| 1 |
Hereditary elliptocytosis: Variable clinical severity caused by 3 variants in the I+-spectrin gene. ( 29729090
)
|
Franck P....Kuypers F.
|
2018 |
| 2 |
Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis. ( 29484404
)
|
Ma S....Lin F.
|
2018 |
| 3 |
Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. ( 28060122
)
|
Charoenkwan P....Sangiamporn O.
|
2017 |
| 4 |
Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 27667160
)
|
Niss O....Kalfa T.A.
|
2016 |
| 5 |
Clinical Image: Hereditary Elliptocytosis with Pyropoikilocytosis. ( 26377499
)
|
Bayhan T....Gumruk F.
|
2015 |
| 6 |
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells. ( 26557672
)
|
Suemori S....Tohyama K.
|
2015 |
| 7 |
Erythrocyte deformability and hereditary elliptocytosis: A case report. ( 25261429
)
|
VayA! A....Fuster O.
|
2014 |
| 8 |
Variations in Both I+-Spectrin (SPTA1) and I^-Spectrin ( SPTB ) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis. ( 24193021
)
|
Christensen R.D....Yaish H.M.
|
2014 |
| 9 |
The coincidence of familial mediterranean Fever and hypereosinophilia in a patient with hereditary elliptocytosis. ( 25332561
)
|
Keklik M....Cetin M.
|
2014 |
| 10 |
The common hereditary elliptocytosis-associated I+-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. ( 23974198
)
|
Harper S.L....Speicher D.W.
|
2013 |
| 11 |
Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis. ( 24003435
)
|
Han E....Kim Y.J.
|
2013 |
| 12 |
|
Soderquist C....Bagg A.
|
2013 |
| 13 |
Transient aplastic crisis in hereditary elliptocytosis. ( 22294270
)
|
Kapavarapu P.K....Shet A.S.
|
2012 |
| 14 |
Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis. ( 22807418
)
|
Demiralp D.O....Akar N.
|
2012 |
| 15 |
Association of hereditary elliptocytosis and Gilbert's syndrome as the cause of biliary calculosis: case report. ( 21858981
)
|
RadloviA8 N....JovanovA8 M.
|
2011 |
| 16 |
Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis. ( 21839655
)
|
Baklouti F....Delaunay J.
|
2011 |
| 17 |
Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis. ( 20863723
)
|
MoriniA"re M....Baklouti F.
|
2010 |
| 18 |
Hereditary spherocytosis and hereditary elliptocytosis: aberrant protein sorting during erythroblast enucleation. ( 20339087
)
|
Salomao M....Chasis J.A.
|
2010 |
| 19 |
Malaria and hereditary elliptocytosis. ( 17696197
)
|
Boctor F.N....Dorion R.P.
|
2008 |
| 20 |
A case of hereditary elliptocytosis. ( 17984044
)
|
Kahwash E....Yearsley M.
|
2007 |
| 21 |
Increased erythrocyte adhesion in mice and humans with hereditary spherocytosis and hereditary elliptocytosis. ( 12947004
)
|
Wandersee N.J....Hillery C.A.
|
2004 |
| 22 |
Hereditary elliptocytosis: spectrin and protein 4.1R. ( 15071791
)
|
Gallagher P.G.
|
2004 |
| 23 |
Hemoglobinopathies, G6PD deficiency, and hereditary elliptocytosis in Bahrain. ( 15757247
)
|
Dash S.
|
2004 |
| 24 |
Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis. ( 16985305
)
|
Al Khairy K.S....Oluboyede O.A.
|
2003 |
| 25 |
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. ( 11918554
)
|
Maehara T....Ideguchi H.
|
2002 |
| 26 |
ChAcdiak-Higashi syndrome: an accelerated phase with hereditary elliptocytosis: case report and review of the literature. ( 17264559
)
|
Islam A.S....Ibrahim O.A.
|
2001 |
| 27 |
Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. ( 11154235
)
|
Wandersee N.J....Barker J.E.
|
2001 |
| 28 |
Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. ( 10845937
)
|
Muro A.F....Baralle F.E.
|
2000 |
| 29 |
Presumed hereditary elliptocytosis in a dog. ( 10590790
)
|
Mills J.N....Marsden C.A.
|
1999 |
| 30 |
Hereditary elliptocytosis complicating pregnancy. ( 15512307
)
|
Thangappah R.B....Baumber R.S.
|
1999 |
| 31 |
Reduced spectrin-ankyrin binding in a South African hereditary elliptocytosis kindred homozygous for spectrin St Claude. ( 9746802
)
|
Burke J.P....Coetzer T.L.
|
1998 |
| 32 |
Coinheritance of alpha-and beta-spectrin gene mutations in a case of hereditary elliptocytosis. ( 9882098
)
|
Dhermy D....Adekile A.
|
1998 |
| 33 |
Expression of spectrin alphaI/50 hereditary elliptocytosis and its association with the alphaLELY allele. ( 9691144
)
|
BassA"res D.S....Saad S.T.
|
1998 |
| 34 |
Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis. ( 9576854
)
|
Nicolas G....Lecomte M.C.
|
1998 |
| 35 |
Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. ( 9163587
)
|
Qualtieri A....Brancati C.
|
1997 |
| 36 |
Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression. ( 9322591
)
|
Silveira P....Tchernia G.
|
1997 |
| 37 |
Distal renal tubular acidosis and hereditary elliptocytosis in a single family. ( 9407765
)
|
Thong M.K....Lin H.P.
|
1997 |
| 38 |
Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. ( 9207403
)
|
BasserA"s D.S....Saad S.T.
|
1997 |
| 39 |
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. ( 9075575
)
|
Gallagher P.G....Forget B.G.
|
1996 |
| 40 |
Expression of spectrin alpha I/65 hereditary elliptocytosis in patients from Brazil. ( 8790144
)
|
Pranke P.H....Saad S.T.
|
1996 |
| 41 |
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. ( 8755921
)
|
Gallagher P.G....Forget B.G.
|
1996 |
| 42 |
Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. ( 8857939
)
|
Glele-Kakai C....Dhermy D.
|
1996 |
| 43 |
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. ( 8844207
)
|
Maillet P....Delaunay J.
|
1996 |
| 44 |
Hemolytic anemia precipitated by pregnancy in a patient with hereditary elliptocytosis. ( 8756106
)
|
Pajor A....Lehoczky D.
|
1996 |
| 45 |
Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya. ( 8956043
)
|
Maillet P....Yawata Y.
|
1996 |
| 46 |
Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. ( 9037349
)
|
Delaunay J....Wilmotte R.
|
1996 |
| 47 |
SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy). ( 7868135
)
|
Qualtieri A....Brancati C.
|
1995 |
| 48 |
Protein 4.1 Lille, a novel mutation in the downstream initiation codon of protein 4.1 gene associated with heterozygous 4,1(-) hereditary elliptocytosis. ( 7627190
)
|
Garbarz M....Dhermy D.
|
1995 |
| 49 |
A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli. ( 7803301
)
|
Wilmotte R....Iolascon A.
|
1994 |
| 50 |
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. ( 8018926
)
|
Parquet N....Garbarz M.
|
1994 |
