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Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.
Published in:
2008
By:
- Mihelec, Marija;
- St Heaps, Luke;
- Flaherty, Maree;
- Billson, Frank;
- Rudduck, Christina;
- Tam, Patrick P. L.;
- Grigg, John R.;
- Peters, Greg B.;
- Jamieson, Robyn V.
Publication type:
journal article
Dominant Cone-Rod Dystrophy: A Mouse Model Generated by Gene Targeting of the GCAP1/Guca1a Gene.
Published in:
PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0018089
By:
- Buch, Prateek K.;
- Mihelec, Marija;
- Cottrill, Phillippa;
- Wilkie, Susan E.;
- Pearson, Rachael A.;
- Duran, Yanai;
- West, Emma L.;
- Michaelides, Michel;
- Ali, Robin R.;
- Hunt, David M.
Publication type:
Article
Novel SOX2 partner-factor domain mutation in a four-generation family.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1417, doi. 10.1038/ejhg.2009.79
By:
- Mihelec, Marija;
- Abraham, Peter;
- Gibson, Kate;
- Krowka, Renata;
- Susman, Rachel;
- Storen, Rebecca;
- Yongjuan Chen;
- Donald, Jenny;
- Tam, Patrick P. L.;
- Grigg, John R.;
- Flaherty, Maree;
- Gole, Glen A.;
- Jamieson, Robyn V.
Publication type:
Article
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 20, p. 5789, doi. 10.1093/hmg/ddv298
By:
- Greenlees, Rebecca;
- Mihelec, Marija;
- Yousoof, Saira;
- Speidel, Daniel;
- Wu, Selwin K.;
- Rinkwitz, Silke;
- Prokudin, Ivan;
- Perveen, Rahat;
- Cheng, Anson;
- Ma, Alan;
- Nash, Benjamin;
- Gillespie, Rachel;
- Loebel, David A. F.;
- Clayton-Smith, Jill;
- Lloyd, I. Christopher;
- Grigg, John R.;
- Tam, Patrick P. L.;
- Yap, Alpha S.;
- Becker, Thomas S.;
- Black, Graeme C. M.
Publication type:
Article
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.
Published in:
Human Mutation, 2007, v. 28, n. 10, p. 968, doi. 10.1002/humu.20545
By:
- Jamieson, Robyn V.;
- Farrar, Nicola;
- Stewart, Katrina;
- Perveen, Rahat;
- Mihelec, Marija;
- Carette, Martin;
- Grigg, John R.;
- McAvoy, John W.;
- Lovicu, Frank J.;
- Tam, Patrick P.L.;
- Scambler, Peter;
- Lloyd, I. Christopher;
- Donnai, Dian;
- Black, Graeme C.M.
Publication type:
Article

Found: 5

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

Dominant Cone-Rod Dystrophy: A Mouse Model Generated by Gene Targeting of the GCAP1/Guca1a Gene.

Novel SOX2 partner-factor domain mutation in a four-generation family.

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

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.