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Items: 1 to 20 of 109

1.

Dehydrated red blood cells in a peripheral blood film: a case of hereditary xerocytosis.

Velasco-Rodríguez D, Alonso-Domínguez JM, Ruiz E, Acedo N, González-Fernández FA, Villarrubia J.

Br J Haematol. 2014 Aug;166(3):309. doi: 10.1111/bjh.12933. Epub 2014 May 5. No abstract available.

PMID:
24797868
2.

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. doi: 10.1111/ijlh.12172. Epub 2013 Dec 6. No abstract available.

PMID:
24314002
3.

Hereditary xerocytosis revisited.

Archer NM, Shmukler BE, Andolfo I, Vandorpe DH, Gnanasambandam R, Higgins JM, Rivera A, Fleming MD, Sachs F, Gottlieb PA, Iolascon A, Brugnara C, Alper SL, Nathan DG.

Am J Hematol. 2014 Dec;89(12):1142-6. doi: 10.1002/ajh.23799. Epub 2014 Jul 21. No abstract available.

4.

Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

Shmukler BE, Vandorpe DH, Rivera A, Auerbach M, Brugnara C, Alper SL.

Blood Cells Mol Dis. 2014 Jan;52(1):53-4. doi: 10.1016/j.bcmd.2013.07.015. Epub 2013 Aug 23. No abstract available.

PMID:
23973043
5.

Dehydrated hereditary stomatocytosis masquerading as MDS.

Paessler M, Hartung H.

Blood. 2015 Mar 12;125(11):1841. No abstract available.

6.

Nonimmune hydrops fetalis due to congenital xerocytosis.

Vicente-Gutiérrez MP, Castelló-Almazán I, Salvía-Roiges MD, Rodríguez-Miguélez JM, Vives-Corrons JL, Figueras-Aloy J, Carbonell-Estrany X.

J Perinatol. 2005 Jan;25(1):63-5.

PMID:
15608620
7.

Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging.

Assis RA, Kassab C, Seguro FS, Costa FF, Silveira PA, Wood J, Hamerschlak N.

Einstein (Sao Paulo). 2013 Dec;11(4):528-32. English, Portuguese.

8.

Dehydrated hereditary stomatocytosis and recurrent prenatal ascites.

Poret H, Simon EG, Hervé P, Perrotin F.

J Obstet Gynaecol. 2013 Jul;33(5):527. doi: 10.3109/01443615.2013.781142. No abstract available.

PMID:
23815216
9.

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. doi: 10.1111/cge.12147. Epub 2013 Apr 14. No abstract available.

PMID:
23581886
10.

Dehydrated hereditary stomatocytosis.

Layton DM, Bain BJ.

Am J Hematol. 2016 Feb;91(2):266. doi: 10.1002/ajh.24212. Epub 2015 Nov 17. No abstract available.

PMID:
26440377
11.

Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis).

Demolombe S, Duprat F, Honoré E, Patel A.

Biophys J. 2013 Aug 20;105(4):833-4. doi: 10.1016/j.bpj.2013.07.018. No abstract available.

12.

Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred.

Houston BL, Zelinski T, Israels SJ, Coghlan G, Chodirker BN, Gallagher PG, Houston DS, Zarychanski R.

Blood Cells Mol Dis. 2011 Dec 15;47(4):226-31. doi: 10.1016/j.bcmd.2011.08.001. Epub 2011 Sep 25.

PMID:
21944700
13.

Prenatal diagnosis and management of fetal xerocytosis associated with ascites.

Sánchez M, Palacio M, Borrell A, Carmona F, Cobo T, Coll O, Cararach V.

Fetal Diagn Ther. 2005 Sep-Oct;20(5):402-5.

PMID:
16113561
14.

Red blood cell enzyme disorders: an overview.

Tavazzi D, Taher A, Cappellini MD.

Pediatr Ann. 2008 May;37(5):303-10. Review. No abstract available.

PMID:
18543541
15.

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 1;93(9):3120-3.

16.

Hereditary xerocytosis. A case history and review of the literature.

Nolan GR.

Pathology. 1984 Apr;16(2):151-4.

PMID:
6462778
17.

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. doi: 10.1038/ncomms2899. Erratum in: Nat Commun. 2013;4:2440.

18.

In utero erythrocyte transfusion for fetal xerocytosis associated with severe anemia and non-immune hydrops fetalis.

Ogburn PL Jr, Ramin KD, Danilenko-Dixon D, Fairbanks VF, Ramsey PS.

Am J Obstet Gynecol. 2001 Jul;185(1):238-9.

PMID:
11483935
19.

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 9;121(19):3925-35, S1-12. doi: 10.1182/blood-2013-02-482489. Epub 2013 Mar 11.

20.

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.

Bae C, Gnanasambandam R, Nicolai C, Sachs F, Gottlieb PA.

Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):E1162-8. doi: 10.1073/pnas.1219777110. Epub 2013 Mar 4.

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