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Select item 56157771.

Structural brain abnormalities in 12 persons with aniridia

Madison K. Grant, Anastasia M. Bobilev, Jordan E. Pierce, Jon DeWitte, James D. Lauderdale

Version 2. F1000Res. 2017; 6: 255. Published online 2017 Sep 1. doi: 10.12688/f1000research.11063.2

PMCID:: PMC5615777

Abstract Article PDF–1.6M

Select item 54407462.

Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia

Xia Wang, Kevin Gregory-Evans, Kishor M. Wasan, Olena Sivak, Xianghong Shan, Cheryl Y. Gregory-Evans

Mol Ther Nucleic Acids. 2017 Jun 16; 7: 417–428. Published online 2017 May 8. doi: 10.1016/j.omtn.2017.05.002

PMCID:: PMC5440746

Abstract Article PDF–3.9M

Select item 53229523.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton

PLoS One. 2017; 12(2): e0172363. Published online 2017 Feb 23. doi: 10.1371/journal.pone.0172363

PMCID:: PMC5322952

Abstract Article PDF–1.7M

Select item 51100694.

Clinical utility gene card for: Aniridia

Rose Richardson, Melanie Hingorani, Veronica Van Heyningen, Cheryl Gregory-Evans, Mariya Moosajee

Eur J Hum Genet. 2016 Nov; 24(11) Published online 2016 Jul 6. doi: 10.1038/ejhg.2016.73

PMCID:: PMC5110069

Article PDF–126K

Select item 48734065.

Assessment of PAX6 alleles in 66 families with aniridia

Anastasia M. Bobilev, Margaret E. McDougal, William L. Taylor, Eldon E. Geisert, Peter A. Netland, James D. Lauderdale

Clin Genet. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Clin Genet. 2016 Jun; 89(6): 669–677. Published online 2016 Jan 25. doi: 10.1111/cge.12708

PMCID:: PMC4873406

Abstract Article PDF–718K

Select item 48635666.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Sylvie Gerber, Kamil J. Alzayady, Lydie Burglen, Dominique Brémond-Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoit Funalot, Raphaël Calmon, Alexandra Durr, Vera Lucia Gil-da-Silva-Lopes, Maria Fernanda Ribeiro Bittar, Christophe Orssaud, Bénédicte Héron, Edward Ayoub, Patrick Berquin, Nadia Bahi-Buisson, Christine Bole, Cécile Masson, Arnold Munnich, Matias Simons, Marion Delous, Helene Dollfus, Nathalie Boddaert, Stanislas Lyonnet, Josseline Kaplan, Patrick Calvas, David I. Yule, Jean-Michel Rozet, Lucas Fares Taie

Am J Hum Genet. 2016 May 5; 98(5): 971–980. Published online 2016 Apr 21. doi: 10.1016/j.ajhg.2016.03.004

PMCID:: PMC4863566

Abstract Article PDF–1.3M

Select item 48497937.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Morad Ansari, Jacqueline Rainger, Isabel M. Hanson, Kathleen A. Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S. Taylor, Fiona Stewart, Colin E. Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I. Traboulsi, Eduardo D. Silva, Mukhlis M. Madlom, David R. Goudie, Brian W. Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D. McTrusty, Carol Gardiner, Christopher Yale, Anthony T. Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L. Beales, Stephen J. Tuft, Juan B. Solano, Miranda Splitt, Jens Michael Hertz, Trine E. Prescott, Deborah J. Shears, Ken K. Nischal, Martine Doco-Fenzy, Fabienne Prieur, I. Karen Temple, Katherine L. Lachlan, Giuseppe Damante, Danny A. Morrison, Veronica van Heyningen, David R. FitzPatrick

PLoS One. 2016; 11(4): e0153757. Published online 2016 Apr 28. doi: 10.1371/journal.pone.0153757

PMCID:: PMC4849793

Abstract Article PDF–1.3M

Select item 39252858.

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

Shery Thomas, Mervyn G Thomas, Caroline Andrews, Wai-Man Chan, Frank A Proudlock, Rebecca J McLean, Archana Pradeep, Elizabeth C Engle, Irene Gottlob

Eur J Hum Genet. 2014 Mar; 22(3): 344–349. Published online 2013 Aug 14. doi: 10.1038/ejhg.2013.162

PMCID:: PMC3925285

Abstract Article PDF–1.0M

Select item 38712409.

Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

Cheryl Y. Gregory-Evans, Xia Wang, Kishor M. Wasan, Jinying Zhao, Andrew L. Metcalfe, Kevin Gregory-Evans

J Clin Invest. 2014 Jan 2; 124(1): 111–116. Published online 2013 Dec 20. doi: 10.1172/JCI70462

PMCID:: PMC3871240

Abstract Article PDF–2.0M

Select item 385292510.

Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

Shipra Bhatia, Hemant Bengani, Margaret Fish, Alison Brown, Maria Teresa Divizia, Riccardo de Marco, Guiseppe Damante, Robert Grainger, Veronica van Heyningen, Dirk A. Kleinjan

Am J Hum Genet. 2013 Dec 5; 93(6): 1126–1134. doi: 10.1016/j.ajhg.2013.10.028

PMCID:: PMC3852925

Abstract Article PDF–2.3M

Select item 376294311.

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome

Joan C. Han, Audrey Thurm, Christine Golden Williams, Lisa A. Joseph, Wadih M. Zein, Brian P. Brooks, John A. Butman, Sheila M. Brady, Shannon R. Fuhr, Melanie D. Hicks, Amanda E. Huey, Alyson E. Hanish, Kristen M. Danley, Margarita J. Raygada, Owen M. Rennert, Keri Martinowich, Stephen J. Sharp, Jack W. Tsao, Susan E. Swedo

Cortex. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Cortex. 2013 Nov-Dec; 49(10): 10.1016/j.cortex.2013.02.009. Published online 2013 Feb 19. doi: 10.1016/j.cortex.2013.02.009

PMCID:: PMC3762943

Abstract Article PDF–800K

Select item 310373912.

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia

Shagun Aggarwal, Worapoj Jinda, Chanin Limwongse, La-ongsri Atchaneeyasakul, Shubha R. Phadke

Mol Vis. 2011; 17: 1305–1309. Published online 2011 May 7.

PMCID:: PMC3103739

Abstract Article PDF–851K

Select item 306032813.

Clinical utility gene card for: WAGR syndrome

Carol Clericuzio, Melanie Hingorani, John A Crolla, Veronica van Heyningen, Alain Verloes

Eur J Hum Genet. 2011 Apr; 19(4) Published online 2011 Jan 12. doi: 10.1038/ejhg.2010.220

PMCID:: PMC3060328

Article PDF–113K

Select item 276523714.

PAX6 aniridia and interhemispheric brain anomalies

Hana Abouzeid, Mohamed A. Youssef, Nihal ElShakankiri, Philippe Hauser, Francis L. Munier, Daniel F. Schorderet

Mol Vis. 2009; 15: 2074–2083. Published online 2009 Oct 17.

PMCID:: PMC2765237

Abstract Article PDF–1.3M

Select item 264930715.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

Anouk Dansault, Gabriel David, Claire Schwartz, Carolina Jaliffa, Véronique Vieira, Guillaume de la Houssaye, Karine Bigot, Françise Catin, Laurent Tattu, Catherine Chopin, Philippe Halimi, Olivier Roche, Nicole Van Regemorter, Francis Munier, Daniel Schorderet, Jean-Louis Dufier, Cécile Marsac, Daniel Ricquier, Maurice Menasche, Alfred Penfornis, Marc Abitbol

Mol Vis. 2007; 13: 511–523. Published online 2007 Apr 2.