References for this PMC Article for PMID: 18831064

Year	Number of Results
1998	1
1999	1
2002	1
2003	2
2005	2
2006	4
2007	1
2008	1
2024	0

1

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. Schneider A, et al. Am J Med Genet A. 2008 Nov 1;146A(21):2794-8. doi: 10.1002/ajmg.a.32384. Am J Med Genet A. 2008. PMID: 18831064 Free PMC article.

2

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.

Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P. Chassaing N, et al. Am J Med Genet A. 2007 Feb 1;143A(3):289-91. doi: 10.1002/ajmg.a.31524. Am J Med Genet A. 2007. PMID: 17219395 No abstract available.

3

Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.

Zenteno JC, Perez-Cano HJ, Aguinaga M. Zenteno JC, et al. Am J Med Genet A. 2006 Sep 15;140(18):1899-903. doi: 10.1002/ajmg.a.31384. Am J Med Genet A. 2006. PMID: 16892407

4

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR. Williamson KA, et al. Hum Mol Genet. 2006 May 1;15(9):1413-22. doi: 10.1093/hmg/ddl064. Epub 2006 Mar 16. Hum Mol Genet. 2006. PMID: 16543359

5

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.

Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C, Heyningen Vv, Fitzpatrick DR. Faivre L, et al. Am J Med Genet A. 2006 Mar 15;140(6):636-9. doi: 10.1002/ajmg.a.31114. Am J Med Genet A. 2006. PMID: 16470798 No abstract available.

6

Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.

Xiao P, Liu P, Weber JL, Papasian CJ, Recker RR, Deng HW. Xiao P, et al. Hum Mutat. 2006 Feb;27(2):133-7. doi: 10.1002/humu.20302. Hum Mutat. 2006. PMID: 16429396

7

Pediatric cutaneous mastocytosis: a review of 180 patients.

Ben-Amitai D, Metzker A, Cohen HA. Ben-Amitai D, et al. Isr Med Assoc J. 2005 May;7(5):320-2. Isr Med Assoc J. 2005. PMID: 15909466 Free article. Review.

8

SOX2 anophthalmia syndrome.

Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR. Ragge NK, et al. Am J Med Genet A. 2005 May 15;135(1):1-7; discussion 8. doi: 10.1002/ajmg.a.30642. Am J Med Genet A. 2005. PMID: 15812812

9

Mutations in SOX2 cause anophthalmia.

Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR. Fantes J, et al. Nat Genet. 2003 Apr;33(4):461-3. doi: 10.1038/ng1120. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612584

10

Multipotent cell lineages in early mouse development depend on SOX2 function.

Avilion AA, Nicolis SK, Pevny LH, Perez L, Vivian N, Lovell-Badge R. Avilion AA, et al. Genes Dev. 2003 Jan 1;17(1):126-40. doi: 10.1101/gad.224503. Genes Dev. 2003. PMID: 12514105 Free PMC article.

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