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Items: 1 to 20 of 123

1.

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.

2.

Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24.

Grootenboer S, Schischmanoff PO, Laurendeau I, Cynober T, Tchernia G, Dommergues JP, Dhermy D, Bost M, Varet B, Snyder M, Ballas SK, Ducot B, Babron MC, Stewart GW, Gasparini P, Iolascon A, Delaunay J.

Blood. 2000 Oct 1;96(7):2599-605.

3.
4.

Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter).

Carella M, Stewart G, Ajetunmobi JF, Perrotta S, Grootenboer S, Tchernia G, Delaunay J, Totaro A, Zelante L, Gasparini P, Iolascon A.

Am J Hum Genet. 1998 Sep;63(3):810-6.

5.

Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form.

Gore DM, Layton M, Sinha AK, Williamson PJ, Vaidya B, Connolly V, Mannix P, Chetty MC, Nicolaou A, Stewart GW.

Br J Haematol. 2004 May;125(4):521-7.

PMID:
15142123
6.

Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia.

Carella M, Stewart GW, Ajetunmobi JF, Schettini F Jr, Delaunay J, Iolascon A.

Haematologica. 1999 Sep;84(9):862-3. No abstract available.

7.

Hereditary dehydrated and overhydrated stomatocytosis: recent advances.

Delaunay J, Stewart G, Iolascon A.

Curr Opin Hematol. 1999 Mar;6(2):110-4. Review.

PMID:
10088641
8.

A variant of hereditary stomatocytosis with marked pseudohyperkalaemia.

Coles SE, Ho MM, Chetty MC, Nicolaou A, Stewart GW.

Br J Haematol. 1999 Feb;104(2):275-83.

PMID:
10050708
9.

A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema.

Grootenboer S, Schischmanoff PO, Cynober T, Rodrigue JC, Delaunay J, Tchernia G, Dommergues JP.

Br J Haematol. 1998 Nov;103(2):383-6.

PMID:
9827909
10.
11.

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.

Iolascon A, De Falco L, Borgese F, Esposito MR, Avvisati RA, Izzo P, Piscopo C, Guizouarn H, Biondani A, Pantaleo A, De Franceschi L.

Haematologica. 2009 Aug;94(8):1049-59. doi: 10.3324/haematol.2008.002873.

12.

Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.

Coles SE, Chetty MC, Ho MM, Nicolaou A, Kearney JW, Wright SD, Stewart GW.

Br J Haematol. 1999 Jun;105(4):1055-65.

PMID:
10554820
13.

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
14.

Hereditary stomatocytosis: association of low 2,3-diphosphoglycerate with increased cation pumping by the red cell.

Wiley JS, Cooper RA, Adachi K, Asakura T.

Br J Haematol. 1979 Jan;41(1):133-41.

PMID:
420735
15.

Familial pseudohyperkalaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human red cell membrane.

Haines PG, Crawley C, Chetty MC, Jarvis H, Coles SE, Fisher J, Nicolaou A, Stewart GW.

Br J Haematol. 2001 Feb;112(2):469-74.

PMID:
11167849
16.

Exclusion of the stomatin, alpha-adducin and beta-adducin loci in a large kindred with dehydrated hereditary stomatocytosis.

Innes DS, Sinard JH, Gilligan DM, Snyder LM, Gallagher PG, Morrow JS.

Am J Hematol. 1999 Jan;60(1):72-4.

17.

Red cell membrane response to hydrogen peroxide-sensitivity in hereditary xerocytosis and in other abnormal red cells.

Snyder LM, Sauberman N, Condara H, Dolan J, Jacobs J, Szymanski I, Fortier NL.

Br J Haematol. 1981 Jul;48(3):435-44.

PMID:
7259992
18.

Hereditary stomatocytosis and cation-leaky red cells--recent developments.

Bruce LJ.

Blood Cells Mol Dis. 2009 May-Jun;42(3):216-22. doi: 10.1016/j.bcmd.2009.01.014. Epub 2009 Mar 3. Review.

PMID:
19261491
19.

Familial pseudohyperkalemia: a rare cause of hyperkalemia.

Sugimoto T, Kume S, Osawa N, Nakazawa J, Koya D, Kashiwagi A.

Intern Med. 2005 Aug;44(8):875-8.

20.

[Hereditary stomatocytosis of the hydrocytosis type: a report of one family and red cell membrane studies].

Kida T, Nakamura H, Kuroki T, Mizoguchi Y, Kobayashi K, Yamane T, Im T, Tatsumi N, Ata K, Wada H, et al.

Rinsho Ketsueki. 1990 Jun;31(6):813-9. Japanese.

PMID:
2170705
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