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274 related items for PubMed ID: 3982506
21. Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Hassoun H, Vassiliadis JN, Murray J, Njolstad PR, Rogus JJ, Ballas SK, Schaffer F, Jarolim P, Brabec V, Palek J. Blood; 1997 Jul 01; 90(1):398-406. PubMed ID: 9207476 [Abstract] [Full Text] [Related]
22. Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis. Hassoun H, Vassiliadis JN, Murray J, Yi SJ, Hanspal M, Ware RE, Winter SS, Chiou SS, Palek J. J Clin Invest; 1995 Dec 01; 96(6):2623-9. PubMed ID: 8675627 [Abstract] [Full Text] [Related]
23. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. Eber SW, Armbrust R, Schröter W. J Pediatr; 1990 Sep 01; 117(3):409-16. PubMed ID: 2391596 [Abstract] [Full Text] [Related]
24. Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis. Savvides P, Shalev O, John KM, Lux SE. Blood; 1993 Nov 15; 82(10):2953-60. PubMed ID: 8219186 [Abstract] [Full Text] [Related]
25. Decreased membrane mechanical stability and in vivo loss of surface area reflect spectrin deficiencies in hereditary spherocytosis. Chasis JA, Agre P, Mohandas N. J Clin Invest; 1988 Aug 15; 82(2):617-23. PubMed ID: 3403720 [Abstract] [Full Text] [Related]
26. beta-Spectrin São PauloII, a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA. Bassères DS, Tavares AC, Costa FF, Saad ST. Braz J Med Biol Res; 2002 Aug 15; 35(8):921-5. PubMed ID: 12185384 [Abstract] [Full Text] [Related]
27. Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. Miraglia del Giudice E, Lombardi C, Francese M, Nobili B, Conte ML, Amendola G, Cutillo S, Iolascon A, Perrotta S. Br J Haematol; 1998 May 15; 101(2):251-4. PubMed ID: 9609518 [Abstract] [Full Text] [Related]
28. A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. Wolfe LC, John KM, Falcone JC, Byrne AM, Lux SE. N Engl J Med; 1982 Nov 25; 307(22):1367-74. PubMed ID: 6215583 [Abstract] [Full Text] [Related]
29. Cytoskeletal behaviour in spectrin and in band 3 deficient spherocytic red cells: evidence for differentiated splenic conditioning role. Ingrosso D, D'Angelo S, Perrotta S, d'Urzo G, Iolascon A, Perna AF, Galletti P, Zappia V, Miraglia del Giudice E. Br J Haematol; 1996 Apr 25; 93(1):38-41. PubMed ID: 8611472 [Abstract] [Full Text] [Related]
30. Hereditary spherocytosis and related disorders. Becker PS, Lux SE. Clin Haematol; 1985 Feb 25; 14(1):15-43. PubMed ID: 3886234 [Abstract] [Full Text] [Related]
32. Erythrocyte membrane protein defects in hereditary spherocytosis patients in Turkish population. Ayhan AC, Yildiz I, Yüzbaşıoğlu S, Celkan T, Apak H, Ozkan A, Karaman S. Hematology; 2012 Jul 25; 17(4):232-6. PubMed ID: 22889517 [Abstract] [Full Text] [Related]
33. Role of the interaction between Lu/BCAM and the spectrin-based membrane skeleton in the increased adhesion of hereditary spherocytosis red cells to laminin. Gauthier E, El Nemer W, Wautier MP, Renaud O, Tchernia G, Delaunay J, Le Van Kim C, Colin Y. Br J Haematol; 2010 Feb 25; 148(3):456-65. PubMed ID: 20092464 [Abstract] [Full Text] [Related]
34. Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil. Saad ST, Costa FF, Vicentim DL, Salles TS, Pranke PH. Br J Haematol; 1994 Oct 25; 88(2):295-9. PubMed ID: 7803273 [Abstract] [Full Text] [Related]
35. Analysis of novel sph (spherocytosis) alleles in mice reveals allele-specific loss of band 3 and adducin in alpha-spectrin-deficient red cells. Robledo RF, Lambert AJ, Birkenmeier CS, Cirlan MV, Cirlan AF, Campagna DR, Lux SE, Peters LL. Blood; 2010 Mar 04; 115(9):1804-14. PubMed ID: 20056793 [Abstract] [Full Text] [Related]
36. [Hereditary elliptocytosis caused by a spectrin deficiency (Sp alpha I/46). 1st patient described in Cuba]. Estrada del Cueto M, García Meneses M, Pérez Díez de los Ríos G, Lagarde Ampudia M. Sangre (Barc); 1992 Dec 04; 37(6):461-3. PubMed ID: 1293798 [Abstract] [Full Text] [Related]
37. Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis. Reliene R, Mariani M, Zanella A, Reinhart WH, Ribeiro ML, del Giudice EM, Perrotta S, Iolascon A, Eber S, Lutz HU. Blood; 2002 Sep 15; 100(6):2208-15. PubMed ID: 12200387 [Abstract] [Full Text] [Related]
38. SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant. Meglic A, Debeljak M, Kovac J, Trampus Bakija A, Rajic V, Kojc N, Trebusak Podkrajsek K. Nefrologia (Engl Ed); 2020 Sep 15; 40(4):421-428. PubMed ID: 32113667 [Abstract] [Full Text] [Related]
39. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. Maciag M, Płochocka D, Adamowicz-Salach A, Burzyńska B. Br J Haematol; 2009 Aug 15; 146(3):326-32. PubMed ID: 19538529 [Abstract] [Full Text] [Related]
40. Hereditary spectrin deficiency in Golden Retriever dogs. Slappendel RJ, van Zwieten R, van Leeuwen M, Schneijdenberg CT. J Vet Intern Med; 2005 Aug 15; 19(2):187-92. PubMed ID: 15822562 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]