Works matching DE "GENETICS of retinal degeneration"

Results: 119

Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.

Published in:

Molecular Medicine Reports, 2016, v. 13, n. 3, p. 2308, doi. 10.3892/mmr.2016.4784

By:

PIERMAROCCHI, STEFANO;
SEGATO, TATIANA;
LEON, ALBERTA;
COLAVITO, DAVIDE;
MIOTTO, STEFANIA

Publication type:

Article

Current views on genetic testing for AMD.

Published in:

Optometry Times, 2014, v. 6, n. 11, p. 14

By:

FERRUCCI, STEVEN

Publication type:

Article

Optimizing Screening for Preventable Blindness With Head-Mounted Visual Assessment Technology.

Published in:

Journal of Visual Impairment & Blindness, 2022, v. 116, n. 4, p. 579, doi. 10.1177/0145482X221124186

By:

Waisberg, Ethan;
Ong, Joshua;
Paladugu, Phani;
Zaman, Nasif;
Kamran, Sharif Amit;
Lee, Andrew G.;
Tavakkoli, Alireza

Publication type:

Article

Retinal Disorders and Sleep Disorders: Are They Genetically Related?

Published in:

Journal of Visual Impairment & Blindness, 2015, v. 109, n. 5, p. 359, doi. 10.1177/0145482X1510900505

By:

Murphy, Caitlin;
Duponsel, Nathalie;
Xi Sheila Huang;
Wittich, Walter;
Koenekoop, Robert K.;
Overbury, Olga

Publication type:

Article

GENE THERAPY CLINICAL TRIAL UNDERWAY FOR STARGARDT'S DISEASE.

Published in:: Journal of Visual Impairment & Blindness, 2011, v. 105, n. 7, p. 443
Publication type:: Article

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.

Published in:

Eye (0950-222X), 2012, v. 26, n. 6, p. 866, doi. 10.1038/eye.2012.27

By:

Zhao, L;
Grob, S;
Corey, R;
Krupa, M;
Luo, J;
Du, H;
Lee, C;
Hughes, G;
Lee, J;
Quach, J;
Zhu, J;
Shaw, P X;
Kozak, I;
Zhang, K

Publication type:

Article

Recent advances and future prospects in choroideremia.

Published in:

Clinical Ophthalmology, 2015, v. 9, p. 2195, doi. 10.2147/OPTH.S65732

By:

Zinkernagel, Martin S.;
MacLaren, Robert E.

Publication type:

Article

Alternative splicing and retinal degeneration.

Published in:

Clinical Genetics, 2013, v. 84, n. 2, p. 142, doi. 10.1111/cge.12181

By:

Liu, M M;
Zack, D J

Publication type:

Article

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 3, p. 310, doi. 10.1038/ejhg.2014.112

By:

Al-Maawali, Almundher;
Dupuis, Lucie;
Blaser, Susan;
Heon, Elise;
Tarnopolsky, Mark;
Al-Murshedi, Fathiya;
Marshall, Christian R;
Paton, Tara;
Scherer, Stephen W;
Roelofsen, Jeroen;
van Kuilenburg, André BP;
Mendoza-Londono, Roberto

Publication type:

Article

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1266, doi. 10.1038/ejhg.2013.23

By:

Jonsson, Frida;
Burstedt, Marie S;
Sandgren, Ola;
Norberg, Anna;
Golovleva, Irina

Publication type:

Article

The role of autophagy in age-related macular degeneration.

Published in:

Acta Ophthalmologica (1755375X), 2018, v. 96, p. 7, doi. 10.1111/aos.13753

By:

Kivinen, Niko

Publication type:

Article

Dissecting microRNA dysregulation in age‐related macular degeneration: new targets for eye gene therapy.

Published in:

Acta Ophthalmologica (1755375X), 2018, v. 96, n. 1, p. 9, doi. 10.1111/aos.13407

By:

Askou, Anne Louise;
Alsing, Sidsel;
Holmgaard, Andreas;
Bek, Toke;
Corydon, Thomas J.

Publication type:

Article

This issue of ACTA.

Published in:

2016

By:

Stefánsson, Einar

Publication type:

Editorial

Fighting blinding fundus diseases: China on the way!

Published in:

2016

By:

Xu, Xun

Publication type:

Editorial

Mitochondrial DNA haplogroups associated with neovascular age-related degeneration in a Spain population.

Published in:

2015

By:

Esteban, O.;
Ascaso, F.;
Calvo, T.;
Montoya, J.;
Ruiz-Pesino, E.;
Martinez, M.;
Almenara, C.;
Del Buey, M.;
Cristobal, J.

Publication type:

Abstract

Stimulation of TLR4 Increases Angiogenic and Anti-Angiogenic Gene Expression in Choroidal Endothelial Cells.

Published in:

2015

By:

Stewart, E.;
Wei, R.;
Uribe, M.;
May, S.;
Amoaku, W.

Publication type:

Abstract

Genetic association study of age-related macular degeneration in the Spanish population.

Published in:

Acta Ophthalmologica (1755375X), 2011, v. 89, n. 1, p. e12, doi. 10.1111/j.1755-3768.2010.02040.x

By:

Brión, María;
Sanchez-Salorio, Manuel;
Cortón, Marta;
de la Fuente, Maria;
Pazos, Belen;
Othman, Mohammad;
Swaroop, Anand;
Abecasis, Goncalo;
Sobrino, Beatriz;
Carracedo, Angel

Publication type:

Article

Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.

Published in:

Nature Genetics, 2011, v. 43, n. 10, p. 1001, doi. 10.1038/ng.938

By:

Arakawa, Satoshi;
Takahashi, Atsushi;
Ashikawa, Kyota;
Hosono, Naoya;
Aoi, Tomomi;
Yasuda, Miho;
Oshima, Yuji;
Yoshida, Shigeo;
Enaida, Hiroshi;
Tsuchihashi, Takashi;
Mori, Keisuke;
Honda, Shigeru;
Negi, Akira;
Arakawa, Akira;
Kadonosono, Kazuaki;
Kiyohara, Yutaka;
Kamatani, Naoyuki;
Nakamura, Yusuke;
Ishibashi, Tatsuro;
Kubo, Michiaki

Publication type:

Article

Complement factor H R1210C among Japanese patients with age-related macular degeneration.

Published in:

Japanese Journal of Ophthalmology, 2015, v. 59, n. 5, p. 273, doi. 10.1007/s10384-015-0394-0

By:

Miyake, Masahiro;
Saito, Masaaki;
Yamashiro, Kenji;
Sekiryu, Tetsuju;
Yoshimura, Nagahisa

Publication type:

Article

Polypoidal Choroidal Vasculopathy: Clinical Features and Genetic Predisposition.

Published in:

Ophthalmologica, 2014, v. 231, n. 2, p. 59, doi. 10.1159/000355488

By:

Honda, Shigeru;
Matsumiya, Wataru;
Negi, Akira

Publication type:

Article

Electrophysiological and Histologic Evaluation of the Time Course of Retinal Degeneration in the rd10 Mouse Model of Retinitis Pigmentosa.

Published in:

Korean Journal of Physiology & Pharmacology, 2013, v. 17, n. 3, p. 229, doi. 10.4196/kjpp.2013.17.3.229

By:

Seol A Jae;
Kun No Ahn;
Ji Young Kim;
Je Hoon Seo;
Hyong Kyu Kim;
Yong Sook Goo

Publication type:

Article

Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.

Published in:

BioMed Research International, 2018, p. 1, doi. 10.1155/2018/4582816

By:

Gao, Tingting;
Tian, Chengqiang;
Hu, Qinrui;
Liu, Zhiming;
Zou, Jimei;
Huang, Lvzhen;
Zhao, Mingwei

Publication type:

Article

Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine.

Published in:

BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/7532507

By:

Maugeri, Andrea;
Barchitta, Martina;
Mazzone, Maria Grazia;
Giuliano, Francesco;
Agodi, Antonella

Publication type:

Article

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene Therapy.

Published in:

Genes, 2018, v. 9, n. 12, p. 643, doi. 10.3390/genes9120643

By:

Nanda, Anika;
Salvetti, Anna P.;
Clouston, Penny;
Downes, Susan M.;
MacLaren, Robert E.

Publication type:

Article

Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.

Published in:

Genes, 2018, v. 9, n. 7, p. 360, doi. 10.3390/genes9070360

By:

Wang, Likun;
Zhang, Jinlu;
Chen, Ningning;
Wang, Lei;
Zhang, Fengsheng;
Ma, Zhizhong;
Li, Genlin;
Yang, Liping

Publication type:

Article

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.

Published in:

Genes, 2017, v. 8, n. 10, p. 280, doi. 10.3390/genes8100280

By:

Di Iorio, Valentina;
Karali, Marianthi;
Brunetti-Pierri, Raffaella;
Filippelli, Mariaelena;
Di Fruscio, Giuseppina;
Pizzo, Mariateresa;
Mutarelli, Margherita;
Nigro, Vincenzo;
Testa, Francesco;
Banfi, Sandro;
Simonelli, Francesca

Publication type:

Article

A Sema3C Mutant Resistant to Cleavage by Furin (FR-Sema3C) Inhibits Choroidal Neovascularization.

Published in:

PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168122

By:

Toledano, Shira;
Lu, Huayi;
Palacio, Agustina;
Ziv, Keren;
Kessler, Ofra;
Schaal, Shlomit;
Neufeld, Gera;
Barak, Yoreh

Publication type:

Article

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

Published in:

PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168966

By:

de Castro-Miró, Marta;
Tonda, Raul;
Escudero-Ferruz, Paula;
Andrés, Rosa;
Mayor-Lorenzo, Andrés;
Castro, Joaquín;
Ciccioli, Marcela;
Hidalgo, Daniel A.;
Rodríguez-Ezcurra, Juan José;
Farrando, Jorge;
Pérez-Santonja, Juan J.;
Cormand, Bru;
Marfany, Gemma;
Gonzàlez-Duarte, Roser

Publication type:

Article

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

Published in:

PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158692

By:

Tiwari, Amit;
Lemke, Johannes;
Altmueller, Janine;
Thiele, Holger;
Glaus, Esther;
Fleischhauer, Johannes;
Nürnberg, Peter;
Neidhardt, John;
Berger, Wolfgang

Publication type:

Article

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0151943

By:

Sanchez-Alcudia, Rocio;
Garcia-Hoyos, Maria;
Lopez-Martinez, Miguel Angel;
Sanchez-Bolivar, Noelia;
Zurita, Olga;
Gimenez, Ascension;
Villaverde, Cristina;
Rodrigues-Jacy da Silva, Luciana;
Corton, Marta;
Perez-Carro, Raquel;
Torriano, Simona;
Kalatzis, Vasiliki;
Rivolta, Carlo;
Avila-Fernandez, Almudena;
Lorda, Isabel;
Trujillo-Tiebas, Maria J.;
Garcia-Sandoval, Blanca;
Lopez-Molina, Maria Isabel;
Blanco-Kelly, Fiona;
Riveiro-Alvarez, Rosa

Publication type:

Article

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.

Published in:

PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0153121

By:

Corton, Marta;
Nishiguchi, Koji M.;
Avila-Fernández, Almudena;
Nikopoulos, Konstantinos;
Riveiro-Alvarez, Rosa;
Tatu, Sorina D.;
Ayuso, Carmen;
Rivolta, Carlo

Publication type:

Article

Macular degeneration.

Published in:

Australian Journal of Pharmacy, 2014, v. 95, n. 1128, p. 60

By:

Gowan, Jenny;
Roller, Louis

Publication type:

Article

Re: “The Association Between Complement Component 2/Complement Factor B Polymorphisms and Age-related Macular Degeneration: A Huge Review and Meta-analysis”.

Published in:

2013

By:

Tillmann, Sandra;
Grasskamp, Andreas;
Wulf, Matthias;
Martis, Lena-Sophie;
Domani, Martina;
Sand, Philipp G.

Publication type:

Letter

Re: “The Association Between Complement Component 2/Complement Factor B Polymorphisms and Age-Related Macular Degeneration: A Huge Review and Meta-analysis”.

Published in:

2013

By:

Hughes, Anne E.;
Bradley, Declan T.

Publication type:

Letter

No evidence for a genetic blueprint: The case of the "complex" mammalian photoreceptor.

Published in:

Indian Journal of Ophthalmology, 2015, v. 63, n. 4, p. 353, doi. 10.4103/0301-4738.158093

By:

Kumaramanickavel, G.;
Denton, M. J.;
Legge, M.

Publication type:

Article

Emerging therapies for inherited retinal degeneration.

Published in:

Science Translational Medicine, 2016, v. 8, n. 368, p. 1, doi. 10.1126/scitranslmed.aaf2838

By:

Scholl, Hendrik P. N.;
Strauss, Rupert W.;
Singh, Mandeep S.;
Dalkara, Deniz;
Roska, Botond;
Picaud, Serge;
Sahel, José-Alain

Publication type:

Article

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Published in:

Journal of Ophthalmology, 2018, p. 1, doi. 10.1155/2018/5706142

By:

Smaragda, Kamakari;
Vassiliki, Kokkinou;
George, Koutsodontis;
Polixeni, Stamatiou;
Christoforos, Giatzakis;
Anastasios, Anastasakis;
Minas, Aslanides Ioannis;
Stavrenia, Koukoula;
Theoni, Panagiotoglou;
Ioannis, Datseris;
Miltiadis, Tsilimbaris K.

Publication type:

Article

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.

Published in:

Journal of Ophthalmology, 2018, p. 1, doi. 10.1155/2018/1030184

By:

Falfoul, Yousra;
Habibi, Imen;
Turki, Ahmed;
Chebil, Ahmed;
Hassairi, Asma;
Schorderet, Daniel F.;
El Matri, Leila

Publication type:

Article

Personalized medicine - the promised land: are we there yet?

Published in:

Clinical Genetics, 2011, v. 79, n. 5, p. 403, doi. 10.1111/j.1399-0004.2010.01609.x

By:

Li, C.

Publication type:

Article

CCL2 single nucleotide polymorphism of rs1024611 implicates prominence of inflammatory cascade by univariate modeling in Indian AMD.

Published in:

PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0193423

By:

Sharma, Neel Kamal;
Sharma, Kaushal;
Singh, Ramandeep;
Sharma, Suresh Kumar;
Anand, Akshay

Publication type:

Article

Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194321

By:

Winkler, Thomas W.;
Brandl, Caroline;
Grassmann, Felix;
Gorski, Mathias;
Stark, Klaus;
Loss, Julika;
Weber, Bernhard H. F.;
Heid, Iris M.;
null, null

Publication type:

Article

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).

Published in:

2016

By:

Grassmann, Felix;
Cantsilieris, Stuart;
Schulz-Kuhnt, Anja-Sabrina;
White, Stefan J.;
Richardson, Andrea J.;
Hewitt, Alex W.;
Vote, Brendan J.;
Schmied, Denise;
Guymer, Robyn H.;
Weber, Bernhard H. F.;
Baird, Paul N.

Publication type:

journal article

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.

Published in:

BMC Genetics, 2014, v. 15, n. 1, p. 336, doi. 10.1186/s12863-014-0143-2

By:

Méndez-Vidal, Cristina;
Bravo-Gil, Nereida;
Pozo, María González-del;
Vela-Boza, Alicia;
Dopazo, Joaquín;
Borrego, Salud;
Antiñolo, Guillermo

Publication type:

Article

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.

Published in:

PLoS Genetics, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.pgen.1005574

By:

Dona, Margo;
Bachmann-Gagescu, Ruxandra;
Texier, Yves;
Toedt, Grischa;
Hetterschijt, Lisette;
Tonnaer, Edith L.;
Peters, Theo A.;
van Beersum, Sylvia E. C.;
Bergboer, Judith G. M.;
Horn, Nicola;
de Vrieze, Erik;
Slijkerman, Ralph W. N.;
van Reeuwijk, Jeroen;
Flik, Gert;
Keunen, Jan E.;
Ueffing, Marius;
Gibson, Toby J.;
Roepman, Ronald;
Boldt, Karsten;
Kremer, Hannie

Publication type:

Article

Clinical and genetic characteristics of pachydrusen in patients with exudative age-related macular degeneration.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48494-6

By:

Fukuda, Yoshiko;
Sakurada, Yoichi;
Yoneyama, Seigo;
Kikushima, Wataru;
Sugiyama, Atsushi;
Matsubara, Mio;
Tanabe, Naohiko;
Iijima, Hiroyuki

Publication type:

Article

Distrofia Retiniana Familiar. Reporte de dos casos.

Published in:

Gaceta Médica Boliviana, 2013, v. 36, n. 1, p. 42

By:

Llanos Albornoz, Sandra Micaela Mendoza;
Paz Gonzales, Melissa Yohanny;
Céspedes Oporto, Víctor Hugo

Publication type:

Article

Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.

Published in:

Journal of Biochemistry, 2015, v. 158, n. 2, p. 115, doi. 10.1093/jb/mvv028

By:

Songhua Li;
Jane Hu;
Jin, Robin J.;
Aiyar, Ashok;
Jacobson, Samuel G.;
Bok, Dean;
Minghao Jin

Publication type:

Article

Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models.

Published in:

BMC Bioinformatics, 2015, v. 16, p. 1, doi. 10.1186/s12859-015-0760-4

By:

Hall, Jacob B.;
Bailey, Jessica N. Cooke;
Hoffman, Joshua D.;
Pericak-Vance, Margaret A.;
Scott, William K.;
Kovach, Jaclyn L.;
Schwartz, Stephen G.;
Agarwal, Anita;
Brantley Jr., Milam A.;
Haines, Jonathan L.;
Bush, William S.

Publication type:

Article

Oxidative Stress Induces Biphasic ERK1/2 Activation in the RPE with Distinct Effects on Cell Survival at Early and Late Activation.

Published in:

Current Eye Research, 2015, v. 40, n. 8, p. 853, doi. 10.3109/02713683.2014.961613

By:

Koinzer, Stefan;
Reinecke, Kirstin;
Herdegen, Thomas;
Roider, Johann;
Klettner, Alexa

Publication type:

Article

Rescue of Photoreceptors by BDNF Gene Transfer Using In Vivo Electroporation in the RCS Rat of Retinitis Pigmentosa.

Published in:

Current Eye Research, 2009, v. 34, n. 9, p. 791, doi. 10.1080/02713680903086018

By:

Zhang, Meng;
Mo, Xiaofen;
Fang, Yuan;
Guo, Wenyi;
Wu, Jihong;
Zhang, Shenghai;
Huang, Qian

Publication type:

Article