PubMed (OMIM) for id: 10483

Year	Number of Results
1962	1
1967	1
1969	2
1972	1
1973	1
1975	2
1980	2
1982	1
1984	1
1987	1
1990	1
1992	1
1995	1
1996	1
1997	2
1998	1
2000	1
2001	1
2003	1
2009	2
2015	1
2024	0

1

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

Yehia L, Niazi F, Ni Y, Ngeow J, Sankunny M, Liu Z, Wei W, Mester JL, Keri RA, Zhang B, Eng C. Yehia L, et al. Am J Hum Genet. 2015 Nov 5;97(5):661-76. doi: 10.1016/j.ajhg.2015.10.001. Epub 2015 Oct 29. Am J Hum Genet. 2015. PMID: 26522472 Free PMC article.

2

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, Marcello AP, Righetti PG, Zanella A. Bianchi P, et al. Hum Mutat. 2009 Sep;30(9):1292-8. doi: 10.1002/humu.21077. Hum Mutat. 2009. PMID: 19621418

3

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H. Schwarz K, et al. Nat Genet. 2009 Aug;41(8):936-40. doi: 10.1038/ng.405. Epub 2009 Jun 28. Nat Genet. 2009. PMID: 19561605 Free article.

4

Congenital dyserythropoietic anemia type II in human patients is not due to mutations in the erythroid anion exchanger 1.

Perrotta S, Luzzatto L, Carella M, Iolascon A. Perrotta S, et al. Blood. 2003 Oct 1;102(7):2704-5. doi: 10.1182/blood-2003-07-2389. Blood. 2003. PMID: 14504075 Free article. No abstract available.

5

Chromosomal study in erythroblastic endopolyploidy.

DE LOZZIO CB, VALENCIA JI, ACAME E. DE LOZZIO CB, et al. Lancet. 1962 May 12;1(7237):1004-5. doi: 10.1016/s0140-6736(62)92038-x. Lancet. 1962. PMID: 13884336 No abstract available.

6

Natural history of congenital dyserythropoietic anemia type II.

Iolascon A, Delaunay J, Wickramasinghe SN, Perrotta S, Gigante M, Camaschella C. Iolascon A, et al. Blood. 2001 Aug 15;98(4):1258-60. doi: 10.1182/blood.v98.4.1258. Blood. 2001. PMID: 11493480 Free article.

7

Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II).

Perrotta S, del Giudice EM, Carbone R, Servedio V, Schettini F Jr, Nobili B, Iolascon A. Perrotta S, et al. J Pediatr. 2000 Apr;136(4):556-9. doi: 10.1016/s0022-3476(00)90026-x. J Pediatr. 2000. PMID: 10753261 Review.

8

Genetic heterogeneity of congenital dyserythropoietic anemia type II.

Iolascon A, De Mattia D, Perrotta S, Carella M, Gasparini P, Lambertenghi Deliliers G. Iolascon A, et al. Blood. 1998 Oct 1;92(7):2593-4. Blood. 1998. PMID: 9746803 Free article. No abstract available.

9

Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II).

Iolascon A, Miraglia del Giudice E, Perrotta S, Granatiero M, Zelante L, Gasparini P. Iolascon A, et al. Blood. 1997 Nov 15;90(10):4197-200. Blood. 1997. PMID: 9354691 Free article.

10

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search.

Gasparini P, Miraglia del Giudice E, Delaunay J, Totaro A, Granatiero M, Melchionda S, Zelante L, Iolascon A. Gasparini P, et al. Am J Hum Genet. 1997 Nov;61(5):1112-6. doi: 10.1086/301609. Am J Hum Genet. 1997. PMID: 9345103 Free PMC article.

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