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Items: 1 to 20 of 94

1.

4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis.

Perrotta S, Iolascon A, Polito R, d'Urzo G, Conte ML, Miraglia del Giudice E.

Haematologica. 1999 Jul;84(7):660-2. No abstract available.

2.

A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka).

Takaoka Y, Ideguchi H, Matsuda M, Sakamoto N, Takeuchi T, Fukumaki Y.

Br J Haematol. 1994 Nov;88(3):527-33.

PMID:
7819064
3.
4.

Genetics of the red cell membrane skeleton.

Palek J, Lambert S.

Semin Hematol. 1990 Oct;27(4):290-332. Review. No abstract available.

PMID:
2255917
5.

Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.

Yawata Y, Kanzaki A, Yawata A, Doerfler W, Ozcan R, Eber SW.

Int J Hematol. 2000 Feb;71(2):118-35.

PMID:
10745622
6.

Hematologically important mutations: band 3 and protein 4.2 variants in hereditary spherocytosis.

Gallagher PG, Forget BG.

Blood Cells Mol Dis. 1997 Dec;23(3):417-21. Review. No abstract available.

PMID:
9446757
7.

Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis.

Iolascon A, Miraglia del Giudice E, Camaschella C.

Haematologica. 1992 Jan-Feb;77(1):60-72. Review.

PMID:
1356891
8.

Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin.

Costa FF, Agre P, Watkins PC, Winkelmann JC, Tang TK, John KM, Lux SE, Forget BG.

N Engl J Med. 1990 Oct 11;323(15):1046-50. No abstract available.

9.

[Characteristics of hereditary spherocytosis].

Yawata Y.

Nihon Naika Gakkai Zasshi. 1999 Sep 10;88(9):1825-33. Review. Japanese. No abstract available.

PMID:
10581770
10.

Genetic disorders of the red cell membranes.

Delaunay J.

FEBS Lett. 1995 Aug 1;369(1):34-7. Review.

11.

Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG).

Beauchamp-Nicoud A, Morle L, Lutz HU, Stammler P, Agulles O, Petermann-Khder R, Iolascon A, Perrotta S, Cynober T, Tchernia G, Delaunay J, Baudin-Creuza V.

Haematologica. 2000 Jan;85(1):19-24.

12.

Clinical expression and laboratory detection of red blood cell membrane protein mutations.

Palek J, Jarolim P.

Semin Hematol. 1993 Oct;30(4):249-83. Review. No abstract available.

PMID:
8266114
13.

[Hemolytic anemia caused by congenital anomalies of the erythrocyte membrane].

Boivin P.

J Genet Hum. 1986 Nov;34(5):393-412. Review. French. No abstract available.

PMID:
3540209
14.

Co-existence of hereditary spherocytosis and a new red cell pyruvate kinase variant: PK mallorca.

Zarza R, Moscardó M, Alvarez R, García J, Morey M, Pujades A, Vives-Corrons JL.

Haematologica. 2000 Mar;85(3):227-32.

15.

Band 4.2 Shiga: 317 CGC-->TGC in compound heterozygotes with 142 GCT-->ACT results in band 4.2 deficiency and microspherocytosis.

Kanzaki A, Yasunaga M, Okamoto N, Inoue T, Yawata A, Wada H, Andoh A, Hodohara K, Fujiyama Y, Bamba T, et al.

Br J Haematol. 1995 Oct;91(2):333-40.

PMID:
8547071
16.

Demonstration of the deletion of a copy of the ankyrin gene in a patient with hereditary spherocytosis by in situ hybridization.

Tse WT, Menninger JC, Ward DC, Chilcote RR, John KM, Lux SE, Forget BG.

Trans Assoc Am Physicians. 1990;103:242-8. No abstract available.

PMID:
2151901
17.

Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency.

Inoue T, Kanzaki A, Kaku M, Yawata A, Takezono M, Okamoto N, Wada H, Sugihara T, Yamada O, Katayama Y, Nagata N, Yawata Y.

Br J Haematol. 1998 Sep;102(4):932-9.

PMID:
9734643
18.

The red cell skeleton and its genetic disorders.

Delaunay J, Alloisio N, Morlé L, Pothier B.

Mol Aspects Med. 1990;11(3):161-241. Review. No abstract available.

PMID:
2403451
19.

[Alteration of erythrocyte membrane proteins in a family with hereditary spherocytosis].

Inoue F, Matsuyama R, Yoneyama S.

Nihon Ketsueki Gakkai Zasshi. 1989 Nov;52(7):1122-7. Japanese.

PMID:
2618557
20.

A genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis.

Ideguchi H, Nishimura J, Nawata H, Hamasaki N.

Br J Haematol. 1990 Mar;74(3):347-53.

PMID:
2139792
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