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Microphthalmia

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

Hildegard Nikki Hall, Hemant Bengani, Robert B. Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A. Marsh, Graeme R. Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M. Mannens, Veronica Van Heyningen, Joe Rainger, Brian P. Brooks, David R. FitzPatrick

published 22 Nov 2022

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Requirement of Smad4 from Ocular Surface Ectoderm for Retinal Development

Jing Li, Shusheng Wang, Chastain Anderson, Fangkun Zhao, Yu Qin, Di Wu, Xinwei Wu, Jia Liu, Xuefei He, Jiangyue Zhao, Jinsong Zhang

published 05 Aug 2016

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Expression of Truncated PITX3 in the Developing Lens Leads to Microphthalmia and Aphakia in Mice

Kenta Wada, Yoshibumi Matsushima, Tomoki Tada, Sayaka Hasegawa, Yo Obara, Yasuhiro Yoshizawa, Gou Takahashi, Hiroshi Hiai, Midori Shimanuki, Sari Suzuki, Junichi Saitou, Naoki Yamamoto, Masumi Ichikawa, Kei Watanabe, Yoshiaki Kikkawa

published 27 Oct 2014

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gdf6a Is Required for Cone Photoreceptor Subtype Differentiation and for the Actions of tbx2b in Determining Rod Versus Cone Photoreceptor Fate

Michèle G. DuVal, A. Phillip Oel, W. Ted Allison

published 28 Mar 2014

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An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

Bum Jun Kim, Hitisha P. Zaveri, Oleg A. Shchelochkov, Zhiyin Yu, Andrés Hernández-García, Michelle L. Seymour, John S. Oghalai, Fred A. Pereira, David W. Stockton, Monica J. Justice, Brendan Lee, Daryl A. Scott

published 25 Feb 2013

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Large-Scale Analysis of Acute Ethanol Exposure in Zebrafish Development: A Critical Time Window and Resilience

Shaukat Ali, Danielle L. Champagne, Alia Alia, Michael K. Richardson

published 19 May 2011

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A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

Ryan Chao, Linda Nevin, Pooja Agarwal, Jan Riemer, Xiaoyang Bai, Allen Delaney, Matthew Akana, Nelson JimenezLopez, Tanya Bardakjian, Adele Schneider, Nicolas Chassaing, Daniel F. Schorderet, David FitzPatrick, Pui-yan Kwok, Lars Ellgaard, Douglas B. Gould, Yan Zhang, Jarema Malicki, Herwig Baier, Anne Slavotinek

published 11 May 2010

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Microphthalmia in Texel Sheep Is Associated with a Missense Mutation in the Paired-Like Homeodomain 3 (PITX3) Gene

Doreen Becker, Jens Tetens, Adrian Brunner, Daniela Bürstel, Martin Ganter, James Kijas, for the International Sheep Genomics Consortium , Cord Drögemüller

published 13 Jan 2010

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Role of the Transcriptional Corepressor Bcor in Embryonic Stem Cell Differentiation and Early Embryonic Development

Joseph Alan Wamstad, Connie Marie Corcoran, Anne Marjorie Keating, Vivian J. Bardwell

published 30 Jul 2008

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