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Select item 32677621.

pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish

Yi Liu, Elena V. Semina

PLoS One. 2012; 7(1): e30896. Published online 2012 Jan 27. doi: 10.1371/journal.pone.0030896

PMCID:: PMC3267762

Abstract Article PDF–658K

Select item 37233102.

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

Mani Yahyavi, Hana Abouzeid, Ghada Gawdat, Anne-Sophie de Preux, Tong Xiao, Tanya Bardakjian, Adele Schneider, Alex Choi, Eric Jorgenson, Herwig Baier, Mohamad El Sada, Daniel F. Schorderet, Anne M. Slavotinek

Hum Mol Genet. 2013 Aug 15; 22(16): 3250–3258. Published online 2013 Apr 15. doi: 10.1093/hmg/ddt179

PMCID:: PMC3723310

Abstract Article PDF–401K

Select item 37209883.

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

Anna Wawrocka, Agata Sikora, Lukasz Kuszel, Maciej R. Krawczynski

J Appl Genet. 2013; 54(3): 345–351. Published online 2013 Jun 13. doi: 10.1007/s13353-013-0154-0

PMCID:: PMC3720988

Abstract Article PDF–196K

Select item 36754384.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

Tuva Barøy, Doriana Misceo, Petter Strømme, Asbjørg Stray-Pedersen, Asbjørn Holmgren, Olaug Kristin Rødningen, Anne Blomhoff, Johan Robert Helle, Alice Stormyr, Bjørn Tvedt, Madeleine Fannemel, Eirik Frengen

Orphanet J Rare Dis. 2013; 8: 3. Published online 2013 Jan 7. doi: 10.1186/1750-1172-8-3

PMCID:: PMC3675438

Abstract Article PDF–3.4M

Select item 35999195.

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

Julia C Schröder, Anne K Läßig, Danuta Galetzka, Angelika Peters, John C Castle, Stefan Diederich, Ulrich Zechner, Wibke Müller-Forell, Annerose Keilmann, Oliver Bartsch

Behav Brain Funct. 2013; 9: 7. Published online 2013 Feb 18. doi: 10.1186/1744-9081-9-7

PMCID:: PMC3599919

Abstract Article PDF–2.6M

Select item 35563936.

TISSUE SPECIFIC RESPONSES TO ABERRANT FGF SIGNALING IN COMPLEX HEAD PHENOTYPES

Neus Martínez-Abadías, Susan M. Motch, Talia L. Pankratz, Yingli Wang, Kristina Aldridge, Ethylin Wang Jabs, Joan T. Richtsmeier

Dev Dyn. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Dev Dyn. 2013 Jan; 242(1): 80–94. Published online 2012 Dec 5. doi: 10.1002/dvdy.23903

PMCID:: PMC3556393

Abstract Article PDF–5.3M

Select item 34848647.

Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation

Lely A. Quina, Takashi Kuramoto, Daniela V. Luquetti, Timothy C. Cox, Tadao Serikawa, Eric E. Turner

Dis Model Mech. 2012 Nov; 5(6): 812–822. Published online 2012 Jun 26. doi: 10.1242/dmm.009910

PMCID:: PMC3484864

Abstract Article

Select item 34603918.

Enhancement of Ubiquitin Conjugation Activity Reduces Intracellular Aggregation of V76D Mutant γD-Crystallin

Zhenzhen Liu, Allen Taylor, Yizhi Liu, Mingxing Wu, Xiaohua Gong, Fu Shang

Invest Ophthalmol Vis Sci. 2012 Sep; 53(10): 6655–6665. Published online 2012 Sep 25. doi: 10.1167/iovs.12-9744

PMCID:: PMC3460391

Abstract Article PDF–641K

Select item 34394279.

Melanoregulin, Product of the dsu Locus, Links the BLOC-Pathway and Oa1 in Organelle Biogenesis

Rivka A. Rachel, Kunio Nagashima, T. Norene O'Sullivan, Laura S. Frost, Frank P. Stefano, Valeria Marigo, Kathleen Boesze-Battaglia

PLoS One. 2012; 7(9): e42446. Published online 2012 Sep 11. doi: 10.1371/journal.pone.0042446

PMCID:: PMC3439427

Abstract Article PDF–916K

Select item 337866110.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of a-dystroglycan

Tony Roscioli, Erik-Jan Kamsteeg, Karen Buysse, Isabelle Maystadt, Jeroen van Reeuwijk, Christa van den Elzen, Ellen van Beusekom, Moniek Riemersma, Rolph Pfundt, Lisenka E.L.M. Vissers, Margit Schraders, Umut Altunoglu, Michael F. Buckley, Han G. Brunner, Bernard Grisart, Huiqing Zhou, Joris A. Veltman, Christian Gilissen, Grazia M.S. Mancini, Paul Delrée, Michèl A. Willemsen, Danijela Petkovic Ramadža, David Chitayat, Christopher Bennett, Eamonn Sheridan, Els A.J. Peeters, Gita M.B. Tan-Sindhunata, Christine E. de Die-Smulders, Koenraad Devriendt, Hülya Kayserili, Osama Abd El-Fattah El-Hashash, Derek L. Stemple, Dirk J. Lefeber, Yung-Yao Lin, Hans van Bokhoven

Nat Genet. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: Nat Genet. 2012 May; 44(5): 581–585. doi: 10.1038/ng.2253

PMCID:: PMC3378661

Abstract Article PDF–2.1M

Select item 337300111.

Ethanol-Induced Microphthalmia is Not Mediated by Changes in Retinoic Acid or Sonic Hedgehog Signaling During Retinal Neurogenesis

Bhavani Kashyap, Ruth A. Frey, Deborah L. Stenkamp

Alcohol Clin Exp Res. Author manuscript; available in PMC 2012 Jun 12.

Published in final edited form as: Alcohol Clin Exp Res. 2011 Sep; 35(9): 1644–1661. Published online 2011 May 9. doi: 10.1111/j.1530-0277.2011.01511.x

PMCID:: PMC3373001

Abstract Article PDF–2.4M

Select item 333892812.

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

María García-Murias, Beatriz Quintáns, Manuel Arias, Ana I. Seixas, Pilar Cacheiro, Rosa Tarrío, Julio Pardo, María J. Millán, Susana Arias-Rivas, Patricia Blanco-Arias, Dolores Dapena, Ramón Moreira, Francisco Rodríguez-Trelles, Jorge Sequeiros, Ángel Carracedo, Isabel Silveira, María J. Sobrido

Brain. 2012 May; 135(5): 1423–1435. Published online 2012 Apr 3. doi: 10.1093/brain/aws069

PMCID:: PMC3338928

Abstract Article PDF–637K

Select item 333021413.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

Andrée Delahaye, Pierre Bitoun, Séverine Drunat, Marion Gérard-Blanluet, Nicolas Chassaing, Annick Toutain, Alain Verloes, Frédérique Gatelais, Marie Legendre, Laurence Faivre, Sandrine Passemard, Azzedine Aboura, Sophie Kaltenbach, Samuel Quentin, Céline Dupont, Anne-Claude Tabet, Serge Amselem, Jacques Elion, Pierre Gressens, Eva Pipiras, Brigitte Benzacken

Eur J Hum Genet. 2012 May; 20(5): 527–533. Published online 2012 Jan 11. doi: 10.1038/ejhg.2011.233

PMCID:: PMC3330214

Abstract Article PDF–424K

Select item 327544514.

Chromosome 15q24 microdeletion syndrome

Pilar L Magoulas, Ayman W El-Hattab

Orphanet J Rare Dis. 2012; 7: 2. Published online 2012 Jan 4. doi: 10.1186/1750-1172-7-2

PMCID:: PMC3275445

Abstract Article PDF–570K

Select item 376315815.

Competition driven by retinal waves promotes morphological and functional synaptic development of neurons in the superior colliculus

Moran Furman, Hong-Ping Xu, Michael C. Crair

J Neurophysiol. 2013 Sep 15; 110(6): 1441–1454. Published online 2013 Jun 5. doi: 10.1152/jn.01066.2012

PMCID:: PMC3763158

Abstract Article

Select item 324845716.

A Spontaneous Mutation in Contactin 1 in the Mouse

Muriel T. Davisson, Roderick T. Bronson, Abigail L. D. Tadenev, William W. Motley, Arjun Krishnaswamy, Kevin L. Seburn, Robert W. Burgess

PLoS One. 2011; 6(12): e29538. Published online 2011 Dec 29. doi: 10.1371/journal.pone.0029538

PMCID:: PMC3248457

Abstract Article PDF–783K

Select item 323607017.

Parent-of-origin effects in SOX2 anophthalmia syndrome

Robert J. Osborne, Jennifer J. Kurinczuk, Nicola K. Ragge

Mol Vis. 2011; 17: 3097–3106. Published online 2011 Nov 24.

PMCID:: PMC3236070

Abstract Article PDF–1.2M

Select item 317604118.

Exaggerated Eye Growth in IRBP-Deficient Mice in Early Development

Jeffrey Wisard, Amanda Faulkner, Micah A. Chrenek, Timothy Waxweiler, Weston Waxweiler, Christy Donmoyer, Gregory I. Liou, Cheryl M. Craft, Gregor F. Schmid, Jeffrey H. Boatright, Machelle T. Pardue, John M. Nickerson

Invest Ophthalmol Vis Sci. 2011 Jul; 52(8): 5804–5811. Published online 2011 Jul 29. doi: 10.1167/iovs.10-7129

PMCID:: PMC3176041

Abstract Article PDF–689K

Select item 315746019.

The Pathologic Effect of a Novel Neomorphic Fgf9^Y162C Allele Is Restricted to Decreased Vision and Retarded Lens Growth

Oliver Puk, Gabriele Möller, Arie Geerlof, Kathrin Krowiorz, Nafees Ahmad, Sibylle Wagner, Jerzy Adamski, Martin Hrabé de Angelis, Jochen Graw

PLoS One. 2011; 6(8): e23678. Published online 2011 Aug 17. doi: 10.1371/journal.pone.0023678

PMCID:: PMC3157460

Abstract Article PDF–2.8M

Select item 314122720.

Syndecan-1 Regulates Cell Migration and Fibronectin Fibril Assembly

Mary Ann Stepp, William P. Daley, Audrey M. Bernstein, Sonali Pal-Ghosh, Gauri Tadvalkar, Alexey Shashurin, Sarah Palsen, Rosalyn A. Jurjus, Melinda Larsen

Exp Cell Res. Author manuscript; available in PMC 2011 Aug 15.

Published in final edited form as: Exp Cell Res. 2010 Aug 15; 316(14): 2322–2339. Published online 2010 May 24. doi: 10.1016/j.yexcr.2010.05.020

PMCID:: PMC3141227

Abstract Article PDF–4.8M

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