PMC Articles for MedGen (Select 337030) - PMC

Hiram J. Jimenez, Rebecca A. Procopio, Tobin B. T. Thuma, Molly H. Marra, Natalio Izquierdo, Michael A. Klufas, Aaron Nagiel, Mark E. Pennesi, Jose S. Pulido

Int J Mol Sci. 2022 Nov; 23(21): 13361. Published online 2022 Nov 1. doi: 10.3390/ijms232113361

PMCID:: PMC9658040

Abstract Article PDF–418K

Select item 78855865.

Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy

Li-Yun Jia, Kai Ma

BMC Ophthalmol. 2021; 21: 84. Published online 2021 Feb 15. doi: 10.1186/s12886-021-01852-3

PMCID:: PMC7885586

Abstract Article PDF–875K

Select item 55167476.

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Luca Buzzonetti, Lucia Ziccardi

J Ophthalmol. 2017; 2017: 3080245. Published online 2017 Jul 5. doi: 10.1155/2017/3080245

Correction in:: J Ophthalmol. 2017; 2017: 7969364.

PMCID:: PMC5516747

Abstract Article PDF–2.0M

Select item 50822757.

Familial Exudative Vitreoretinopathy

Selçuk Sızmaz, Yoshihiro Yonekawa, Michael T. Trese

Turk J Ophthalmol. 2015 Aug; 45(4): 164–168. Published online 2015 Aug 5. doi: 10.4274/tjo.67699

PMCID:: PMC5082275

Abstract Article PDF–1009K

Select item 85281038.

Repurposing of the Tamoxifen Metabolites to Treat Methicillin-Resistant Staphylococcus epidermidis and Vancomycin-Resistant Enterococcus faecalis Infections

Andrea Miró-Canturri, Andrea Vila-Domínguez, Marta Caretero-Ledesma, Rafael Ayerbe-Algaba, Jerónimo Pachón, Manuel Enrique Jiménez-Mejías, Younes Smani

Microbiol Spectr. 2021 Sep-Oct; 9(2): e00403-21. Published online 2021 Oct 20. doi: 10.1128/Spectrum.00403-21

PMCID:: PMC8528103

Abstract Article PDF–639K

Select item 98717379.

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

Mahsaw Mansoor, Razek Georges Coussa, Margaret R. Strampe, Scott A. Larson, Jonathan F. Russell

Am J Ophthalmol Case Rep. 2023 Mar; 29: 101798. Published online 2023 Jan 19. doi: 10.1016/j.ajoc.2023.101798

PMCID:: PMC9871737

Abstract Article PDF–3.5M

Select item 347292710.

Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy

Huiqin Yang, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qingjiong Zhang

Mol Vis. 2012; 18: 2438–2446. Published online 2012 Oct 4.

PMCID:: PMC3472927

Abstract Article PDF–4.4M

Select item 358099211.

Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity

Hiroyuki Kondo, Shunji Kusaka, Aki Yoshinaga, Eiichi Uchio, Akihiko Tawara, Tomoko Tahira

Mol Vis. 2013; 19: 476–485. Published online 2013 Feb 25.

PMCID:: PMC3580992

Abstract Article PDF–1.4M

Select item 970409712.

Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy

Jianbo Mao, Yijing Chen, Yuyan Fang, Yirun Shao, Ziyi Xiang, Hanxiao Li, Shixin Zhao, Yiqi Chen, Lijun Shen

Ann Med. 2022; 54(1): 3286–3298. Published online 2022 Nov 21. doi: 10.1080/07853890.2022.2146744

PMCID:: PMC9704097

Abstract Article PDF–1.9M

Select item 491273513.

Mutation spectrum of the FZD-4, TSPAN12 AND ZNF408 genes in Indian FEVR patients

Ganeswara Rao Musada, Hameed Syed, Subhadra Jalali, Subhabrata Chakrabarti, Inderjeet Kaur

BMC Ophthalmol. 2016; 16: 90. Published online 2016 Jun 17. doi: 10.1186/s12886-016-0236-y

PMCID:: PMC4912735

Abstract Article PDF–2.5M

Select item 487228114.

Mutation spectrum of the Norrie disease pseudoglioma (NDP) gene in Indian patients with FEVR

Ganeswara Rao Musada, Subhadra Jalali, Anjli Hussain, Anupama Reddy Chururu, Pramod Reddy Gaddam, Subhabrata Chakrabarti, Inderjeet Kaur

Mol Vis. 2016; 22: 491–502. Published online 2016 May 16.

PMCID:: PMC4872281

Abstract Article PDF–4.4M

Select item 463208115.

Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy

Ping Fei, Xiong Zhu, Zhilin Jiang, Shi Ma, Jing Li, Qi Zhang, Yu Zhou, Yu Xu, Zhengfu Tai, Lin Zhang, Lulin Huang, Zhenglin Yang, Peiquan Zhao, Xianjun Zhu

Sci Rep. 2015; 5: 16120. Published online 2015 Nov 4. doi: 10.1038/srep16120

PMCID:: PMC4632081

Abstract Article PDF–883K

Select item 436599016.

Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients

Jason Salvo, Vera Lyubasyuk, Mingchu Xu, Hui Wang, Feng Wang, Duy Nguyen, Keqing Wang, Hongrong Luo, Cindy Wen, Catherine Shi, Danni Lin, Kang Zhang, Rui Chen

Invest Ophthalmol Vis Sci. 2015 Mar; 56(3): 1937–1946. Published online 2015 Mar 19. doi: 10.1167/iovs.14-16065

PMCID:: PMC4365990

Abstract Article PDF–923K

Select item 416977417.

Novel mutations in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy

Yu Xu, Lulin Huang, Jing Li, Qi Zhang, Ping Fei, Xiong Zhu, Zhengfu Tai, Shi Ma, Bo Gong, Yun Li, Weizhou Zang, Xianjun Zhu, Peiquan Zhao, Zhenglin Yang

Mol Vis. 2014; 20: 1296–1306. Published online 2014 Sep 20.