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Results: 1 to 20 of 99

Similar articles for PubMed (Select 21275958)

1.

Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient.

Hammill AM, Risinger MA, Joiner CH, Keddache M, Kalfa TA.

Br J Haematol. 2011 Mar;152(6):780-3. doi: 10.1111/j.1365-2141.2010.08516.x. Epub 2011 Jan 31. 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.

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
4.

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.

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.

[Molecular mechanism of hereditary spherocytosis].

Bogusławska DM, Heger E, Sikorski AF.

Pol Merkur Lekarski. 2006 Jan;20(115):112-6. Review. Polish.

PMID:
16617750
7.

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
8.

Ankyrin-linked hereditary spherocytosis in an African-American kindred.

Sangerman J, Maksimova Y, Edelman EJ, Morrow JS, Forget BG, Gallagher PG.

Am J Hematol. 2008 Oct;83(10):789-94. doi: 10.1002/ajh.21254.

PMID:
18704959
9.

A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame).

Matsuda M, Hatano N, Ideguchi H, Takahira H, Fukumaki Y.

Hum Mol Genet. 1995 Jul;4(7):1187-91.

PMID:
8528207
10.

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.

11.

Genetic disorders of the red cell membranes.

Delaunay J.

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

12.

Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1.

Van Zwieten R, François JJ, Van Leeuwen K, Van Wesel AC, Van Bruggen R, Van Solinge WW, Roos D, Verhoeven AJ, Van Wijk R.

Am J Hematol. 2013 Feb;88(2):159-60. doi: 10.1002/ajh.23363. Epub 2012 Dec 17. No abstract available.

PMID:
23255290
13.

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
14.

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
15.

Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.

Chu C, Woods N, Sawasdee N, Guizouarn H, Pellissier B, Borgese F, Yenchitsomanus PT, Gowrishankar M, Cordat E.

Biochem J. 2010 Feb 24;426(3):379-88. doi: 10.1042/BJ20091525.

16.

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
17.

Red cell membrane polypeptides under normal conditions and in genetic disorders.

Delaunay J.

Transfus Clin Biol. 1995;2(4):207-16. Review.

PMID:
8542017
18.

Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.

Miraglia del Giudice E, Vallier A, Maillet P, Perrotta S, Cutillo S, Iolascon A, Tanner MJ, Delaunay J, Alloisio N.

Br J Haematol. 1997 Jan;96(1):70-6.

PMID:
9012689
20.

Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.

Wichterle H, Hanspal M, Palek J, Jarolim P.

J Clin Invest. 1996 Nov 15;98(10):2300-7.

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