Publications by authors named "Marija Mihelec"

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Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Rebecca Greenlees, Marija Mihelec, Saira Yousoof, Daniel Speidel, Selwin K Wu

Hum Mol Genet· October 2015

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Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency.
Marija Mihelec, Rachael A Pearson, Scott J Robbie, Prateek K Buch, Selina A Azam

Hum Gene Ther· October 2011

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Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.
Prateek K Buch, Marija Mihelec, Phillippa Cottrill, Susan E Wilkie, Rachael A Pearson

PLoS One· March 2011

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Twist2: role in corneal stromal keratocyte proliferation and corneal thickness.
Linda Weaving, Marija Mihelec, Rebecca Storen, Drazen Sosic, John R Grigg

Invest Ophthalmol Vis Sci· November 2010

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Novel SOX2 partner-factor domain mutation in a four-generation family.
Marija Mihelec, Peter Abraham, Kate Gibson, Renata Krowka, Rachel Susman

Eur J Hum Genet· November 2009

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Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.
Marija Mihelec, Luke St Heaps, Maree Flaherty, Frank Billson, Christina Rudduck

Twin Res Hum Genet· August 2008

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Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
Robyn V Jamieson, Nicola Farrar, Katrina Stewart, Rahat Perveen, Marija Mihelec

Hum Mutat· October 2007

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Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.
Leisha D Nolen, David Amor, Ashley Haywood, Luke St Heaps, Chris Willcock, Marija Mihelec

Am J Med Genet A· August 2006

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