1 |
Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.
62
5
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Huisjes R...van Wijk R
|
31147440 |
2020 |
2 |
The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis.
62
5
|
van Vuren A...van Wijk R
|
31723846 |
2019 |
3 |
Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.
62
5
|
Gallagher PG...Schulz VP
|
31038472 |
2019 |
4 |
The Spectrum of SPTA1-Associated Hereditary Spherocytosis.
62
5
|
Chonat S...Kalfa TA
|
31333484 |
2019 |
5 |
Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.
62
5
|
Wichterle H...Jarolim P
|
8941647 |
1996 |
6 |
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias.
5
|
Agarwal AM...Christensen RD
|
27292444 |
2016 |
7 |
Hereditary spherocytosis and the (TA)nTAA polymorphism of UGT1A1 gene promoter region--a comparison of the bilirubin plasmatic levels in the different clinical forms.
53
62
|
Rocha S...Santos-Silva A
|
19931474 |
2010 |
8 |
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.
53
62
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Chu C...Cordat E
|
20028337 |
2010 |
9 |
Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.
53
62
|
Perrotta S...Iolascon A
|
19608679 |
2009 |
10 |
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis.
53
62
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Chang YH...Lu PJ
|
19625994 |
2009 |
11 |
Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells.
53
62
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Pang AJ...Reithmeier RA
|
19438409 |
2009 |
12 |
Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis.
53
62
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Hoblinger A...Lammert F
|
19380292 |
2009 |
13 |
The role of oxidative stress in hemolytic anemia.
53
62
|
Fibach E...Rachmilewitz E
|
18991647 |
2008 |
14 |
Hereditary spherocytosis.
53
62
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Perrotta S...Mohandas N
|
18940465 |
2008 |
15 |
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.
53
62
|
Toye AM...Bruce LJ
|
18174378 |
2008 |
16 |
Autoimmune hemolytic anemia.
53
62
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Gupta V...Bhatia BD
|
18537006 |
2008 |
17 |
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis.
53
62
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Edelman EJ...Gallagher PG
|
17327413 |
2007 |
18 |
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
53
62
|
Marino-Enriquez A...Rodriguez JI
|
17431908 |
2007 |
19 |
Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding.
53
62
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Johnson CP...Discher DE
|
17192394 |
2007 |
20 |
Incidence and causes of severe neonatal hyperbilirubinemia in Canada.
53
62
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Sgro M...Shah V
|
16966660 |
2006 |
21 |
[Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis].
53
62
|
Camacho-Torres AL...Perea-Diaz FJ
|
17128827 |
2006 |
22 |
(AC)n microsatellite polymorphism and 14-nucleotide deletion in exon 42 ankyrin-1 gene in several families with hereditary spherocytosis in a population of South-Western Poland.
53
62
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Boguslawska DM...Sikorski AF
|
16518602 |
2006 |
23 |
Stiffness of normal and pathological erythrocytes studied by means of atomic force microscopy.
53
62
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Dulinska I...Szymonski M
|
16443279 |
2006 |
24 |
[Molecular mechanism of hereditary spherocytosis].
53
62
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Boguslawska DM...Sikorski AF
|
16617750 |
2006 |
25 |
Kernicterus associated with hereditary spherocytosis and UGT1A1 promoter polymorphism.
53
62
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Berardi A...Iolascon A
|
16735790 |
2006 |
26 |
Hematologically important mutations: ankyrin variants in hereditary spherocytosis.
53
62
|
Gallagher PG
|
16223590 |
2005 |
27 |
DNA methylation in promoter regions of red cell membrane protein genes in healthy individuals and patients with hereditary membrane disorders.
53
62
|
Remus R...Yawata Y
|
16158818 |
2005 |
28 |
Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane.
53
62
|
Lima PR...Saad ST
|
15813913 |
2005 |
29 |
Hereditary spherocytosis in association with severe G6PD deficiency: report of an unusual case.
53
62
|
Kedar PS...Mohanty D
|
15149895 |
2004 |
30 |
Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.
53
62
|
Shayakul C...Alper SL
|
15067510 |
2004 |
31 |
Hereditary spherocytosis associated with mutations in HFE gene.
53
62
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Montes-Cano MA...Gonzalez-Escribano MF
|
12961032 |
2003 |
32 |
Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis.
53
62
|
Ozcan R...Eber SW
|
12899723 |
2003 |
33 |
Erythrocyte membrane proteins in healthy Saudis and patients with hereditary spherocytosis and hereditary elliptocytosis.
53
62
|
Al Khairy KS...Oluboyede OA
|
16985305 |
2003 |
34 |
[Hereditary spherocytosis -- prevalence of erythrocyte membrane protein deficiency].
53
62
|
Granjo E...Quintanilha A
|
12828006 |
2003 |
35 |
Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47.
53
62
|
Mouro-Chanteloup I...Colin Y
|
12393467 |
2003 |
36 |
Anemia and the liver. Hepatobiliary manifestations of anemia.
53
62
|
Edwards CQ
|
12516198 |
2002 |
37 |
Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.
53
62
|
Bruce LJ...Tanner MJ
|
12176912 |
2002 |
38 |
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.
53
62
|
Vermeulen S...De Paepe A
|
11920837 |
2002 |
39 |
Molecular basis of red cell membrane disorders.
53
62
|
Delaunay J
|
12432217 |
2002 |
40 |
Genetic interactions in the pathogenesis of neonatal hyperbilirubinemia: Gilbert's Syndrome and glucose-6-phosphate dehydrogenase deficiency.
53
62
|
Kaplan M
|
11803413 |
2001 |
41 |
Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression.
53
62
|
Gallagher PG...Bodine DM
|
11527968 |
2001 |
42 |
Ankyrin gene mutations in japanese patients with hereditary spherocytosis.
53
62
|
Nakanishi H...Yawata Y
|
11372755 |
2001 |
43 |
Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis.
53
62
|
Wandersee NJ...Barker JE
|
11154235 |
2001 |
44 |
Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger.
53
62
|
Quilty JA...Reithmeier RA
|
11208088 |
2000 |
45 |
Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations.
53
62
|
Leite RC...Saad ST
|
11102985 |
2000 |
46 |
The human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoter.
53
62
|
Gallagher PG...Forget BG
|
10910934 |
2000 |
47 |
Increased methyl esterification of altered aspartyl residues in erythrocyte membrane proteins in response to oxidative stress.
53
62
|
Ingrosso D...Galletti P
|
10880963 |
2000 |
48 |
Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis.
53
62
|
Lee YK...Ahn HS
|
10895969 |
2000 |
49 |
The red blood cell band 3 variant (band 3Biceêtrel:R490C) associated with dominant hereditary spherocytosis causes defective membrane targeting of the molecule and a dominant negative effect.
53
62
|
Dhermy D...Grandchamp B
|
10766130 |
1999 |
50 |
Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice.
53
62
|
Gilligan DM...Peters LL
|
10485892 |
1999 |