Publications

A. E. Gallardo1, A. S. Schneider2, M. A. Dwyer2, C. Ayuso3, P. Bovolenta4 and A. Rodríguez de Córdoba1,5. Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. American Journal Medical Genetics& 2004 Aug 15;129A(1):92-4.

Voronina VA, Kozhemyakina EA, O’Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet. 2004 Feb 1;13(3):315-22. Epub 2003 Dec 08.

David Ng, Nalin Thakker, Connie M Corcoran, Dian Donnai, Rahat Perveen, Adele Schneider, Donald W Hadley, Cynthia Tifft, Liq’un Zhang, Andrew O.M. Wilkie, Jasper J van der Smagt, Robert Gorlin, Shawn M Burgess, Vivian J Bardwell, Graeme CM Black, Leslie G Biesecker. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in the X-linked transcription corepresssor, BCOR. Nat Genet. 2004 Apr;36(4):411-6. Epub 2004 Mar 07.

Tanya M Bardakjian and Adele S Schneider, Association of anophthalmia/ microphthalmia and esophageal atresia: Four new cases identified by the Anophthalmia/Microphthalmia Clinical Registry. American Journal Medical Genetics, 132A:54-56(2005). Epub Dec 2^nd 2004.

Nicola K Ragge 1,2, Birgit Lorenz3, Adele Schneider4, Kate Bushby5, Luisa de Sanctis6, Ugo de Sanctis7,Alison Salt8, J Richard O Collin1, Anthony J Vivian 9, Samantha L Free10, Pamela Thompson10, Kathy Williamson11, Sanjay M Sisodiya 10, Veronica van Heyningen11, David R FitzPatrick11.SOX2Anophthalmia Syndrome. American Journal Medical Genetics, 135A:1-7 (2005).

Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR. Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia. 2006 Mar;47(3):534-42.

AS Schneider, MA Dwyer, V Voronina, C O’Kernick, P Mathers. A Mutation in the RX homeobox gene in two individuals with different ophthalmologic manifestations. Poster presentation at the Annual American Society of Human Genetics, San Diego, CA, October 2001. Am J Hum Genet 69(4) suppl., A2782, October 2001.

ME Gallardo, AS Schneider, MA Dwyer, S Rodriguez de Cordoba. De novo mutation in the SIX 6 homeobox gene in a patient with bilateral anophthalmia. Poster presentation at the Annual American Society of Human Genetics, San Diego, CA, October 2001. Am J Hum Genet 69(4) suppl., A2528, October 2001.

Mathers P, Kozhemyakina E, Voronina V, O’Kernick C, Linberg J, Schneider A. Mouse models of anophthalmia mutations in the human Rx gene. Platform presentation at ARVO annual meeting, Fort Lauderdale, May 2002. Abstract number 2002.

Schneider, P. Mathers, V. Voronina, C. O’Kernick, C. Ramsburg, J. Murray, E. Semina, A. Glaser, S. Tarle, E. Oliver, S. Banfi, C. Vitiello, E. Silva, O. Sundin, M. Dwyer. Anophthalmia/Microphthalmia(A/M) Registry: Results of first 2 years of gene screening. Is A/M biallelic? Poster presentation at the Annual American Society of Human Genetics, Baltimore. MD., October 2002. Am J Hum Genet 71(4), A618, October 2002.

Schneider AS, Bardakjian TM. Sellers CM, Barbagallo, JE. Anophthalmia/Microphthalmia Registry: Review of 90 cases further demonstrates heterogeneity of anophthalmia/microphthalmia. Poster presentation at the annual American Society of Human Genetics, San Francisco, California, October 1999. AM J Hum Genet Vol 65 (4) supple. A 1993, October 1999.

 

Contacts

Tanya M. Bardakjian, MS, CGC
Coordinator of anophthalmia/microphthalmia Research Project
215-456-8722
Albert Einstein Medical Center
5501 Old York Rd
Genetics Levy 2 West
Philadelphia, PA 19141
bardakjiant@einstein.edu