Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM et al.
International Journal of Molecular Sciences, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
A case report of congenital erythropoietic anemia II in China with a novel mutation.
Zhang H et al.
Annals of Hematology, 2019
Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.
Bianchi P et al.
British Journal of Haematology, 2016
Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings.
Sharma P et al.
Hematology (amsterdam, Netherlands), 2015
Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.
Russo R et al.
American Journal of Hematology, 2014
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.
Unal S et al.
Pediatric Transplantation, 2014
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.
Russo R et al.
Blood Cells, Molecules & Diseases, 2013
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Punzo F et al.
Orphanet Journal of Rare Diseases, 2011
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
Russo R et al.
American Journal of Hematology, 2011
Congenital dyserythropoietic anemias.
Iolascon A et al.
Current Opinion in Hematology, 2011
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.
Russo R et al.
American Journal of Hematology, 2010
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.
Iolascon A et al.
Haematologica, 2010
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
Bianchi P et al.
Human Mutation, 2009
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K et al.
Nature Genetics, 2009