1 |
Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.
6
61
54
|
Bruce LJ...Tanner MJ
|
12176912 |
2002 |
2 |
Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.
54
61
6
|
Hassoun H...Palek J
|
8675627 |
1995 |
3 |
Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.
6
54
61
|
Maillet P...Alloisio N
|
8547122 |
1995 |
4 |
Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).
6
61
54
|
Jarolim P...Brugnara C
|
8282779 |
1994 |
5 |
Hereditary spherocytosis associated with protein band 3 defect in a Swiss kindred.
61
54
6
|
Reinhart WH...Ott P
|
8011524 |
1994 |
6 |
Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.
61
6
54
|
Becker PS...Forget BG
|
8102379 |
1993 |
7 |
EPB42-Related Hereditary Spherocytosis
61
6
|
Kalfa TA...Begtrup AH
|
24624460 |
2014 |
8 |
Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update.
6
61
|
Bolton-Maggs PH...General Haematology Task Force of the British Committee for Standards in Haematology
|
22055020 |
2012 |
9 |
Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.
61
6
|
Maciag M...Burzynska B
|
19538529 |
2009 |
10 |
beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism.
6
61
|
Basseres DS...Saad ST
|
11703334 |
2001 |
11 |
Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III.
6
61
|
Bracher NA...Coetzer TL
|
11380459 |
2001 |
12 |
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis.
61
6
|
Gallagher PG...Forget BG
|
11167760 |
2000 |
13 |
Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.
6
61
|
Ribeiro ML...Tamagnini G
|
10942416 |
2000 |
14 |
4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis.
6
61
|
Perrotta S...Miraglia del Giudice E
|
10406914 |
1999 |
15 |
Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency.
61
6
|
Inoue T...Yawata Y
|
9734643 |
1998 |
16 |
Two distinct truncated variants of ankyrin associated with hereditary spherocytosis.
61
6
|
Hayette S...Delaunay J
|
9590147 |
1998 |
17 |
Beta-spectrin Promiss-ao: a translation initiation codon mutation of the beta-spectrin gene (ATG --> GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family.
6
61
|
Basseres DS...Hassoun H
|
9414314 |
1998 |
18 |
Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.
6
61
|
Alloisio N...Delaunay J
|
9207478 |
1997 |
19 |
Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.
6
61
|
Wichterle H...Jarolim P
|
8941647 |
1996 |
20 |
Hereditary spherocytosis with band 3 deficiency. Association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas).
61
6
|
Alloisio N...Delaunay J
|
8704215 |
1996 |
21 |
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
6
61
|
Jenkins PB...Gallagher PG
|
8567957 |
1996 |
22 |
A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame).
61
6
|
Matsuda M...Fukumaki Y
|
8528207 |
1995 |
23 |
A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.
6
61
|
Jarolim P...Palek J
|
7883994 |
1995 |
24 |
Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
61
6
|
Jarolim P...Palek J
|
7530501 |
1995 |
25 |
Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40glutamic acid-->lysine substitution in the cytoplasmic domain of band 3 (band 3Montefiore).
6
61
|
Rybicki AC...Schwartz RS
|
8471774 |
1993 |
26 |
Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2.
54
6
|
Jarolim P...Cohen CM
|
1378323 |
1992 |
27 |
An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON).
61
6
|
Bouhassira EE...Rybicki AC
|
1558976 |
1992 |
28 |
A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis.
6
61
|
Wolfe LC...Lux SE
|
6215583 |
1982 |
29 |
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
6
|
Bruce LJ...Stewart GW
|
16227998 |
2005 |
30 |
Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis.
6
|
Iwase S...Yamada H
|
9973643 |
1998 |
31 |
A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.
6
|
Hayette S...Delaunay J
|
7772513 |
1995 |
32 |
A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.
6
|
Hayette S...Morle L
|
7803799 |
1995 |
33 |
Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency.
6
|
Iwamoto S...Ikemoto S
|
8319790 |
1993 |
34 |
Asynchronous synthesis of membrane skeletal proteins during terminal maturation of murine erythroblasts.
6
|
Hanspal M...Palek J
|
1385736 |
1992 |
35 |
A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings.
6
|
Ghanem A...Delaunay J
|
2386772 |
1990 |
36 |
Synthesis and assembly of membrane skeletal proteins in mammalian red cell precursors.
6
|
Hanspal M...Palek J
|
3654760 |
1987 |
37 |
Hereditary spherocytosis and the (TA)nTAA polymorphism of UGT1A1 gene promoter region--a comparison of the bilirubin plasmatic levels in the different clinical forms.
61
54
|
Rocha S...Santos-Silva A
|
19931474 |
2010 |
38 |
Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.
61
54
|
Chu C...Cordat E
|
20028337 |
2010 |
39 |
Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.
61
54
|
Perrotta S...Iolascon A
|
19608679 |
2009 |
40 |
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis.
61
54
|
Chang YH...Lu PJ
|
19625994 |
2009 |
41 |
Interaction of anion exchanger 1 and glycophorin A in human erythroleukaemic K562 cells.
61
54
|
Pang AJ...Reithmeier RA
|
19438409 |
2009 |
42 |
Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis.
54
61
|
Hoblinger A...Lammert F
|
19380292 |
2009 |
43 |
The role of oxidative stress in hemolytic anemia.
61
54
|
Fibach E...Rachmilewitz E
|
18991647 |
2008 |
44 |
Hereditary spherocytosis.
61
54
|
Perrotta S...Mohandas N
|
18940465 |
2008 |
45 |
Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A.
61
54
|
Toye AM...Bruce LJ
|
18174378 |
2008 |
46 |
Autoimmune hemolytic anemia.
54
61
|
Gupta V...Bhatia BD
|
18537006 |
2008 |
47 |
A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis.
54
61
|
Edelman EJ...Gallagher PG
|
17327413 |
2007 |
48 |
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
61
54
|
Marino-Enriquez A...Rodriguez JI
|
17431908 |
2007 |
49 |
Pathogenic proline mutation in the linker between spectrin repeats: disease caused by spectrin unfolding.
54
61
|
Johnson CP...Discher DE
|
17192394 |
2007 |
50 |
Incidence and causes of severe neonatal hyperbilirubinemia in Canada.
54
61
|
Sgro M...Shah V
|
16966660 |
2006 |