Normal erythrocyte osmotic fragility in hereditary spherocytosis, The Journal of Pediatrics, vol.27, pp.30-34, 1989. ,
Prevalence of increased osmotic fragility of erythrocytes in German blood donors : screening using a modified glycerol lysis test, Annals of Hematology, vol.64, pp.88-92, 1992. ,
Red cell abnormalities in hereditary spherocytosis : relevance to diagnosis and understanding of the variable expression of clinical severity, The Journal of Laboratory and Clinical Medicine, vol.128, pp.259-269, 1996. ,
Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia, British Journal of Haematology, vol.111, pp.924-933, 2000. ,
Les maladies héréditaires de la membrane érythrocytaire : du tableau clinique aux mécanismes génétiques et moléculaires sous-jacents, Annales de biologie clinique, vol.58, pp.277-289, 2000. ,
Modulation of band 3-ankyrin interaction by protein 4.1, The Journal of Biological Chemistry, vol.271, pp.33187-33191, 1996. ,
Increased rotational mobility and extractability of band 3 from protein 4.2-deficient erythrocyte membranes : evidence of a role for protein 4.2 in strengthening the band 3-cytoskeleton linkage, Blood, vol.88, pp.2745-2753, 1996. ,
A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis, New England Journal of Medicine, vol.307, pp.1367-1374, 1982. ,
Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia, The Journal of Clinical Investigation, vol.98, 1996. ,
Different impact of alleles ? LEPRA and ? LELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans, British Journal of Haematology, vol.127, pp.118-122, 2004. ,
Identification of three mutations in the murine erythroid alpha spectrin gene causing hereditary spherocytosis in the mice, Blood, vol.92, issue.1, 1998. ,
Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency, Blood, vol.90, pp.398-406, 1997. ,
?-spectrin promissão: a translation initiation codon mutation of the ?-spectrin gene associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family, Blood, vol.1, issue.9, pp.368-369, 1998. ,
?-spectrin Kissimmee : a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1, Journal of Clinical Investigation, vol.92, pp.612-616, 1993. ,
Frequent de novo monoallelic expression of ?-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency, British Journal of Haematology, vol.101, pp.251-254, 1998. ,
Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20 % of patients with hereditary spherocytosis, Blood, vol.85, pp.3278-3282, 1995. ,
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis, British Journal of Hematology, vol.111, pp.1190-1193, 2000. ,
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis, Blood, vol.109, pp.5491-5493, 2007. ,
Homozygous missense mutation (band 3 Fukuoka : G130R) : a mild form of hereditary spherocytosis with near-normal band 3 ,
Hereditary spherocytosis with band 3 deficiency Association with a non-sense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas) Blood Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis, Blood, vol.88, issue.90, pp.414-420, 1996. ,
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3, Blood, vol.96, pp.1602-1604, 2000. ,
The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation : implications for band 3 function, Blood, vol.106, pp.4359-4366, 2005. ,
Hematologically important mutations : band 3 et protein 4.2 variants in hereditary spherocytosis, Blood cells, Molecules and Diseases, vol.23, pp.417-421, 1997. ,
Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation, The Journal of Clinical Investigations, vol.97, pp.1804-1817, 1996. ,
Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis, European Journal of Haematology, vol.74, pp.374-380, 2005. ,
Oxidative erythrocyte membrane damage in hereditary spherocytosis, Biochemistry International, vol.26, pp.265-274, 1992. ,
Erythropoietin levels in the different clinical forms of hereditary spherocytosis, British Journal of Haematology, vol.131, pp.534-542, 2005. ,
Hereditary spherocytosis in the elderly, The American Journal of Medicine, vol.84, pp.513-516, 1988. ,
An adult with aplastic crisis induced by human parvovirus B19 as an initial presentation of hereditary spherocytosis, The Korean Journal of Internal Medicine, vol.20, pp.96-99, 2005. ,
Pregnancy and hereditary spherocytosis Report of 8 patients and a review, Archives of Gynecology and Obstetrics, vol.253, pp.37-42, 1993. ,
Pregnancy complicated by hereditary spherocytosis, Obstetrics and gynecology, vol.79, pp.735-738, 1992. ,
Deficiency of a spectrin synthesis in burst-forming units erythroid in lethal hereditary spherocytosis, Blood, vol.78, pp.3043-3051, 1991. ,
UGT 1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis, Blood, 1998. ,
Variable clinical severity of hereditary spherocytosis : relation to erythrocytic spectrin concentration, osmotic fragility and autohemolysis, The Journal of Pediatrics, vol.117, pp.409-416, 1990. ,
Interaction of sickle cell trait with hereditary spherocytosis : splenic infarcts and sequestration, Acta Haematologica, vol.10, issue.62, pp.46-49, 2003. ,
Acute non-immune haemolytic anaemia during infectious mononucleosis unmasking spherocytosis, Acta Clinica Belgica, vol.44, pp.192-195, 1989. ,
High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis, Journal of Pediatric Hematology/Oncology, vol.25, pp.952-954, 2003. ,
Hereditary spherocytosis and hemochromatosis, Annals of Hematology, vol.81, pp.202-209, 2002. ,
Pelvic extramedullary haematopoiesis associated with hereditary spherocytosis, European Journal of Haematology, vol.70, pp.326-329, 2003. ,
Sphérocytose héréditaire : recommandations pour le diagnostic et la prise en charge chez l'enfant. Archives de Pédiatrie, 2008. ,
Screening for hereditary spherocytosis by use of automated erythrocyte indexes, The Journal of Pediatrics, vol.130, pp.957-960, 1997. ,
Hereditary spherocytosis with normal osmotic fragility after incubation. Is the autohemolysis test really obsolete?, The Journal of the American Medical Association, vol.242, pp.63-64, 1979. ,
Comparison of acidified glycerol test, pink test and osmotic fragility test in hereditary spherocytosis : effect of incubation, European Journal of Haematology, vol.40, pp.227-231, 1988. ,
A new test for the laboratory diagnosis of spherocytosis, Acta Haematologica, vol.72, pp.258-263, 1984. ,
Cryohemolysis test as a diagnostic tool for hereditary spherocytosis, Annals of Hematology, vol.78, pp.555-557, 1999. ,
Usefulness of cryohemolysis test in the diagnosis of hereditary spherocytosis, Archives of Medical Research, vol.28, pp.247-251, 1997. ,
Osmotic gradient ektacytometry : comprehensive characterization of red cell volume and surface maintenance, Blood, vol.61, pp.899-910, 1983. ,
Eosin-5'-maleimide binding to band 3 and Rh-related proteins forms the basis of a screening test for hereditary spherocytosis Experience with eosin-5'- maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders, British Journal of Haematology, vol.124, issue.25, pp.106-113, 2003. ,
Flow cytometry as a diagnostic tool for hereditary spherocytosis, Acta Haematologica, vol.116, pp.186-191, 2006. ,
Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect, Haematologica, 2008. ,
Capillary gel electrophoresis : separation of major erythrocyte membrane proteins, Journal of chromatography. B, Biomedical sciences and applications, vol.742, pp.411-419, 2000. ,
Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II) : value in differential diagnosis with hereditary spherocytosis, pp.7-13, 2001. ,
Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis, The Hematology Journal, vol.1, pp.146-152, 2000. ,
Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin and band 3-deficient hereditary spherocytosis, Blood, vol.100, pp.2208-2215, 2002. ,
Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis, Blood, vol.97, pp.399-403, 2001. ,
La courbe ROC (receiver operating characteristic) : principes et principales applications en biologie clinique, Annales de Biologie Clinique, vol.63, pp.145-154, 2005. ,