Scientific literature

In this section we offer references to academic monographic studies and to medical articles already published in scientific journals, listed in reverse chronological order.

When available, you will also find the abstract and/or the link to the original articles.
Please consider that this list is not intended to be exhaustive.

A CGH array procedure to detect PAX6 gene structural defects

Franzoni A, Dello Russo P, Baldan F, D’Elia AV, Puppin C, Penco S, Damante G
Mol Cell Probes. 2016 Dec 2. PII: S0890-8508(16)30117-7. DOI: 10.1016/j.mcp.2016.12.001

http://www.sciencedirect.com/science/article/pii/S0890850816301177

Aniridia: Recent Developments in Scientific and Clinical Research, Springer International 2015.

Editors: Stefano Ferrari, Mohit Parekh, Barbara Poli, Diego Ponzin, Corrado Teofili
ISBN-13: 978-3319197784 – ISBN-10: 3319197789

http://www.springer.com/us/book/9783319197784 (Table of Contents (pdf))

Aniridia Guides and Aniridia-Syndrome (PAX6-Syndrome)

B. Käsmann-Kellner, A. Viestenz, B. Seitz
Редакция | 2015, PM Ophthalmology. Part 1. Aniridia, Practical medicine 02 (15) Ophthalmology. Part 1 | Апрель 17, 2015

http://en.pmarchive.ru/aniridia-guides-and-aniridia-syndrome-pax6-syndrome/

Aniridia

Melanie Hingorani, MA, MBBS, MD, FRCOphth and Anthony Moore, MA, MBBS, FRCS, FRCOphth.
Initial Posting: May 20, 2003; Last Update: November 14, 2013.

https://www.ncbi.nlm.nih.gov/books/NBK1360/

Aniridia

Hingorani M, Hanson I, van Heyningen V.
Eur J Hum Genet. 2012 Oct;20(10):1011-7. doi: 10.1038/ejhg.2012.100. Epub 2012 Jun 13.

https://www.ncbi.nlm.nih.gov/pubmed/22692063

Ocular and systemic findings in a survey of aniridia subjects

Netland PA, Scott ML, Boyle JW 4th, Lauderdale JD.
J AAPOS. 2011 Dec;15(6):562-6. doi: 10.1016/j.jaapos.2011.07.009.

https://www.ncbi.nlm.nih.gov/pubmed/22153401

Autologous Serum Eyedrops in the Treatment of Aniridic Keratopathy

J. S. López-García, MD, PhD, L. Rivas, PhD, I. García-Lozano, MD, J. Murube, MD, PhD
Ophthalmology 2008;115:262–267 © 2008 by the American Academy of Ophthalmology

https://www.ncbi.nlm.nih.gov/pubmed/17675158

Epidemiology of aniridia in Sweden and Norway

Ulla Eden, C. Beijar, R.Riise and K.Tornqvist
Acta Ophtalmologica, vol. 86, issue 7, pages 727–729, November 2008 © 2008 The Authors

http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2008.01309.x/abstract

Aniridia among children and teenagers in Sweden and Norway

Ulla Eden, C. Beijar, R.Riise and K.Tornqvist
Acta Ophtalmologica, vol. 86, issue 7, pages 730–734, November 2008 © 2008 The Authors

http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2009.01530.x/full

Long-term visual prognosis of corneal and ocular surface surgery in patients with congenital aniridia

María Fideliz de la Paz, Juan Alvarez de Toledo, Rafael Ignacio Barraquer, Joaquín Barraquer
Acta Ophtalmologica, vol. 86, issue 7, pages 735–740, November 2008 © 2008 The Authors

http://onlinelibrary.wiley.com/doi/10.1111/j.1755-3768.2008.01293.x/abstract

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations

Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM.
Arch Pediatr Adolesc Med. 2007 May;161(5):463-9

https://www.ncbi.nlm.nih.gov/pubmed/17485622