BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 32703298)

  • 1. A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.
    Zama D; Giulietti G; Muratore E; Andolfo I; Russo R; Iolascon A; Pession A
    Ital J Pediatr; 2020 Jul; 46(1):102. PubMed ID: 32703298
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mild erythrocytosis as a presenting manifestation of
    Knight T; Zaidi AU; Wu S; Gadgeel M; Buck S; Ravindranath Y
    Pediatr Hematol Oncol; 2019 Aug; 36(5):317-326. PubMed ID: 31298594
    [TBL] [Abstract][Full Text] [Related]  

  • 3. PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.
    Imashuku S; Muramatsu H; Sugihara T; Okuno Y; Wang X; Yoshida K; Kato A; Kato K; Tatsumi Y; Hattori A; Kita S; Oe K; Sueyoshi A; Usui T; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Ogawa S; Kojima S; Kanno H
    Int J Hematol; 2016 Jul; 104(1):125-9. PubMed ID: 26971963
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.
    More TA; Dongerdiye R; Devendra R; Warang PP; Kedar PS
    Ann Hematol; 2020 Apr; 99(4):715-727. PubMed ID: 32112123
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
    Andolfo I; Alper SL; De Franceschi L; Auriemma C; Russo R; De Falco L; Vallefuoco F; Esposito MR; Vandorpe DH; Shmukler BE; Narayan R; Montanaro D; D'Armiento M; Vetro A; Limongelli I; Zuffardi O; Glader BE; Schrier SL; Brugnara C; Stewart GW; Delaunay J; Iolascon A
    Blood; 2013 May; 121(19):3925-35, S1-12. PubMed ID: 23479567
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Hereditary xerocytosis. Presentation of two pediatric cases].
    Eandi Eberle S; Pepe C; Aguirre F; Milanesio B; Fernández D; Ávalos Gómez V; Kinen A; Feliu Torres A
    Arch Argent Pediatr; 2019 Dec; 117(6):e684-e687. PubMed ID: 31758911
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
    Albuisson J; Murthy SE; Bandell M; Coste B; Louis-Dit-Picard H; Mathur J; Fénéant-Thibault M; Tertian G; de Jaureguiberry JP; Syfuss PY; Cahalan S; Garçon L; Toutain F; Simon Rohrlich P; Delaunay J; Picard V; Jeunemaitre X; Patapoutian A
    Nat Commun; 2013; 4():1884. PubMed ID: 23695678
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hereditary dehydrated stomatocytosis with splicing site mutation of PIEZO1 mimicking myelodysplastic syndrome diagnosed by targeted next-generation sequencing.
    Park J; Jang W; Han E; Chae H; Yoo J; Kim Y; Kim YJ; Kim M
    Pediatr Blood Cancer; 2018 Jul; 65(7):e27053. PubMed ID: 29603612
    [No Abstract]   [Full Text] [Related]  

  • 9. Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.
    Yang E; Voelkel EB; Lezon-Geyda K; Schulz VP; Gallagher PG
    Pediatr Blood Cancer; 2017 Aug; 64(8):. PubMed ID: 28121068
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
    Andolfo I; Monaco V; Cozzolino F; Rosato BE; Marra R; Cerbone V; Pinto VM; Forni GL; Unal S; Iolascon A; Monti M; Russo R
    Blood Adv; 2023 Jun; 7(12):2681-2693. PubMed ID: 36595486
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and biological features in
    Picard V; Guitton C; Thuret I; Rose C; Bendelac L; Ghazal K; Aguilar-Martinez P; Badens C; Barro C; Bénéteau C; Berger C; Cathébras P; Deconinck E; Delaunay J; Durand JM; Firah N; Galactéros F; Godeau B; Jaïs X; de Jaureguiberry JP; Le Stradic C; Lifermann F; Maffre R; Morin G; Perrin J; Proulle V; Ruivard M; Toutain F; Lahary A; Garçon L
    Haematologica; 2019 Aug; 104(8):1554-1564. PubMed ID: 30655378
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.
    Maciak K; Adamowicz-Salach A; Siwicka A; Poznanski J; Urasinski T; Plochocka D; Gora M; Burzynska B
    Blood Cells Mol Dis; 2020 Feb; 80():102378. PubMed ID: 31670187
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).
    Andolfo I; Russo R; Manna F; Shmukler BE; Gambale A; Vitiello G; De Rosa G; Brugnara C; Alper SL; Snyder LM; Iolascon A
    Am J Hematol; 2015 Oct; 90(10):921-6. PubMed ID: 26178367
    [TBL] [Abstract][Full Text] [Related]  

  • 14. PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.
    Andolfo I; Manna F; De Rosa G; Rosato BE; Gambale A; Tomaiuolo G; Carciati A; Marra R; De Franceschi L; Iolascon A; Russo R
    Haematologica; 2018 Mar; 103(3):e94-e97. PubMed ID: 29191841
    [No Abstract]   [Full Text] [Related]  

  • 15. Hereditary xerocytosis and familial haemolysis due to mutation in the PIEZO1 gene: a simple diagnostic approach.
    Sandberg MB; Nybo M; Birgens H; Frederiksen H
    Int J Lab Hematol; 2014 Aug; 36(4):e62-5. PubMed ID: 24314002
    [No Abstract]   [Full Text] [Related]  

  • 16. Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.
    Beneteau C; Thierry G; Blesson S; Le Vaillant C; Picard V; Béné MC; Eveillard M; Le Caignec C
    Clin Genet; 2014 Mar; 85(3):293-5. PubMed ID: 23581886
    [No Abstract]   [Full Text] [Related]  

  • 17. Hereditary xerocytosis: Diagnostic considerations.
    Risinger M; Glogowska E; Chonat S; Zhang K; Dagaonkar N; Joiner CH; Quinn CT; Kalfa TA; Gallagher PG
    Am J Hematol; 2018 Mar; 93(3):E67-E69. PubMed ID: 29210095
    [No Abstract]   [Full Text] [Related]  

  • 18. A Gardos channelopathy associated with nonimmune hydrops and fetal loss.
    Ghesh L; Besnard T; Joubert M; Picard V; Le Vaillant C; Beneteau C
    Clin Genet; 2022 Dec; 102(6):543-547. PubMed ID: 36031591
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dehydrated hereditary stomatocytosis masquerading as MDS.
    Paessler M; Hartung H
    Blood; 2015 Mar; 125(11):1841. PubMed ID: 25927085
    [No Abstract]   [Full Text] [Related]  

  • 20. Hereditary xerocytosis, a misleading anemia.
    Del Orbe Barreto R; Arrizabalaga B; De la Hoz Rastrollo AB; García-Orad A; Gonzalez Vallejo I; Bento C; Villegas A; García-Ruiz JC
    Ann Hematol; 2016 Sep; 95(9):1545-6. PubMed ID: 27250707
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.