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Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation.
Heimpel H, Schwarz K, Ebnöther M, Goede JS, Heydrich D, Kamp T, Plaumann L, Rath B, Roessler J, Schildknecht O, Schmid M, Wuillemin W, Einsiedler B, Leichtle R, Tamary H, Kohne E. Heimpel H, et al. Blood. 2006 Jan 1;107(1):334-40. doi: 10.1182/blood-2005-01-0421. Epub 2005 Sep 1. Blood. 2006. PMID: 16141353 Free article.
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.
Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H. Dgany O, et al. Am J Hum Genet. 2002 Dec;71(6):1467-74. doi: 10.1086/344781. Epub 2002 Nov 14. Am J Hum Genet. 2002. PMID: 12434312 Free PMC article.
This 28-exon gene, which is transcribed ubiquitously into 4738 nt mRNA, was reconstructed on the basis of gene prediction and homology searches. It encodes codanin-1, a putative o-glycosylated protein of 1,226 amino acids, with no obvious transmembrane domains. ...
This 28-exon gene, which is transcribed ubiquitously into 4738 nt mRNA, was reconstructed on the basis of gene prediction and homolog …
Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease.
Swickley G, Bloch Y, Malka L, Meiri A, Noy-Lotan S, Yanai A, Tamary H, Motro B. Swickley G, et al. BMC Mol Cell Biol. 2020 Mar 23;21(1):18. doi: 10.1186/s12860-020-00258-1. BMC Mol Cell Biol. 2020. PMID: 32293259 Free PMC article.
Recently, an additional etiologic factor for CDA I was reported, C15Orf41, a predicted nuclease. Mutations in both CDAN1 and C15Orf41 genes results in very similar erythroid phenotype. ...
Recently, an additional etiologic factor for CDA I was reported, C15Orf41, a predicted nuclease. Mutations in both CDAN1 and C15Orf41 …
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA; WGS500 Consortium; Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ. Babbs C, et al. Haematologica. 2013 Sep;98(9):1383-7. doi: 10.3324/haematol.2013.089490. Epub 2013 May 28. Haematologica. 2013. PMID: 23716552 Free PMC article.
We used whole genome sequencing and segregation analysis to identify a homozygous T to A transversion (c.533T>A), predicted to lead to a p.L178Q missense substitution in C15ORF41, a gene of unknown function, in a consanguineous pedigree of Middle-Eastern origin. Sequenc …
We used whole genome sequencing and segregation analysis to identify a homozygous T to A transversion (c.533T>A), predicted to lea …
Congenital dyserythropoietic anemia type I: report of a pair of siblings.
Mori PG, Favareto F, Schenone A, Molinari AC, Boeri E, Massimo L, Bandelloni R, Sansone G. Mori PG, et al. Acta Haematol. 1986;75(4):219-23. doi: 10.1159/000206129. Acta Haematol. 1986. PMID: 3096054
They are the sixth familial occurrence reported. Particularly interesting is the comparison between the course and laboratory data of our cases. An unusual finding is the presence of the antigen 'i' on the erythrocytes of both patients....
They are the sixth familial occurrence reported. Particularly interesting is the comparison between the course and laboratory data of …
CATSPER2, a human autosomal nonsyndromic male infertility gene.
Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS. Avidan N, et al. Eur J Hum Genet. 2003 Jul;11(7):497-502. doi: 10.1038/sj.ejhg.5200991. Eur J Hum Genet. 2003. PMID: 12825070
In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDA …
In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we ex …