Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM et al.
International Journal of Molecular Sciences, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S4-final_16052022.xlsx › Table_4A
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 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
A novel variant mutation for congenital dyserythropoietic anemia, type II.
Song JY et al.
Blood Cells, Molecules & Diseases, 2014
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
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
21850656 (PubMed )
Supplement: ajh0086-0727-SD1.doc
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
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones MA et al.
Molecular Genetics and Metabolism, 0
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