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Items: 1 to 20 of 263

1.
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
AbstractArticlePDF–1.3M
2.
Long-term results of allogenic penetrating limbo-keratoplasty: 20 years of experience
S J Lang, D Böhringer, G Geerling, T Reinhard
Eye (Lond) 2017 Mar; 31(3): 372–378. Published online 2016 Oct 21. doi: 10.1038/eye.2016.217
PMCID:
PMC5350353
AbstractArticlePDF–835K
3.
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
AbstractArticlePDF–1.7M
4.
Evaluating Outer Segment Length as a Surrogate Measure of Peak Foveal Cone Density
Melissa A. Wilk, Brandon M. Wilk, Christopher S. Langlo, Robert F. Cooper, Joseph Carroll
Vision Res. Author manuscript; available in PMC 2018 Jan 1.
Published in final edited form as: Vision Res. 2017 Jan; 130: 57–66. Published online 2016 Dec 2. doi: 10.1016/j.visres.2016.10.012
PMCID:
PMC5186335
AbstractArticlePDF–868K
5.
A nonsense PAX6 mutation in a family with congenital aniridia
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Korean J Pediatr. 2016 Nov; 59(Suppl 1): S1–S4. Published online 2016 Nov 30. doi: 10.3345/kjp.2016.59.11.S1
PMCID:
PMC5177687
AbstractArticlePDF–789K
6.
Late Acute Rejection after Allograft Limbal Stem Cell Transplantation: Evidence for Long-term Donor Survival
Medi Eslani, Zeeshan Haq, Asadolah Movahedan, Adam Moss, Alireza Baradaran-Rafii, Gautham Mogilishetty, Edward J. Holland, Ali R. Djalilian
Cornea. Author manuscript; available in PMC 2018 Jan 1.
Published in final edited form as: Cornea. 2017 Jan; 36(1): 26–31. doi: 10.1097/ICO.0000000000000970
PMCID:
PMC5138087
AbstractArticlePDF–287K
7.
Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications
Hideharu Hashimoto, Xing Zhang, Yu Zheng, Geoffrey G. Wilson, Xiaodong Cheng
Nucleic Acids Res. 2016 Dec 1; 44(21): 10165–10176. Published online 2016 Sep 4. doi: 10.1093/nar/gkw766
PMCID:
PMC5137435
AbstractArticlePDF–3.4M
8.
Seed Embryo Development Is Regulated via an AN3-MINI3 Gene Cascade
Lai-Sheng Meng, Yi-Bo Wang, Gary J. Loake, Ji-Hong Jiang
Front Plant Sci. 2016; 7: 1645. Published online 2016 Nov 3. doi: 10.3389/fpls.2016.01645
Correction in:
Front Plant Sci. 2017; 8: 1073.
PMCID:
PMC5093144
AbstractArticlePDF–1.8M
9.
Pediatric genetic diseases causing glaucoma
Parul Ichhpujani, Rohan B. Singh
J Pediatr Genet. 2014 Dec; 3(4): 209–218. doi: 10.3233/PGE-14103
PMCID:
PMC5021008
SummaryPDF–509K
10.
A Novel and Multivalent Role of Pax6 in Cerebellar Development
Joanna Yeung, Thomas J. Ha, Douglas J. Swanson, Dan Goldowitz
J Neurosci. 2016 Aug 31; 36(35): 9057–9069. doi: 10.1523/JNEUROSCI.4385-15.2016
PMCID:
PMC5005719
AbstractArticlePDF–9.0M
11.
PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina
Jack W Hickmott, Chih-yu Chen, David J Arenillas, Andrea J Korecki, Siu Ling Lam, Laurie L Molday, Russell J Bonaguro, Michelle Zhou, Alice Y Chou, Anthony Mathelier, Sanford L Boye, William W Hauswirth, Robert S Molday, Wyeth W Wasserman, Elizabeth M Simpson
Mol Ther Methods Clin Dev. 2016; 3: 16051. Published online 2016 Aug 10. doi: 10.1038/mtm.2016.51
PMCID:
PMC4980111
AbstractArticlePDF–5.5M
12.
Light signaling induces anthocyanin biosynthesis via AN3 mediated COP1 expression
Lai-Sheng Meng, Aizhong Liu
Plant Signal Behav. 2015 Sep; 10(9): e1001223. Published online 2015 Sep 11. doi: 10.1080/15592324.2014.1001223
PMCID:
PMC4883971
AbstractArticlePDF–172K
13.
PAX6, brain structure and function in human adults: advanced MRI in aniridia
Mahinda Yogarajah, Mar Matarin, Christian Vollmar, Pamela J. Thompson, John S. Duncan, Mark Symms, Anthony T. Moore, Joan Liu, Maria Thom, Veronica van Heyningen, Sanjay M. Sisodiya
Ann Clin Transl Neurol. 2016 May; 3(5): 314–330. Published online 2016 Apr 12. doi: 10.1002/acn3.297
PMCID:
PMC4863745
AbstractArticlePDF–1.6M
14.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo López Laso, Rocio Sanchez-Carpintero, Jesus Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark Handley, Elisabeth Freyer, Allyson Ross, DDD Study, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David R. FitzPatrick
Am J Hum Genet. 2016 May 5; 98(5): 981–992. Published online 2016 Apr 21. doi: 10.1016/j.ajhg.2016.03.018
PMCID:
PMC4863663
AbstractArticlePDF–2.0M
15.
A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris development
Anna-Carin Hägglund, Iwan Jones, Leif Carlsson
Dis Model Mech. 2017 Mar 1; 10(3): 245–257. doi: 10.1242/dmm.028605
PMCID:
PMC5374326
AbstractArticle
16.
Combination of Microstereolithography and Electrospinning to Produce Membranes Equipped with Niches for Corneal Regeneration
Ílida Ortega, Farshid Sefat, Pallavi Deshpande, Thomas Paterson, Charanya Ramachandran, Anthony J. Ryan, Sheila MacNeil, Frederik Claeyssens
J Vis Exp. 2014; (91): 51826. Published online 2014 Sep 12. doi: 10.3791/51826
PMCID:
PMC4828067
AbstractArticlePDF–1.0M
17.
Genotype–phenotype correlation of PAX6 gene mutations in aniridia
Tadashi Yokoi, Sachiko Nishina, Maki Fukami, Tsutomu Ogata, Katsuhiro Hosono, Yoshihiro Hotta, Noriyuki Azuma
Hum Genome Var. 2016; 3: 15052. Published online 2016 Feb 11. doi: 10.1038/hgv.2015.52
PMCID:
PMC4760117
AbstractArticlePDF–554K
18.
Contribution of Electronic Medical Records to the Management of Rare Diseases
Dominique Bremond-Gignac, Elisabeth Lewandowski, Henri Copin
Biomed Res Int. 2015; 2015: 954283. Published online 2015 Oct 11. doi: 10.1155/2015/954283
PMCID:
PMC4619907
AbstractArticlePDF–826K
19.
Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients
Dariusz Dobrowolski, Boguslawa Orzechowska-Wylegala, Bogumil Wowra, Ewa Wroblewska-Czajka, Maria Grolik, Krzysztof Szczubialka, Maria Nowakowska, Domenico Puzzolo, Edward A. Wylegala, Antonio Micali, Pasquale Aragona
Biomed Res Int. 2015; 2015: 281870. Published online 2015 Sep 16. doi: 10.1155/2015/281870
PMCID:
PMC4588336
AbstractArticlePDF–1.2M
20.
Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis
Rebecca A Shields, Kara M Cavuoto, Craig A McKeown, Ta C Chang
Clin Case Rep. 2015 Jul; 3(7): 676–678. Published online 2015 Jun 13. doi: 10.1002/ccr3.319
PMCID:
PMC4527823
AbstractArticlePDF–1.0M

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