Schneider A - Search Results

1

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM. Yahyavi M, et al. Among authors: schneider a. Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591992 Free PMC article.

2

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.

Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH. Voronina VA, et al. Among authors: schneider as. Hum Mol Genet. 2004 Feb 1;13(3):315-22. doi: 10.1093/hmg/ddh025. Epub 2003 Dec 8. Hum Mol Genet. 2004. PMID: 14662654

3

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

Bardakjian TM, Schneider A. Bardakjian TM, et al. Among authors: schneider a. Am J Med Genet A. 2005 Jan 1;132A(1):54-6. doi: 10.1002/ajmg.a.30442. Am J Med Genet A. 2005. PMID: 15578584 Review.

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. Among authors: schneider a. 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

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. Among authors: schneider a. Mol Vis. 2008 Mar 24;14:583-92. Mol Vis. 2008. PMID: 18385794 Free PMC article.

6

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.

7

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.

8

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.

Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG. Bardakjian TM, et al. BMC Med Genet. 2009 Dec 16;10:137. doi: 10.1186/1471-2350-10-137. BMC Med Genet. 2009. PMID: 20003547 Free PMC article.

9

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. Reis LM, et al. Among authors: schneider a. Am J Med Genet A. 2010 Mar;152A(3):582-90. doi: 10.1002/ajmg.a.33257. Am J Med Genet A. 2010. PMID: 20140963 Free PMC article.

10

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. Among authors: schneider a. Mol Vis. 2010 Apr 28;16:768-73. Mol Vis. 2010. PMID: 20454695 Free PMC article.

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