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Abbreviation : HE
Long Form : hereditary elliptocytosis
No. Year Title Co-occurring Abbreviation
2019 Algorithmic evaluation of hereditary erythrocytosis: Pathways and caveats. ---
2019 Applications of imaging flow cytometry in the diagnostic assessment of red cell membrane disorders. EMA, HS, IFC
2019 Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane. G6PD, HS, PK, RBC
2019 Spectrin-based membrane skeleton supports ciliogenesis. IFT, SCA
2018 Inherited hemolytic anemia: a possessive beginner's guide. HS, HX, OHS
2018 Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders. HS, IES, RBC
2018 Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. SPTA1
2018 The frequency of occurrence of fish-shaped red blood cells in different haematologic disorders. AIHA, AML, BTM, CML, CMML, HPF, HS, IDA, LD, MAHA, MDS, PB, PMF, RBC, SCD
2018 Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients. DHSt, EI, GPI, HS, HSt, PK, PNH
10  2017 Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing. HS, NGS, RBC, SNVs
11  2017 Red cell membrane disorders. HS
12  2016 Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. HPP, RBC, SPTB
13  2016 Modeling of band-3 protein diffusion in the normal and defective red blood cell membrane. HS, RBC
14  2016 Red blood cell-derived microparticles: An overview. G6PD, HS, HSt, MPs, RBC, RMPs, SCA, STr, TI
15  2015 Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. EMA, HPP, HS, MCF, SAO
16  2015 Evaluating eosin-5-maleimide binding as a diagnostic test for hereditary spherocytosis in newborn infants. EMA, HS, NGS
17  2015 ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. HS, HSt
18  2015 Vesiculation of healthy and defective red blood cells. HS, RBCs
19  2015 [Erythrocyte membrane abnormalities - hereditary elliptocytosis]. ---
20  2015 [Hereditary red cell membrane disorders in Japan: comparison with other countries]. HS, HSt
21  2014 The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis. FMF
22  2014 Variations in both alpha-spectrin (SPTA1) and beta-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. ANK1, LELY, SPTB
23  2013 Hereditary red cell membrane disorders and laboratory diagnostic testing. AGLT, EMA, HPP, HS
24  2013 The common hereditary elliptocytosis-associated alpha-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. HPP
25  2012 Anterior ischemic optic neuropathy in patient with hereditary spherocytosis and coexisting angioid streaks. AION
26  2012 Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis. HS, MALDI-TOF, RBC
27  2010 Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. HS
28  2010 The erythroid niche: molecular processes occurring within erythroblastic islands. HS
29  2009 Hereditary spherocytosis and elliptocytosis associated with prosthetic heart valve replacement: rheological study of erythrocyte modifications. HS
30  2008 Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site. HPP
31  2007 Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding. HPP, HS
32  2005 Prosthetic heart valves' mechanical loading of red blood cells in patients with hereditary membrane defects. HS, PHVs
33  2004 Hereditary elliptocytosis: spectrin and protein 4.1R. ---
34  2003 Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis. HS
35  2003 Experience with eosin-5'-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders. EMA, G6PD, HS, MCF, RBC, SDS-PAGE
36  2003 Mutations in the murine erythroid alpha-spectrin gene alter spectrin mRNA and protein levels and spectrin incorporation into the red blood cell membrane skeleton. HS
37  2003 Red blood cell membrane defects. DHS, HPP, HS
38  2002 Enhanced haemolysis with beta-thalassaemia trait due to the unstable beta chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4.1 deficiency in a Japanese family. ---
39  2002 Molecular basis of red cell membrane disorders. DHS, HS
40  2001 Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. Dem, Dem, HS
41  2001 Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied. HS, HSt, Sp
42  2001 [Laparoscopic splenectomy in the treatment of hematologic diseases]. PTI
43  2000 Association of the alpha-spectrin R28H mutation with allele alphaLELY and with alphaI/alphaII domain haplotypes in three Brazilian families. ---
44  2000 Erythroid phosphatidyl serine exposure is not predictive of thrombotic risk in mice with hemolytic anemia. HS, PS, RBCs
45  1998 A large deletion within the protein 4.1 gene associated with a stable truncated mRNA and an unaltered tissue-specific alternative splicing. ---
46  1998 Expression of spectrin alphaI/50 hereditary elliptocytosis and its association with the alphaLELY allele. ---
47  1998 Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. SpD
48  1997 Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. ---
49  1997 Distal renal tubular acidosis and hereditary elliptocytosis in a single family. RTA
50  1997 Genetic basis of the polymorphisms of the alphaI domain of spectrin. HPP
51  1997 Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. ---
52  1997 Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. SSCP
53  1997 [Characteristics of red cell membrane disorders in the Japanese population]. HS
54  1996 Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. ---
55  1996 Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. ---
56  1996 Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. HPP
57  1996 Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. HS
58  1996 Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. HPP, HS
59  1996 [Hereditary elliptocytosis]. ---
60  1995 A TaqI polymorphism in the human erythroid beta spectrin gene. HS, RFLP
61  1995 Beta spectrin PRAGUE: a truncated beta spectrin producing spectrin deficiency, defective spectrin heterodimer self-association and a phenotype of spherocytic elliptocytosis. HS
62  1995 Erythrocytes carrying mutations in spectrin and protein 4.1 show differing sensitivities to invasion by Plasmodium falciparum. alpha Sp, HPP
63  1995 SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy). ---
64  1995 Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential. ---
65  1994 Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. HPP, PCR, Sp, SSCP
66  1994 Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74). ---
67  1993 An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism. ---
68  1993 Atypical hereditary ovalocytosis associated with defective dyserythropoietic anemia. ---
69  1993 Immunocytochemical study of membrane skeletons in abnormally shaped erythrocytes as revealed by a quick-freezing and deep-etching method. HS
70  1993 Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I variants. HPP, Sp
71  1993 Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria: an alpha I/50b Kd variant that is caused by a single amino acid deletion. ---
72  1993 Thrombosis of the portal venous system after splenectomy for pediatric hematologic disease. CT, ITP, TI, US
73  1992 A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. HPP
74  1992 Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin. ---
75  1992 Quantification of red blood cell fragmentation: usefulness of heating cells and of automatic counting devices. RBC
76  1992 Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene. PCR, Sp
77  1992 [Clinical and biochemical study of 9 patients with hereditary elliptocytosis]. ---
78  1992 [Hereditary elliptocytosis caused by a spectrin deficiency (Sp alpha I/46). 1st patient described in Cuba]. ---
79  1992 [Pelger-Huet anomaly and hereditary elliptocytosis in 2 siblings]. PHA
80  1991 Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis. Sp
81  1991 Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1. RBC
82  1991 Molecular analysis of hereditary elliptocytosis with reduced protein 4.1 in the French Northern Alps. ---
83  1991 Rapid localization of membrane skeletal protein 4.1 (EL1) to human chromosome 1p33----p34.2 by nonradioactive in situ hybridization. ---
84  1991 [Cytoskeleton anomalies in disorders of red cell membrane proteins]. HS
85  1990 Abnormal tryptic peptide from the spectrin alpha-chain resulting from alpha- or beta-chain mutations: two genetically distinct forms of the Sp alpha I/74 variant. HPP, Sp
86  1990 Assignment of Sp alpha I/74 hereditary elliptocytosis to the alpha- or beta-chain of spectrin through in vitro dimer reconstitution. ---
87  1990 Evidence that expression of Sp alpha I/65 hereditary elliptocytosis is compounded by a genetic factor that is linked to the homologous alpha-spectrin allele. ---
88  1990 Growth of Plasmodium falciparum in human erythrocytes containing abnormal membrane proteins. HS
89  1990 Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. HPP, Sp
90  1990 Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association. ---
91  1990 Spectrin modifications in a heterozygous case of both hereditary elliptocytosis and beta-thalassemia. ---
92  1989 Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes. HPP, Sp
93  1989 Viscoelastic properties of red cell membrane in hereditary elliptocytosis. NEM, SpD, SpO, SpT
94  1989 [Family of hereditary elliptocytosis with abnormalities of spectrin function (Sp alpha 1/74)]. HPP
95  1988 Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. HPP, Sp
96  1988 [Hereditary elliptocytosis in West Africa: frequency and repartition of spectrin variants]. ---
97  1987 A new variant of the alpha subunit of spectrin in hereditary elliptocytosis. ---
98  1987 Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. HPP
99  1987 Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins. HPP
100  1987 Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. HPP