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Items: 1 to 20 of 27

1.
Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab
Alex J. Fay, Allison A. King, Joshua S. Shimony, Yanick J. Crow, Jan E. Brunstrom-Hernandez
Pediatr Neurol. Author manuscript; available in PMC 2018 May 12.
Published in final edited form as: Pediatr Neurol. 2017 Jun; 71: 56–59. Published online 2017 Mar 23. doi: 10.1016/j.pediatrneurol.2017.03.008
PMCID:
PMC5949049
AbstractArticlePDF–320K
2.
Evectins: Vesicular proteins that carry a pleckstrin homology domain and localize to post-Golgi membranes
Ralf Krappa, Andrew Nguyen, Patrick Burrola, Dusanka Deretic, Greg Lemke
Proc Natl Acad Sci U S A. 1999 Apr 13; 96(8): 4633–4638. doi: 10.1073/pnas.96.8.4633
PMCID:
PMC16384
AbstractArticlePDF–440K
3.
Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?
T Revesz, S Fletcher, L I al-Gazali, P DeBuse
J Med Genet. 1992 Sep; 29(9): 673–675. doi: 10.1136/jmg.29.9.673
PMCID:
PMC1016105
SummaryPage BrowsePDF–663K
4.
CST3 genotype associated with exudative age related macular degeneration
Jan Zurdel, Ulrich Finckh, Gunnar Menzer, Roger M Nitsch, Gisbert Richard
Br J Ophthalmol. 2002 Feb; 86(2): 214–219. doi: 10.1136/bjo.86.2.214
PMCID:
PMC1771004
AbstractArticlePDF–231K
5.
Involvement of genetic factors in the response to a variable-dosing ranibizumab treatment regimen for age-related macular degeneration
Slawomir J. Teper, Anna Nowinska, Jaroslaw Pilat, Andrzej Palucha, Edward Wylegala
Mol Vis. 2010; 16: 2598–2604. Published online 2010 Dec 7.
PMCID:
PMC3000236
AbstractArticlePDF–1.1M
6.
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
Suzanne Yzer, Anneke I. den Hollander, Irma Lopez, Jan-Willem R. Pott, Jan Tjeerd H.N. de Faber, Frans P.M. Cremers, Robert K. Koenekoop, L. Ingeborgh van den Born
Mol Vis. 2012; 18: 412–425. Published online 2012 Feb 10.
PMCID:
PMC3283211
AbstractArticlePDF–1.0M
7.
Sequential in-office vitreous aspirates demonstrate vitreous matrix metalloproteinase 9 levels correlate with the amount of subretinal fluid in eyes with wet age-related macular degeneration
Stephanie M. Ecker, Scott M. Pfahler, Joshua C. Hines, Ann S. Lovelace, Bert M. Glaser
Mol Vis. 2012; 18: 1658–1667. Published online 2012 Jun 20.
PMCID:
PMC3388986
AbstractArticlePDF–616K
8.
Expression of Thrombospondin-1 Modulates the Angioinflammatory Phenotype of Choroidal Endothelial Cells
Ping Fei, Ismail Zaitoun, Mitra Farnoodian, Debra L. Fisk, Shoujian Wang, Christine M. Sorenson, Nader Sheibani
PLoS One. 2014; 9(12): e116423. Published online 2014 Dec 30. doi: 10.1371/journal.pone.0116423
PMCID:
PMC4280221
AbstractArticlePDF–6.3M
9.
Familial exudative vitreoretinopathy and related retinopathies
D F Gilmour
Eye (Lond) 2015 Jan; 29(1): 1–14. Published online 2014 Oct 17. doi: 10.1038/eye.2014.70
PMCID:
PMC4289842
AbstractArticlePDF–2.6M
10.
New loci and coding variants confer risk for age-related macular degeneration in East Asians
Ching-Yu Cheng, Kenji Yamashiro, Li Jia Chen, Jeeyun Ahn, Lulin Huang, Lvzhen Huang, Chui Ming G. Cheung, Masahiro Miyake, Peter D. Cackett, Ian Y. Yeo, Augustinus Laude, Ranjana Mathur, Junxiong Pang, Kar Seng Sim, Adrian H. Koh, Peng Chen, Shu Yen Lee, Doric Wong, Choi Mun Chan, Boon Kwang Loh, Yaoyao Sun, Sonia Davila, Isao Nakata, Hideo Nakanishi, Yumiko Akagi-Kurashige, Norimoto Gotoh, Akitaka Tsujikawa, Fumihiko Matsuda, Keisuke Mori, Shin Yoneya, Yoichi Sakurada, Hiroyuki Iijima, Tomohiro Iida, Shigeru Honda, Timothy Yuk Yau Lai, Pancy Oi Sin Tam, Haoyu Chen, Shibo Tang, Xiaoyan Ding, Feng Wen, Fang Lu, Xiongze Zhang, Yi Shi, Peiquan Zhao, Bowen Zhao, Jinghong Sang, Bo Gong, Rajkumar Dorajoo, Jian-Min Yuan, Woon-Puay Koh, Rob M. van Dam, Yechiel Friedlander, Ying Lin, Martin L. Hibberd, Jia Nee Foo, Ningli Wang, Chang Hua Wong, Gavin S. Tan, Sang Jun Park, Mayuri Bhargava, Lingam Gopal, Thet Naing, Jiemin Liao, Peng Guan Ong, Paul Mitchell, Peng Zhou, Xuefeng Xie, Jinlong Liang, Junpu Mei, Xin Jin, Seang-Mei Saw, Mineo Ozaki, Takanori Mizoguchi, Yasuo Kurimoto, Se Joon Woo, Hum Chung, Hyeong-Gon Yu, Joo Young Shin, Dong Ho Park, In Taek Kim, Woohyok Chang, Min Sagong, Sang-Joon Lee, Hyun Woong Kim, Ji Eun Lee, Yi Li, Jianjun Liu, Yik Ying Teo, Chew Kiat Heng, Tock Han Lim, Suk-Kyun Yang, Kyuyoung Song, Eranga N. Vithana, Tin Aung, Jin Xin Bei, Yi Xin Zeng, E. Shyong Tai, Xiao Xin Li, Zhenglin Yang, Kyu-Hyung Park, Chi Pui Pang, Nagahisa Yoshimura, Tien Yin Wong, Chiea Chuen Khor
Nat Commun. 2015 Jan 28; 6: 6063. Published online 2015 Jan 28. doi: 10.1038/ncomms7063
Correction in:
Nat Commun. 2015 Mar 30; 6: 6817.
PMCID:
PMC4317498
AbstractArticlePDF–613K
11.
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
Manjunath Netravathi, Renu Kumari, Saketh Kapoor, Pushkar Dakle, Manish Kumar Dwivedi, Sumitabho Deb Roy, Paritosh Pandey, Jitender Saini, Anil Ramakrishna, Devaraddi Navalli, Parthasarathy Satishchandra, Pramod Kumar Pal, Arun Kumar, Mohammed Faruq
BMC Med Genet. 2015; 16: 5. Published online 2015 Feb 10. doi: 10.1186/s12881-015-0151-8
PMCID:
PMC4422476
AbstractArticlePDF–1.0M
12.
Norrin-induced Frizzled4 endocytosis and endo-lysosomal trafficking control retinal angiogenesis and barrier function
Chi Zhang, Maria B. Lai, Lavan Khandan, Lindsey A. Lee, Zhe Chen, Harald J. Junge
Nat Commun. 2017; 8: 16050. Published online 2017 Jul 4. doi: 10.1038/ncomms16050
PMCID:
PMC5500887
AbstractArticlePDF–6.5M
13.
Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy
Jiayu Li, Chanjuan Wang, Shaochi Zhang, Bo Cai, Bo Pan, Caihong Sun, Xiaolong Qi, Chunmei Ma, Wei Fang, Kangxin Jin, Xiaojun Bi, Zibing Jin, Wenjuan Zhuang
BMC Ophthalmol. 2023; 23: 489. Published online 2023 Nov 29. doi: 10.1186/s12886-023-03243-2
PMCID:
PMC10685552
AbstractArticlePDF–11M
14.
Endothelial Cell–Specific Inactivation of TSPAN12 (Tetraspanin 12) Reveals Pathological Consequences of Barrier Defects in an Otherwise Intact Vasculature
Chi Zhang, Maria B. Lai, Michelle G. Pedler, Verity Johnson, Ralf H. Adams, J. Mark Petrash, Zhe Chen, Harald J. Junge
Arterioscler Thromb Vasc Biol. 2018 Nov; 38(11): 2691–2705. Published online 2018 Sep 20. doi: 10.1161/ATVBAHA.118.311689
PMCID:
PMC6221394
AbstractArticlePDF–2.7M
15.
RAD51B (rs8017304 and rs2588809), TRIB1 (rs6987702, rs4351379, and rs4351376), COL8A1 (rs13095226), and COL10A1 (rs1064583) Gene Variants with Predisposition to Age-Related Macular Degeneration
Alvita Vilkeviciute, Loresa Kriauciuniene, Romanas Chaleckis, Vytenis Pranas Deltuva, Rasa Liutkeviciene
Dis Markers. 2019; 2019: 5631083. Published online 2019 May 2. doi: 10.1155/2019/5631083
PMCID:
PMC6525907
AbstractArticlePDF–705K
16.
A mouse model for kinesin family member 11 (Kif11)-associated familial exudative vitreoretinopathy
Yanshu Wang, Philip M Smallwood, John Williams, Jeremy Nathans
Hum Mol Genet. 2020 May 8; 29(7): 1121–1131. Published online 2020 Jan 29. doi: 10.1093/hmg/ddaa018
PMCID:
PMC7206855
AbstractArticlePDF–1.6M
17.
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy
Genevieve A. Wright, Michalis Georgiou, Anthony G. Robson, Naser Ali, Ambreen Kalhoro, SM Kleine Holthaus, Nikolas Pontikos, Ngozi Oluonye, Emanuel R. de Carvalho, Magella M. Neveu, Richard G. Weleber, Michel Michaelides
Ophthalmol Retina. 2020 Apr; 4(4): 433–445. doi: 10.1016/j.oret.2019.11.005
PMCID:
PMC7479512
AbstractArticlePDF–4.6M
18.
Revesz syndrome revisited
Michael Karremann, Eva Neumaier-Probst, Frank Schlichtenbrede, Fabian Beier, Tim H. Brümmendorf, Friedrich W. Cremer, Peter Bader, Matthias Dürken
Orphanet J Rare Dis. 2020; 15: 299. Published online 2020 Oct 23. doi: 10.1186/s13023-020-01553-y
PMCID:
PMC7583287
AbstractArticlePDF–1.3M
19.
The Role of SNPs in IL1RL1 and IL1RAP Genes in Age-related Macular Degeneration Development and Treatment Efficacy
ALVITA VILKEVICIUTE, NERINGA BASTIKAITYTE, RUTA MOCKUTE, DZASTINA CEBATORIENE, LORESA KRIAUCIUNIENE, JURATE BALCIUNIENE, REDA ZEMAITIENE, RASA LIUTKEVICIENE
In Vivo. 2020 Sep-Oct; 34(5): 2443–2451. Published online 2020 Sep 3. doi: 10.21873/invivo.12059
PMCID:
PMC7652449
AbstractArticlePDF–155K
20.
Intravitreal Triamcinolone Acetonide in Von Hippel–Lindau Patient with Novel Mutation
Maryam Bunajem, Moustafa Magliyah, Yahya Alzahrani
Middle East Afr J Ophthalmol. 2020 Jul-Sep; 27(3): 188–190. Published online 2020 Oct 30. doi: 10.4103/meajo.MEAJO_216_20
PMCID:
PMC7813133
AbstractArticle

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