BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

108 related articles for article (PubMed ID: 22775407)

  • 1. Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type.
    Noris P; Valli R; Pecci A; Marletta C; Invernizzi R; Mare L; Balduini CL; Maserati E
    Eur J Haematol; 2012 Oct; 89(4):345-9. PubMed ID: 22775407
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.
    Stevenson WS; Rabbolini DJ; Beutler L; Chen Q; Gabrielli S; Mackay JP; Brighton TA; Ward CM; Morel-Kopp MC
    Blood; 2015 Oct; 126(17):2027-30. PubMed ID: 26316623
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Paris-Trousseau: evidence keeps pointing to FLI1.
    Di Paola J
    Blood; 2015 Oct; 126(17):1973-4. PubMed ID: 26494917
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.
    Antony-Debré I; Bluteau D; Itzykson R; Baccini V; Renneville A; Boehlen F; Morabito M; Droin N; Deswarte C; Chang Y; Leverger G; Solary E; Vainchenker W; Favier R; Raslova H
    Blood; 2012 Sep; 120(13):2719-22. PubMed ID: 22677128
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Singling out FLI1 in Paris-Trousseau syndrome.
    Falet H
    Blood; 2017 Jun; 129(26):3399-3401. PubMed ID: 28663223
    [TBL] [Abstract][Full Text] [Related]  

  • 6. SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.
    Trkova M; Becvarova V; Hynek M; Hnykova L; Hlavova E; Kreckova G; Kulovany E; Cutka D; Zatloukalova J; Markova K; Sukova M; Horacek J; Stejskal D
    Am J Med Genet A; 2012 Oct; 158A(10):2545-50. PubMed ID: 22887642
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.
    Carpinelli MR; Kruse EA; Arhatari BD; Debrincat MA; Ogier JM; Bories JC; Kile BT; Burt RA
    Am J Pathol; 2015 Jul; 185(7):1867-76. PubMed ID: 26093983
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
    Conrad S; Demurger F; Moradkhani K; Pichon O; Le Caignec C; Pascal C; Thomas C; Bayart S; Perlat A; Dubourg C; Jaillard S; Nizon M
    Am J Med Genet A; 2019 Jun; 179(6):993-1000. PubMed ID: 30888095
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases.
    Favier R; Jondeau K; Boutard P; Grossfeld P; Reinert P; Jones C; Bertoni F; Cramer EM
    Thromb Haemost; 2003 Nov; 90(5):893-7. PubMed ID: 14597985
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23.
    Breton-Gorius J; Favier R; Guichard J; Cherif D; Berger R; Debili N; Vainchenker W; Douay L
    Blood; 1995 Apr; 85(7):1805-14. PubMed ID: 7703487
    [TBL] [Abstract][Full Text] [Related]  

  • 11. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia.
    Raslova H; Komura E; Le Couédic JP; Larbret F; Debili N; Feunteun J; Danos O; Albagli O; Vainchenker W; Favier R
    J Clin Invest; 2004 Jul; 114(1):77-84. PubMed ID: 15232614
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.
    Galvão Gomes A; Paiva Grangeiro CH; Silva LR; Oliveira-Gennaro FG; Pereira CS; Joaquim TM; Panepucci RA; Squire JA; Martelli L
    Mol Syndromol; 2017 Jan; 8(1):45-49. PubMed ID: 28232783
    [TBL] [Abstract][Full Text] [Related]  

  • 13. FLI1 level during megakaryopoiesis affects thrombopoiesis and platelet biology.
    Vo KK; Jarocha DJ; Lyde RB; Hayes V; Thom CS; Sullivan SK; French DL; Poncz M
    Blood; 2017 Jun; 129(26):3486-3494. PubMed ID: 28432223
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome.
    Krishnamurti L; Neglia JP; Nagarajan R; Berry SA; Lohr J; Hirsch B; White JG
    Am J Hematol; 2001 Apr; 66(4):295-9. PubMed ID: 11279643
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3).
    Bernaciak J; Szczałuba K; Derwińska K; Wiśniowiecka-Kowalnik B; Bocian E; Sasiadek MM; Makowska I; Stankiewicz P; Smigiel R
    Am J Med Genet A; 2008 Oct; 146A(19):2449-54. PubMed ID: 18792974
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case report.
    Ichimiya Y; Wada Y; Kunishima S; Tsukamoto K; Kosaki R; Sago H; Ishiguro A; Ito Y
    J Med Case Rep; 2018 Jan; 12(1):3. PubMed ID: 29307309
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years.
    Takahashi I; Takahashi T; Sawada K; Shimojima K; Yamamoto T
    Am J Med Genet A; 2012 Jan; 158A(1):220-3. PubMed ID: 22139980
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation.
    Chen CP; Lin SP; Hsu CH; Chern SR; Su JW; Chen YJ; Pan CW; Wang W
    Genet Couns; 2012; 23(2):223-9. PubMed ID: 22876581
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lonely in Paris: when one gene copy isn't enough.
    Shivdasani RA
    J Clin Invest; 2004 Jul; 114(1):17-9. PubMed ID: 15232606
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with thrombocytopenia.
    Hart A; Melet F; Grossfeld P; Chien K; Jones C; Tunnacliffe A; Favier R; Bernstein A
    Immunity; 2000 Aug; 13(2):167-77. PubMed ID: 10981960
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.