Similar articles for PMID: 18831064

Year	Number of Results
1993	2
1995	2
1996	1
1999	1
2003	3
2004	6
2005	5
2006	7
2007	5
2008	5
2009	5
2010	4
2011	8
2012	5
2013	10
2014	8
2015	6
2016	6
2017	4
2018	9
2019	7
2020	6
2021	8
2022	4
2023	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

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. Schneider A, et al. Am J Med Genet A. 2009 Dec;149A(12):2706-15. doi: 10.1002/ajmg.a.33098. Am J Med Genet A. 2009. PMID: 19921648 Free PMC article.

3

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

Pedace L, Castori M, Binni F, Pingi A, Grammatico B, Scommegna S, Majore S, Grammatico P. Pedace L, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):273-6. doi: 10.1016/j.ejmg.2009.02.007. Epub 2009 Feb 28. Eur J Med Genet. 2009. PMID: 19254784

4

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK. Bakrania P, et al. Br J Ophthalmol. 2007 Nov;91(11):1471-6. doi: 10.1136/bjo.2007.117929. Epub 2007 May 23. Br J Ophthalmol. 2007. PMID: 17522144 Free PMC article.

5

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL. Zhou J, et al. Mol Vis. 2008 Mar 24;14:583-92. Mol Vis. 2008. PMID: 18385794 Free PMC article.

6

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Lüdecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coëslier A, Zink AM. Dennert N, et al. Am J Med Genet A. 2017 Feb;173(2):435-443. doi: 10.1002/ajmg.a.38034. Epub 2016 Nov 14. Am J Med Genet A. 2017. PMID: 27862890 Review.

7

A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss.

Zhang Y, Zhang X, Long R, Yu L. Zhang Y, et al. J Genet. 2018 Sep;97(4):1007-1011. J Genet. 2018. PMID: 30262714 Free article.

8

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.

Macchiaroli A, Kelberman D, Auriemma RS, Drury S, Islam L, Giangiobbe S, Ironi G, Lench N, Sowden JC, Colao A, Pivonello R, Cavallo L, Gasperi M, Faienza MF. Macchiaroli A, et al. Gene. 2014 Jan 25;534(2):282-5. doi: 10.1016/j.gene.2013.10.043. Epub 2013 Nov 6. Gene. 2014. PMID: 24211324

9

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.

Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV. Reis LM, et al. Mol Vis. 2010 Apr 28;16:768-73. Mol Vis. 2010. PMID: 20454695 Free PMC article.

10

[SOX2 defect and anophthalmia and microphthalmia].

Ye FX, Fan XQ. Ye FX, et al. Zhonghua Yan Ke Za Zhi. 2012 Nov;48(11):1049-52. Zhonghua Yan Ke Za Zhi. 2012. PMID: 23302280 Review. Chinese.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

114 results

Results by year