A newly recognized canine phenotype of early-onset retinal degeneration

被引:0
作者
Guziewicz, Karina E. [1 ]
Dufour, Valerie [1 ]
Lew, Lauren [1 ]
Kendrick, Brian Thomas [1 ]
Garcia, Ana Ripolles [1 ]
Beltran, William A. [1 ]
Cideciyan, Artur V. [2 ]
Jacobson, Samuel G. [2 ]
Aguirre, Gustavo D. [1 ]
机构
[1] Univ Penn, Clin Studies, Philadelphia, PA 19104 USA
[2] Univ Penn, Ophthalmol, Philadelphia, PA 19104 USA
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
2792
引用
收藏
页数:3
相关论文
共 50 条
  • [31] CANINE HOMOLOG AND EXCLUSION OF RETINAL DEGENERATION SLOW (RDS) AS THE GENE FOR EARLY RETINAL DEGENERATION (ERD) IN THE DOG
    MOGHRABI, WN
    KEDZIERSKI, W
    TRAVIS, GH
    EXPERIMENTAL EYE RESEARCH, 1995, 61 (05) : 641 - 643
  • [32] Early-onset phenotype of bi-allelic GRN mutations
    Neuray, Caroline
    Sultan, Tipu
    Alvi, Javeira Raza
    Franca, Marcondes C., Jr.
    Assmann, Birgit
    Wagner, Matias
    Canafoglia, Laura
    Franceschetti, Silvana
    Rossi, Giacomina
    Santana, Isabel
    Macario, Maria C.
    Almeida, Maria R.
    Kamate, Mahesh
    Parikh, Sumit
    Elloumi, Houda Zghal
    Murphy, David
    Efthymiou, Stephanie
    Maroofian, Reza
    Houlden, Henry
    BRAIN, 2021, 144
  • [33] Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype
    Mastrangelo, Mario
    Leuzzi, Vincenzo
    PEDIATRIC NEUROLOGY, 2012, 46 (01) : 24 - 31
  • [34] Early-onset phenotype of bi-allelic GRN mutations
    Neuray, Caroline
    Sultan, Tipu
    Alvi, Javeira Raza
    Franca, Marcondes C., Jr.
    Assmann, Birgit
    Wagner, Matias
    Canafoglia, Laura
    Franceschetti, Silvana
    Rossi, Giacomina
    Santana, Isabel
    Macario, Maria C.
    Almeida, Maria R.
    Kamate, Mahesh
    Parikh, Sumit
    Elloumi, Houda Zghal
    Murphy, David
    Efthymiou, Stephanie
    Maroofian, Reza
    Houlden, Henry
    BRAIN, 2021, 144 (02)
  • [35] Regressive Retinal Flecks in CRX-Mutated Early-Onset Retinal Dystrophy
    Cicinelli, Maria Vittoria
    Manitto, Maria Pia
    Parodi, Maurizio Battaglia
    Bandello, Francesco
    OPTOMETRY AND VISION SCIENCE, 2016, 93 (10) : 1315 - 1318
  • [36] Early-onset Fuchs endothelial dystrophy with a novel pathological phenotype
    Park, Serena J. K.
    Brookes, Nigel H.
    Niederer, Rachael L.
    McGhee, Charles N. J.
    Sherwin, Trevor
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2012, 40 (03) : 320 - 322
  • [37] EARLY-ONSET COLORECTAL CANCER: GEOGRAPHICAL DISPARITIES ACCORDING TO PHENOTYPE
    Perea, Jose
    Corchete, Luis Antonio
    Monahan, Kevin J.
    Spinelli, Antonino
    Foppa, Caterina
    de Miranda, Noel F.
    Abdulrahman, Myr
    Palles, Claire
    Curley, Helen M.
    Balaguer, Francesc
    Alvarez, Maria de los Angeles Daca
    Marti-Gallostra, Marc
    Verdaguer, Mireia
    Vivas, Alfredo
    Latchford, Andrew
    Faiz, Omar
    Pawa, Nikhil
    Aseem, Rabiya
    Tarnowski, Wieslaw
    Szczepkowski, Marek
    Borycka-Kiciak, Katarzyna
    Makkai-Popa, Silviu-Tiberiu
    Azagra, Juan S.
    Garcia-Olmo, Damian
    Gonzalez-Sarmiento, Rogelio
    Holowatyj, Andreana
    GASTROENTEROLOGY, 2022, 162 (07) : S269 - S269
  • [38] Usherin defects lead to early-onset retinal dysfunction in zebrafish
    Dona, Margo
    Slijkerman, Ralph
    Lerner, Kimberly
    Broekman, Sanne
    Wegner, Jeremy
    Howat, Taylor
    Peters, Theo
    Hetterschijt, Lisette
    Boon, Nanda
    de Vrieze, Erik
    Sorusch, Nasrin
    Wolfrum, Uwe
    Kremer, Hannie
    Neuhauss, Stephan
    Zang, Jingjing
    Kamermans, Maarten
    Westerfield, Monte
    Phillips, Jennifer
    van Wijk, Erwin
    EXPERIMENTAL EYE RESEARCH, 2018, 173 : 148 - 159
  • [39] Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish
    Danna Jia
    Pan Gao
    Yuexia Lv
    Yuwen Huang
    James Reilly
    Kui Sun
    Yunqiao Han
    Hualei Hu
    Xiang Chen
    Zuxiao Zhang
    Pei Li
    Jiong Luo
    Xinhua Shu
    Zhaohui Tang
    Fei Liu
    Mugen Liu
    Xiang Ren
    Cell Death & Disease, 13
  • [40] Moderate hyperhomocysteinemia and early-onset central retinal vein occlusion
    Lattanzio, R
    Sampietro, F
    Ramoni, A
    Fattorini, A
    Brancato, R
    D'Angelo, A
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2006, 26 (01): : 65 - 70