| 1 | ANK1, SPH1
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| Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis.
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| Gallagher PG, Steiner LA, Liem RI, Owen AN, Cline AP, Seidel NE, Garrett LJ, Bodine DM.
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| J Clin Invest 120(12):4453-65. doi: 10.1172/JCI42240. Epub 2010 Nov 22.
2010
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| 2 | EL1, EL2, EL3, EL4, SPH1, SPH2, SPH3, SPH4, SPH5
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| Disorders of red cell membrane.
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| An X, Mohandas N.
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| Br J Haematol 141(3):367-75. Epub 2008 Mar 12. Review. 2008
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| 3 | DEL14QV, SPH1, SPTB
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| A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.
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| Lybaek H, Řyen N, Fauske L, Houge G.
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| Clin Genet 74(6):553-9. Epub 2008 Aug 18.PMID: 18717686 2008
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| 4 | ANK1, SPH1
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| [Polymorphism analysis of G199A, Ncol in ANK1 and Memphis I in SLC4A1 genes in Mexican healthy individuals and subjects affected with hereditary spherocytosis]
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| Camacho-Torres AL, S‡nchez-L—pez JY, Mesa-Cornejo VM, Ibarra B, Perea-D’az FJ.
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| Gac Med Mex 142(5):435-7. Spanish. 2006
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| 5 | ANK1, DEL8PP, FGFR1, KAL2, SPH1
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| New case of contiguous gene syndrome at chromosome 8p11.2p12.
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| Cau M, Congiu R, Origa R, Galanello R, Melis MA, Nucaro AL.
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| Am J Med Genet A 136A(2):221-222. 2005
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| 6 | ANK1, SPH1
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| A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis.
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| Gallagher PG, Nilson DG, Wong C, Weisbein JL, Garrett-Beal LJ, Eber SW, Bodine DM.
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| Hum Mol Genet 14(17):2501-9. Epub 2005 Jul 21. 2005
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| 7 | ANK1, DEL8PP, FGFR1, KAL2, SPH1
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| Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
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| Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.
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| Nat Genet 33(4):463-5. Epub 2003 Mar 10. 2003
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| 8 | ANK1, SPH1
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| Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis : three new ANK1 variants : ankyrins Bari, Napoli II and Anzio.
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| Randon J, et al.
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| Br J Haematol 96 : 500-506. 1997
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| 9 | ANK1, SPH1
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| Ankyrin Bugey : a de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis.
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| MorlŽ L, et al.
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| Am J Hematol 54 : 242-248. 1997
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| 10 | ANK1, SPH1
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| Ankyrin Napoli : a De novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.
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| Miraglia del Giudice E, et al.
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| Br J Haematol 93 : 828-834. 1996
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| 11 | ANK1, SPH1
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| Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
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| Eber SW, et al.
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| Nat Genet 13 : 214-218. 1996
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| 12 | ANK1, SPH1
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| 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.
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| Jarolim P, et al.
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| J Clin Invest 95 : 941-947. 1995
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| 13 | ANK1, SPH1
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| Hereditary spherocytic anemia with deletion of the short arm of chromosome 8.
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| Okamoto N, et al.
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| Am J Med Genet 58 : 225-229. 1995
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| 14 | ANK1, SPH1
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| Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8.
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| Lux SE, et al.
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| Nature 345 : 736-739. 1990
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| 15 | ANK1, SPH1
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| Dominant hereditary spherocytosis (HS) is linked to the gene for the erythrocyte membrane protein ankyrin.
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| Forget BG, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 999. 1989
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| 16 | EL1, EL2, EL4, EPB41, SPH1, SPH2, SPH3, SPTA1, SPTB
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| Hereditary disorders of the red cell membrane skeleton.
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| Davies KA, et al.
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| Trends Genet 5 : 222-227. 1989
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| 17 | SPH1, SPH2
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| Localization of the spherocytosis gene to chromosome segment 8p11.22-8p21.1.
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| Kitatani M, et al.
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| Hum Genet 78 : 94-95. 1988
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| 18 | SPH1, SPH2
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| Association of red cell spherocytosis with deletion of the short arm of chromosome 8.
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| Chilcote RR, et al.
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| Blood 69 : 156-159. 1987
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| 19 | SPH1
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| Identification of the molecular defect in the erythrocyte membrane skeleton of some kindreds with hereditary spherocytosis.
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| Goodman SR, et al.
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| Blood 60 : 772-784. 1982
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| 20 | SPH1, SPH2
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| Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation.
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| Kimberling WJ, et al.
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| Am J Hum Genet 27 : 586-594. 1975
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