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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. Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). Iolascon A; Stewart GW; Ajetunmobi JF; Perrotta S; Delaunay J; Carella M; Zelante L; Gasparini P Blood; 1999 May; 93(9):3120-3. PubMed ID: 10216110 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Dehydrated hereditary stomatocytosis masquerading as MDS. Paessler M; Hartung H Blood; 2015 Mar; 125(11):1841. PubMed ID: 25927085 [No Abstract] [Full Text] [Related]