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Hereditary dehydrated and overhydrated stomatocytosis: recent advances.
Delaunay J, Stewart G, Iolascon A. Delaunay J, et al. Among authors: iolascon a. Curr Opin Hematol. 1999 Mar;6(2):110-4. doi: 10.1097/00062752-199903000-00009. Curr Opin Hematol. 1999. PMID: 10088641 Review.
All cases (as defined here) show increased plasma membrane permeability to Na+ and K+ and, to a greater or lesser degree, stomatocytic morphology. ...The gene responsible for both dehydrated hereditary stomatocytosis and familial pseudohyperkalemia, a nonhemolytic v …
All cases (as defined here) show increased plasma membrane permeability to Na+ and K+ and, to a greater or lesser degree, stomatocyti …
The "stomatin" gene and protein in overhydrated hereditary stomatocytosis.
Fricke B, Argent AC, Chetty MC, Pizzey AR, Turner EJ, Ho MM, Iolascon A, von Düring M, Stewart GW. Fricke B, et al. Among authors: iolascon a. Blood. 2003 Sep 15;102(6):2268-77. doi: 10.1182/blood-2002-06-1705. Epub 2003 May 15. Blood. 2003. PMID: 12750157
Magnetic-activated cell separation studies, using beads to which an anti-transferrin receptor antibody was conjugated, confirmed that in OHSt there was a correspondence between expression of stomatin and the transferrin receptor. ...The deficiency of stomatin from red cell …
Magnetic-activated cell separation studies, using beads to which an anti-transferrin receptor antibody was conjugated, confirmed that in OHS …
The congenital dyserythropoietic anaemias.
Delaunay J, Iolascon A. Delaunay J, et al. Among authors: iolascon a. Baillieres Best Pract Res Clin Haematol. 1999 Dec;12(4):691-705. doi: 10.1053/beha.1999.0048. Baillieres Best Pract Res Clin Haematol. 1999. PMID: 10895259 Review.
Their characterization is based on a careful examination of the bone marrow under light and electron microscopes. In addition, a number of rare or unique forms of dyserythropoiesis have been reported. ...Over the past few years, a more promising breakthrough …
Their characterization is based on a careful examination of the bone marrow under light and electron microscopes. In addition, a
Suppression of CDA II expression in a homozygote.
Beauchamp-Nicoud A, Schischmanoff PO, Alloisio N, Boivin P, Parsons SF, Mielot F, Tchernia G, Legrand A, Miraglia Del Giudice E, Gasparini P, Iolascon A, Wickramasinghe SN, Delaunay J. Beauchamp-Nicoud A, et al. Among authors: iolascon a. Br J Haematol. 1999 Sep;106(4):948-53. doi: 10.1046/j.1365-2141.1999.01626.x. Br J Haematol. 1999. PMID: 10519996
We report data on an additional member of a previously studied CDA II family. This member had always been regarded as haematologically normal. ...In particular, she was a homozygote for microsatellites D20S863 and D20S841. This prompted an analysis of all facets of …
We report data on an additional member of a previously studied CDA II family. This member had always been regarded as haematologicall …
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. Grootenboer S, et al. Among authors: iolascon a. Blood. 2000 Oct 1;96(7):2599-605. Blood. 2000. PMID: 11001917
Dehydrated hereditary stomatocytosis (DHS) is a rare genetic disorder of red cell permeability to cations, leading to a well-compensated hemolytic anemia. ...DHS appeared to be part of a pleiotropic syndrome in some families: DHS + perinatal edema, DHS + pseu …
Dehydrated hereditary stomatocytosis (DHS) is a rare genetic disorder of red cell permeability to cations, leading to a well-c …
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. Carella M, et al. Among authors: iolascon a. Am J Hum Genet. 1998 Sep;63(3):810-6. doi: 10.1086/302024. Am J Hum Genet. 1998. PMID: 9718354 Free PMC article.
We recruited a large three-generation Irish family affected with DHS and comprising 23 members, of whom 14 were affected and 9 were healthy. ...The DNA samples from the family members were used in a genomewide search to identify, by linkage analysis, the DHS locus. …
We recruited a large three-generation Irish family affected with DHS and comprising 23 members, of whom 14 were affected and 9 were h …
Membrane cation and anion transport activities in erythrocytes of hereditary spherocytosis: effects of different membrane protein defects.
De Franceschi L, Olivieri O, Miraglia del Giudice E, Perrotta S, Sabato V, Corrocher R, Iolascon A. De Franceschi L, et al. Among authors: iolascon a. Am J Hematol. 1997 Jul;55(3):121-8. doi: 10.1002/(sici)1096-8652(199707)55:3<121::aid-ajh1>3.0.co;2-u. Am J Hematol. 1997. PMID: 9256290
Moreover, since HS erythrocytes are characterized by an increased Na and a decreased K, we studied the principal membrane cation transport pathways. ...The increased Na and the low K content can be attributed to the abnormal membrane permeability to cations, which is not r …
Moreover, since HS erythrocytes are characterized by an increased Na and a decreased K, we studied the principal membrane cation tran …
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A; International Council for Standardization in Haematology. King MJ, et al. Among authors: iolascon a. Int J Lab Hematol. 2015 Jun;37(3):304-25. doi: 10.1111/ijlh.12335. Epub 2015 Mar 18. Int J Lab Hematol. 2015. PMID: 25790109
In the case of a patient's clinical phenotype being more severe than the affected members within the immediate family, molecular testing of all family members is useful for confirming the diagnosis and allows an insight into the molecular basis of the abnormality such as …
In the case of a patient's clinical phenotype being more severe than the affected members within the immediate family, molecular test …
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. Iolascon A, et al. Blood. 1999 May 1;93(9):3120-3. Blood. 1999. PMID: 10216110
Familial pseudohyperkalemia is a "leaky red blood cell" condition in which the cells show a temperature-dependent loss of potassium (K) from red blood cells when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a redu …
Familial pseudohyperkalemia is a "leaky red blood cell" condition in which the cells show a temperature-dependent loss of pota …
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. Iolascon A, et al. Haematologica. 2009 Aug;94(8):1049-59. doi: 10.3324/haematol.2008.002873. Haematologica. 2009. PMID: 19644137 Free PMC article.
DESIGN AND METHODS: We report a novel variant of hereditary stomatocytosis due to a de novo band 3 mutation (p. G796R-band3 CEINGE) associated with a dyserythropoietic phenotype. ...Functional characterization of band 3 CEINGE in Xenopus oocytes showed that t …
DESIGN AND METHODS: We report a novel variant of hereditary stomatocytosis due to a de novo band 3 mutation (p. G796R-band3 CE …
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