Blackfan anemia cohort.
    Alter BP
    Blood; 2014 Jul; 124(3):312-3. PubMed ID: 25035146
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mitochondrial DNA with a large-scale deletion causes two distinct mitochondrial disease phenotypes in mice.
    Katada S; Mito T; Ogasawara E; Hayashi J; Nakada K
    G3 (Bethesda); 2013 Sep; 3(9):1545-52. PubMed ID: 23853091
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.
    Gagne KE; Ghazvinian R; Yuan D; Zon RL; Storm K; Mazur-Popinska M; Andolina L; Bubala H; Golebiowska S; Higman MA; Kalwak K; Kurre P; Matysiak M; Niewiadomska E; Pels S; Petruzzi MJ; Pobudejska-Pieniazek A; Szczepanski T; Fleming MD; Gazda HT; Agarwal S
    Blood; 2014 Jul; 124(3):437-40. PubMed ID: 24735966
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
    Gustafson MA; McCormick EM; Perera L; Longley MJ; Bai R; Kong J; Dulik M; Shen L; Goldstein AC; McCormack SE; Laskin BL; Leroy BP; Ortiz-Gonzalez XR; Ellington MG; Copeland WC; Falk MJ
    PLoS One; 2019; 14(9):e0221829. PubMed ID: 31479473
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression.
    Chen XY; Zhao SY; Wang Y; Wang D; Dong CH; Yang Y; Wang ZH; Wu YM
    Mitochondrial DNA A DNA Mapp Seq Anal; 2016 Jul; 27(4):2492-5. PubMed ID: 26016877
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: a case report.
    Park J; Ryu H; Jang W; Chae H; Kim M; Kim Y; Kim J; Lee JW; Chung NG; Cho B; Suh BK
    Mol Med Rep; 2015 May; 11(5):3741-5. PubMed ID: 25543536
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Metabolic rescue in pluripotent cells from patients with mtDNA disease.
    Ma H; Folmes CD; Wu J; Morey R; Mora-Castilla S; Ocampo A; Ma L; Poulton J; Wang X; Ahmed R; Kang E; Lee Y; Hayama T; Li Y; Van Dyken C; Gutierrez NM; Tippner-Hedges R; Koski A; Mitalipov N; Amato P; Wolf DP; Huang T; Terzic A; Laurent LC; Izpisua Belmonte JC; Mitalipov S
    Nature; 2015 Aug; 524(7564):234-8. PubMed ID: 26176921
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.
    Sato T; Muroya K; Hanakawa J; Iwano R; Asakura Y; Tanaka Y; Murayama K; Ohtake A; Hasegawa T; Adachi M
    Eur J Pediatr; 2015 Dec; 174(12):1593-602. PubMed ID: 26074369
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical manifestations and management of four children with Pearson syndrome.
    Tumino M; Meli C; Farruggia P; La Spina M; Faraci M; Castana C; Di Raimondo V; Alfano M; Pittalà A; Lo Nigro L; Russo G; Di Cataldo A
    Am J Med Genet A; 2011 Dec; 155A(12):3063-6. PubMed ID: 22012855
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
    Wild KT; Goldstein AC; Muraresku C; Ganetzky RD
    Am J Med Genet A; 2020 Feb; 182(2):365-373. PubMed ID: 31825167
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature.
    Tadiotto E; Maines E; Degani D; Balter R; Bordugo A; Cesaro S
    Pediatr Blood Cancer; 2018 Apr; 65(4):. PubMed ID: 29286581
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.
    Sabella-Jiménez V; Otero-Herrera C; Silvera-Redondo C; Garavito-Galofre P
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1509. PubMed ID: 33030289
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Induced pluripotent stem cell-derived models for mtDNA diseases.
    Hämäläinen RH
    Methods Enzymol; 2014; 547():399-415. PubMed ID: 25416367
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
    Schiff M; Mohsen AW; Karunanidhi A; McCracken E; Yeasted R; Vockley J
    Mol Genet Metab; 2013 May; 109(1):21-7. PubMed ID: 23480858
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS.
    Folmes CD; Martinez-Fernandez A; Perales-Clemente E; Li X; McDonald A; Oglesbee D; Hrstka SC; Perez-Terzic C; Terzic A; Nelson TJ
    Stem Cells; 2013 Jul; 31(7):1298-308. PubMed ID: 23553816
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Somatic cells with a heavy mitochondrial DNA mutational load render induced pluripotent stem cells with distinct differentiation defects.
    Wahlestedt M; Ameur A; Moraghebi R; Norddahl GL; Sten G; Woods NB; Bryder D
    Stem Cells; 2014 May; 32(5):1173-82. PubMed ID: 24446123
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.