BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 36952636)

  • 1. The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
    Hakkarainen M; Kaaja I; Douglas SPM; Vulliamy T; Dokal I; Soulier J; Larcher L; Peffault de Latour R; Leblanc T; Sicre de Fontbrune F; Siitonen T; Lohi O; Hellström-Lindberg E; Barbany G; Tesi B; Shimamura A; Beier F; Jackson S; Kuperman AA; Falik Zaccai T; Tamary H; Mecucci C; Capolsini I; Jahnukainen K; Salmenniemi U; Niinimäki R; Varilo T; Kilpivaara O; Wartiovaara-Kautto U
    Blood; 2023 Jun; 141(23):2853-2866. PubMed ID: 36952636
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution.
    Baccelli F; Leardini D; Cerasi S; Messelodi D; Bertuccio SN; Masetti R
    Ann Hematol; 2023 Apr; 102(4):699-705. PubMed ID: 36790458
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.
    Järviaho T; Halt K; Hirvikoski P; Moilanen J; Möttönen M; Niinimäki R
    Clin Genet; 2018 Feb; 93(2):392-395. PubMed ID: 28815563
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic
    Tummala H; Dokal AD; Walne A; Ellison A; Cardoso S; Amirthasigamanipillai S; Kirwan M; Browne I; Sidhu JK; Rajeeve V; Rio-Machin A; Seraihi AA; Duncombe AS; Jenner M; Smith OP; Enright H; Norton A; Aksu T; Özbek NY; Pontikos N; Cutillas P; Dokal I; Vulliamy T
    Proc Natl Acad Sci U S A; 2018 Jul; 115(30):7777-7782. PubMed ID: 29987015
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ERCC6L2-associated inherited bone marrow failure syndrome.
    Shabanova I; Cohen E; Cada M; Vincent A; Cohn RD; Dror Y
    Mol Genet Genomic Med; 2018 May; 6(3):463-468. PubMed ID: 29633571
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
    Armes H; Bewicke-Copley F; Rio-Machin A; Di Bella D; Philippe C; Wozniak A; Tummala H; Wang J; Ezponda T; Prosper F; Dokal I; Vulliamy T; Kilpivaara O; Wartiovaara-Kautto U; Fitzgibbon J; Rouault-Pierre K
    Br J Haematol; 2022 Dec; 199(5):754-764. PubMed ID: 36156210
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.
    Tummala H; Kirwan M; Walne AJ; Hossain U; Jackson N; Pondarre C; Plagnol V; Vulliamy T; Dokal I
    Am J Hum Genet; 2014 Feb; 94(2):246-56. PubMed ID: 24507776
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Aplastic anemia and clonal evolution: germ line and somatic genetics.
    Shimamura A
    Hematology Am Soc Hematol Educ Program; 2016 Dec; 2016(1):74-82. PubMed ID: 27913465
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Heterozygous
    Marsh JCW; Gutierrez-Rodrigues F; Cooper J; Jiang J; Gandhi S; Kajigaya S; Feng X; Ibanez MDPF; Donaires FS; Lopes da Silva JP; Li Z; Das S; Ibanez M; Smith AE; Lea N; Best S; Ireland R; Kulasekararaj AG; McLornan DP; Pagliuca A; Callebaut I; Young NS; Calado RT; Townsley DM; Mufti GJ
    Blood Adv; 2018 Jan; 2(1):36-48. PubMed ID: 29344583
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
    Bluteau O; Sebert M; Leblanc T; Peffault de Latour R; Quentin S; Lainey E; Hernandez L; Dalle JH; Sicre de Fontbrune F; Lengline E; Itzykson R; Clappier E; Boissel N; Vasquez N; Da Costa M; Masliah-Planchon J; Cuccuini W; Raimbault A; De Jaegere L; Adès L; Fenaux P; Maury S; Schmitt C; Muller M; Domenech C; Blin N; Bruno B; Pellier I; Hunault M; Blanche S; Petit A; Leverger G; Michel G; Bertrand Y; Baruchel A; Socié G; Soulier J
    Blood; 2018 Feb; 131(7):717-732. PubMed ID: 29146883
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Significance of myelodysplastic syndrome-associated somatic variants in the evaluation of patients with pancytopenia and idiopathic cytopenias of undetermined significance.
    Fernandez-Pol S; Ma L; Ohgami RS; Arber DA
    Mod Pathol; 2016 Sep; 29(9):996-1003. PubMed ID: 27255165
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.
    Myers KC; Furutani E; Weller E; Siegele B; Galvin A; Arsenault V; Alter BP; Boulad F; Bueso-Ramos C; Burroughs L; Castillo P; Connelly J; Davies SM; DiNardo CD; Hanif I; Ho RH; Karras N; Manalang M; McReynolds LJ; Nakano TA; Nalepa G; Norkin M; Oberley MJ; Orgel E; Pastore YD; Rosenthal J; Walkovich K; Larson J; Malsch M; Elghetany MT; Fleming MD; Shimamura A
    Lancet Haematol; 2020 Mar; 7(3):e238-e246. PubMed ID: 31879230
    [TBL] [Abstract][Full Text] [Related]  

  • 13. ERCC6L2 syndrome: attack of the TP53 clones.
    Wlodarski MW
    Blood; 2023 Jun; 141(23):2788-2789. PubMed ID: 37289478
    [No Abstract]   [Full Text] [Related]  

  • 14. First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.
    Bandini P; Borràs N; Fernandez Mellid E; Martin-Fernandez L; Melero Valentín P; Comes N; Ramírez L; Cadahia Fernández P; Rodríguez Ruiz M; Perez Encinas MM; Vidal F; Corrales I
    Br J Haematol; 2023 Nov; 203(4):e102-e107. PubMed ID: 37696499
    [No Abstract]   [Full Text] [Related]  

  • 15. Introduction to Acquired and Inherited Bone Marrow Failure.
    Sieff CA
    Hematol Oncol Clin North Am; 2018 Aug; 32(4):569-580. PubMed ID: 30047411
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.
    Atmar K; Ruivenkamp CAL; Hooimeijer L; Nibbeling EAR; Eckhardt CL; Huisman EJ; Lankester AC; Bartels M; Santen GWE; Smiers FJ; van der Burg M; Mohseny AB
    Front Immunol; 2022; 13():883826. PubMed ID: 35572556
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Physician Education: Myelodysplastic Syndrome.
    Yoshida Y
    Oncologist; 1996; 1(4):284-287. PubMed ID: 10388004
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
    Keel SB; Scott A; Sanchez-Bonilla M; Ho PA; Gulsuner S; Pritchard CC; Abkowitz JL; King MC; Walsh T; Shimamura A
    Haematologica; 2016 Nov; 101(11):1343-1350. PubMed ID: 27418648
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia.
    Yoshizato T; Dumitriu B; Hosokawa K; Makishima H; Yoshida K; Townsley D; Sato-Otsubo A; Sato Y; Liu D; Suzuki H; Wu CO; Shiraishi Y; Clemente MJ; Kataoka K; Shiozawa Y; Okuno Y; Chiba K; Tanaka H; Nagata Y; Katagiri T; Kon A; Sanada M; Scheinberg P; Miyano S; Maciejewski JP; Nakao S; Young NS; Ogawa S
    N Engl J Med; 2015 Jul; 373(1):35-47. PubMed ID: 26132940
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Aplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2018.
    Becktell K; Berlyne D; Pagliuca S; Pommert L; Prata PH; Margolis D; de Latour RP; Dufour C; Pierri F
    Leuk Res; 2019 May; 80():19-25. PubMed ID: 30908982
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.