pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish

by Liu, Yi, Semina, Elena V.
Published 2012

MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens

by Sorokina, Elena A., Muheisen, Sanaa, Mlodik, Nevin, Semina, Elena V.
Published 2011

Functional analysis of human mutations in homeodomain transcription factor PITX3

by Sakazume, Satoru, Sorokina, Elena, Iwamoto, Yoshiki, Semina, Elena V
Published 2007

Lens Extrusion from Laminin Alpha 1 Mutant Zebrafish

by Pathania, Mallika, Semina, Elena V., Duncan, Melinda K.
Published 2014

Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract

by Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.
Published 2014

laminin alpha 1 gene is essential for normal lens development in zebrafish

by Zinkevich, Natalya S, Bosenko, Dmitry V, Link, Brian A, Semina, Elena V
Published 2006

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome

by Maciolek, Nicole L, Alward, Wallace LM, Murray, Jeffrey C, Semina, Elena V, McNally, Mark T
Published 2006

VSX2 mutations in autosomal recessive microphthalmia

by Reis, Linda M., Khan, Ayesha, Kariminejad, Ariana, Ebadi, Farhad, Tyler, Rebecca C., Semina, Elena V.
Published 2011

Analysis of FOXD3 sequence variation in human ocular disease

by Kloss, Bethany A. Volkmann, Reis, Linda M., Brémond-Gignac, Dominique, Glaser, Tom, Semina, Elena V.
Published 2012

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

by Happ, Hannah, Weh, Eric, Costakos, Deborah, Reis, Linda M., Semina, Elena V.
Published 2016

Identification of an Alu‐repeat‐mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype

by Schilter, Kala F., Reis, Linda M., Sorokina, Elena A., Semina, Elena V.
Published 2015

Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

by Deml, Brett, Kariminejad, Ariana, Borujerdi, Razieh H. R., Muheisen, Sanaa, Reis, Linda M., Semina, Elena V.
Published 2015

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

by Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V
Published 2016

Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional character...

by Verdin, Hannah, Sorokina, Elena A, Meire, Françoise, Casteels, Ingele, de Ravel, Thomy, Semina, Elena V, De Baere, Elfride
Published 2014

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

by Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.
Published 2011

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

by Reis, Linda M., Tyler, Rebecca C., Weh, Eric, Hendee, Kathryn E., Kariminejad, Ariana, Abdul-Rahman, Omar, Ben-Omran, Tawfeg, Manning, Melanie A., Yesilyurt, Ahmet, McCarty, Catherine A., Kitchner, Terrie E., Costakos, Deborah, Semina, Elena V.
Published 2016