pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish

Por Liu, Yi, Semina, Elena V.
Publicado em 2012

GENETICS OF ANTERIOR SEGMENT DYSGENESIS DISORDERS

Por Reis, Linda M., Semina, Elena V.
Publicado em 2011

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma

Por Reis, Linda M., Semina, Elena V.
Publicado no Birth Defects Res C Embryo Today (2015)

Lens Extrusion from Laminin Alpha 1 Mutant Zebrafish

Por Pathania, Mallika, Semina, Elena V., Duncan, Melinda K.
Publicado em 2014

Functional analysis of human mutations in homeodomain transcription factor PITX3

Por Sakazume, Satoru, Sorokina, Elena, Iwamoto, Yoshiki, Semina, Elena V
Publicado em 2007

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

Por Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.
Publicado em 2014

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

Por Sorokina, Elena A., Muheisen, Sanaa, Mlodik, Nevin, Semina, Elena V.
Publicado em 2011

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

Por Zinkevich, Natalya S, Bosenko, Dmitry V, Link, Brian A, Semina, Elena V
Publicado em 2006

EFTUD2 deficiency in vertebrates: identification of a novel human mutation and generation of a zebrafish model

Por Deml, Brett, Reis, Linda M., Muheisen, Sanaa, Bick, David, Semina, Elena V.
Publicado no Birth Defects Res A Clin Mol Teratol (2015)

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

Por Schilter, Kala F., Reis, Linda M., Sorokina, Elena A., Semina, Elena V.
Publicado no Mol Genet Genomic Med (2015)

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

Por Happ, Hannah, Weh, Eric, Costakos, Deborah, Reis, Linda M., Semina, Elena V.
Publicado no BMC Med Genet (2016)

Novel SOX2 Mutations and Genotype-Phenotype Correlation in Anophthalmia and Microphthalmia

Por Schneider, Adele, Bardakjian, Tanya, Reis, Linda M., Tyler, Rebecca C., Semina, Elena V.
Publicado em 2009

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

Por Reis, Linda M., Tyler, Rebecca C., Schneider, Adele, Bardakjian, Tanya, Semina, Elena V.
Publicado em 2010

8q21.11 Microdeletion in Two Patients with Syndromic Peters Anomaly

Por Happ, Hannah, Schilter, Kala F., Weh, Eric, Reis, Linda M., Semina, Elena V.
Publicado no Am J Med Genet A (2016)

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

Por Deml, Brett, Reis, Linda M., Maheshwari, Mohit, Griffis, Cristin, Bick, David, Semina, Elena V.
Publicado em 2014

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

Por Maciolek, Nicole L, Alward, Wallace LM, Murray, Jeffrey C, Semina, Elena V, McNally, Mark T
Publicado em 2006

VSX2 mutations in autosomal recessive microphthalmia

Por Reis, Linda M., Khan, Ayesha, Kariminejad, Ariana, Ebadi, Farhad, Tyler, Rebecca C., Semina, Elena V.
Publicado em 2011

Analysis of FOXD3 sequence variation in human ocular disease

Por Kloss, Bethany A. Volkmann, Reis, Linda M., Brémond-Gignac, Dominique, Glaser, Tom, Semina, Elena V.
Publicado em 2012

A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1

Por Reis, Linda M, Tyler, Rebecca C, Zori, Roberto, Burgesst, Jennifer, Mueller, Jennifer, Semina, Elena V
Publicado em 2013

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

Por Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V
Publicado no Eur J Hum Genet (2016)