1 |
Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis.
57
6
|
Qualtieri A...Brancati C
|
9163587 |
1997 |
2 |
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis.
57
6
|
Gallagher PG...Forget BG
|
9075575 |
1996 |
3 |
A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216).
6
57
|
Kanzaki A...Horiguchi M
|
1391962 |
1992 |
4 |
An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216).
6
57
|
Tse WT...Forget BG
|
2070088 |
1991 |
5 |
Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis.
6
57
|
Pothier B...Lecomte MC
|
3580577 |
1987 |
6 |
Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.
57
|
Gallagher PG...Forget BG
|
9005995 |
1997 |
7 |
Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.
57
|
Gallagher PG...Forget BG
|
7883966 |
1995 |
8 |
Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.
6
|
Garbarz M...Forget BG
|
2056132 |
1991 |
9 |
Interactions of spectrin in hereditary elliptocytes containing truncated spectrin beta-chains.
57
|
Eber SW...Gratzer WB
|
3276733 |
1988 |
10 |
A case of elliptocytosis associated with a truncated spectrin chain.
57
|
Ohanian V...Gratzer WB
|
4052329 |
1985 |
11 |
Spectrin beta-chain variant associated with hereditary elliptocytosis.
57
|
Dhermy D...Boivin P
|
7119110 |
1982 |
12 |
Tryptic digestion of spectrin in variants of hereditary elliptocytosis.
57
|
Coetzer T...Zail SS
|
7229027 |
1981 |
13 |
Combination of hereditary elliptocytosis and hereditary spherocytosis.
57
|
Aksoy M...Dincol K
|
4426130 |
1974 |
14 |
Phenotypic diversity of human diseases resulting from allelic series.
57
|
McKusick VA
|
4577464 |
1973 |
15 |
Homozygous Southeast Asian Ovalocytosis in five live-born neonates.
61
|
Lavinya AA...Yusoff NM
|
33179475 |
2020 |
16 |
A case series of distal renal tubular acidosis, Southeast Asian ovalocytosis and metabolic bone disease.
61
|
Gunaratne W...Siribaddana S
|
32758154 |
2020 |
17 |
Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematological Analyses.
61
|
Yamsri S...Fucharoen S
|
32815885 |
2020 |
18 |
Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.
61
|
Bertocchio JP...Mouro-Chanteloup I
|
32154456 |
2020 |
19 |
A rare case of genetically linked primary distal renal tubular acidosis and Southeast Asian ovalocytosis.
61
|
Martin JL...Goodman D
|
32141208 |
2020 |
20 |
Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation.
61
|
Flatt JF...Bruce LJ
|
32411010 |
2020 |
21 |
Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis.
61
|
Zaidi AU...Ravindranath Y
|
32636758 |
2020 |
22 |
Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient.
61
|
Prayongratana K...Viprakasit V
|
31323480 |
2019 |
23 |
Advances in understanding the pathogenesis of red cell membrane disorders.
61
|
Iolascon A...Russo R
|
31364155 |
2019 |
24 |
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis.
61
|
Deejai N...Rungroj N
|
30124986 |
2019 |
25 |
Accurate light microscopic diagnosis of South-East Asian ovalocytosis.
61
|
Nixon CP...Kevin Baird J
|
30006977 |
2018 |
26 |
Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.
61
|
Llaudet-Planas E...Manu-Pereira MM
|
29024480 |
2018 |
27 |
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
61
|
Flatt JF...Bruce LJ
|
29713289 |
2018 |
28 |
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.
61
|
Watanabe T
|
30588151 |
2018 |
29 |
Can exchange transfusions using red blood cells from donors with Southeast Asian ovalocytosis prevent or ameliorate cerebral malaria in patients with multi-drug resistant Plasmodium falciparum?
61
|
Jajosky RP...Jajosky PG
|
29100683 |
2017 |
30 |
Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear.
61
|
Moulin PA...Baccini V
|
29043981 |
2017 |
31 |
Plasmodium falciparum Exflagellation in a Patient With Ovalocytosis.
61
|
Diallo MA...Ndiaye D
|
28755738 |
2017 |
32 |
Concurrent β-thalassaemia trait and Southeast Asian ovalocytosis associated with clinically significant iron loading.
61
|
Chen Y...Ang AL
|
28024237 |
2017 |
33 |
Idiopathic myelofibrosis accompanied by peritoneal extramedullary hematopoiesis presenting as refractory ascites in a dog.
61
|
Rautenbach Y...Clift SJ
|
27874969 |
2017 |
34 |
Effect of the Southeast Asian Ovalocytosis Deletion on the Conformational Dynamics of Signal-Anchor Transmembrane Segment 1 of Red Cell Anion Exchanger 1 (AE1, Band 3, or SLC4A1).
61
|
Fowler PW...Reithmeier RA
|
28068080 |
2017 |
35 |
Incidental finding of 3 Southeast Asian ovalocytosis cases by attentive examination of blood smears.
61
|
Moulin PA...Baccini V
|
28057675 |
2017 |
36 |
Diffusion of glycophorin A in human erythrocytes.
61
|
Giger K...Low PS
|
27580023 |
2016 |
37 |
Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
61
|
Reithmeier RA...Iwata S
|
27058983 |
2016 |
38 |
Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.
61
|
Da Costa L...French Society of Hematology (SFH)
|
26603718 |
2016 |
39 |
The evolutionary origins of Southeast Asian Ovalocytosis.
61
|
Paquette AM...Wilder JA
|
26047685 |
2015 |
40 |
[Band 3 deficiency as a cause of hereditary spherocytosis].
61
|
Wada H...Sugihara T
|
26251147 |
2015 |
41 |
Risk factors for malaria and adverse birth outcomes in a prospective cohort of pregnant women resident in a high malaria transmission area of Papua New Guinea.
61
|
Stanisic DI...Rogerson SJ
|
25758854 |
2015 |
42 |
Epistasis and the sensitivity of phenotypic screens for beta thalassaemia.
61
|
Penman BS...Weatherall DJ
|
25521998 |
2015 |
43 |
Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells.
61
|
Suemori S...Tohyama K
|
26557672 |
2015 |
44 |
Biomechanical properties of red blood cells in health and disease towards microfluidics.
61
|
Tomaiuolo G
|
25332724 |
2014 |
45 |
Malaria parasites and red cell variants: when a house is not a home.
61
|
Taylor SM...Fairhurst RM
|
24675047 |
2014 |
46 |
Evaluation of red cell membrane cytoskeletal disorders using a flow cytometric method in South iran.
61
|
Golafshan HA...Sharifzadeh S
|
24764726 |
2014 |
47 |
Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis.
61
|
Picard V...Thomas C
|
24652967 |
2014 |
48 |
Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis.
61
|
Ngouprommin L...Jetsrisuparb A
|
23557097 |
2014 |
49 |
A 65 bp deletion in band 3 gene of beta-thalassemia patients in Indonesia.
61
|
Dewajanthi AM...Freisleben HJ
|
24964668 |
2014 |
50 |
Structure, function, and trafficking of SLC4 and SLC26 anion transporters.
61
|
Cordat E...Reithmeier RA
|
24745980 |
2014 |